diff --git a/.github/workflows/ci.yml b/.github/workflows/ci.yml
new file mode 100644
index 0000000..d986078
--- /dev/null
+++ b/.github/workflows/ci.yml
@@ -0,0 +1,44 @@
+name: CI
+
+on:
+  push:
+    branches:
+      - main
+  pull_request:
+
+jobs:
+  build-test:
+    runs-on: ubuntu-22.04
+    concurrency:
+      group: ${{ github.workflow }}-${{ github.ref }}
+    steps:
+      - name: Checkout code
+        uses: actions/checkout@v2
+        with:
+          submodules: "recursive"
+          fetch-depth: 1
+
+      - name: Setup Rust
+        uses: actions-rust-lang/setup-rust-toolchain@v1
+        with:
+          toolchain: '1.85.0'
+          components: 'clippy, rustfmt'
+
+      - name: Cache Cargo registry and build
+        uses: actions/cache@v3
+        with:
+          path: |
+            ~/.cargo/registry
+            ~/.cargo/git
+            datafusion/vcf/target
+          key: ${{ runner.os }}-cargo-${{ hashFiles('datafusion/vcf/Cargo.lock') }}
+          restore-keys: |
+            ${{ runner.os }}-cargo-
+
+      - name: Check formatting
+        working-directory: datafusion/vcf
+        run: cargo fmt --all -- --check
+
+      - name: Run tests
+        working-directory: datafusion/vcf
+        run: cargo test
diff --git a/.gitignore b/.gitignore
index d01bd1a..290f8c5 100644
--- a/.gitignore
+++ b/.gitignore
@@ -18,4 +18,4 @@ Cargo.lock
 #  be found at https://github.com/github/gitignore/blob/main/Global/JetBrains.gitignore
 #  and can be added to the global gitignore or merged into this file.  For a more nuclear
 #  option (not recommended) you can uncomment the following to ignore the entire idea folder.
-#.idea/
\ No newline at end of file
+.idea/
diff --git a/.pre-commit-config.yaml b/.pre-commit-config.yaml
new file mode 100644
index 0000000..1189833
--- /dev/null
+++ b/.pre-commit-config.yaml
@@ -0,0 +1,8 @@
+repos:
+  - repo: https://github.com/doublify/pre-commit-rust
+    rev: v1.0
+    hooks:
+      - id: fmt
+        args: ["--all", "--"]
+      - id: cargo-check
+
diff --git a/Cargo.lock b/Cargo.lock
new file mode 100644
index 0000000..9fd1e47
--- /dev/null
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+checksum = "36f0bbd478583f79edad978b407914f61b2972f5af6fa089686016be8f9af595"
+dependencies = [
+ "displaydoc",
+ "yoke",
+ "zerofrom",
+]
+
+[[package]]
+name = "zerovec"
+version = "0.11.2"
+source = "registry+https://github.com/rust-lang/crates.io-index"
+checksum = "4a05eb080e015ba39cc9e23bbe5e7fb04d5fb040350f99f34e338d5fdd294428"
+dependencies = [
+ "yoke",
+ "zerofrom",
+ "zerovec-derive",
+]
+
+[[package]]
+name = "zerovec-derive"
+version = "0.11.1"
+source = "registry+https://github.com/rust-lang/crates.io-index"
+checksum = "5b96237efa0c878c64bd89c436f661be4e46b2f3eff1ebb976f7ef2321d2f58f"
+dependencies = [
+ "proc-macro2",
+ "quote",
+ "syn",
+]
+
+[[package]]
+name = "zstd"
+version = "0.13.3"
+source = "registry+https://github.com/rust-lang/crates.io-index"
+checksum = "e91ee311a569c327171651566e07972200e76fcfe2242a4fa446149a3881c08a"
+dependencies = [
+ "zstd-safe",
+]
+
+[[package]]
+name = "zstd-safe"
+version = "7.2.1"
+source = "registry+https://github.com/rust-lang/crates.io-index"
+checksum = "54a3ab4db68cea366acc5c897c7b4d4d1b8994a9cd6e6f841f8964566a419059"
+dependencies = [
+ "zstd-sys",
+]
+
+[[package]]
+name = "zstd-sys"
+version = "2.0.13+zstd.1.5.6"
+source = "registry+https://github.com/rust-lang/crates.io-index"
+checksum = "38ff0f21cfee8f97d94cef41359e0c89aa6113028ab0291aa8ca0038995a95aa"
+dependencies = [
+ "cc",
+ "pkg-config",
+]
diff --git a/Cargo.toml b/Cargo.toml
new file mode 100644
index 0000000..0806f3f
--- /dev/null
+++ b/Cargo.toml
@@ -0,0 +1,13 @@
+[workspace]
+resolver = "2"
+
+members = [
+    "datafusion/vcf",
+]
+
+[workspace.dependencies]
+datafusion = "43.0.0"
+datafusion-execution = "43.0.0"
+async-trait = "0.1.85"
+object_store = { version = "0.11"}
+
diff --git a/LICENSE b/LICENSE
index 261eeb9..6234ba7 100644
--- a/LICENSE
+++ b/LICENSE
@@ -127,7 +127,7 @@
       reproduction, and distribution of the Work otherwise complies with
       the conditions stated in this License.
 
-   5. Submission of Contributions. Unless You explicitly state otherwise,
+   5. Submission of Contributions. Unless You explicitly _state otherwise,
       any Contribution intentionally submitted for inclusion in the Work
       by You to the Licensor shall be under the terms and conditions of
       this License, without any additional terms or conditions.
diff --git a/datafusion/vcf/Cargo.toml b/datafusion/vcf/Cargo.toml
new file mode 100644
index 0000000..a4f2567
--- /dev/null
+++ b/datafusion/vcf/Cargo.toml
@@ -0,0 +1,27 @@
+[package]
+name = "datafusion-vcf"
+version = "0.1.0"
+edition = "2024"
+
+[dependencies]
+datafusion.workspace = true
+datafusion-execution.workspace = true
+async-trait.workspace = true
+
+futures = "0.3.31"
+
+noodles = { version = "0.91.0",  features = ["bam", "sam", "vcf", "bgzf", "async"] }
+noodles-bgzf = { version = "0.36.0" ,features = ["libdeflate"] }
+tokio = { version = "1.43.0", features = ["rt-multi-thread", "rt", "macros"] }
+object_store = {version = "0.11.2", features = ["gcp"] }
+tokio-util = {  version="0.7.13", features = ["io-util", "compat"] }
+bytes = "1.10.0"
+opendal = { version = "0.51.2", features = ["services-gcs", "services-s3","layers-blocking"] }
+log = "0.4.22"
+env_logger = "0.11.6"
+async-stream = "0.3.6"
+
+[[example]]
+name = "datafusion_integration"
+# Some issue when publishing and path isn't specified, so adding here
+path = "./examples/datafusion_integration.rs"
\ No newline at end of file
diff --git a/datafusion/vcf/examples/bgzf_test.rs b/datafusion/vcf/examples/bgzf_test.rs
new file mode 100644
index 0000000..a572612
--- /dev/null
+++ b/datafusion/vcf/examples/bgzf_test.rs
@@ -0,0 +1,119 @@
+use futures::StreamExt;
+use noodles::{bgzf, vcf};
+use opendal::layers::LoggingLayer;
+use opendal::{Operator, services::S3};
+use std::time::Instant;
+use tokio_util::io::StreamReader;
+
+#[tokio::main(flavor = "multi_thread")]
+async fn main() -> Result<(), Box<dyn std::error::Error>> {
+    env_logger::init();
+
+    let remote_files = vec![
+        "release/4.1/vcf/exomes/gnomad.exomes.v4.1.sites.chr21.vcf.bgz",
+        "release/4.1/vcf/genomes/gnomad.genomes.v4.1.sites.chr21.vcf.bgz",
+    ];
+
+    for file_path in remote_files {
+        for chunk_size in [16 * 1024 * 1024, 8 * 1024 * 1024, 4 * 1024 * 1024] {
+            for concurrent in [8, 4, 2, 1] {
+                let start_time = Instant::now();
+
+                let builder = S3::default()
+                    .region("us-east-1")
+                    .bucket("gnomad-public-us-east-1")
+                    .disable_ec2_metadata()
+                    .allow_anonymous();
+
+                let operator = Operator::new(builder)?
+                    .layer(LoggingLayer::default())
+                    .finish();
+
+                println!(
+                    "Testing file: {}, chunk size: {}MB, concurrent: {}",
+                    file_path,
+                    chunk_size / (1024 * 1024),
+                    concurrent
+                );
+
+                let stream_start = Instant::now();
+                let stream = operator
+                    .reader_with(file_path)
+                    .chunk(chunk_size)
+                    .concurrent(concurrent)
+                    .await?
+                    .into_bytes_stream(..)
+                    .await?;
+
+                let stream_time = stream_start.elapsed();
+                println!("Stream setup time: {:?}", stream_time);
+
+                let inner = bgzf::r#async::Reader::new(StreamReader::new(stream));
+                let mut reader = vcf::r#async::io::Reader::new(inner);
+
+                println!("Reading header...");
+                let header = reader.read_header().await?;
+                println!(
+                    "Header read successfully. Contains {} contigs, {} filters, {} info fields, and {} format fields",
+                    header.contigs().len(),
+                    header.filters().len(),
+                    header.infos().len(),
+                    header.formats().len()
+                );
+
+                let fileformat = header.file_format();
+                println!("VCF file format: {:?}", fileformat);
+
+                let essential_fields = ["AC", "AF", "AN"];
+                for field in essential_fields {
+                    if header.infos().get(field).is_some() {
+                        println!("Found essential INFO field: {}", field);
+                    } else {
+                        println!("Warning: Missing essential INFO field: {}", field);
+                    }
+                }
+
+                if header.contigs().is_empty() {
+                    println!("Warning: No contig information in header");
+                } else {
+                    println!(
+                        "File contains information for {} chromosomes/contigs",
+                        header.contigs().len()
+                    );
+                }
+
+                let mut count = 0;
+                let mut batch_start = Instant::now();
+                let mut batch_count = 0;
+                const BATCH_SIZE: usize = 100000;
+
+                let mut records = reader.records();
+                while let Some(record_result) = records.next().await {
+                    let _ = record_result?;
+                    count += 1;
+                    batch_count += 1;
+
+                    if batch_count == BATCH_SIZE {
+                        let batch_time = batch_start.elapsed();
+                        let records_per_sec = BATCH_SIZE as f64 / batch_time.as_secs_f64();
+                        println!(
+                            "Processed batch of {} records in {:?} ({:.2} records/sec). Total records: {}",
+                            BATCH_SIZE, batch_time, records_per_sec, count
+                        );
+                        batch_count = 0;
+                        batch_start = Instant::now();
+                    }
+                }
+
+                let total_time = start_time.elapsed();
+                let avg_speed = count as f64 / total_time.as_secs_f64();
+                println!("Records count: {}", count);
+                println!("Total time: {:?}", total_time);
+                println!("Average speed: {:.2} records/sec", avg_speed);
+                println!("---------------------------------------------");
+            }
+        }
+    }
+
+    Ok(())
+}
diff --git a/datafusion/vcf/examples/datafusion_integration.rs b/datafusion/vcf/examples/datafusion_integration.rs
new file mode 100644
index 0000000..50bd7a2
--- /dev/null
+++ b/datafusion/vcf/examples/datafusion_integration.rs
@@ -0,0 +1,44 @@
+#[allow(unused_imports)]
+use datafusion::arrow::util::pretty::pretty_format_batches;
+use datafusion::datasource::MemTable;
+use datafusion::prelude::SessionContext;
+use datafusion_vcf::storage::VcfRemoteReader;
+use datafusion_vcf::table_provider::VcfTableProvider;
+use std::sync::Arc;
+#[tokio::main(flavor = "multi_thread")]
+async fn main() -> datafusion::error::Result<()> {
+    env_logger::init();
+    let path = "gs://gcp-public-data--gnomad/release/4.1/vcf/exomes/gnomad.exomes.v4.1.sites.chr21.vcf.bgz".to_string();
+    // let path = "gs://gcp-public-data--gnomad/release/4.1/genome_sv/gnomad.v4.1.sv.sites.vcf.gz".to_string();
+    // let path = "gs://genomics-public-data/platinum-genomes/vcf/NA12878_S1.genome.vcf".to_string();
+    // let path ="/tmp/gnomad.exomes.v4.1.sites.chr21.vcf.bgz".to_string();
+    // let path ="/tmp/gnomad.v4.1.sv.sites.vcf.gz".to_string();
+    // let path ="/tmp//NA12878_S1.genome.vcf".to_string();
+    // let infos  = Some(Vec::from(["AC".to_string(), "AF".to_string(), "AN".to_string(), "FS".to_string(), "AN_raw".to_string(), "variant_type".to_string(), "AS_culprit".to_string(), "only_het".to_string()]));
+    // let infos  = Some(Vec::from(["SVTYPE".to_string()]));
+    // let infos  = Some(Vec::from(["AF".to_string()])); 50722005
+    let infos = None;
+    // Create a new context with the default configuration
+    let ctx = SessionContext::new();
+    ctx.sql("set datafusion.execution.skip_physical_aggregate_schema_check=true")
+        .await?;
+    // let table_provider = VcfTableProvider::new("/tmp/gnomad.exomes.v4.1.sites.chr21.vcf.bgz".parse().unwrap(), vec!["SVTYPE".parse().unwrap()], vec![], Some(8))?;
+    let table_provider = VcfTableProvider::new(path.clone(), infos, None, Some(4), None, None)?;
+    ctx.register_table("custom_table", Arc::new(table_provider))
+        .expect("TODO: panic message");
+    // let df = ctx.sql("SELECT svtype, count(*) as cnt FROM custom_table group by svtype").await?;
+    // let df = ctx.sql("SELECT count(*) as cnt FROM custom_table").await?;
+    // df.clone().write_csv("/tmp/gnomad.exomes.v4.1.sites.chr21-old.csv", DataFrameWriteOptions::default(), Some(CsvOptions::default())).await?;
+    let _df = ctx.sql("SELECT chrom FROM custom_table LIMIT 5").await?;
+    // println!("{:?}", df.explain(false, false)?);
+    let mut reader = VcfRemoteReader::new(path, 64, 1).await;
+    let rb = reader.describe().await?;
+    // print!("{}", pretty_format_batches(&[rb]).expect("TODO: panic message").to_string());
+    let mem_table = MemTable::try_new(rb.schema().clone(), vec![vec![rb]])?;
+    ctx.register_table("my_table", Arc::new(mem_table))?;
+    let df = ctx.table("my_table").await?;
+    ctx.deregister_table("my_table")?;
+    df.show().await.expect("TODO: panic message");
+    // println!("{:?}", );
+    Ok(())
+}
diff --git a/datafusion/vcf/examples/noodles_test.rs b/datafusion/vcf/examples/noodles_test.rs
new file mode 100644
index 0000000..7846617
--- /dev/null
+++ b/datafusion/vcf/examples/noodles_test.rs
@@ -0,0 +1,151 @@
+// use bytes::Bytes;
+use datafusion::error::Result;
+use noodles_bgzf as bgzf;
+// use object_store::ObjectStore;
+// use object_store::gcp::GoogleCloudStorageBuilder;
+// use object_store::path::Path;
+// use std::io;
+// use std::slice::SliceIndex;
+// use std::sync::Arc;
+use futures::StreamExt;
+// use datafusion::arrow::datatypes::DataType::Int64;
+// use datafusion::parquet::arrow::async_reader::AsyncFileReader;
+use tokio_util::io::StreamReader;
+// use object_store::buffered::BufReader;
+// use tokio::io::{AsyncBufRead, AsyncReadExt, AsyncSeek};
+
+// use opendal::Result;
+// use log::{info, log};
+use noodles::vcf;
+use opendal::Operator;
+use opendal::layers::LoggingLayer;
+#[allow(unused_imports)]
+use opendal::services;
+// use opendal::services::Gcs;
+use opendal::services::S3;
+
+// const BUCKET: &str = "gcp-public-data--gnomad";
+const BUCKET: &str = "gnomad-public-us-east-1";
+const NAME: &str = "release/4.1/vcf/exomes/gnomad.exomes.v4.1.sites.chr21.vcf.bgz";
+const BATCH_SIZE: usize = 100000;
+
+#[tokio::main(flavor = "multi_thread")]
+async fn main() -> Result<(), Box<dyn std::error::Error>> {
+    env_logger::init();
+    let start_time = std::time::Instant::now();
+
+    let builder = S3::default()
+        .region("us-east-1")
+        .bucket(BUCKET)
+        .disable_ec2_metadata()
+        .allow_anonymous();
+
+    let operator = Operator::new(builder)?
+        .layer(LoggingLayer::default())
+        .finish();
+
+    let setup_time = start_time.elapsed();
+    println!("Setup time: {:?}", setup_time);
+
+    let stream_start = std::time::Instant::now();
+    let stream = operator
+        .reader_with(NAME)
+        .chunk(16 * 1024 * 1024)
+        .concurrent(2)
+        .await?
+        .into_bytes_stream(..)
+        .await?;
+    let stream_time = stream_start.elapsed();
+    println!("Stream setup time: {:?}", stream_time);
+
+    let inner = bgzf::r#async::Reader::new(StreamReader::new(stream));
+    let mut reader = vcf::r#async::io::Reader::new(inner);
+
+    println!("Reading header");
+    let mut count = 0;
+    let mut batch_start = std::time::Instant::now();
+    let mut batch_count = 0;
+
+    loop {
+        let record = reader.records().next().await;
+        if record.is_none() {
+            break;
+        };
+        count += 1;
+        batch_count += 1;
+
+        if batch_count == BATCH_SIZE {
+            let batch_time = batch_start.elapsed();
+            let records_per_sec = BATCH_SIZE as f64 / batch_time.as_secs_f64();
+            println!(
+                "Processed batch of {} records in {:?} ({:.2} records/sec). Total records: {}",
+                BATCH_SIZE, batch_time, records_per_sec, count
+            );
+            batch_count = 0;
+            batch_start = std::time::Instant::now();
+        }
+    }
+
+    let total_time = start_time.elapsed();
+    let avg_speed = count as f64 / total_time.as_secs_f64();
+    println!("Total records processed: {}", count);
+    println!("Total time: {:?}", total_time);
+    println!("Average speed: {:.2} records/sec", avg_speed);
+    Ok(())
+}
+
+// let builder = Gcs::default()
+//     .bucket(BUCKET)
+//     .disable_vm_metadata()
+//     .allow_anonymous();
+//
+// let operator = Operator::new(builder)?.finish();
+//
+// let stream = operator.reader(NAME).await?.into_bytes_stream(..).await?;
+// let inner = StreamReader::new(stream);
+
+// let stdout = io::stdout();
+// let mut writer = sam::r#async::io::Writer::new(stdout);
+//
+// // writer.write_header(&header).await?;
+
+// let mut records = reader.records();
+// let mut builder = services::Gcs::default();
+// builder.bucket("gcp-public-data--gnomad");
+// let op = Operator::new(builder).unwrap()
+//     // Init with logging layer enabled.
+//     .layer(LoggingLayer::default())
+//     .finish();
+
+// let reader = op.blocking().reader("release/4.1/vcf/exomes/gnomad.exomes.v4.1.sites.chr21.vcf.bgz").unwrap().into_std_read(0..u64::MAX);
+// let gcs = GoogleCloudStorageBuilder::default().with_bucket_name("gcp-public-data--gnomad").build().unwrap();
+// let path = Path::from("release/4.1/vcf/exomes/gnomad.exomes.v4.1.sites.chr21.vcf.bgz");
+// let result = gcs.get(&path).await?;
+// let reader = object_store::buffered::BufReader::with_capacity(Arc::new(gcs), &result.meta, 1024);
+// let mut out = Vec::with_capacity(1024);
+// let read = reader.read(&mut out).await.unwrap();
+// println!("{}", result.meta.size);
+// let byte_stream = result.into_stream();
+// let num_zeros = byte_stream
+//     .try_fold(0, |acc, bytes| async move {
+//         Ok(acc + bytes.iter().filter(|b| **b == 0).count())
+//     }).await.unwrap();
+
+// println!("Num zeros in {} is {}", path, num_zeros);
+// let async_reader = StreamReader::new(reader);
+// let buf = async_reader.read(&mut [0; 1024]).await?;
+// println!("{:?}", buf);
+
+// let mut blocking_reader = SyncIoBridge::new(async_reader);
+// let bgzf_reader = bgzf::Reader::new(&mut blocking_reader);
+// let mut vcf_reader = vcf::io::Reader::new(bgzf_reader);
+
+// let mut vcf_reader = vcf::io::Reader::new(reader);
+// let header = vcf_reader.read_header().await?;
+
+// let mut records = vcf_reader.record_bufs(&header);
+// let mut raw_header = String::new();
+// header_reader.read_to_string(&mut raw_header).await?;
+// println!("{:}", raw_header);
+// let mut reader = bgzf::MultithreadedReader::new(stream);
+// let _inner = reader.get_mut();
diff --git a/datafusion/vcf/src/lib.rs b/datafusion/vcf/src/lib.rs
new file mode 100644
index 0000000..0d9a938
--- /dev/null
+++ b/datafusion/vcf/src/lib.rs
@@ -0,0 +1,5 @@
+extern crate core;
+
+mod physical_exec;
+pub mod storage;
+pub mod table_provider;
diff --git a/datafusion/vcf/src/physical_exec.rs b/datafusion/vcf/src/physical_exec.rs
new file mode 100644
index 0000000..38b60a9
--- /dev/null
+++ b/datafusion/vcf/src/physical_exec.rs
@@ -0,0 +1,522 @@
+use std::any::Any;
+use std::fmt::{Debug, Formatter};
+use std::sync::Arc;
+
+use crate::storage::{StorageType, VcfLocalReader, VcfRemoteReader, get_storage_type};
+use crate::table_provider::{OptionalField, info_to_arrow_type};
+use async_stream::__private::AsyncStream;
+use async_stream::try_stream;
+use datafusion::arrow::array::{Array, Float64Array, NullArray, StringArray, UInt32Array};
+use datafusion::arrow::datatypes::{DataType, SchemaRef};
+use datafusion::arrow::record_batch::RecordBatch;
+use datafusion::common::DataFusionError;
+use datafusion::physical_plan::stream::RecordBatchStreamAdapter;
+use datafusion::physical_plan::{DisplayAs, DisplayFormatType, ExecutionPlan, PlanProperties};
+use datafusion_execution::{SendableRecordBatchStream, TaskContext};
+use futures::{StreamExt, TryStreamExt};
+use log::debug;
+use noodles::vcf::Header;
+use noodles::vcf::header::Infos;
+use noodles::vcf::variant::Record;
+use noodles::vcf::variant::record::info::field::{Value, value::Array as ValueArray};
+use noodles::vcf::variant::record::{AlternateBases, Filters, Ids, ReferenceBases};
+use std::str;
+
+fn build_record_batch(
+    schema: SchemaRef,
+    chroms: &[String],
+    poss: &[u32],
+    pose: &[u32],
+    ids: &[String],
+    refs: &[String],
+    alts: &[String],
+    quals: &[f64],
+    filters: &[String],
+    infos: Option<&Vec<Arc<dyn Array>>>,
+    projection: Option<Vec<usize>>,
+) -> datafusion::error::Result<RecordBatch> {
+    let chrom_array = Arc::new(StringArray::from(chroms.to_vec())) as Arc<dyn Array>;
+    let pos_start_array = Arc::new(UInt32Array::from(poss.to_vec())) as Arc<dyn Array>;
+    let pos_end_array = Arc::new(UInt32Array::from(pose.to_vec())) as Arc<dyn Array>;
+    let id_array = Arc::new(StringArray::from(ids.to_vec())) as Arc<dyn Array>;
+    let ref_array = Arc::new(StringArray::from(refs.to_vec())) as Arc<dyn Array>;
+    let alt_array = Arc::new(StringArray::from(alts.to_vec())) as Arc<dyn Array>;
+    let qual_array = Arc::new(Float64Array::from(quals.to_vec())) as Arc<dyn Array>;
+    let filter_array = Arc::new(StringArray::from(filters.to_vec())) as Arc<dyn Array>;
+    let arrays = match projection {
+        None => {
+            let mut arrays: Vec<Arc<dyn Array>> = vec![
+                chrom_array,
+                pos_start_array,
+                pos_end_array,
+                id_array,
+                ref_array,
+                alt_array,
+                qual_array,
+                filter_array,
+            ];
+            arrays.append(&mut infos.unwrap().clone());
+            arrays
+        }
+        Some(proj_ids) => {
+            let mut arrays: Vec<Arc<dyn Array>> = Vec::with_capacity(ids.len());
+            if proj_ids.is_empty() {
+                debug!("Empty projection creating a dummy field");
+                arrays.push(Arc::new(NullArray::new(chrom_array.len())) as Arc<dyn Array>);
+            } else {
+                for i in proj_ids.clone() {
+                    match i {
+                        0 => arrays.push(chrom_array.clone()),
+                        1 => arrays.push(pos_start_array.clone()),
+                        2 => arrays.push(pos_end_array.clone()),
+                        3 => arrays.push(id_array.clone()),
+                        4 => arrays.push(ref_array.clone()),
+                        5 => arrays.push(alt_array.clone()),
+                        6 => arrays.push(qual_array.clone()),
+                        7 => arrays.push(filter_array.clone()),
+                        _ => arrays.push(infos.unwrap()[i - 8].clone()),
+                    }
+                }
+            }
+            arrays
+        }
+    };
+    RecordBatch::try_new(schema.clone(), arrays)
+        .map_err(|e| DataFusionError::Execution(format!("Error creating batch: {:?}", e)))
+}
+
+fn load_infos(
+    record: Box<dyn Record>,
+    header: &Header,
+    info_builders: &mut (Vec<String>, Vec<DataType>, Vec<OptionalField>),
+) -> Result<(), datafusion::arrow::error::ArrowError> {
+    for i in 0..info_builders.2.len() {
+        let name = &info_builders.0[i];
+        let data_type = &info_builders.1[i];
+        let builder = &mut info_builders.2[i];
+        let info = record.info();
+        let value = info.get(header, name);
+
+        match value {
+            Some(Ok(v)) => match v {
+                Some(Value::Integer(v)) => {
+                    builder.append_int(v)?;
+                }
+                Some(Value::Array(ValueArray::Integer(values))) => {
+                    builder
+                        .append_array_int(values.iter().map(|v| v.unwrap().unwrap()).collect())?;
+                }
+                Some(Value::Array(ValueArray::Float(values))) => {
+                    builder
+                        .append_array_float(values.iter().map(|v| v.unwrap().unwrap()).collect())?;
+                }
+                Some(Value::Float(v)) => {
+                    builder.append_float(v)?;
+                }
+                Some(Value::String(v)) => {
+                    builder.append_string(&v)?;
+                }
+                Some(Value::Array(ValueArray::String(values))) => {
+                    builder.append_array_string(
+                        values
+                            .iter()
+                            .map(|v| v.unwrap().unwrap().to_string())
+                            .collect(),
+                    )?;
+                }
+                Some(Value::Flag) => {
+                    builder.append_boolean(true)?;
+                }
+                None => {
+                    if data_type == &DataType::Boolean {
+                        builder.append_boolean(false)?;
+                    } else {
+                        builder.append_null()?;
+                    }
+                }
+                _ => panic!("Unsupported value type"),
+            },
+
+            _ => {
+                if data_type == &DataType::Boolean {
+                    builder.append_boolean(false)?;
+                } else {
+                    builder.append_null()?;
+                }
+            }
+        }
+    }
+    Ok(())
+}
+
+fn builders_to_arrays(builders: &mut Vec<OptionalField>) -> Vec<Arc<dyn Array>> {
+    builders
+        .iter_mut()
+        .map(|f| f.finish())
+        .collect::<Result<Vec<_>, _>>()
+        .unwrap()
+}
+
+fn get_variant_end(record: &dyn Record, header: &Header) -> u32 {
+    let ref_len = record.reference_bases().len();
+    let alt_len = record.alternate_bases().len();
+    //check if all are single base ACTG
+    if ref_len == 1
+        && alt_len == 1
+        && record
+            .reference_bases()
+            .iter()
+            .map(|c| c.unwrap())
+            .all(|c| c == b'A' || c == b'C' || c == b'G' || c == b'T')
+        && record
+            .alternate_bases()
+            .iter()
+            .map(|c| c.unwrap())
+            .all(|c| c.eq("A") || c.eq("C") || c.eq("G") || c.eq("T"))
+    {
+        record.variant_start().unwrap().unwrap().get() as u32
+    } else {
+        record.variant_end(header).unwrap().get() as u32
+    }
+}
+
+async fn get_local_vcf(
+    file_path: String,
+    schema_ref: SchemaRef,
+    batch_size: usize,
+    thread_num: Option<usize>,
+    info_fields: Option<Vec<String>>,
+    projection: Option<Vec<usize>>,
+) -> datafusion::error::Result<impl futures::Stream<Item = datafusion::error::Result<RecordBatch>>>
+{
+    let mut chroms: Vec<String> = Vec::with_capacity(batch_size);
+    let mut poss: Vec<u32> = Vec::with_capacity(batch_size);
+    let mut pose: Vec<u32> = Vec::with_capacity(batch_size);
+    let mut ids: Vec<String> = Vec::with_capacity(batch_size);
+    let mut refs: Vec<String> = Vec::with_capacity(batch_size);
+    let mut alts: Vec<String> = Vec::with_capacity(batch_size);
+    let mut quals: Vec<f64> = Vec::with_capacity(batch_size);
+    let mut filters: Vec<String> = Vec::with_capacity(batch_size);
+
+    // let mut count: usize = 0;
+    let mut batch_num = 0;
+    let schema = Arc::clone(&schema_ref);
+    let file_path = file_path.clone();
+    let thread_num = thread_num.unwrap_or(1);
+    let mut reader = VcfLocalReader::new(file_path.clone(), thread_num).await;
+    let header = reader.read_header().await?;
+    let infos = header.infos();
+    let mut record_num = 0;
+    let mut info_builders: (Vec<String>, Vec<DataType>, Vec<OptionalField>) =
+        (Vec::new(), Vec::new(), Vec::new());
+    set_info_builders(batch_size, info_fields, infos, &mut info_builders);
+
+    let stream = try_stream! {
+
+        let mut records = reader.read_records();
+        // let iter_start_time = Instant::now();
+        while let Some(result) = records.next().await {
+            let record = result?;  // propagate errors if any
+            chroms.push(record.reference_sequence_name().to_string());
+            poss.push(record.variant_start().unwrap()?.get() as u32);
+            pose.push(get_variant_end(&record, &header));
+            ids.push(record.ids().iter().map(|v| v.to_string()).collect::<Vec<String>>().join(";"));
+            refs.push(record.reference_bases().to_string());
+            alts.push(record.alternate_bases().iter().map(|v| v.unwrap_or(".").to_string()).collect::<Vec<String>>().join("|"));
+            quals.push(record.quality_score().unwrap_or(Ok(0.0)).unwrap() as f64);
+            filters.push(record.filters().iter(&header).map(|v| v.unwrap_or(".").to_string()).collect::<Vec<String>>().join(";"));
+            load_infos(Box::new(record), &header, &mut info_builders)?;
+            record_num += 1;
+            // Once the batch size is reached, build and yield a record batch.
+            if record_num % batch_size == 0 {
+                debug!("Record number: {}", record_num);
+                let batch = build_record_batch(
+                    Arc::clone(&schema.clone()),
+                    &chroms,
+                    &poss,
+                    &pose,
+                    &ids,
+                    &refs,
+                    &alts,
+                    &quals,
+                    &filters,
+                    Some(&builders_to_arrays(&mut info_builders.2)), projection.clone(),
+                    // if infos.is_empty() { None } else { Some(&infos) },
+
+                )?;
+                batch_num += 1;
+                debug!("Batch number: {}", batch_num);
+                yield batch;
+                // Clear vectors for the next batch.
+                chroms.clear();
+                poss.clear();
+                pose.clear();
+                ids.clear();
+                refs.clear();
+                alts.clear();
+                quals.clear();
+                filters.clear();
+
+            }
+        }
+        // If there are remaining records that don't fill a complete batch,
+        // yield them as well.
+        if !chroms.is_empty() {
+            let batch = build_record_batch(
+                Arc::clone(&schema.clone()),
+                &chroms,
+                &poss,
+                &pose,
+                &ids,
+                &refs,
+                &alts,
+                &quals,
+                &filters,
+                Some(&builders_to_arrays(&mut info_builders.2)), projection.clone(),
+                // if infos.is_empty() { None } else { Some(&infos) },
+            )?;
+            yield batch;
+        }
+    };
+    Ok(stream)
+}
+
+async fn get_remote_vcf_stream(
+    file_path: String,
+    schema: SchemaRef,
+    batch_size: usize,
+    info_fields: Option<Vec<String>>,
+    projection: Option<Vec<usize>>,
+    chunk_size: usize,
+    concurrent_fetches: usize,
+) -> datafusion::error::Result<
+    AsyncStream<datafusion::error::Result<RecordBatch>, impl Future<Output = ()> + Sized>,
+> {
+    let mut reader = VcfRemoteReader::new(file_path.clone(), chunk_size, concurrent_fetches).await;
+    let header = reader.read_header().await?;
+    let infos = header.infos();
+    let mut info_builders: (Vec<String>, Vec<DataType>, Vec<OptionalField>) =
+        (Vec::new(), Vec::new(), Vec::new());
+    set_info_builders(batch_size, info_fields, infos, &mut info_builders);
+
+    let stream = try_stream! {
+        // Create vectors for accumulating record data.
+        let mut chroms: Vec<String> = Vec::with_capacity(batch_size);
+        let mut poss: Vec<u32> = Vec::with_capacity(batch_size);
+        let mut pose: Vec<u32> = Vec::with_capacity(batch_size);
+        let mut ids: Vec<String> = Vec::with_capacity(batch_size);
+        let mut refs: Vec<String> = Vec::with_capacity(batch_size);
+        let mut alts: Vec<String> = Vec::with_capacity(batch_size);
+        let mut quals: Vec<f64> = Vec::with_capacity(batch_size);
+        let mut filters: Vec<String> = Vec::with_capacity(batch_size);
+        // add infos fields vector of vectors of different types
+
+        debug!("Info fields: {:?}", info_builders);
+
+        let mut record_num = 0;
+        let mut batch_num = 0;
+
+
+        // Process records one by one.
+
+        let mut records = reader.read_records().await;
+        while let Some(result) = records.next().await {
+            let record = result?;  // propagate errors if any
+            chroms.push(record.reference_sequence_name().to_string());
+            poss.push(record.variant_start().unwrap()?.get() as u32);
+            pose.push(get_variant_end(&record, &header));
+            ids.push(record.ids().iter().map(|v| v.to_string()).collect::<Vec<String>>().join(";"));
+            refs.push(record.reference_bases().to_string());
+            alts.push(record.alternate_bases().iter().map(|v| v.unwrap_or(".").to_string()).collect::<Vec<String>>().join("|"));
+            quals.push(record.quality_score().unwrap_or(Ok(0.0)).unwrap() as f64);
+            filters.push(record.filters().iter(&header).map(|v| v.unwrap_or(".").to_string()).collect::<Vec<String>>().join(";"));
+            load_infos(Box::new(record), &header, &mut info_builders)?;
+            record_num += 1;
+            // Once the batch size is reached, build and yield a record batch.
+            if record_num % batch_size == 0 {
+                debug!("Record number: {}", record_num);
+                let batch = build_record_batch(
+                    Arc::clone(&schema.clone()),
+                    &chroms,
+                    &poss,
+                    &pose,
+                    &ids,
+                    &refs,
+                    &alts,
+                    &quals,
+                    &filters,
+                    Some(&builders_to_arrays(&mut info_builders.2)), projection.clone(),
+                    // if infos.is_empty() { None } else { Some(&infos) },
+
+                )?;
+                batch_num += 1;
+                debug!("Batch number: {}", batch_num);
+                yield batch;
+                // Clear vectors for the next batch.
+                chroms.clear();
+                poss.clear();
+                pose.clear();
+                ids.clear();
+                refs.clear();
+                alts.clear();
+                quals.clear();
+                filters.clear();
+
+            }
+        }
+        // If there are remaining records that don't fill a complete batch,
+        // yield them as well.
+        if !chroms.is_empty() {
+            let batch = build_record_batch(
+                Arc::clone(&schema.clone()),
+                &chroms,
+                &poss,
+                &pose,
+                &ids,
+                &refs,
+                &alts,
+                &quals,
+                &filters,
+                Some(&builders_to_arrays(&mut info_builders.2)), projection.clone(),
+                // if infos.is_empty() { None } else { Some(&infos) },
+            )?;
+            yield batch;
+        }
+    };
+    Ok(stream)
+}
+
+fn set_info_builders(
+    batch_size: usize,
+    info_fields: Option<Vec<String>>,
+    infos: &Infos,
+    info_builders: &mut (Vec<String>, Vec<DataType>, Vec<OptionalField>),
+) {
+    for f in info_fields.unwrap_or_default() {
+        let data_type = info_to_arrow_type(infos, &f);
+        let field = OptionalField::new(&data_type, batch_size).unwrap();
+        info_builders.0.push(f);
+        info_builders.1.push(data_type);
+        info_builders.2.push(field);
+    }
+}
+
+async fn get_stream(
+    file_path: String,
+    schema_ref: SchemaRef,
+    batch_size: usize,
+    thread_num: Option<usize>,
+    info_fields: Option<Vec<String>>,
+    projection: Option<Vec<usize>>,
+    chunk_size: usize,
+    concurrent_fetches: usize,
+) -> datafusion::error::Result<SendableRecordBatchStream> {
+    // Open the BGZF-indexed VCF using IndexedReader.
+
+    let file_path = file_path.clone();
+    let store_type = get_storage_type(file_path.clone());
+    let schema = schema_ref.clone();
+
+    match store_type {
+        StorageType::LOCAL => {
+            let stream = get_local_vcf(
+                file_path.clone(),
+                schema.clone(),
+                batch_size,
+                thread_num,
+                info_fields,
+                projection,
+            )
+            .await?;
+            Ok(Box::pin(RecordBatchStreamAdapter::new(schema_ref, stream)))
+        }
+        StorageType::GCS | StorageType::S3 => {
+            let stream = get_remote_vcf_stream(
+                file_path.clone(),
+                schema.clone(),
+                batch_size,
+                info_fields,
+                projection,
+                chunk_size,
+                concurrent_fetches,
+            )
+            .await?;
+            Ok(Box::pin(RecordBatchStreamAdapter::new(schema_ref, stream)))
+        }
+        _ => panic!("Unsupported storage type"),
+    }
+}
+
+#[allow(dead_code)]
+pub struct VcfExec {
+    pub(crate) file_path: String,
+    pub(crate) schema: SchemaRef,
+    pub(crate) projection: Option<Vec<usize>>,
+    pub(crate) info_fields: Option<Vec<String>>,
+    pub(crate) format_fields: Option<Vec<String>>,
+    pub(crate) cache: PlanProperties,
+    pub(crate) limit: Option<usize>,
+    pub(crate) thread_num: Option<usize>,
+    pub(crate) chunk_size: Option<usize>,
+    pub(crate) concurrent_fetches: Option<usize>,
+}
+
+impl Debug for VcfExec {
+    fn fmt(&self, _f: &mut Formatter<'_>) -> std::fmt::Result {
+        Ok(())
+    }
+}
+
+impl DisplayAs for VcfExec {
+    fn fmt_as(&self, _t: DisplayFormatType, _f: &mut Formatter) -> std::fmt::Result {
+        Ok(())
+    }
+}
+
+impl ExecutionPlan for VcfExec {
+    fn name(&self) -> &str {
+        "VCFExec"
+    }
+
+    fn as_any(&self) -> &dyn Any {
+        self
+    }
+
+    fn properties(&self) -> &PlanProperties {
+        &self.cache
+    }
+
+    fn children(&self) -> Vec<&Arc<dyn ExecutionPlan>> {
+        vec![]
+    }
+
+    fn with_new_children(
+        self: Arc<Self>,
+        _children: Vec<Arc<dyn ExecutionPlan>>,
+    ) -> datafusion::common::Result<Arc<dyn ExecutionPlan>> {
+        Ok(self)
+    }
+
+    fn execute(
+        &self,
+        _partition: usize,
+        context: Arc<TaskContext>,
+    ) -> datafusion::common::Result<SendableRecordBatchStream> {
+        debug!("VcfExec::execute");
+        debug!("Projection: {:?}", self.projection);
+        let batch_size = context.session_config().batch_size();
+        let schema = self.schema.clone();
+        let fut = get_stream(
+            self.file_path.clone(),
+            schema.clone(),
+            batch_size,
+            self.thread_num,
+            self.info_fields.clone(),
+            self.projection.clone(),
+            self.chunk_size.unwrap_or(64),
+            self.concurrent_fetches.unwrap_or(8),
+        );
+        let stream = futures::stream::once(fut).try_flatten();
+        Ok(Box::pin(RecordBatchStreamAdapter::new(schema, stream)))
+    }
+}
diff --git a/datafusion/vcf/src/storage.rs b/datafusion/vcf/src/storage.rs
new file mode 100644
index 0000000..5113b75
--- /dev/null
+++ b/datafusion/vcf/src/storage.rs
@@ -0,0 +1,607 @@
+use bytes::Bytes;
+use datafusion::arrow;
+use datafusion::arrow::array::StringBuilder;
+use datafusion::arrow::datatypes::SchemaRef;
+use futures::stream::BoxStream;
+use futures::{StreamExt, stream};
+use log::debug;
+use noodles::vcf::io::Reader;
+use noodles::vcf::{Header, Record};
+use noodles::{bgzf, vcf};
+use noodles_bgzf::{AsyncReader, MultithreadedReader};
+use opendal::layers::{LoggingLayer, RetryLayer, TimeoutLayer};
+use opendal::services::S3;
+use opendal::{FuturesBytesStream, Operator};
+use std::fs::File;
+use std::io::Error;
+use std::num::NonZero;
+use std::sync::Arc;
+use tokio::io::BufReader;
+use tokio_util::io::StreamReader;
+
+pub enum CompressionType {
+    GZIP,
+    BGZF,
+    NONE,
+}
+
+impl CompressionType {
+    fn from_string(compression_type: String) -> Self {
+        match compression_type.to_lowercase().as_str() {
+            "gz" => CompressionType::GZIP,
+            "bgz" => CompressionType::BGZF,
+            "none" => CompressionType::NONE,
+            _ => panic!("Invalid compression type"),
+        }
+    }
+}
+
+pub enum StorageType {
+    GCS,
+    S3,
+    AZBLOB,
+    LOCAL,
+}
+
+impl StorageType {
+    fn from_string(object_storage_type: String) -> Self {
+        match object_storage_type.as_str() {
+            "gs" => StorageType::GCS,
+            "s3" => StorageType::S3,
+            "abfs" => StorageType::AZBLOB,
+            "local" => StorageType::LOCAL,
+            "file" => StorageType::LOCAL,
+            _ => panic!("Invalid object storage type"),
+        }
+    }
+}
+
+fn get_file_path(file_path: String) -> String {
+    //extract the file path from the file path
+    let file_path = file_path
+        .split("://")
+        .last()
+        .unwrap()
+        .split('/')
+        .skip(1)
+        .collect::<Vec<&str>>()
+        .join("/");
+    //return the file path
+    file_path.to_string()
+}
+
+pub fn get_compression_type(file_path: String) -> CompressionType {
+    //extract the file extension from path
+    if file_path.to_lowercase().ends_with(".vcf") {
+        return CompressionType::NONE;
+    }
+    let file_extension = file_path.split('.').last().unwrap();
+    //return the compression type
+    CompressionType::from_string(file_extension.to_string())
+}
+
+pub async fn get_remote_stream_bgzf(
+    file_path: String,
+    chunk_size: usize,
+    concurrent_fetches: usize,
+) -> Result<AsyncReader<StreamReader<FuturesBytesStream, bytes::Bytes>>, opendal::Error> {
+    let remote_stream = StreamReader::new(
+        get_remote_stream(file_path.clone(), chunk_size, concurrent_fetches).await?,
+    );
+    Ok(bgzf::r#async::Reader::new(remote_stream))
+}
+
+pub fn get_storage_type(file_path: String) -> StorageType {
+    //extract the file system prefix from the file path
+    let file_system_prefix = file_path.split("://").next();
+    let file_system_prefix = if file_path == file_system_prefix.unwrap() {
+        None
+    } else {
+        file_system_prefix
+    };
+    match file_system_prefix {
+        Some(prefix) => StorageType::from_string(prefix.to_string()),
+        None => StorageType::LOCAL,
+    }
+}
+
+fn get_bucket_name(file_path: String) -> String {
+    //extract the bucket name from the file path
+    let bucket_name = file_path
+        .split("://")
+        .last()
+        .unwrap()
+        .split('/')
+        .next()
+        .unwrap();
+    //return the bucket name
+    bucket_name.to_string()
+}
+
+pub async fn get_remote_stream(
+    file_path: String,
+    chunk_size: usize,
+    concurrent_fetches: usize,
+) -> Result<FuturesBytesStream, opendal::Error> {
+    let storage_type = get_storage_type(file_path.clone());
+    let bucket_name = get_bucket_name(file_path.clone());
+    let file_path = get_file_path(file_path.clone());
+
+    match storage_type {
+        StorageType::S3 => {
+            let builder = S3::default()
+                .region(
+                    &S3::detect_region("https://s3.amazonaws.com", bucket_name.as_str())
+                        .await
+                        .unwrap(),
+                )
+                .bucket(bucket_name.as_str())
+                .disable_ec2_metadata()
+                .allow_anonymous();
+
+            let operator = Operator::new(builder)?
+                .layer(TimeoutLayer::new().with_io_timeout(std::time::Duration::from_secs(300))) // 5 minutes
+                .layer(RetryLayer::new().with_max_times(5)) // Retry up to 5 times
+                .layer(LoggingLayer::default())
+                .finish();
+
+            // Reduce chunk size and increase concurrency for better reliability
+            let adjusted_chunk_size = chunk_size.min(8 * 1024 * 1024); // Max 8MB chunks
+            let adjusted_concurrency = concurrent_fetches.max(4); // Min 4 concurrent fetches
+
+            operator
+                .reader_with(file_path.as_str())
+                .chunk(adjusted_chunk_size)
+                .concurrent(adjusted_concurrency)
+                .await?
+                .into_bytes_stream(..)
+                .await
+        }
+        _ => panic!("Invalid object storage type"),
+    }
+}
+
+pub async fn get_remote_vcf_bgzf_reader(
+    file_path: String,
+    chunk_size: usize,
+    concurrent_fetches: usize,
+) -> vcf::r#async::io::Reader<AsyncReader<StreamReader<FuturesBytesStream, Bytes>>> {
+    let inner = get_remote_stream_bgzf(file_path.clone(), chunk_size, concurrent_fetches)
+        .await
+        .unwrap();
+    let reader = vcf::r#async::io::Reader::new(inner);
+    reader
+}
+
+pub async fn get_remote_vcf_reader(
+    file_path: String,
+    chunk_size: usize,
+    concurrent_fetches: usize,
+) -> vcf::r#async::io::Reader<StreamReader<FuturesBytesStream, Bytes>> {
+    let inner = StreamReader::new(
+        get_remote_stream(file_path.clone(), chunk_size, concurrent_fetches)
+            .await
+            .unwrap(),
+    );
+    vcf::r#async::io::Reader::new(inner)
+}
+
+pub fn get_local_vcf_bgzf_reader(
+    file_path: String,
+    thread_num: usize,
+) -> Result<Reader<MultithreadedReader<File>>, Error> {
+    debug!(
+        "Reading VCF file from local storage with {} threads",
+        thread_num
+    );
+    File::open(file_path)
+        .map(|f| {
+            noodles_bgzf::MultithreadedReader::with_worker_count(
+                NonZero::new(thread_num).unwrap(),
+                f,
+            )
+        })
+        .map(vcf::io::Reader::new)
+}
+
+pub async fn get_local_vcf_reader(
+    file_path: String,
+) -> Result<vcf::r#async::io::Reader<BufReader<tokio::fs::File>>, Error> {
+    debug!("Reading VCF file from local storage with async reader");
+    let reader = tokio::fs::File::open(file_path)
+        .await
+        .map(BufReader::new)
+        .map(vcf::r#async::io::Reader::new)?;
+    Ok(reader)
+}
+
+pub async fn get_local_vcf_header(
+    file_path: String,
+    thread_num: usize,
+) -> Result<vcf::Header, Error> {
+    let compression_type = get_compression_type(file_path.clone());
+    let header = match compression_type {
+        CompressionType::BGZF | CompressionType::GZIP => {
+            let mut reader = get_local_vcf_bgzf_reader(file_path, thread_num)?;
+            reader.read_header()?
+        }
+        CompressionType::NONE => {
+            let mut reader = get_local_vcf_reader(file_path).await?;
+            reader.read_header().await?
+        }
+    };
+    Ok(header)
+}
+
+pub async fn get_remote_vcf_header(
+    file_path: String,
+    chunk_size: usize,
+    concurrent_fetches: usize,
+) -> Result<vcf::Header, Error> {
+    let compression_type = get_compression_type(file_path.clone());
+    let header = match compression_type {
+        CompressionType::BGZF | CompressionType::GZIP => {
+            let mut reader =
+                get_remote_vcf_bgzf_reader(file_path, chunk_size, concurrent_fetches).await;
+            reader.read_header().await?
+        }
+        CompressionType::NONE => {
+            let mut reader = get_remote_vcf_reader(file_path, chunk_size, concurrent_fetches).await;
+            reader.read_header().await?
+        }
+    };
+    Ok(header)
+}
+
+pub async fn get_header(file_path: String) -> Result<vcf::Header, Error> {
+    let storage_type = get_storage_type(file_path.clone());
+    let header = match storage_type {
+        StorageType::LOCAL => get_local_vcf_header(file_path, 1).await?,
+        _ => get_remote_vcf_header(file_path, 64, 1).await?,
+    };
+    Ok(header)
+}
+
+pub enum VcfRemoteReader {
+    BGZF(vcf::r#async::io::Reader<AsyncReader<StreamReader<FuturesBytesStream, Bytes>>>),
+    PLAIN(vcf::r#async::io::Reader<StreamReader<FuturesBytesStream, Bytes>>),
+}
+
+impl VcfRemoteReader {
+    pub async fn new(file_path: String, chunk_size: usize, concurrent_fetches: usize) -> Self {
+        let compression_type = get_compression_type(file_path.clone());
+        match compression_type {
+            CompressionType::BGZF | CompressionType::GZIP => {
+                let reader =
+                    get_remote_vcf_bgzf_reader(file_path, chunk_size, concurrent_fetches).await;
+                VcfRemoteReader::BGZF(reader)
+            }
+            CompressionType::NONE => {
+                let reader = get_remote_vcf_reader(file_path, chunk_size, concurrent_fetches).await;
+                VcfRemoteReader::PLAIN(reader)
+            }
+        }
+    }
+
+    pub async fn read_header(&mut self) -> Result<vcf::Header, Error> {
+        match self {
+            VcfRemoteReader::BGZF(reader) => reader.read_header().await,
+            VcfRemoteReader::PLAIN(reader) => reader.read_header().await,
+        }
+    }
+
+    pub async fn describe(&mut self) -> Result<arrow::array::RecordBatch, Error> {
+        match self {
+            VcfRemoteReader::BGZF(reader) => {
+                let header = reader.read_header().await?;
+                Ok(get_info_fields(&header).await)
+            }
+            VcfRemoteReader::PLAIN(reader) => {
+                let header = reader.read_header().await?;
+                Ok(get_info_fields(&header).await)
+            }
+        }
+    }
+
+    pub async fn read_records(&mut self) -> BoxStream<'_, Result<Record, Error>> {
+        match self {
+            VcfRemoteReader::BGZF(reader) => reader.records().boxed(),
+            VcfRemoteReader::PLAIN(reader) => reader.records().boxed(),
+        }
+    }
+}
+
+pub enum VcfLocalReader {
+    BGZF(Reader<MultithreadedReader<File>>),
+    PLAIN(vcf::r#async::io::Reader<BufReader<tokio::fs::File>>),
+}
+
+impl VcfLocalReader {
+    pub async fn new(file_path: String, thread_num: usize) -> Self {
+        let compression_type = get_compression_type(file_path.clone());
+        match compression_type {
+            CompressionType::BGZF | CompressionType::GZIP => {
+                let reader = get_local_vcf_bgzf_reader(file_path, thread_num).unwrap();
+                VcfLocalReader::BGZF(reader)
+            }
+            CompressionType::NONE => {
+                let reader = get_local_vcf_reader(file_path).await.unwrap();
+                VcfLocalReader::PLAIN(reader)
+            }
+        }
+    }
+
+    pub async fn read_header(&mut self) -> Result<vcf::Header, Error> {
+        match self {
+            VcfLocalReader::BGZF(reader) => reader.read_header(),
+            VcfLocalReader::PLAIN(reader) => reader.read_header().await,
+        }
+    }
+
+    pub fn read_records(&mut self) -> BoxStream<'_, Result<Record, Error>> {
+        match self {
+            VcfLocalReader::BGZF(reader) => stream::iter(reader.records()).boxed(),
+            VcfLocalReader::PLAIN(reader) => reader.records().boxed(),
+        }
+    }
+
+    pub async fn describe(&mut self) -> Result<arrow::array::RecordBatch, Error> {
+        match self {
+            VcfLocalReader::BGZF(reader) => {
+                let header = reader.read_header()?;
+                Ok(get_info_fields(&header).await)
+            }
+            VcfLocalReader::PLAIN(reader) => {
+                let header = reader.read_header().await?;
+                Ok(get_info_fields(&header).await)
+            }
+        }
+    }
+}
+
+pub async fn get_info_fields(header: &Header) -> arrow::array::RecordBatch {
+    let info_fields = header.infos();
+    let mut field_names = StringBuilder::new();
+    let mut field_types = StringBuilder::new();
+    let mut field_descriptions = StringBuilder::new();
+    for (field_name, field) in info_fields {
+        field_names.append_value(field_name);
+        field_types.append_value(field.ty().to_string());
+        field_descriptions.append_value(field.description());
+    }
+    // build RecordBatch
+    let field_names = field_names.finish();
+    let field_types = field_types.finish();
+    let field_descriptions = field_descriptions.finish();
+    let schema = arrow::datatypes::Schema::new(vec![
+        arrow::datatypes::Field::new("name", arrow::datatypes::DataType::Utf8, false),
+        arrow::datatypes::Field::new("type", arrow::datatypes::DataType::Utf8, false),
+        arrow::datatypes::Field::new("description", arrow::datatypes::DataType::Utf8, false),
+    ]);
+    let record_batch = arrow::record_batch::RecordBatch::try_new(
+        SchemaRef::from(schema.clone()),
+        vec![
+            Arc::new(field_names),
+            Arc::new(field_types),
+            Arc::new(field_descriptions),
+        ],
+    )
+    .unwrap();
+    record_batch
+}
+
+pub enum VcfReader {
+    Local(VcfLocalReader),
+    Remote(VcfRemoteReader),
+}
+
+impl VcfReader {
+    pub async fn new(
+        file_path: String,
+        thread_num: Option<usize>,
+        chunk_size: Option<usize>,
+        concurrency_fetches: Option<usize>,
+    ) -> Self {
+        let storage_type = get_storage_type(file_path.clone());
+        match storage_type {
+            StorageType::LOCAL => {
+                VcfReader::Local(VcfLocalReader::new(file_path, thread_num.unwrap_or(1)).await)
+            }
+            _ => VcfReader::Remote(
+                VcfRemoteReader::new(
+                    file_path,
+                    chunk_size.unwrap_or(64),
+                    concurrency_fetches.unwrap_or(8),
+                )
+                .await,
+            ),
+        }
+    }
+
+    pub async fn read_header(&mut self) -> Result<vcf::Header, Error> {
+        match self {
+            VcfReader::Local(reader) => reader.read_header().await,
+            VcfReader::Remote(reader) => reader.read_header().await,
+        }
+    }
+
+    pub async fn describe(&mut self) -> Result<arrow::array::RecordBatch, Error> {
+        match self {
+            VcfReader::Local(reader) => reader.describe().await,
+            VcfReader::Remote(reader) => reader.describe().await,
+        }
+    }
+
+    pub async fn read_records(&mut self) -> BoxStream<'_, Result<Record, Error>> {
+        match self {
+            VcfReader::Local(reader) => reader.read_records(),
+            VcfReader::Remote(reader) => reader.read_records().await,
+        }
+    }
+}
+
+#[cfg(test)]
+mod tests {
+    use super::*;
+
+    #[test]
+    fn test_compression_type_from_string() {
+        assert!(matches!(
+            CompressionType::from_string("gz".to_string()),
+            CompressionType::GZIP
+        ));
+        assert!(matches!(
+            CompressionType::from_string("bgz".to_string()),
+            CompressionType::BGZF
+        ));
+        assert!(matches!(
+            CompressionType::from_string("none".to_string()),
+            CompressionType::NONE
+        ));
+    }
+
+    #[test]
+    fn test_get_file_path() {
+        let file_path = "s3://bucket/path/to/file.vcf.bgz".to_string();
+        assert_eq!(get_file_path(file_path), "path/to/file.vcf.bgz");
+    }
+
+    #[test]
+    fn test_get_compression_type() {
+        assert!(matches!(
+            get_compression_type("file.vcf".to_string()),
+            CompressionType::NONE
+        ));
+        assert!(matches!(
+            get_compression_type("file.vcf.gz".to_string()),
+            CompressionType::GZIP
+        ));
+        assert!(matches!(
+            get_compression_type("file.vcf.bgz".to_string()),
+            CompressionType::BGZF
+        ));
+    }
+
+    #[test]
+    fn test_get_storage_type_with_file_prefix() {
+        let file_path = "file://path/to/file".to_string();
+        assert!(matches!(get_storage_type(file_path), StorageType::LOCAL));
+    }
+
+    #[test]
+    fn test_get_bucket_name_with_gcs() {
+        let file_path = "gs://my-bucket/path/to/file".to_string();
+        let expected_bucket_name = "my-bucket";
+        assert_eq!(get_bucket_name(file_path), expected_bucket_name);
+    }
+
+    #[test]
+    fn test_get_bucket_name_with_azblob() {
+        let file_path = "abfs://my-container/path/to/file".to_string();
+        let expected_bucket_name = "my-container";
+        assert_eq!(get_bucket_name(file_path), expected_bucket_name);
+    }
+
+    #[test]
+    fn test_get_storage_type_local() {
+        let file_path = "local://path/to/file".to_string();
+        assert!(matches!(get_storage_type(file_path), StorageType::LOCAL));
+    }
+
+    #[test]
+    fn test_get_storage_type_remote() {
+        let file_path = "s3://bucket/path/to/file".to_string();
+        assert!(matches!(get_storage_type(file_path), StorageType::S3));
+    }
+
+    #[test]
+    fn test_get_bucket_name() {
+        let file_path = "s3://my-bucket/path/to/file".to_string();
+        let expected_bucket_name = "my-bucket";
+        assert_eq!(get_bucket_name(file_path), expected_bucket_name);
+    }
+
+    #[test]
+    fn test_get_local_vcf_bgzf_reader_local() {
+        let file_path = "testdata/mock_chr21.vcf.bgz".to_string();
+        let thread_num = 1;
+        let mut reader = get_local_vcf_bgzf_reader(file_path, thread_num).unwrap();
+        let header = reader.read_header().unwrap();
+        assert!(header.infos().len() > 0);
+    }
+
+    #[tokio::test]
+    async fn test_get_local_vcf_header_local() {
+        let file_path = "testdata/mock_chr21.vcf.bgz".to_string();
+        let thread_num = 1;
+        let header = get_local_vcf_header(file_path, thread_num).await.unwrap();
+        assert!(header.infos().len() > 0);
+    }
+
+    #[tokio::test]
+    async fn test_get_header_local() {
+        let file_path = "testdata/mock_chr21.vcf.bgz".to_string();
+        let header = get_header(file_path).await.unwrap();
+        assert!(header.infos().len() > 0);
+    }
+
+    #[tokio::test]
+    async fn test_vcf_local_reader_new_bgzf() {
+        let file_path = "testdata/mock_chr21.vcf.bgz".to_string();
+        let thread_num = 2;
+        let vcf_reader = VcfLocalReader::new(file_path, thread_num).await;
+        assert!(matches!(vcf_reader, VcfLocalReader::BGZF(_)));
+    }
+
+    #[tokio::test]
+    async fn test_vcf_local_reader_read_header_bgzf() {
+        let file_path = "testdata/mock_chr21.vcf.bgz".to_string();
+        let thread_num = 2;
+        let mut vcf_reader = VcfLocalReader::new(file_path, thread_num).await;
+        let header = vcf_reader.read_header().await.unwrap();
+        assert!(header.infos().len() > 0);
+    }
+
+    #[tokio::test]
+    async fn test_vcf_local_reader_describe_bgzf() {
+        let file_path = "testdata/mock_chr21.vcf.bgz".to_string();
+        let thread_num = 2;
+        let mut vcf_reader = VcfLocalReader::new(file_path, thread_num).await;
+        let record_batch = vcf_reader.describe().await.unwrap();
+        assert!(record_batch.num_columns() > 0);
+    }
+
+    #[tokio::test]
+    async fn test_vcf_local_reader_read_records_bgzf() {
+        let file_path = "testdata/mock_chr21.vcf.bgz".to_string();
+        let thread_num = 2;
+        let mut vcf_reader = VcfLocalReader::new(file_path, thread_num).await;
+        let mut records = vcf_reader.read_records();
+        assert!(records.next().await.is_some());
+    }
+
+    #[tokio::test]
+    async fn test_vcf_reader_read_header_remote_bgzf() {
+        let file_path = "testdata/mock_chr21.vcf.bgz".to_string();
+        let mut vcf_reader = VcfReader::new(file_path, None, Some(64), Some(8)).await;
+        let header = vcf_reader.read_header().await.unwrap();
+        assert!(header.infos().len() > 0);
+    }
+
+    #[tokio::test]
+    async fn test_vcf_reader_describe_remote_bgzf() {
+        let file_path = "testdata/mock_chr21.vcf.bgz".to_string();
+        let mut vcf_reader = VcfReader::new(file_path, None, Some(64), Some(8)).await;
+        let record_batch = vcf_reader.describe().await.unwrap();
+        assert!(record_batch.num_columns() > 0);
+    }
+
+    #[tokio::test]
+    async fn test_vcf_reader_read_records_remote_bgzf() {
+        let file_path = "testdata/mock_chr21.vcf.bgz".to_string();
+        let mut vcf_reader = VcfReader::new(file_path, None, Some(64), Some(8)).await;
+        let mut records = vcf_reader.read_records().await;
+        let first_record = records.next().await;
+        assert!(first_record.is_some());
+    }
+}
diff --git a/datafusion/vcf/src/table_provider.rs b/datafusion/vcf/src/table_provider.rs
new file mode 100644
index 0000000..b844dd0
--- /dev/null
+++ b/datafusion/vcf/src/table_provider.rs
@@ -0,0 +1,364 @@
+use crate::physical_exec::VcfExec;
+use crate::storage::get_header;
+use async_trait::async_trait;
+use datafusion::arrow::array::{
+    ArrayRef, BooleanBuilder, Float32Builder, Int32Builder, ListBuilder, StringBuilder,
+};
+use datafusion::arrow::datatypes::{DataType, Field, Schema, SchemaRef};
+use datafusion::arrow::error::ArrowError;
+use datafusion::catalog::{Session, TableProvider};
+use datafusion::datasource::TableType;
+use datafusion::logical_expr::Expr;
+use datafusion::physical_expr::{EquivalenceProperties, Partitioning};
+use datafusion::physical_plan::{ExecutionMode, ExecutionPlan, PlanProperties};
+use futures::executor::block_on;
+use log::debug;
+use noodles::vcf::header::Formats;
+use noodles::vcf::header::Infos;
+use noodles::vcf::header::record::value::map::format::Type as FormatType;
+use noodles::vcf::header::record::value::map::info::{Number, Type as InfoType};
+use std::any::Any;
+use std::fmt::Debug;
+use std::sync::Arc;
+
+async fn determine_schema_from_header(
+    file_path: &str,
+    info_fields: &Option<Vec<String>>,
+    format_fields: &Option<Vec<String>>,
+) -> datafusion::common::Result<SchemaRef> {
+    let header = get_header(file_path.to_string()).await?;
+    let header_infos = header.infos();
+    let header_formats = header.formats();
+
+    let mut fields = vec![
+        Field::new("chrom", DataType::Utf8, false),
+        Field::new("start", DataType::UInt32, false),
+        Field::new("end", DataType::UInt32, false),
+        Field::new("id", DataType::Utf8, true),
+        Field::new("ref", DataType::Utf8, false),
+        Field::new("alt", DataType::Utf8, false),
+        Field::new("qual", DataType::Float64, true),
+        Field::new("filter", DataType::Utf8, true),
+    ];
+
+    match info_fields {
+        Some(infos) => {
+            for tag in infos {
+                let dtype = info_to_arrow_type(&header_infos, &tag);
+                let info = header_infos.get(tag.as_str()).unwrap();
+                let nullable = is_nullable(&info.ty());
+                fields.push(Field::new(tag.to_lowercase(), dtype, nullable));
+            }
+        }
+        _ => {}
+    }
+
+    match format_fields {
+        Some(formats) => {
+            for tag in formats {
+                let dtype = format_to_arrow_type(&header_formats, &tag);
+                fields.push(Field::new(
+                    format!("format_{}", tag.to_lowercase()),
+                    dtype,
+                    true,
+                ));
+            }
+        }
+        _ => {}
+    }
+
+    let schema = Schema::new(fields);
+    // println!("Schema: {:?}", schema);
+    Ok(Arc::new(schema))
+}
+
+fn is_nullable(ty: &InfoType) -> bool {
+    !matches!(ty, InfoType::Flag)
+}
+
+fn format_to_arrow_type(formats: &Formats, field: &str) -> DataType {
+    let format = formats.get(field).unwrap();
+    match format.ty() {
+        FormatType::Integer => DataType::Int32,
+        FormatType::Float => DataType::Float32,
+        FormatType::Character => DataType::Utf8,
+        FormatType::String => DataType::Utf8,
+    }
+}
+
+#[derive(Clone, Debug)]
+pub struct VcfTableProvider {
+    file_path: String,
+    info_fields: Option<Vec<String>>,
+    format_fields: Option<Vec<String>>,
+    schema: SchemaRef,
+    thread_num: Option<usize>,
+    chunk_size: Option<usize>,
+    concurrent_fetches: Option<usize>,
+}
+
+impl VcfTableProvider {
+    pub fn new(
+        file_path: String,
+        info_fields: Option<Vec<String>>,
+        format_fields: Option<Vec<String>>,
+        thread_num: Option<usize>,
+        chunk_size: Option<usize>,
+        concurrent_fetches: Option<usize>,
+    ) -> datafusion::common::Result<Self> {
+        let schema = block_on(determine_schema_from_header(
+            &file_path,
+            &info_fields,
+            &format_fields,
+        ))?;
+        Ok(Self {
+            file_path,
+            info_fields,
+            format_fields,
+            schema,
+            thread_num,
+            chunk_size,
+            concurrent_fetches,
+        })
+    }
+}
+
+#[async_trait]
+impl TableProvider for VcfTableProvider {
+    fn as_any(&self) -> &dyn Any {
+        self
+        // todo!()
+    }
+
+    fn schema(&self) -> SchemaRef {
+        debug!("VcfTableProvider::schema");
+        self.schema.clone()
+    }
+
+    fn table_type(&self) -> TableType {
+        TableType::Base
+        // todo!()
+    }
+
+    async fn scan(
+        &self,
+        _state: &dyn Session,
+        projection: Option<&Vec<usize>>,
+        _filters: &[Expr],
+        limit: Option<usize>,
+    ) -> datafusion::common::Result<Arc<dyn ExecutionPlan>> {
+        debug!("VcfTableProvider::scan");
+
+        fn project_schema(schema: &SchemaRef, projection: Option<&Vec<usize>>) -> SchemaRef {
+            match projection {
+                Some(indices) if indices.is_empty() => {
+                    Arc::new(Schema::new(vec![Field::new("dummy", DataType::Null, true)]))
+                }
+                Some(indices) => {
+                    let projected_fields: Vec<Field> =
+                        indices.iter().map(|&i| schema.field(i).clone()).collect();
+                    Arc::new(Schema::new(projected_fields))
+                }
+                None => schema.clone(),
+            }
+        }
+
+        let schema = project_schema(&self.schema, projection);
+
+        Ok(Arc::new(VcfExec {
+            cache: PlanProperties::new(
+                EquivalenceProperties::new(schema.clone()),
+                Partitioning::UnknownPartitioning(1),
+                ExecutionMode::Bounded,
+            ),
+            file_path: self.file_path.clone(),
+            schema: schema.clone(),
+            info_fields: self.info_fields.clone(),
+            format_fields: self.format_fields.clone(),
+            projection: projection.cloned(),
+            limit,
+            thread_num: self.thread_num,
+            chunk_size: self.chunk_size,
+            concurrent_fetches: self.concurrent_fetches,
+        }))
+    }
+}
+
+pub fn info_to_arrow_type(infos: &Infos, field: &str) -> DataType {
+    match infos.get(field) {
+        Some(t) => {
+            let inner = match t.ty() {
+                InfoType::Integer => DataType::Int32,
+                InfoType::String | InfoType::Character => DataType::Utf8,
+                InfoType::Float => DataType::Float32,
+                InfoType::Flag => DataType::Boolean,
+            };
+
+            match t.number() {
+                Number::Count(0) | Number::Count(1) => inner,
+                Number::Count(_)
+                | Number::Unknown
+                | Number::AlternateBases
+                | Number::ReferenceAlternateBases
+                | Number::Samples => DataType::List(Arc::new(Field::new("item", inner, true))),
+            }
+        }
+        None => {
+            log::warn!(
+                "VCF tag '{}' not found in header; defaulting to Utf8",
+                field
+            );
+            DataType::Utf8
+        }
+    }
+}
+
+#[derive(Debug)]
+pub enum OptionalField {
+    Int32Builder(Int32Builder),
+    ArrayInt32Builder(ListBuilder<Int32Builder>),
+    Float32Builder(Float32Builder),
+    ArrayFloat32Builder(ListBuilder<Float32Builder>),
+    BooleanBuilder(BooleanBuilder),
+    ArrayBooleanBuilder(ListBuilder<BooleanBuilder>),
+    Utf8Builder(StringBuilder),
+    ArrayUtf8Builder(ListBuilder<StringBuilder>),
+}
+
+impl OptionalField {
+    pub(crate) fn new(
+        data_type: &DataType,
+        batch_size: usize,
+    ) -> Result<OptionalField, ArrowError> {
+        match data_type {
+            DataType::Int32 => Ok(OptionalField::Int32Builder(Int32Builder::with_capacity(
+                batch_size,
+            ))),
+            DataType::Float32 => Ok(OptionalField::Float32Builder(
+                Float32Builder::with_capacity(batch_size),
+            )),
+            DataType::Utf8 => Ok(OptionalField::Utf8Builder(StringBuilder::with_capacity(
+                batch_size,
+                batch_size * 10,
+            ))),
+            DataType::Boolean => Ok(OptionalField::BooleanBuilder(
+                BooleanBuilder::with_capacity(batch_size),
+            )),
+
+            DataType::List(f) => match f.data_type() {
+                DataType::Int32 => Ok(OptionalField::ArrayInt32Builder(
+                    ListBuilder::with_capacity(Int32Builder::with_capacity(batch_size), batch_size),
+                )),
+                DataType::Float32 => Ok(OptionalField::ArrayFloat32Builder(
+                    ListBuilder::with_capacity(
+                        Float32Builder::with_capacity(batch_size),
+                        batch_size,
+                    ),
+                )),
+                DataType::Utf8 => Ok(OptionalField::ArrayUtf8Builder(ListBuilder::with_capacity(
+                    StringBuilder::with_capacity(batch_size, batch_size * 10),
+                    batch_size,
+                ))),
+                DataType::Boolean => Ok(OptionalField::ArrayBooleanBuilder(
+                    ListBuilder::with_capacity(
+                        BooleanBuilder::with_capacity(batch_size),
+                        batch_size,
+                    ),
+                )),
+                _ => Err(ArrowError::SchemaError(
+                    "Unsupported list inner data type".into(),
+                )),
+            },
+
+            _ => Err(ArrowError::SchemaError("Unsupported data type".into())),
+        }
+    }
+
+    pub fn append_int(&mut self, value: i32) -> Result<(), ArrowError> {
+        match self {
+            OptionalField::Int32Builder(builder) => Ok(builder.append_value(value)),
+            _ => Err(ArrowError::SchemaError("Invalid builder".into())),
+        }
+    }
+
+    pub fn append_boolean(&mut self, value: bool) -> Result<(), ArrowError> {
+        match self {
+            OptionalField::BooleanBuilder(builder) => Ok(builder.append_value(value)),
+            _ => Err(ArrowError::SchemaError("Expected BooleanBuilder".into())),
+        }
+    }
+
+    pub fn append_array_int(&mut self, value: Vec<i32>) -> Result<(), ArrowError> {
+        match self {
+            OptionalField::ArrayInt32Builder(builder) => {
+                builder.values().append_slice(&value);
+                Ok(builder.append(true))
+            }
+            _ => Err(ArrowError::SchemaError("Expected ArrayInt32Builder".into())),
+        }
+    }
+
+    pub fn append_float(&mut self, value: f32) -> Result<(), ArrowError> {
+        match self {
+            OptionalField::Float32Builder(builder) => Ok(builder.append_value(value)),
+            _ => Err(ArrowError::SchemaError("Expected Float32Builder".into())),
+        }
+    }
+
+    pub fn append_array_float(&mut self, value: Vec<f32>) -> Result<(), ArrowError> {
+        match self {
+            OptionalField::ArrayFloat32Builder(builder) => {
+                builder.values().append_slice(&value);
+                Ok(builder.append(true))
+            }
+            _ => Err(ArrowError::SchemaError(
+                "Expected ArrayFloat32Builder".into(),
+            )),
+        }
+    }
+
+    pub fn append_string(&mut self, value: &str) -> Result<(), ArrowError> {
+        match self {
+            OptionalField::Utf8Builder(builder) => Ok(builder.append_value(value)),
+            _ => Err(ArrowError::SchemaError("Expected Utf8Builder".into())),
+        }
+    }
+
+    pub fn append_array_string(&mut self, value: Vec<String>) -> Result<(), ArrowError> {
+        match self {
+            OptionalField::ArrayUtf8Builder(builder) => {
+                for v in value {
+                    builder.values().append_value(&v);
+                }
+                Ok(builder.append(true))
+            }
+            _ => Err(ArrowError::SchemaError("Expected ArrayUtf8Builder".into())),
+        }
+    }
+
+    pub fn append_null(&mut self) -> Result<(), ArrowError> {
+        match self {
+            OptionalField::Int32Builder(builder) => Ok(builder.append_null()),
+            OptionalField::ArrayInt32Builder(builder) => Ok(builder.append_null()),
+            OptionalField::Utf8Builder(builder) => Ok(builder.append_null()),
+            OptionalField::ArrayUtf8Builder(builder) => Ok(builder.append_null()),
+            OptionalField::Float32Builder(builder) => Ok(builder.append_null()),
+            OptionalField::ArrayFloat32Builder(builder) => Ok(builder.append_null()),
+            OptionalField::BooleanBuilder(builder) => Ok(builder.append_null()),
+            OptionalField::ArrayBooleanBuilder(builder) => Ok(builder.append_null()),
+        }
+    }
+
+    pub fn finish(&mut self) -> Result<ArrayRef, ArrowError> {
+        match self {
+            OptionalField::Int32Builder(builder) => Ok(Arc::new(builder.finish())),
+            OptionalField::ArrayInt32Builder(builder) => Ok(Arc::new(builder.finish())),
+            OptionalField::Utf8Builder(builder) => Ok(Arc::new(builder.finish())),
+            OptionalField::ArrayUtf8Builder(builder) => Ok(Arc::new(builder.finish())),
+            OptionalField::Float32Builder(builder) => Ok(Arc::new(builder.finish())),
+            OptionalField::ArrayFloat32Builder(builder) => Ok(Arc::new(builder.finish())),
+            OptionalField::BooleanBuilder(builder) => Ok(Arc::new(builder.finish())),
+            OptionalField::ArrayBooleanBuilder(builder) => Ok(Arc::new(builder.finish())),
+        }
+    }
+}
diff --git a/datafusion/vcf/testdata/mock_chr21.vcf b/datafusion/vcf/testdata/mock_chr21.vcf
new file mode 100644
index 0000000..cb6bd48
--- /dev/null
+++ b/datafusion/vcf/testdata/mock_chr21.vcf
@@ -0,0 +1,786 @@
+##fileformat=VCFv4.2
+##hailversion=0.2.122-be9d88a80695
+##FILTER=<ID=AC0,Description="Allele count is zero after filtering out low-confidence genotypes (GQ < 20; DP < 10; and AB < 0.2 for het calls)">
+##FILTER=<ID=AS_VQSR,Description="Failed VQSR filtering thresholds of -2.502 for SNPs and -0.7156 for indels">
+##FILTER=<ID=InbreedingCoeff,Description="Inbreeding coefficient < -0.3">
+##FILTER=<ID=PASS,Description="Passed all variant filters">
+##INFO=<ID=AC,Number=A,Type=Integer,Description="Alternate allele count">
+##INFO=<ID=AN,Number=1,Type=Integer,Description="Total number of alleles">
+##INFO=<ID=AF,Number=A,Type=Float,Description="Alternate allele frequency">
+##INFO=<ID=grpmax,Number=A,Type=String,Description="Genetic ancestry group with the maximum allele frequency">
+##INFO=<ID=fafmax_faf95_max,Number=A,Type=Float,Description="Maximum filtering allele frequency (using Poisson 95% CI) across genetic ancestry groups">
+##INFO=<ID=fafmax_faf95_max_gen_anc,Number=A,Type=String,Description="Genetic ancestry group with maximum filtering allele frequency (using Poisson 95% CI)">
+##INFO=<ID=AC_XX,Number=A,Type=Integer,Description="Alternate allele count for XX samples">
+##INFO=<ID=AF_XX,Number=A,Type=Float,Description="Alternate allele frequency in XX samples">
+##INFO=<ID=AN_XX,Number=1,Type=Integer,Description="Total number of alleles in XX samples">
+##INFO=<ID=nhomalt_XX,Number=A,Type=Integer,Description="Count of homozygous individuals in XX samples">
+##INFO=<ID=AC_XY,Number=A,Type=Integer,Description="Alternate allele count for XY samples">
+##INFO=<ID=AF_XY,Number=A,Type=Float,Description="Alternate allele frequency in XY samples">
+##INFO=<ID=AN_XY,Number=1,Type=Integer,Description="Total number of alleles in XY samples">
+##INFO=<ID=nhomalt_XY,Number=A,Type=Integer,Description="Count of homozygous individuals in XY samples">
+##INFO=<ID=nhomalt,Number=A,Type=Integer,Description="Count of homozygous individuals">
+##INFO=<ID=AC_afr_XX,Number=A,Type=Integer,Description="Alternate allele count for XX samples in the African/African-American genetic ancestry group">
+##INFO=<ID=AF_afr_XX,Number=A,Type=Float,Description="Alternate allele frequency in XX samples in the African/African-American genetic ancestry group">
+##INFO=<ID=AN_afr_XX,Number=1,Type=Integer,Description="Total number of alleles in XX samples in the African/African-American genetic ancestry group">
+##INFO=<ID=nhomalt_afr_XX,Number=A,Type=Integer,Description="Count of homozygous individuals in XX samples in the African/African-American genetic ancestry group">
+##INFO=<ID=AC_afr_XY,Number=A,Type=Integer,Description="Alternate allele count for XY samples in the African/African-American genetic ancestry group">
+##INFO=<ID=AF_afr_XY,Number=A,Type=Float,Description="Alternate allele frequency in XY samples in the African/African-American genetic ancestry group">
+##INFO=<ID=AN_afr_XY,Number=1,Type=Integer,Description="Total number of alleles in XY samples in the African/African-American genetic ancestry group">
+##INFO=<ID=nhomalt_afr_XY,Number=A,Type=Integer,Description="Count of homozygous individuals in XY samples in the African/African-American genetic ancestry group">
+##INFO=<ID=AC_afr,Number=A,Type=Integer,Description="Alternate allele count for samples in the African/African-American genetic ancestry group">
+##INFO=<ID=AF_afr,Number=A,Type=Float,Description="Alternate allele frequency in samples in the African/African-American genetic ancestry group">
+##INFO=<ID=AN_afr,Number=1,Type=Integer,Description="Total number of alleles in samples in the African/African-American genetic ancestry group">
+##INFO=<ID=nhomalt_afr,Number=A,Type=Integer,Description="Count of homozygous individuals in samples in the African/African-American genetic ancestry group">
+##INFO=<ID=AC_ami_XX,Number=A,Type=Integer,Description="Alternate allele count for XX samples in the Amish genetic ancestry group">
+##INFO=<ID=AF_ami_XX,Number=A,Type=Float,Description="Alternate allele frequency in XX samples in the Amish genetic ancestry group">
+##INFO=<ID=AN_ami_XX,Number=1,Type=Integer,Description="Total number of alleles in XX samples in the Amish genetic ancestry group">
+##INFO=<ID=nhomalt_ami_XX,Number=A,Type=Integer,Description="Count of homozygous individuals in XX samples in the Amish genetic ancestry group">
+##INFO=<ID=AC_ami_XY,Number=A,Type=Integer,Description="Alternate allele count for XY samples in the Amish genetic ancestry group">
+##INFO=<ID=AF_ami_XY,Number=A,Type=Float,Description="Alternate allele frequency in XY samples in the Amish genetic ancestry group">
+##INFO=<ID=AN_ami_XY,Number=1,Type=Integer,Description="Total number of alleles in XY samples in the Amish genetic ancestry group">
+##INFO=<ID=nhomalt_ami_XY,Number=A,Type=Integer,Description="Count of homozygous individuals in XY samples in the Amish genetic ancestry group">
+##INFO=<ID=AC_ami,Number=A,Type=Integer,Description="Alternate allele count for samples in the Amish genetic ancestry group">
+##INFO=<ID=AF_ami,Number=A,Type=Float,Description="Alternate allele frequency in samples in the Amish genetic ancestry group">
+##INFO=<ID=AN_ami,Number=1,Type=Integer,Description="Total number of alleles in samples in the Amish genetic ancestry group">
+##INFO=<ID=nhomalt_ami,Number=A,Type=Integer,Description="Count of homozygous individuals in samples in the Amish genetic ancestry group">
+##INFO=<ID=AC_amr_XX,Number=A,Type=Integer,Description="Alternate allele count for XX samples in the Admixed American genetic ancestry group">
+##INFO=<ID=AF_amr_XX,Number=A,Type=Float,Description="Alternate allele frequency in XX samples in the Admixed American genetic ancestry group">
+##INFO=<ID=AN_amr_XX,Number=1,Type=Integer,Description="Total number of alleles in XX samples in the Admixed American genetic ancestry group">
+##INFO=<ID=nhomalt_amr_XX,Number=A,Type=Integer,Description="Count of homozygous individuals in XX samples in the Admixed American genetic ancestry group">
+##INFO=<ID=AC_amr_XY,Number=A,Type=Integer,Description="Alternate allele count for XY samples in the Admixed American genetic ancestry group">
+##INFO=<ID=AF_amr_XY,Number=A,Type=Float,Description="Alternate allele frequency in XY samples in the Admixed American genetic ancestry group">
+##INFO=<ID=AN_amr_XY,Number=1,Type=Integer,Description="Total number of alleles in XY samples in the Admixed American genetic ancestry group">
+##INFO=<ID=nhomalt_amr_XY,Number=A,Type=Integer,Description="Count of homozygous individuals in XY samples in the Admixed American genetic ancestry group">
+##INFO=<ID=AC_amr,Number=A,Type=Integer,Description="Alternate allele count for samples in the Admixed American genetic ancestry group">
+##INFO=<ID=AF_amr,Number=A,Type=Float,Description="Alternate allele frequency in samples in the Admixed American genetic ancestry group">
+##INFO=<ID=AN_amr,Number=1,Type=Integer,Description="Total number of alleles in samples in the Admixed American genetic ancestry group">
+##INFO=<ID=nhomalt_amr,Number=A,Type=Integer,Description="Count of homozygous individuals in samples in the Admixed American genetic ancestry group">
+##INFO=<ID=AC_asj_XX,Number=A,Type=Integer,Description="Alternate allele count for XX samples in the Ashkenazi Jewish genetic ancestry group">
+##INFO=<ID=AF_asj_XX,Number=A,Type=Float,Description="Alternate allele frequency in XX samples in the Ashkenazi Jewish genetic ancestry group">
+##INFO=<ID=AN_asj_XX,Number=1,Type=Integer,Description="Total number of alleles in XX samples in the Ashkenazi Jewish genetic ancestry group">
+##INFO=<ID=nhomalt_asj_XX,Number=A,Type=Integer,Description="Count of homozygous individuals in XX samples in the Ashkenazi Jewish genetic ancestry group">
+##INFO=<ID=AC_asj_XY,Number=A,Type=Integer,Description="Alternate allele count for XY samples in the Ashkenazi Jewish genetic ancestry group">
+##INFO=<ID=AF_asj_XY,Number=A,Type=Float,Description="Alternate allele frequency in XY samples in the Ashkenazi Jewish genetic ancestry group">
+##INFO=<ID=AN_asj_XY,Number=1,Type=Integer,Description="Total number of alleles in XY samples in the Ashkenazi Jewish genetic ancestry group">
+##INFO=<ID=nhomalt_asj_XY,Number=A,Type=Integer,Description="Count of homozygous individuals in XY samples in the Ashkenazi Jewish genetic ancestry group">
+##INFO=<ID=AC_asj,Number=A,Type=Integer,Description="Alternate allele count for samples in the Ashkenazi Jewish genetic ancestry group">
+##INFO=<ID=AF_asj,Number=A,Type=Float,Description="Alternate allele frequency in samples in the Ashkenazi Jewish genetic ancestry group">
+##INFO=<ID=AN_asj,Number=1,Type=Integer,Description="Total number of alleles in samples in the Ashkenazi Jewish genetic ancestry group">
+##INFO=<ID=nhomalt_asj,Number=A,Type=Integer,Description="Count of homozygous individuals in samples in the Ashkenazi Jewish genetic ancestry group">
+##INFO=<ID=AC_eas_XX,Number=A,Type=Integer,Description="Alternate allele count for XX samples in the East Asian genetic ancestry group">
+##INFO=<ID=AF_eas_XX,Number=A,Type=Float,Description="Alternate allele frequency in XX samples in the East Asian genetic ancestry group">
+##INFO=<ID=AN_eas_XX,Number=1,Type=Integer,Description="Total number of alleles in XX samples in the East Asian genetic ancestry group">
+##INFO=<ID=nhomalt_eas_XX,Number=A,Type=Integer,Description="Count of homozygous individuals in XX samples in the East Asian genetic ancestry group">
+##INFO=<ID=AC_eas_XY,Number=A,Type=Integer,Description="Alternate allele count for XY samples in the East Asian genetic ancestry group">
+##INFO=<ID=AF_eas_XY,Number=A,Type=Float,Description="Alternate allele frequency in XY samples in the East Asian genetic ancestry group">
+##INFO=<ID=AN_eas_XY,Number=1,Type=Integer,Description="Total number of alleles in XY samples in the East Asian genetic ancestry group">
+##INFO=<ID=nhomalt_eas_XY,Number=A,Type=Integer,Description="Count of homozygous individuals in XY samples in the East Asian genetic ancestry group">
+##INFO=<ID=AC_eas,Number=A,Type=Integer,Description="Alternate allele count for samples in the East Asian genetic ancestry group">
+##INFO=<ID=AF_eas,Number=A,Type=Float,Description="Alternate allele frequency in samples in the East Asian genetic ancestry group">
+##INFO=<ID=AN_eas,Number=1,Type=Integer,Description="Total number of alleles in samples in the East Asian genetic ancestry group">
+##INFO=<ID=nhomalt_eas,Number=A,Type=Integer,Description="Count of homozygous individuals in samples in the East Asian genetic ancestry group">
+##INFO=<ID=AC_fin_XX,Number=A,Type=Integer,Description="Alternate allele count for XX samples in the Finnish genetic ancestry group">
+##INFO=<ID=AF_fin_XX,Number=A,Type=Float,Description="Alternate allele frequency in XX samples in the Finnish genetic ancestry group">
+##INFO=<ID=AN_fin_XX,Number=1,Type=Integer,Description="Total number of alleles in XX samples in the Finnish genetic ancestry group">
+##INFO=<ID=nhomalt_fin_XX,Number=A,Type=Integer,Description="Count of homozygous individuals in XX samples in the Finnish genetic ancestry group">
+##INFO=<ID=AC_fin_XY,Number=A,Type=Integer,Description="Alternate allele count for XY samples in the Finnish genetic ancestry group">
+##INFO=<ID=AF_fin_XY,Number=A,Type=Float,Description="Alternate allele frequency in XY samples in the Finnish genetic ancestry group">
+##INFO=<ID=AN_fin_XY,Number=1,Type=Integer,Description="Total number of alleles in XY samples in the Finnish genetic ancestry group">
+##INFO=<ID=nhomalt_fin_XY,Number=A,Type=Integer,Description="Count of homozygous individuals in XY samples in the Finnish genetic ancestry group">
+##INFO=<ID=AC_fin,Number=A,Type=Integer,Description="Alternate allele count for samples in the Finnish genetic ancestry group">
+##INFO=<ID=AF_fin,Number=A,Type=Float,Description="Alternate allele frequency in samples in the Finnish genetic ancestry group">
+##INFO=<ID=AN_fin,Number=1,Type=Integer,Description="Total number of alleles in samples in the Finnish genetic ancestry group">
+##INFO=<ID=nhomalt_fin,Number=A,Type=Integer,Description="Count of homozygous individuals in samples in the Finnish genetic ancestry group">
+##INFO=<ID=AC_mid_XX,Number=A,Type=Integer,Description="Alternate allele count for XX samples in the Middle Eastern genetic ancestry group">
+##INFO=<ID=AF_mid_XX,Number=A,Type=Float,Description="Alternate allele frequency in XX samples in the Middle Eastern genetic ancestry group">
+##INFO=<ID=AN_mid_XX,Number=1,Type=Integer,Description="Total number of alleles in XX samples in the Middle Eastern genetic ancestry group">
+##INFO=<ID=nhomalt_mid_XX,Number=A,Type=Integer,Description="Count of homozygous individuals in XX samples in the Middle Eastern genetic ancestry group">
+##INFO=<ID=AC_mid_XY,Number=A,Type=Integer,Description="Alternate allele count for XY samples in the Middle Eastern genetic ancestry group">
+##INFO=<ID=AF_mid_XY,Number=A,Type=Float,Description="Alternate allele frequency in XY samples in the Middle Eastern genetic ancestry group">
+##INFO=<ID=AN_mid_XY,Number=1,Type=Integer,Description="Total number of alleles in XY samples in the Middle Eastern genetic ancestry group">
+##INFO=<ID=nhomalt_mid_XY,Number=A,Type=Integer,Description="Count of homozygous individuals in XY samples in the Middle Eastern genetic ancestry group">
+##INFO=<ID=AC_mid,Number=A,Type=Integer,Description="Alternate allele count for samples in the Middle Eastern genetic ancestry group">
+##INFO=<ID=AF_mid,Number=A,Type=Float,Description="Alternate allele frequency in samples in the Middle Eastern genetic ancestry group">
+##INFO=<ID=AN_mid,Number=1,Type=Integer,Description="Total number of alleles in samples in the Middle Eastern genetic ancestry group">
+##INFO=<ID=nhomalt_mid,Number=A,Type=Integer,Description="Count of homozygous individuals in samples in the Middle Eastern genetic ancestry group">
+##INFO=<ID=AC_nfe_XX,Number=A,Type=Integer,Description="Alternate allele count for XX samples in the Non-Finnish European genetic ancestry group">
+##INFO=<ID=AF_nfe_XX,Number=A,Type=Float,Description="Alternate allele frequency in XX samples in the Non-Finnish European genetic ancestry group">
+##INFO=<ID=AN_nfe_XX,Number=1,Type=Integer,Description="Total number of alleles in XX samples in the Non-Finnish European genetic ancestry group">
+##INFO=<ID=nhomalt_nfe_XX,Number=A,Type=Integer,Description="Count of homozygous individuals in XX samples in the Non-Finnish European genetic ancestry group">
+##INFO=<ID=AC_nfe_XY,Number=A,Type=Integer,Description="Alternate allele count for XY samples in the Non-Finnish European genetic ancestry group">
+##INFO=<ID=AF_nfe_XY,Number=A,Type=Float,Description="Alternate allele frequency in XY samples in the Non-Finnish European genetic ancestry group">
+##INFO=<ID=AN_nfe_XY,Number=1,Type=Integer,Description="Total number of alleles in XY samples in the Non-Finnish European genetic ancestry group">
+##INFO=<ID=nhomalt_nfe_XY,Number=A,Type=Integer,Description="Count of homozygous individuals in XY samples in the Non-Finnish European genetic ancestry group">
+##INFO=<ID=AC_nfe,Number=A,Type=Integer,Description="Alternate allele count for samples in the Non-Finnish European genetic ancestry group">
+##INFO=<ID=AF_nfe,Number=A,Type=Float,Description="Alternate allele frequency in samples in the Non-Finnish European genetic ancestry group">
+##INFO=<ID=AN_nfe,Number=1,Type=Integer,Description="Total number of alleles in samples in the Non-Finnish European genetic ancestry group">
+##INFO=<ID=nhomalt_nfe,Number=A,Type=Integer,Description="Count of homozygous individuals in samples in the Non-Finnish European genetic ancestry group">
+##INFO=<ID=AC_raw,Number=A,Type=Integer,Description="Alternate allele count for samples, before removing low-confidence genotypes">
+##INFO=<ID=AF_raw,Number=A,Type=Float,Description="Alternate allele frequency in samples, before removing low-confidence genotypes">
+##INFO=<ID=AN_raw,Number=1,Type=Integer,Description="Total number of alleles in samples, before removing low-confidence genotypes">
+##INFO=<ID=nhomalt_raw,Number=A,Type=Integer,Description="Count of homozygous individuals in samples, before removing low-confidence genotypes">
+##INFO=<ID=AC_remaining_XX,Number=A,Type=Integer,Description="Alternate allele count for XX samples in the Remaining individuals genetic ancestry group">
+##INFO=<ID=AF_remaining_XX,Number=A,Type=Float,Description="Alternate allele frequency in XX samples in the Remaining individuals genetic ancestry group">
+##INFO=<ID=AN_remaining_XX,Number=1,Type=Integer,Description="Total number of alleles in XX samples in the Remaining individuals genetic ancestry group">
+##INFO=<ID=nhomalt_remaining_XX,Number=A,Type=Integer,Description="Count of homozygous individuals in XX samples in the Remaining individuals genetic ancestry group">
+##INFO=<ID=AC_remaining_XY,Number=A,Type=Integer,Description="Alternate allele count for XY samples in the Remaining individuals genetic ancestry group">
+##INFO=<ID=AF_remaining_XY,Number=A,Type=Float,Description="Alternate allele frequency in XY samples in the Remaining individuals genetic ancestry group">
+##INFO=<ID=AN_remaining_XY,Number=1,Type=Integer,Description="Total number of alleles in XY samples in the Remaining individuals genetic ancestry group">
+##INFO=<ID=nhomalt_remaining_XY,Number=A,Type=Integer,Description="Count of homozygous individuals in XY samples in the Remaining individuals genetic ancestry group">
+##INFO=<ID=AC_remaining,Number=A,Type=Integer,Description="Alternate allele count for samples in the Remaining individuals genetic ancestry group">
+##INFO=<ID=AF_remaining,Number=A,Type=Float,Description="Alternate allele frequency in samples in the Remaining individuals genetic ancestry group">
+##INFO=<ID=AN_remaining,Number=1,Type=Integer,Description="Total number of alleles in samples in the Remaining individuals genetic ancestry group">
+##INFO=<ID=nhomalt_remaining,Number=A,Type=Integer,Description="Count of homozygous individuals in samples in the Remaining individuals genetic ancestry group">
+##INFO=<ID=AC_sas_XX,Number=A,Type=Integer,Description="Alternate allele count for XX samples in the South Asian genetic ancestry group">
+##INFO=<ID=AF_sas_XX,Number=A,Type=Float,Description="Alternate allele frequency in XX samples in the South Asian genetic ancestry group">
+##INFO=<ID=AN_sas_XX,Number=1,Type=Integer,Description="Total number of alleles in XX samples in the South Asian genetic ancestry group">
+##INFO=<ID=nhomalt_sas_XX,Number=A,Type=Integer,Description="Count of homozygous individuals in XX samples in the South Asian genetic ancestry group">
+##INFO=<ID=AC_sas_XY,Number=A,Type=Integer,Description="Alternate allele count for XY samples in the South Asian genetic ancestry group">
+##INFO=<ID=AF_sas_XY,Number=A,Type=Float,Description="Alternate allele frequency in XY samples in the South Asian genetic ancestry group">
+##INFO=<ID=AN_sas_XY,Number=1,Type=Integer,Description="Total number of alleles in XY samples in the South Asian genetic ancestry group">
+##INFO=<ID=nhomalt_sas_XY,Number=A,Type=Integer,Description="Count of homozygous individuals in XY samples in the South Asian genetic ancestry group">
+##INFO=<ID=AC_sas,Number=A,Type=Integer,Description="Alternate allele count for samples in the South Asian genetic ancestry group">
+##INFO=<ID=AF_sas,Number=A,Type=Float,Description="Alternate allele frequency in samples in the South Asian genetic ancestry group">
+##INFO=<ID=AN_sas,Number=1,Type=Integer,Description="Total number of alleles in samples in the South Asian genetic ancestry group">
+##INFO=<ID=nhomalt_sas,Number=A,Type=Integer,Description="Count of homozygous individuals in samples in the South Asian genetic ancestry group">
+##INFO=<ID=AC_grpmax,Number=A,Type=Integer,Description="Allele count in the genetic ancestry group with the maximum allele frequency">
+##INFO=<ID=AF_grpmax,Number=A,Type=Float,Description="Maximum allele frequency across genetic ancestry groups">
+##INFO=<ID=AN_grpmax,Number=A,Type=Integer,Description="Total number of alleles in the genetic ancestry group with the maximum allele frequency">
+##INFO=<ID=nhomalt_grpmax,Number=A,Type=Integer,Description="Count of homozygous individuals in the genetic ancestry group with the maximum allele frequency">
+##INFO=<ID=faf95_XX,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 95% CI) for XX samples in non-PAR regions of sex chromosomes only">
+##INFO=<ID=faf95_XY,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 95% CI) for XY samples in non-PAR regions of sex chromosomes only">
+##INFO=<ID=faf95,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 95% CI)">
+##INFO=<ID=faf95_afr_XX,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 95% CI) for XX samples in the African/African-American genetic ancestry group in non-PAR regions of sex chromosomes only">
+##INFO=<ID=faf95_afr_XY,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 95% CI) for XY samples in the African/African-American genetic ancestry group in non-PAR regions of sex chromosomes only">
+##INFO=<ID=faf95_afr,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 95% CI) for samples in the African/African-American genetic ancestry group">
+##INFO=<ID=faf95_amr_XX,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 95% CI) for XX samples in the Admixed American genetic ancestry group in non-PAR regions of sex chromosomes only">
+##INFO=<ID=faf95_amr_XY,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 95% CI) for XY samples in the Admixed American genetic ancestry group in non-PAR regions of sex chromosomes only">
+##INFO=<ID=faf95_amr,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 95% CI) for samples in the Admixed American genetic ancestry group">
+##INFO=<ID=faf95_eas_XX,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 95% CI) for XX samples in the East Asian genetic ancestry group in non-PAR regions of sex chromosomes only">
+##INFO=<ID=faf95_eas_XY,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 95% CI) for XY samples in the East Asian genetic ancestry group in non-PAR regions of sex chromosomes only">
+##INFO=<ID=faf95_eas,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 95% CI) for samples in the East Asian genetic ancestry group">
+##INFO=<ID=faf95_nfe_XX,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 95% CI) for XX samples in the Non-Finnish European genetic ancestry group in non-PAR regions of sex chromosomes only">
+##INFO=<ID=faf95_nfe_XY,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 95% CI) for XY samples in the Non-Finnish European genetic ancestry group in non-PAR regions of sex chromosomes only">
+##INFO=<ID=faf95_nfe,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 95% CI) for samples in the Non-Finnish European genetic ancestry group">
+##INFO=<ID=faf95_sas_XX,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 95% CI) for XX samples in the South Asian genetic ancestry group in non-PAR regions of sex chromosomes only">
+##INFO=<ID=faf95_sas_XY,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 95% CI) for XY samples in the South Asian genetic ancestry group in non-PAR regions of sex chromosomes only">
+##INFO=<ID=faf95_sas,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 95% CI) for samples in the South Asian genetic ancestry group">
+##INFO=<ID=faf99_XX,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 99% CI) for XX samples in non-PAR regions of sex chromosomes only">
+##INFO=<ID=faf99_XY,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 99% CI) for XY samples in non-PAR regions of sex chromosomes only">
+##INFO=<ID=faf99,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 99% CI)">
+##INFO=<ID=faf99_afr_XX,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 99% CI) for XX samples in the African/African-American genetic ancestry group in non-PAR regions of sex chromosomes only">
+##INFO=<ID=faf99_afr_XY,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 99% CI) for XY samples in the African/African-American genetic ancestry group in non-PAR regions of sex chromosomes only">
+##INFO=<ID=faf99_afr,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 99% CI) for samples in the African/African-American genetic ancestry group">
+##INFO=<ID=faf99_amr_XX,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 99% CI) for XX samples in the Admixed American genetic ancestry group in non-PAR regions of sex chromosomes only">
+##INFO=<ID=faf99_amr_XY,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 99% CI) for XY samples in the Admixed American genetic ancestry group in non-PAR regions of sex chromosomes only">
+##INFO=<ID=faf99_amr,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 99% CI) for samples in the Admixed American genetic ancestry group">
+##INFO=<ID=faf99_eas_XX,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 99% CI) for XX samples in the East Asian genetic ancestry group in non-PAR regions of sex chromosomes only">
+##INFO=<ID=faf99_eas_XY,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 99% CI) for XY samples in the East Asian genetic ancestry group in non-PAR regions of sex chromosomes only">
+##INFO=<ID=faf99_eas,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 99% CI) for samples in the East Asian genetic ancestry group">
+##INFO=<ID=faf99_nfe_XX,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 99% CI) for XX samples in the Non-Finnish European genetic ancestry group in non-PAR regions of sex chromosomes only">
+##INFO=<ID=faf99_nfe_XY,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 99% CI) for XY samples in the Non-Finnish European genetic ancestry group in non-PAR regions of sex chromosomes only">
+##INFO=<ID=faf99_nfe,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 99% CI) for samples in the Non-Finnish European genetic ancestry group">
+##INFO=<ID=faf99_sas_XX,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 99% CI) for XX samples in the South Asian genetic ancestry group in non-PAR regions of sex chromosomes only">
+##INFO=<ID=faf99_sas_XY,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 99% CI) for XY samples in the South Asian genetic ancestry group in non-PAR regions of sex chromosomes only">
+##INFO=<ID=faf99_sas,Number=A,Type=Float,Description="Filtering allele frequency (using Poisson 99% CI) for samples in the South Asian genetic ancestry group">
+##INFO=<ID=fafmax_faf99_max,Number=A,Type=Float,Description="Maximum filtering allele frequency (using Poisson 99% CI) across genetic ancestry groups">
+##INFO=<ID=fafmax_faf99_max_gen_anc,Number=A,Type=String,Description="Genetic ancestry group with maximum filtering allele frequency (using Poisson 99% CI)">
+##INFO=<ID=age_hist_het_bin_freq,Number=A,Type=String,Description="Histogram of ages of heterozygous individuals; bin edges are: 30.0|35.0|40.0|45.0|50.0|55.0|60.0|65.0|70.0|75.0|80.0; total number of individuals of any genotype bin: 1332|1401|1642|2949|4283|3601|3282|2909|1955|1202">
+##INFO=<ID=age_hist_het_n_smaller,Number=A,Type=Integer,Description="Count of age values falling below lowest histogram bin edge for heterozygous individuals">
+##INFO=<ID=age_hist_het_n_larger,Number=A,Type=Integer,Description="Count of age values falling above highest histogram bin edge for heterozygous individuals">
+##INFO=<ID=age_hist_hom_bin_freq,Number=A,Type=String,Description="Histogram of ages of homozygous alternate individuals; bin edges are: 30.0|35.0|40.0|45.0|50.0|55.0|60.0|65.0|70.0|75.0|80.0; total number of individuals of any genotype bin: 1332|1401|1642|2949|4283|3601|3282|2909|1955|1202">
+##INFO=<ID=age_hist_hom_n_smaller,Number=A,Type=Integer,Description="Count of age values falling below lowest histogram bin edge for homozygous alternate individuals">
+##INFO=<ID=age_hist_hom_n_larger,Number=A,Type=Integer,Description="Count of age values falling above highest histogram bin edge for homozygous alternate individuals">
+##INFO=<ID=FS,Number=1,Type=Float,Description="Phred-scaled p-value of Fisher's exact test for strand bias">
+##INFO=<ID=MQ,Number=1,Type=Float,Description="Root mean square of the mapping quality of reads across all samples">
+##INFO=<ID=MQRankSum,Number=1,Type=Float,Description="Z-score from Wilcoxon rank sum test of alternate vs. reference read mapping qualities">
+##INFO=<ID=QUALapprox,Number=1,Type=Integer,Description="Sum of PL[0] values; used to approximate the QUAL score">
+##INFO=<ID=QD,Number=1,Type=Float,Description="Variant call confidence normalized by depth of sample reads supporting a variant">
+##INFO=<ID=ReadPosRankSum,Number=1,Type=Float,Description="Z-score from Wilcoxon rank sum test of alternate vs. reference read position bias">
+##INFO=<ID=SOR,Number=1,Type=Float,Description="Strand bias estimated by the symmetric odds ratio test">
+##INFO=<ID=VarDP,Number=1,Type=Integer,Description="Depth over variant genotypes (does not include depth of reference samples)">
+##INFO=<ID=monoallelic,Number=0,Type=Flag,Description="All samples are homozygous alternate for the variant">
+##INFO=<ID=only_het,Number=0,Type=Flag,Description="All samples are heterozygous for the variant">
+##INFO=<ID=transmitted_singleton,Number=0,Type=Flag,Description="Variant was a callset-wide doubleton that was transmitted within a family from a parent to a child (i.e., a singleton amongst unrelated samples in cohort)">
+##INFO=<ID=AS_FS,Number=A,Type=Float,Description="Allele-specific phred-scaled p-value of Fisher's exact test for strand bias">
+##INFO=<ID=AS_MQ,Number=A,Type=Float,Description="Allele-specific root mean square of the mapping quality of reads across all samples">
+##INFO=<ID=AS_MQRankSum,Number=A,Type=Float,Description="Allele-specific z-score from Wilcoxon rank sum test of alternate vs. reference read mapping qualities">
+##INFO=<ID=AS_pab_max,Number=A,Type=Float,Description="Maximum p-value over callset for binomial test of observed allele balance for a heterozygous genotype, given expectation of 0.5">
+##INFO=<ID=AS_QUALapprox,Number=A,Type=Integer,Description="Allele-specific sum of PL[0] values; used to approximate the QUAL score">
+##INFO=<ID=AS_QD,Number=A,Type=Float,Description="Allele-specific variant call confidence normalized by depth of sample reads supporting a variant">
+##INFO=<ID=AS_ReadPosRankSum,Number=A,Type=Float,Description="Allele-specific z-score from Wilcoxon rank sum test of alternate vs. reference read position bias">
+##INFO=<ID=AS_SB_TABLE,Number=.,Type=String,Description="Allele-specific forward/reverse read counts for strand bias tests">
+##INFO=<ID=AS_SOR,Number=A,Type=Float,Description="Allele-specific strand bias estimated by the symmetric odds ratio test">
+##INFO=<ID=AS_VarDP,Number=A,Type=Integer,Description="Allele-specific depth over variant genotypes (does not include depth of reference samples)">
+##INFO=<ID=inbreeding_coeff,Number=A,Type=Float,Description="Inbreeding coefficient, the excess heterozygosity at a variant site, computed as 1 - (the number of heterozygous genotypes)/(the number of heterozygous genotypes expected under Hardy-Weinberg equilibrium)">
+##INFO=<ID=AS_culprit,Number=A,Type=String,Description="Allele-specific worst-performing annotation in the VQSR Gaussian mixture model">
+##INFO=<ID=AS_VQSLOD,Number=A,Type=Float,Description="Allele-specific log-odds ratio of being a true variant versus being a false positive under the trained VQSR Gaussian mixture model">
+##INFO=<ID=negative_train_site,Number=0,Type=Flag,Description="Variant was used to build the negative training set of low-quality variants for VQSR">
+##INFO=<ID=positive_train_site,Number=0,Type=Flag,Description="Variant was used to build the positive training set of high-quality variants for VQSR">
+##INFO=<ID=allele_type,Number=1,Type=String,Description="Allele type (snv, insertion, deletion, or mixed)">
+##INFO=<ID=n_alt_alleles,Number=1,Type=Integer,Description="Total number of alternate alleles observed at variant locus">
+##INFO=<ID=variant_type,Number=1,Type=String,Description="Variant type (snv, indel, multi-snv, multi-indel, or mixed)">
+##INFO=<ID=was_mixed,Number=0,Type=Flag,Description="Variant type was mixed">
+##INFO=<ID=lcr,Number=0,Type=Flag,Description="Variant falls within a low complexity region">
+##INFO=<ID=non_par,Number=0,Type=Flag,Description="Variant (on sex chromosome) falls outside a pseudoautosomal region">
+##INFO=<ID=segdup,Number=0,Type=Flag,Description="Variant falls within a segmental duplication region">
+##INFO=<ID=gq_hist_alt_bin_freq,Number=A,Type=String,Description="Histogram for GQ in heterozygous individuals calculated on high quality genotypes; bin edges are: 0|5|10|15|20|25|30|35|40|45|50|55|60|65|70|75|80|85|90|95|100">
+##INFO=<ID=gq_hist_all_bin_freq,Number=A,Type=String,Description="Histogram for GQ calculated on high quality genotypes; bin edges are: 0|5|10|15|20|25|30|35|40|45|50|55|60|65|70|75|80|85|90|95|100">
+##INFO=<ID=dp_hist_alt_bin_freq,Number=A,Type=String,Description="Histogram for DP in heterozygous individuals calculated on high quality genotypes; bin edges are: 0|5|10|15|20|25|30|35|40|45|50|55|60|65|70|75|80|85|90|95|100">
+##INFO=<ID=dp_hist_alt_n_larger,Number=A,Type=Integer,Description="Count of DP values falling above highest histogram bin edge DP in heterozygous individuals calculated on high quality genotypes">
+##INFO=<ID=dp_hist_all_bin_freq,Number=A,Type=String,Description="Histogram for DP calculated on high quality genotypes; bin edges are: 0|5|10|15|20|25|30|35|40|45|50|55|60|65|70|75|80|85|90|95|100">
+##INFO=<ID=dp_hist_all_n_larger,Number=A,Type=Integer,Description="Count of DP values falling above highest histogram bin edge DP calculated on high quality genotypes">
+##INFO=<ID=ab_hist_alt_bin_freq,Number=A,Type=String,Description="Histogram for AB in heterozygous individuals calculated on high quality genotypes; bin edges are: 0.00|0.05|0.10|0.15|0.20|0.25|0.30|0.35|0.40|0.45|0.50|0.55|0.60|0.65|0.70|0.75|0.80|0.85|0.90|0.95|1.00">
+##INFO=<ID=cadd_raw_score,Number=1,Type=Float,Description="Raw CADD scores are interpretable as the extent to which the annotation profile for a given variant suggests that the variant is likely to be 'observed' (negative values) vs 'simulated' (positive values). Larger values are more deleterious.">
+##INFO=<ID=cadd_phred,Number=1,Type=Float,Description="Cadd Phred-like scores ('scaled C-scores') ranging from 1 to 99, based on the rank of each variant relative to all possible 8.6 billion substitutions in the human reference genome. Larger values are more deleterious.">
+##INFO=<ID=revel_max,Number=1,Type=Float,Description="The maximum REVEL score at a site's MANE Select or canonical transcript. It's an ensemble score for predicting the pathogenicity of missense variants (based on 13 other variant predictors). Scores ranges from 0 to 1. Variants with higher scores are predicted to be more likely to be deleterious.">
+##INFO=<ID=spliceai_ds_max,Number=1,Type=Float,Description="Illumina's SpliceAI max delta score; interpreted as the probability of the variant being splice-altering.">
+##INFO=<ID=pangolin_largest_ds,Number=1,Type=Float,Description="Pangolin's largest delta score across 2 splicing consequences, which reflects the probability of the variant being splice-altering">
+##INFO=<ID=phylop,Number=1,Type=Float,Description="Base-wise conservation score across the 241 placental mammals in the Zoonomia project. Score ranges from -20 to 9.28, and reflects acceleration (faster evolution than expected under neutral drift, assigned negative scores) as well as conservation (slower than expected evolution, assigned positive scores).">
+##INFO=<ID=sift_max,Number=1,Type=Float,Description="Score reflecting the scaled probability of the amino acid substitution being tolerated, ranging from 0 to 1. Scores below 0.05 are predicted to impact protein function. We prioritize max scores for MANE Select transcripts where possible and otherwise report a score for the canonical transcript.">
+##INFO=<ID=polyphen_max,Number=1,Type=Float,Description="Score that predicts the possible impact of an amino acid substitution on the structure and function of a human protein, ranging from 0.0 (tolerated) to 1.0 (deleterious).  We prioritize max scores for MANE Select transcripts where possible and otherwise report a score for the canonical transcript.">
+##INFO=<ID=VRS_Allele_IDs,Number=R,Type=String,Description="The computed identifiers for the GA4GH VRS Alleles corresponding to the values in the REF and ALT fields">
+##INFO=<ID=VRS_Starts,Number=R,Type=Integer,Description="Interresidue coordinates used as the location starts for the GA4GH VRS Alleles corresponding to the values in the REF and ALT fields">
+##INFO=<ID=VRS_Ends,Number=R,Type=Integer,Description="Interresidue coordinates used as the location ends for the GA4GH VRS Alleles corresponding to the values in the REF and ALT fields">
+##INFO=<ID=VRS_States,Number=.,Type=String,Description="The literal sequence states used for the GA4GH VRS Alleles corresponding to the values in the REF and ALT fields">
+##INFO=<ID=vep,Number=.,Type=String,Description="Consequence annotations from Ensembl VEP. Format: Allele|Consequence|IMPACT|SYMBOL|Gene|Feature_type|Feature|BIOTYPE|EXON|INTRON|HGVSc|HGVSp|cDNA_position|CDS_position|Protein_position|Amino_acids|Codons|ALLELE_NUM|DISTANCE|STRAND|FLAGS|VARIANT_CLASS|SYMBOL_SOURCE|HGNC_ID|CANONICAL|MANE_SELECT|MANE_PLUS_CLINICAL|TSL|APPRIS|CCDS|ENSP|UNIPROT_ISOFORM|SOURCE|DOMAINS|miRNA|HGVS_OFFSET|PUBMED|MOTIF_NAME|MOTIF_POS|HIGH_INF_POS|MOTIF_SCORE_CHANGE|TRANSCRIPTION_FACTORS|LoF|LoF_filter|LoF_flags|LoF_info">
+##age_distribution=bin_edges=[30.0, 35.0, 40.0, 45.0, 50.0, 55.0, 60.0, 65.0, 70.0, 75.0, 80.0], bin_freq=[1332, 1401, 1642, 2949, 4283, 3601, 3282, 2909, 1955, 1202], n_smaller=3760, n_larger=438
+##cadd_version=v1.6
+##dbsnp_version=b156
+##gencode_version=Release 39
+##mane_select_version=v0.95
+##pangolin_version=v1.3.12,v1.4.4
+##phylop_version=v2
+##polyphen_version=2.2.2
+##revel_version=v1.3
+##seqrepo_version=2018-11-26
+##sift_version=5.2.2
+##spliceai_version=v1.3
+##vep_version=v105
+##vrs_schema_version=1.3.0
+##vrs_python_version=0.8.4
+##contig=<ID=chr1,length=248956422,assembly=gnomAD_GRCh38>
+##contig=<ID=chr2,length=242193529,assembly=gnomAD_GRCh38>
+##contig=<ID=chr3,length=198295559,assembly=gnomAD_GRCh38>
+##contig=<ID=chr4,length=190214555,assembly=gnomAD_GRCh38>
+##contig=<ID=chr5,length=181538259,assembly=gnomAD_GRCh38>
+##contig=<ID=chr6,length=170805979,assembly=gnomAD_GRCh38>
+##contig=<ID=chr7,length=159345973,assembly=gnomAD_GRCh38>
+##contig=<ID=chr8,length=145138636,assembly=gnomAD_GRCh38>
+##contig=<ID=chr9,length=138394717,assembly=gnomAD_GRCh38>
+##contig=<ID=chr10,length=133797422,assembly=gnomAD_GRCh38>
+##contig=<ID=chr11,length=135086622,assembly=gnomAD_GRCh38>
+##contig=<ID=chr12,length=133275309,assembly=gnomAD_GRCh38>
+##contig=<ID=chr13,length=114364328,assembly=gnomAD_GRCh38>
+##contig=<ID=chr14,length=107043718,assembly=gnomAD_GRCh38>
+##contig=<ID=chr15,length=101991189,assembly=gnomAD_GRCh38>
+##contig=<ID=chr16,length=90338345,assembly=gnomAD_GRCh38>
+##contig=<ID=chr17,length=83257441,assembly=gnomAD_GRCh38>
+##contig=<ID=chr18,length=80373285,assembly=gnomAD_GRCh38>
+##contig=<ID=chr19,length=58617616,assembly=gnomAD_GRCh38>
+##contig=<ID=chr20,length=64444167,assembly=gnomAD_GRCh38>
+##contig=<ID=chr21,length=46709983,assembly=gnomAD_GRCh38>
+##contig=<ID=chr22,length=50818468,assembly=gnomAD_GRCh38>
+##contig=<ID=chrX,length=156040895,assembly=gnomAD_GRCh38>
+##contig=<ID=chrY,length=57227415,assembly=gnomAD_GRCh38>
+#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO
+chr21	5029882	.	CAA	C	.	AC0	AC=0;AN=0;AC_XX=0;AN_XX=0;nhomalt_XX=0;AC_XY=0;AN_XY=0;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AN_afr_XX=0;nhomalt_afr_XX=0;AC_afr_XY=0;AN_afr_XY=0;nhomalt_afr_XY=0;AC_afr=0;AN_afr=0;nhomalt_afr=0;AC_ami_XX=0;AN_ami_XX=0;nhomalt_ami_XX=0;AC_ami_XY=0;AN_ami_XY=0;nhomalt_ami_XY=0;AC_ami=0;AN_ami=0;nhomalt_ami=0;AC_amr_XX=0;AN_amr_XX=0;nhomalt_amr_XX=0;AC_amr_XY=0;AN_amr_XY=0;nhomalt_amr_XY=0;AC_amr=0;AN_amr=0;nhomalt_amr=0;AC_asj_XX=0;AN_asj_XX=0;nhomalt_asj_XX=0;AC_asj_XY=0;AN_asj_XY=0;nhomalt_asj_XY=0;AC_asj=0;AN_asj=0;nhomalt_asj=0;AC_eas_XX=0;AN_eas_XX=0;nhomalt_eas_XX=0;AC_eas_XY=0;AN_eas_XY=0;nhomalt_eas_XY=0;AC_eas=0;AN_eas=0;nhomalt_eas=0;AC_fin_XX=0;AN_fin_XX=0;nhomalt_fin_XX=0;AC_fin_XY=0;AN_fin_XY=0;nhomalt_fin_XY=0;AC_fin=0;AN_fin=0;nhomalt_fin=0;AC_mid_XX=0;AN_mid_XX=0;nhomalt_mid_XX=0;AC_mid_XY=0;AN_mid_XY=0;nhomalt_mid_XY=0;AC_mid=0;AN_mid=0;nhomalt_mid=0;AC_nfe_XX=0;AN_nfe_XX=0;nhomalt_nfe_XX=0;AC_nfe_XY=0;AN_nfe_XY=0;nhomalt_nfe_XY=0;AC_nfe=0;AN_nfe=0;nhomalt_nfe=0;AC_raw=2;AF_raw=0.00102249;AN_raw=1956;nhomalt_raw=1;AC_remaining_XX=0;AN_remaining_XX=0;nhomalt_remaining_XX=0;AC_remaining_XY=0;AN_remaining_XY=0;nhomalt_remaining_XY=0;AC_remaining=0;AN_remaining=0;nhomalt_remaining=0;AC_sas_XX=0;AN_sas_XX=0;nhomalt_sas_XX=0;AC_sas_XY=0;AN_sas_XY=0;nhomalt_sas_XY=0;AC_sas=0;AN_sas=0;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;MQ=27.0000;QUALapprox=90;QD=45.0000;SOR=2.30300;VarDP=2;AS_MQ=27.0000;AS_QUALapprox=90;AS_QD=45.0000;AS_SB_TABLE=0,0|2,0;AS_SOR=2.30259;AS_VarDP=2;inbreeding_coeff=1.00000;AS_culprit=AS_FS;AS_VQSLOD=5.39080;allele_type=del;n_alt_alleles=1;variant_type=indel;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0538560;cadd_phred=1.03400;phylop=-2.65900;VRS_Allele_IDs=ga4gh:VA.l0m9FDsyv26AHDoafHIMjXY_4QQils9x,ga4gh:VA.3cQ32hHhwf91-wQFZxqJHGgkW8hk9oVN;VRS_Starts=5029881,5029882;VRS_Ends=5029884,5029885;VRS_States=CAA,A;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.697+1659_697+1660del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.346+1659_346+1660del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.346+1659_346+1660del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*311+1659_*311+1660del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.697+1659_697+1660del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.697+1659_697+1660del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.697+1659_697+1660del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.697+1659_697+1660del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.697+1659_697+1660del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030082	.	G	A	.	AC0;AS_VQSR	AC=0;AN=2;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=2;nhomalt_XX=0;AC_XY=0;AN_XY=0;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AN_afr_XX=0;nhomalt_afr_XX=0;AC_afr_XY=0;AN_afr_XY=0;nhomalt_afr_XY=0;AC_afr=0;AN_afr=0;nhomalt_afr=0;AC_ami_XX=0;AN_ami_XX=0;nhomalt_ami_XX=0;AC_ami_XY=0;AN_ami_XY=0;nhomalt_ami_XY=0;AC_ami=0;AN_ami=0;nhomalt_ami=0;AC_amr_XX=0;AN_amr_XX=0;nhomalt_amr_XX=0;AC_amr_XY=0;AN_amr_XY=0;nhomalt_amr_XY=0;AC_amr=0;AN_amr=0;nhomalt_amr=0;AC_asj_XX=0;AN_asj_XX=0;nhomalt_asj_XX=0;AC_asj_XY=0;AN_asj_XY=0;nhomalt_asj_XY=0;AC_asj=0;AN_asj=0;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=2;nhomalt_eas_XX=0;AC_eas_XY=0;AN_eas_XY=0;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2;nhomalt_eas=0;AC_fin_XX=0;AN_fin_XX=0;nhomalt_fin_XX=0;AC_fin_XY=0;AN_fin_XY=0;nhomalt_fin_XY=0;AC_fin=0;AN_fin=0;nhomalt_fin=0;AC_mid_XX=0;AN_mid_XX=0;nhomalt_mid_XX=0;AC_mid_XY=0;AN_mid_XY=0;nhomalt_mid_XY=0;AC_mid=0;AN_mid=0;nhomalt_mid=0;AC_nfe_XX=0;AN_nfe_XX=0;nhomalt_nfe_XX=0;AC_nfe_XY=0;AN_nfe_XY=0;nhomalt_nfe_XY=0;AC_nfe=0;AN_nfe=0;nhomalt_nfe=0;AC_raw=4;AF_raw=0.000136305;AN_raw=29346;nhomalt_raw=2;AC_remaining_XX=0;AN_remaining_XX=0;nhomalt_remaining_XX=0;AC_remaining_XY=0;AN_remaining_XY=0;nhomalt_remaining_XY=0;AC_remaining=0;AN_remaining=0;nhomalt_remaining=0;AC_sas_XX=0;AN_sas_XX=0;nhomalt_sas_XX=0;AC_sas_XY=0;AN_sas_XY=0;nhomalt_sas_XY=0;AC_sas=0;AN_sas=0;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=30.6084;QUALapprox=261;QD=32.6250;SOR=4.40700;VarDP=8;AS_FS=.;AS_MQ=30.6084;AS_QUALapprox=261;AS_QD=32.6250;AS_SB_TABLE=0,0|8,0;AS_SOR=4.40672;AS_VarDP=8;inbreeding_coeff=1.00000;AS_culprit=AS_SOR;AS_VQSLOD=-15.2842;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.280444;cadd_phred=4.06100;phylop=0.548000;VRS_Allele_IDs=ga4gh:VA.9ENogSruYatevtFUuE3mJQEpNswN2RV5,ga4gh:VA.EJjRG7fXPmNk28uI-gRIb8kblxXt8XV7;VRS_Starts=5030081,5030081;VRS_Ends=5030082,5030082;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.697+1857G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.346+1857G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.346+1857G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*311+1857G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.697+1857G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.697+1857G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.697+1857G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.697+1857G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.697+1857G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030085	.	A	C	.	AC0;AS_VQSR	AC=0;AN=2;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=2;nhomalt_XX=0;AC_XY=0;AN_XY=0;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AN_afr_XX=0;nhomalt_afr_XX=0;AC_afr_XY=0;AN_afr_XY=0;nhomalt_afr_XY=0;AC_afr=0;AN_afr=0;nhomalt_afr=0;AC_ami_XX=0;AN_ami_XX=0;nhomalt_ami_XX=0;AC_ami_XY=0;AN_ami_XY=0;nhomalt_ami_XY=0;AC_ami=0;AN_ami=0;nhomalt_ami=0;AC_amr_XX=0;AN_amr_XX=0;nhomalt_amr_XX=0;AC_amr_XY=0;AN_amr_XY=0;nhomalt_amr_XY=0;AC_amr=0;AN_amr=0;nhomalt_amr=0;AC_asj_XX=0;AN_asj_XX=0;nhomalt_asj_XX=0;AC_asj_XY=0;AN_asj_XY=0;nhomalt_asj_XY=0;AC_asj=0;AN_asj=0;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=2;nhomalt_eas_XX=0;AC_eas_XY=0;AN_eas_XY=0;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2;nhomalt_eas=0;AC_fin_XX=0;AN_fin_XX=0;nhomalt_fin_XX=0;AC_fin_XY=0;AN_fin_XY=0;nhomalt_fin_XY=0;AC_fin=0;AN_fin=0;nhomalt_fin=0;AC_mid_XX=0;AN_mid_XX=0;nhomalt_mid_XX=0;AC_mid_XY=0;AN_mid_XY=0;nhomalt_mid_XY=0;AC_mid=0;AN_mid=0;nhomalt_mid=0;AC_nfe_XX=0;AN_nfe_XX=0;nhomalt_nfe_XX=0;AC_nfe_XY=0;AN_nfe_XY=0;nhomalt_nfe_XY=0;AC_nfe=0;AN_nfe=0;nhomalt_nfe=0;AC_raw=2;AF_raw=6.56383e-05;AN_raw=30470;nhomalt_raw=1;AC_remaining_XX=0;AN_remaining_XX=0;nhomalt_remaining_XX=0;AC_remaining_XY=0;AN_remaining_XY=0;nhomalt_remaining_XY=0;AC_remaining=0;AN_remaining=0;nhomalt_remaining=0;AC_sas_XX=0;AN_sas_XX=0;nhomalt_sas_XX=0;AC_sas_XY=0;AN_sas_XY=0;nhomalt_sas_XY=0;AC_sas=0;AN_sas=0;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;MQ=31.9270;MQRankSum=0.804000;QUALapprox=94;QD=31.3333;ReadPosRankSum=0.804000;SOR=1.17900;VarDP=3;AS_MQ=31.9270;AS_MQRankSum=0.804000;AS_pab_max=1.00000;AS_QUALapprox=94;AS_QD=31.3333;AS_ReadPosRankSum=0.804000;AS_SB_TABLE=1,0|2,0;AS_SOR=1.17865;AS_VarDP=3;inbreeding_coeff=1.00000;AS_culprit=AS_QD;AS_VQSLOD=-3.63820;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.388811;cadd_phred=5.30200;phylop=0.433000;VRS_Allele_IDs=ga4gh:VA.bu72DxUGGXFsSVnIaXHpUa_5414J0ktx,ga4gh:VA.8iI3KWLwVwnL8iPRcndPPkX1HxAbiHzn;VRS_Starts=5030084,5030084;VRS_Ends=5030085,5030085;VRS_States=A,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.697+1860A>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.346+1860A>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.346+1860A>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*311+1860A>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.697+1860A>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.697+1860A>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.697+1860A>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.697+1860A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.697+1860A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030088	rs1455320509	C	T	.	AC0;AS_VQSR	AC=0;AN=2;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=2;nhomalt_XX=0;AC_XY=0;AN_XY=0;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AN_afr_XX=0;nhomalt_afr_XX=0;AC_afr_XY=0;AN_afr_XY=0;nhomalt_afr_XY=0;AC_afr=0;AN_afr=0;nhomalt_afr=0;AC_ami_XX=0;AN_ami_XX=0;nhomalt_ami_XX=0;AC_ami_XY=0;AN_ami_XY=0;nhomalt_ami_XY=0;AC_ami=0;AN_ami=0;nhomalt_ami=0;AC_amr_XX=0;AN_amr_XX=0;nhomalt_amr_XX=0;AC_amr_XY=0;AN_amr_XY=0;nhomalt_amr_XY=0;AC_amr=0;AN_amr=0;nhomalt_amr=0;AC_asj_XX=0;AN_asj_XX=0;nhomalt_asj_XX=0;AC_asj_XY=0;AN_asj_XY=0;nhomalt_asj_XY=0;AC_asj=0;AN_asj=0;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=2;nhomalt_eas_XX=0;AC_eas_XY=0;AN_eas_XY=0;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2;nhomalt_eas=0;AC_fin_XX=0;AN_fin_XX=0;nhomalt_fin_XX=0;AC_fin_XY=0;AN_fin_XY=0;nhomalt_fin_XY=0;AC_fin=0;AN_fin=0;nhomalt_fin=0;AC_mid_XX=0;AN_mid_XX=0;nhomalt_mid_XX=0;AC_mid_XY=0;AN_mid_XY=0;nhomalt_mid_XY=0;AC_mid=0;AN_mid=0;nhomalt_mid=0;AC_nfe_XX=0;AN_nfe_XX=0;nhomalt_nfe_XX=0;AC_nfe_XY=0;AN_nfe_XY=0;nhomalt_nfe_XY=0;AC_nfe=0;AN_nfe=0;nhomalt_nfe=0;AC_raw=1195;AF_raw=0.0443842;AN_raw=26924;nhomalt_raw=536;AC_remaining_XX=0;AN_remaining_XX=0;nhomalt_remaining_XX=0;AC_remaining_XY=0;AN_remaining_XY=0;nhomalt_remaining_XY=0;AC_remaining=0;AN_remaining=0;nhomalt_remaining=0;AC_sas_XX=0;AN_sas_XX=0;nhomalt_sas_XX=0;AC_sas_XY=0;AN_sas_XY=0;nhomalt_sas_XY=0;AC_sas=0;AN_sas=0;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=27.3367;MQRankSum=0.727000;QUALapprox=99761;QD=26.6812;ReadPosRankSum=0.736000;SOR=4.00800;VarDP=3739;AS_FS=.;AS_MQ=27.3367;AS_MQRankSum=0.727000;AS_pab_max=1.00000;AS_QUALapprox=99761;AS_QD=26.6812;AS_ReadPosRankSum=0.736000;AS_SB_TABLE=447,0|3292,0;AS_SOR=4.00786;AS_VarDP=3739;inbreeding_coeff=0.892291;AS_culprit=AS_SOR;AS_VQSLOD=-13.5163;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.295122;cadd_phred=4.23200;phylop=0.553000;VRS_Allele_IDs=ga4gh:VA.HxxrIzg5Jule-75Roaf7QrLb4VgJktcW,ga4gh:VA.NknnhzxANdc7VDNVDy-0ua1yBMS8oZiz;VRS_Starts=5030087,5030087;VRS_Ends=5030088,5030088;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.697+1863C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.346+1863C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.346+1863C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*311+1863C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.697+1863C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.697+1863C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.697+1863C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.697+1863C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.697+1863C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030103	.	C	A	.	AC0;AS_VQSR	AC=0;AN=2;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=2;nhomalt_XX=0;AC_XY=0;AN_XY=0;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AN_afr_XX=0;nhomalt_afr_XX=0;AC_afr_XY=0;AN_afr_XY=0;nhomalt_afr_XY=0;AC_afr=0;AN_afr=0;nhomalt_afr=0;AC_ami_XX=0;AN_ami_XX=0;nhomalt_ami_XX=0;AC_ami_XY=0;AN_ami_XY=0;nhomalt_ami_XY=0;AC_ami=0;AN_ami=0;nhomalt_ami=0;AC_amr_XX=0;AN_amr_XX=0;nhomalt_amr_XX=0;AC_amr_XY=0;AN_amr_XY=0;nhomalt_amr_XY=0;AC_amr=0;AN_amr=0;nhomalt_amr=0;AC_asj_XX=0;AN_asj_XX=0;nhomalt_asj_XX=0;AC_asj_XY=0;AN_asj_XY=0;nhomalt_asj_XY=0;AC_asj=0;AN_asj=0;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=2;nhomalt_eas_XX=0;AC_eas_XY=0;AN_eas_XY=0;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2;nhomalt_eas=0;AC_fin_XX=0;AN_fin_XX=0;nhomalt_fin_XX=0;AC_fin_XY=0;AN_fin_XY=0;nhomalt_fin_XY=0;AC_fin=0;AN_fin=0;nhomalt_fin=0;AC_mid_XX=0;AN_mid_XX=0;nhomalt_mid_XX=0;AC_mid_XY=0;AN_mid_XY=0;nhomalt_mid_XY=0;AC_mid=0;AN_mid=0;nhomalt_mid=0;AC_nfe_XX=0;AN_nfe_XX=0;nhomalt_nfe_XX=0;AC_nfe_XY=0;AN_nfe_XY=0;nhomalt_nfe_XY=0;AC_nfe=0;AN_nfe=0;nhomalt_nfe=0;AC_raw=2;AF_raw=5.75043e-05;AN_raw=34780;nhomalt_raw=1;AC_remaining_XX=0;AN_remaining_XX=0;nhomalt_remaining_XX=0;AC_remaining_XY=0;AN_remaining_XY=0;nhomalt_remaining_XY=0;AC_remaining=0;AN_remaining=0;nhomalt_remaining=0;AC_sas_XX=0;AN_sas_XX=0;nhomalt_sas_XX=0;AC_sas_XY=0;AN_sas_XY=0;nhomalt_sas_XY=0;AC_sas=0;AN_sas=0;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;MQ=27.0000;QUALapprox=75;QD=75.0000;SOR=1.60900;VarDP=1;AS_MQ=27.0000;AS_QUALapprox=75;AS_QD=75.0000;AS_SB_TABLE=0,0|1,0;AS_SOR=1.60944;AS_VarDP=1;inbreeding_coeff=1.00000;AS_culprit=AS_MQ;AS_VQSLOD=-5.09450;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0909820;cadd_phred=2.01200;phylop=-0.201000;VRS_Allele_IDs=ga4gh:VA.3PUWw-Olta40-StKnkTrzfr8mQ8ls67g,ga4gh:VA.XUZ9xxwVU9_NYfOJMKlW1YLJIsUNW1mv;VRS_Starts=5030102,5030102;VRS_Ends=5030103,5030103;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.697+1878C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.346+1878C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.346+1878C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*311+1878C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.697+1878C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.697+1878C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.697+1878C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.697+1878C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.697+1878C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030105	rs1173141359	C	A	.	AC0;AS_VQSR	AC=0;AN=4;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=4;nhomalt_XX=0;AC_XY=0;AN_XY=0;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=2;nhomalt_afr_XX=0;AC_afr_XY=0;AN_afr_XY=0;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=2;nhomalt_afr=0;AC_ami_XX=0;AN_ami_XX=0;nhomalt_ami_XX=0;AC_ami_XY=0;AN_ami_XY=0;nhomalt_ami_XY=0;AC_ami=0;AN_ami=0;nhomalt_ami=0;AC_amr_XX=0;AN_amr_XX=0;nhomalt_amr_XX=0;AC_amr_XY=0;AN_amr_XY=0;nhomalt_amr_XY=0;AC_amr=0;AN_amr=0;nhomalt_amr=0;AC_asj_XX=0;AN_asj_XX=0;nhomalt_asj_XX=0;AC_asj_XY=0;AN_asj_XY=0;nhomalt_asj_XY=0;AC_asj=0;AN_asj=0;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=2;nhomalt_eas_XX=0;AC_eas_XY=0;AN_eas_XY=0;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2;nhomalt_eas=0;AC_fin_XX=0;AN_fin_XX=0;nhomalt_fin_XX=0;AC_fin_XY=0;AN_fin_XY=0;nhomalt_fin_XY=0;AC_fin=0;AN_fin=0;nhomalt_fin=0;AC_mid_XX=0;AN_mid_XX=0;nhomalt_mid_XX=0;AC_mid_XY=0;AN_mid_XY=0;nhomalt_mid_XY=0;AC_mid=0;AN_mid=0;nhomalt_mid=0;AC_nfe_XX=0;AN_nfe_XX=0;nhomalt_nfe_XX=0;AC_nfe_XY=0;AN_nfe_XY=0;nhomalt_nfe_XY=0;AC_nfe=0;AN_nfe=0;nhomalt_nfe=0;AC_raw=1402;AF_raw=0.0462127;AN_raw=30338;nhomalt_raw=617;AC_remaining_XX=0;AN_remaining_XX=0;nhomalt_remaining_XX=0;AC_remaining_XY=0;AN_remaining_XY=0;nhomalt_remaining_XY=0;AC_remaining=0;AN_remaining=0;nhomalt_remaining=0;AC_sas_XX=0;AN_sas_XX=0;nhomalt_sas_XX=0;AC_sas_XY=0;AN_sas_XY=0;nhomalt_sas_XY=0;AC_sas=0;AN_sas=0;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=27.3850;MQRankSum=0.00000;QUALapprox=128746;QD=26.9174;ReadPosRankSum=0.727000;SOR=3.70800;VarDP=4783;AS_FS=.;AS_MQ=27.3850;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=128746;AS_QD=26.9174;AS_ReadPosRankSum=0.727000;AS_SB_TABLE=654,0|4129,0;AS_SOR=3.70764;AS_VarDP=4783;inbreeding_coeff=0.874365;AS_culprit=AS_SOR;AS_VQSLOD=-11.5268;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|2|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|2|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.202678;cadd_phred=0.504000;phylop=-0.235000;VRS_Allele_IDs=ga4gh:VA.k74R6AOwVmlErgAOPCtYw3ISs63nMNYS,ga4gh:VA.903gyjhZZbTAavAkuYk78VefdOm6uhIX;VRS_Starts=5030104,5030104;VRS_Ends=5030105,5030105;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.697+1880C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.346+1880C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.346+1880C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*311+1880C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.697+1880C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.697+1880C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.697+1880C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.697+1880C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.697+1880C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030138	.	G	A	.	AC0;AS_VQSR	AC=0;AN=20;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=10;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=10;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=2;nhomalt_afr_XX=0;AC_afr_XY=0;AN_afr_XY=0;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=2;nhomalt_afr=0;AC_ami_XX=0;AN_ami_XX=0;nhomalt_ami_XX=0;AC_ami_XY=0;AN_ami_XY=0;nhomalt_ami_XY=0;AC_ami=0;AN_ami=0;nhomalt_ami=0;AC_amr_XX=0;AN_amr_XX=0;nhomalt_amr_XX=0;AC_amr_XY=0;AN_amr_XY=0;nhomalt_amr_XY=0;AC_amr=0;AN_amr=0;nhomalt_amr=0;AC_asj_XX=0;AN_asj_XX=0;nhomalt_asj_XX=0;AC_asj_XY=0;AN_asj_XY=0;nhomalt_asj_XY=0;AC_asj=0;AN_asj=0;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=2;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4;nhomalt_eas=0;AC_fin_XX=0;AN_fin_XX=0;nhomalt_fin_XX=0;AC_fin_XY=0;AN_fin_XY=0;nhomalt_fin_XY=0;AC_fin=0;AN_fin=0;nhomalt_fin=0;AC_mid_XX=0;AN_mid_XX=0;nhomalt_mid_XX=0;AC_mid_XY=0;AN_mid_XY=0;nhomalt_mid_XY=0;AC_mid=0;AN_mid=0;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=4;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=6;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=10;nhomalt_nfe=0;AC_raw=4;AF_raw=8.97787e-05;AN_raw=44554;nhomalt_raw=2;AC_remaining_XX=0;AN_remaining_XX=0;nhomalt_remaining_XX=0;AC_remaining_XY=0;AN_remaining_XY=0;nhomalt_remaining_XY=0;AC_remaining=0;AN_remaining=0;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=2;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=4;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=30.7693;MQRankSum=0.736000;QUALapprox=192;QD=24.0000;ReadPosRankSum=0.736000;SOR=1.86300;VarDP=8;AS_MQ=27.0000;AS_QUALapprox=77;AS_QD=38.5000;AS_SB_TABLE=2,0|2,0;AS_SOR=0.693147;AS_VarDP=2;inbreeding_coeff=1.00000;AS_culprit=AS_MQ;AS_VQSLOD=-4.69600;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|10|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|8|0|2|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.159913;cadd_phred=0.622000;phylop=-2.21800;VRS_Allele_IDs=ga4gh:VA.Jd2RMLt_QpAjsexNa84kFP2jpmMUAqxy,ga4gh:VA.Vi4X2fRhYeKhl4IuVaituKN7zi0KxB9_;VRS_Starts=5030137,5030137;VRS_Ends=5030138,5030138;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.697+1913G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.346+1913G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.346+1913G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*311+1913G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.697+1913G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.697+1913G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.697+1913G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.697+1913G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.697+1913G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030144	.	G	A	.	AC0;AS_VQSR	AC=0;AN=32;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=16;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=16;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=6;nhomalt_afr_XX=0;AC_afr_XY=0;AN_afr_XY=0;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=6;nhomalt_afr=0;AC_ami_XX=0;AN_ami_XX=0;nhomalt_ami_XX=0;AC_ami_XY=0;AN_ami_XY=0;nhomalt_ami_XY=0;AC_ami=0;AN_ami=0;nhomalt_ami=0;AC_amr_XX=0;AN_amr_XX=0;nhomalt_amr_XX=0;AC_amr_XY=0;AN_amr_XY=0;nhomalt_amr_XY=0;AC_amr=0;AN_amr=0;nhomalt_amr=0;AC_asj_XX=0;AN_asj_XX=0;nhomalt_asj_XX=0;AC_asj_XY=0;AN_asj_XY=0;nhomalt_asj_XY=0;AC_asj=0;AN_asj=0;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=2;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4;nhomalt_eas=0;AC_fin_XX=0;AN_fin_XX=0;nhomalt_fin_XX=0;AC_fin_XY=0;AN_fin_XY=0;nhomalt_fin_XY=0;AC_fin=0;AN_fin=0;nhomalt_fin=0;AC_mid_XX=0;AN_mid_XX=0;nhomalt_mid_XX=0;AC_mid_XY=0;AN_mid_XY=0;nhomalt_mid_XY=0;AC_mid=0;AN_mid=0;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=6;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=8;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=14;nhomalt_nfe=0;AC_raw=2;AF_raw=4.17955e-05;AN_raw=47852;nhomalt_raw=1;AC_remaining_XX=0;AN_remaining_XX=0;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=2;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=2;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=2;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=4;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=6;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;MQ=27.0000;QUALapprox=76;QD=38.0000;SOR=2.30300;VarDP=2;AS_MQ=27.0000;AS_QUALapprox=76;AS_QD=38.0000;AS_SB_TABLE=0,0|2,0;AS_SOR=2.30259;AS_VarDP=2;inbreeding_coeff=1.00000;AS_culprit=AS_SOR;AS_VQSLOD=-5.95710;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|16|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|12|1|2|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0810390;cadd_phred=0.908000;phylop=-1.23800;VRS_Allele_IDs=ga4gh:VA.G8v2B8YW-1kclRz-RzWhG_hG5ctbHGU0,ga4gh:VA.YT8DHSHzqa4pjjUPbparWGOcax4aWI7y;VRS_Starts=5030143,5030143;VRS_Ends=5030144,5030144;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1909G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1909G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1909G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1909G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1909G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1909G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1909G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1909G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1909G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030151	rs1601770018	T	G	.	AC0;AS_VQSR	AC=0;AN=52;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=26;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=26;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=6;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=6;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=12;nhomalt_afr=0;AC_ami_XX=0;AN_ami_XX=0;nhomalt_ami_XX=0;AC_ami_XY=0;AN_ami_XY=0;nhomalt_ami_XY=0;AC_ami=0;AN_ami=0;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8;nhomalt_amr=0;AC_asj_XX=0;AN_asj_XX=0;nhomalt_asj_XX=0;AC_asj_XY=0;AN_asj_XY=0;nhomalt_asj_XY=0;AC_asj=0;AN_asj=0;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=2;nhomalt_eas_XX=0;AC_eas_XY=0;AN_eas_XY=0;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2;nhomalt_eas=0;AC_fin_XX=0;AN_fin_XX=0;nhomalt_fin_XX=0;AC_fin_XY=0;AN_fin_XY=0;nhomalt_fin_XY=0;AC_fin=0;AN_fin=0;nhomalt_fin=0;AC_mid_XX=0;AN_mid_XX=0;nhomalt_mid_XX=0;AC_mid_XY=0;AN_mid_XY=0;nhomalt_mid_XY=0;AC_mid=0;AN_mid=0;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=12;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=8;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=20;nhomalt_nfe=0;AC_raw=1;AF_raw=2.04901e-05;AN_raw=48804;nhomalt_raw=0;AC_remaining_XX=0;AN_remaining_XX=0;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=2;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=2;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=4;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=4;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=8;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=27.0000;MQRankSum=-0.720000;QUALapprox=61;QD=6.10000;ReadPosRankSum=0.720000;SOR=0.412000;VarDP=10;AS_FS=.;AS_MQ=27.0000;AS_MQRankSum=-0.720000;AS_pab_max=1.00000;AS_QUALapprox=61;AS_QD=6.10000;AS_ReadPosRankSum=0.720000;AS_SB_TABLE=6,0|4,0;AS_SOR=0.412245;AS_VarDP=10;inbreeding_coeff=-2.04905e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.62510;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|26|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|17|5|2|2|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.324371;cadd_phred=4.57100;phylop=0.440000;VRS_Allele_IDs=ga4gh:VA.q0yAIB8sTOf6TWl74i62sn6JbBkCkxI5,ga4gh:VA.yyezRKp-DONL47tcSgLI6dtDUJFgp7kY;VRS_Starts=5030150,5030150;VRS_Ends=5030151,5030151;VRS_States=T,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1902T>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1902T>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1902T>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1902T>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1902T>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1902T>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1902T>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1902T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1902T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030154	rs1461284410	T	C	.	AC0;AS_VQSR	AC=0;AN=70;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=36;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=34;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=6;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=8;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=14;nhomalt_afr=0;AC_ami_XX=0;AN_ami_XX=0;nhomalt_ami_XX=0;AC_ami_XY=0;AN_ami_XY=0;nhomalt_ami_XY=0;AC_ami=0;AN_ami=0;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=8;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=12;nhomalt_amr=0;AC_asj_XX=0;AN_asj_XX=0;nhomalt_asj_XX=0;AC_asj_XY=0;AN_asj_XY=0;nhomalt_asj_XY=0;AC_asj=0;AN_asj=0;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=6;nhomalt_eas_XX=0;AC_eas_XY=0;AN_eas_XY=0;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=6;nhomalt_eas=0;AC_fin_XX=0;AN_fin_XX=0;nhomalt_fin_XX=0;AC_fin_XY=0;AN_fin_XY=0;nhomalt_fin_XY=0;AC_fin=0;AN_fin=0;nhomalt_fin=0;AC_mid_XX=0;AN_mid_XX=0;nhomalt_mid_XX=0;AC_mid_XY=0;AN_mid_XY=0;nhomalt_mid_XY=0;AC_mid=0;AN_mid=0;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=16;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=12;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=28;nhomalt_nfe=0;AC_raw=9;AF_raw=0.000172209;AN_raw=52262;nhomalt_raw=3;AC_remaining_XX=0;AN_remaining_XX=0;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=2;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=2;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=4;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=4;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=8;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=30.0935;MQRankSum=-0.736000;QUALapprox=642;QD=22.1379;ReadPosRankSum=0.00000;SOR=2.22600;VarDP=29;AS_FS=.;AS_MQ=30.0935;AS_MQRankSum=-0.736000;AS_pab_max=1.00000;AS_QUALapprox=642;AS_QD=22.1379;AS_ReadPosRankSum=0.00000;AS_SB_TABLE=7,0|22,0;AS_SOR=2.22631;AS_VarDP=29;inbreeding_coeff=0.666609;AS_culprit=AS_SOR;AS_VQSLOD=-5.11230;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|33|1|1|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|25|6|2|2|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.391405;cadd_phred=5.33100;phylop=0.440000;VRS_Allele_IDs=ga4gh:VA.2aPbo_FOxecnlQs4eMNSkLQbxQPyIkZS,ga4gh:VA.lHCyMSbEVm33Z0Ea9k0FUHaHBhKulm8Z;VRS_Starts=5030153,5030153;VRS_Ends=5030154,5030154;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1899T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1899T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1899T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1899T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1899T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1899T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1899T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1899T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1899T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030179	.	C	A	.	AC0;AS_VQSR	AC=0;AN=322;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=168;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=154;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=28;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=42;nhomalt_afr=0;AC_ami_XX=0;AN_ami_XX=0;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=2;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=2;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=26;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=40;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=66;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=2;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=2;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=4;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=18;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=16;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=34;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=2;nhomalt_mid_XX=0;AC_mid_XY=0;AN_mid_XY=0;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=2;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=66;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=54;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=120;nhomalt_nfe=0;AC_raw=2;AF_raw=3.22331e-05;AN_raw=62048;nhomalt_raw=1;AC_remaining_XX=0;AN_remaining_XX=0;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=6;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=6;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=24;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=14;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=38;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;MQ=27.0000;QUALapprox=64;QD=32.0000;SOR=2.30300;VarDP=2;AS_MQ=27.0000;AS_QUALapprox=64;AS_QD=32.0000;AS_SB_TABLE=0,0|2,0;AS_SOR=2.30259;AS_VarDP=2;inbreeding_coeff=1.00000;AS_culprit=AS_SOR;AS_VQSLOD=-6.39810;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|155|4|2|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|108|37|11|3|1|1|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0143320;cadd_phred=1.24800;phylop=-0.367000;VRS_Allele_IDs=ga4gh:VA.nSURGIA7eGqFy1uhYz4ibFN2U78fH_Dr,ga4gh:VA.4TFywheBDYWiKCENDmSu1XyyRF4J5Uu7;VRS_Starts=5030178,5030178;VRS_Ends=5030179,5030179;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1874C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1874C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1874C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1874C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1874C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1874C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1874C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1874C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1874C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030186	.	CACTAAATGAGAACAAAATTTAAG	C	.	AC0	AC=0;AN=446;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=230;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=216;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=44;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=22;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=66;nhomalt_afr=0;AC_ami_XX=0;AN_ami_XX=0;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=2;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=2;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=38;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=50;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=88;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=4;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=6;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=10;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=24;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=24;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=48;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=2;nhomalt_mid_XX=0;AC_mid_XY=0;AN_mid_XY=0;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=2;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=88;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=80;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=168;nhomalt_nfe=0;AC_raw=1;AF_raw=1.54478e-05;AN_raw=64734;nhomalt_raw=0;AC_remaining_XX=0;AN_remaining_XX=0;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=8;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=8;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=28;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=18;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=46;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=30.0533;MQRankSum=0.731000;QUALapprox=165;QD=33.0000;SOR=1.98100;VarDP=5;AS_FS=.;AS_MQ=30.0533;AS_MQRankSum=0.731000;AS_pab_max=0.375000;AS_QUALapprox=165;AS_QD=33.0000;AS_SB_TABLE=1,0|4,0;AS_SOR=1.98100;AS_VarDP=5;inbreeding_coeff=-1.54481e-05;AS_culprit=AS_FS;AS_VQSLOD=8.74260;allele_type=del;n_alt_alleles=1;variant_type=indel;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|214|7|2|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|152|48|15|6|1|1|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0766420;cadd_phred=1.89000;phylop=-0.219000;VRS_Allele_IDs=ga4gh:VA.8Rn8cLXiDNJqob9zxlgTbwWBVC31OB_B,ga4gh:VA.xkBGm1quNq-HK_jpznF7IypGSIpixlgm;VRS_Starts=5030185,5030186;VRS_Ends=5030209,5030210;VRS_States=CACTAAATGAGAACAAAATTTAAG,A;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1865_698-1843del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1865_347-1843del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1865_347-1843del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1865_*312-1843del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1865_698-1843del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1865_698-1843del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1865_698-1843del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1865_698-1843del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1865_698-1843del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030192	rs1172282560	A	G	.	AC0;AS_VQSR	AC=0;AN=626;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=312;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=314;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=60;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=30;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=90;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=2;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=2;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=4;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=58;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=66;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=124;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=4;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=6;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=10;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=26;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=32;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=58;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=8;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=10;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=2;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=2;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=4;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=122;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=126;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=248;nhomalt_nfe=0;AC_raw=2;AF_raw=2.93979e-05;AN_raw=68032;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=2;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=8;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=10;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=34;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=34;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=68;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;MQ=36.1893;QUALapprox=101;QD=33.6667;SOR=2.83300;VarDP=3;AS_MQ=36.1893;AS_QUALapprox=101;AS_QD=33.6667;AS_SB_TABLE=0,0|3,0;AS_SOR=2.83321;AS_VarDP=3;inbreeding_coeff=1.00000;AS_culprit=AS_SOR;AS_VQSLOD=-5.54480;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|299|10|4|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|221|57|20|9|5|1|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.487164;cadd_phred=6.37000;phylop=0.433000;VRS_Allele_IDs=ga4gh:VA._wg0Tw_FwwHs-uZQBptK1tDgaoreXlNj,ga4gh:VA.h-RAnAGbazOQ8M5C1lDxQIRzwG_YGMON;VRS_Starts=5030191,5030191;VRS_Ends=5030192,5030192;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1861A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1861A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1861A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1861A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1861A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1861A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1861A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1861A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1861A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030208	rs1477912554	A	G	.	AC0;AS_VQSR	AC=0;AN=1286;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=674;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=612;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=130;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=86;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=216;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=2;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=2;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=4;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=114;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=126;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=240;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=12;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=12;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=24;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=42;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=52;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=94;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=6;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=18;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=24;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=4;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=8;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=12;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=308;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=228;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=536;nhomalt_nfe=0;AC_raw=8;AF_raw=0.000105302;AN_raw=75972;nhomalt_raw=2;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=10;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=20;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=30;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=46;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=60;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=106;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=29.7886;MQRankSum=0.736000;QUALapprox=476;QD=21.6364;ReadPosRankSum=0.727000;SOR=1.93100;VarDP=22;AS_FS=.;AS_MQ=29.7886;AS_MQRankSum=0.736000;AS_pab_max=1.00000;AS_QUALapprox=476;AS_QD=21.6364;AS_ReadPosRankSum=0.727000;AS_SB_TABLE=6,0|16,0;AS_SOR=1.93123;AS_VarDP=22;inbreeding_coeff=0.499947;AS_culprit=AS_MQ;AS_VQSLOD=-4.52670;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|600|28|15|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|466|105|45|18|8|1|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.296139;cadd_phred=4.24400;phylop=0.433000;VRS_Allele_IDs=ga4gh:VA.sVNmFvOgjCeCofWEGTpgSfPVhQyydWDc,ga4gh:VA.UtSt37DA5rRZCLMEDYx6_9lWONJ-j7d2;VRS_Starts=5030207,5030207;VRS_Ends=5030208,5030208;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1845A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1845A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1845A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1845A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1845A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1845A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1845A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1845A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1845A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030217	.	T	G	.	AC0;AS_VQSR	AC=0;AN=1804;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=1004;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=800;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=192;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=122;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=314;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=8;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=8;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=16;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=160;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=166;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=326;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=20;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=16;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=36;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=54;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=64;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=118;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=16;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=32;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=48;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=6;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=8;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=14;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=476;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=288;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=764;nhomalt_nfe=0;AC_raw=4;AF_raw=5.10074e-05;AN_raw=78420;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=14;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=18;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=32;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=58;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=78;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=136;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=30.0562;MQRankSum=0.720000;QUALapprox=110;QD=6.87500;ReadPosRankSum=-0.358000;SOR=0.340000;VarDP=16;AS_FS=.;AS_MQ=30.0562;AS_MQRankSum=0.720000;AS_pab_max=1.00000;AS_QUALapprox=110;AS_QD=6.87500;AS_ReadPosRankSum=-0.358000;AS_SB_TABLE=10,0|6,0;AS_SOR=0.340008;AS_VarDP=16;inbreeding_coeff=0.499974;AS_culprit=AS_MQ;AS_VQSLOD=-4.00350;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|827|48|27|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|652|153|61|25|10|1|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.360421;cadd_phred=4.98300;phylop=0.434000;VRS_Allele_IDs=ga4gh:VA.zyQDdsAsYIWOdByKEdDUfpWaEkvVVZJc,ga4gh:VA.Ta0iiU0DRdpC8ZuZsSmQAKEIxrIx-O0w;VRS_Starts=5030216,5030216;VRS_Ends=5030217,5030217;VRS_States=T,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1836T>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1836T>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1836T>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1836T>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1836T>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1836T>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1836T>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1836T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1836T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030218	rs1416749598	TA	T	.	AC0	AC=0;AN=1974;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=1094;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=880;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=224;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=140;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=364;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=8;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=8;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=16;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=168;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=174;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=342;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=20;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=16;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=36;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=56;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=72;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=128;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=18;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=34;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=52;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=6;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=14;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=20;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=518;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=312;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=830;nhomalt_nfe=0;AC_raw=2;AF_raw=2.50006e-05;AN_raw=79998;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=12;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=22;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=34;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=64;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=88;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=152;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;MQ=27.0000;QUALapprox=81;QD=40.5000;SOR=2.30300;VarDP=2;AS_MQ=27.0000;AS_QUALapprox=81;AS_QD=40.5000;AS_SB_TABLE=0,0|2,0;AS_SOR=2.30259;AS_VarDP=2;inbreeding_coeff=1.00000;AS_culprit=AS_FS;AS_VQSLOD=5.11420;allele_type=del;n_alt_alleles=1;variant_type=indel;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|895|59|33|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|718|163|65|28|12|1|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.00101800;cadd_phred=1.34200;phylop=-1.21200;VRS_Allele_IDs=ga4gh:VA.ZvWhUXhyFTL6mxeJoJ3iRHtzJTvX9g0e,ga4gh:VA.sFb5YJSrnQrj2jJ3ki50LpaDwk8yEfoc;VRS_Starts=5030217,5030218;VRS_Ends=5030219,5030219;VRS_States=TA,;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1834del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1834del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1834del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1834del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1834del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1834del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1834del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1834del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1834del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030235	.	C	T	.	AC0;AS_VQSR	AC=0;AN=3440;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=1926;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=1514;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=392;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=238;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=630;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=10;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=14;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=24;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=264;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=270;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=534;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=32;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=22;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=54;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=98;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=132;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=230;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=48;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=70;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=118;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=14;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=14;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=28;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=936;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=580;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=1516;nhomalt_nfe=0;AC_raw=2;AF_raw=2.27283e-05;AN_raw=87996;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=36;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=32;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=68;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=96;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=142;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=238;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;MQ=34.1248;QUALapprox=67;QD=33.5000;SOR=2.30300;VarDP=2;AS_MQ=34.1248;AS_QUALapprox=67;AS_QD=33.5000;AS_SB_TABLE=0,0|2,0;AS_SOR=2.30259;AS_VarDP=2;inbreeding_coeff=1.00000;AS_culprit=AS_SOR;AS_VQSLOD=-4.43000;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|1534|122|64|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|1264|282|109|46|18|1|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.179907;cadd_phred=2.89800;phylop=0.537000;VRS_Allele_IDs=ga4gh:VA.5Fnj7gG4jDua7CMmapJczmp0e3JP3XMs,ga4gh:VA._d1CWfN0KS-p2-uNEVLiosLEDWjjhTaC;VRS_Starts=5030234,5030234;VRS_Ends=5030235,5030235;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1818C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1818C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1818C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1818C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1818C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1818C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1818C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1818C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1818C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030240	rs1185110752	AC	A	.	PASS	AC=19;AN=3780;AF=0.00502646;grpmax=sas;fafmax_faf95_max=0.0151934;fafmax_faf95_max_gen_anc=sas;AC_XX=13;AF_XX=0.00623800;AN_XX=2084;nhomalt_XX=1;AC_XY=6;AF_XY=0.00353774;AN_XY=1696;nhomalt_XY=0;nhomalt=1;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=408;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=272;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=680;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=12;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=14;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=26;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=272;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=284;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=556;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=34;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=26;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=60;nhomalt_asj=0;AC_eas_XX=3;AF_eas_XX=0.0288462;AN_eas_XX=104;nhomalt_eas_XX=0;AC_eas_XY=2;AF_eas_XY=0.0142857;AN_eas_XY=140;nhomalt_eas_XY=0;AC_eas=5;AF_eas=0.0204918;AN_eas=244;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=60;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=86;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=146;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=16;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=14;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=30;nhomalt_mid=0;AC_nfe_XX=2;AF_nfe_XX=0.00194553;AN_nfe_XX=1028;nhomalt_nfe_XX=0;AC_nfe_XY=1;AF_nfe_XY=0.00148368;AN_nfe_XY=674;nhomalt_nfe_XY=0;AC_nfe=3;AF_nfe=0.00176263;AN_nfe=1702;nhomalt_nfe=0;AC_raw=332;AF_raw=0.00367224;AN_raw=90408;nhomalt_raw=93;AC_remaining_XX=3;AF_remaining_XX=0.0714286;AN_remaining_XX=42;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=32;nhomalt_remaining_XY=0;AC_remaining=3;AF_remaining=0.0405405;AN_remaining=74;nhomalt_remaining=0;AC_sas_XX=5;AF_sas_XX=0.0462963;AN_sas_XX=108;nhomalt_sas_XX=1;AC_sas_XY=3;AF_sas_XY=0.0194805;AN_sas_XY=154;nhomalt_sas_XY=0;AC_sas=8;AF_sas=0.0305344;AN_sas=262;nhomalt_sas=1;AC_grpmax=8;AF_grpmax=0.0305344;AN_grpmax=262;nhomalt_grpmax=1;faf95=0.00329130;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00807424;faf95_nfe=0.000479710;faf95_sas=0.0151934;faf99=0.00273653;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00524162;faf99_nfe=0.000256100;faf99_sas=0.0110920;fafmax_faf99_max=0.0110920;fafmax_faf99_max_gen_anc=sas;age_hist_het_bin_freq=0|0|0|1|1|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=29.6310;MQRankSum=0.322000;QUALapprox=60052;QD=19.6377;ReadPosRankSum=0.289000;SOR=1.64000;VarDP=3058;AS_FS=.;AS_MQ=29.6310;AS_MQRankSum=0.322000;AS_pab_max=1.00000;AS_QUALapprox=60052;AS_QD=19.6377;AS_ReadPosRankSum=0.289000;AS_SB_TABLE=1006,0|2052,0;AS_SOR=1.64024;AS_VarDP=3058;inbreeding_coeff=0.558620;AS_culprit=AS_FS;AS_VQSLOD=12.3863;allele_type=del;n_alt_alleles=1;variant_type=indel;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|1|0|0|0|0|0|0|2|0|0|0|0|1|11;gq_hist_all_bin_freq=0|0|0|0|1654|138|80|3|0|0|0|0|0|2|0|0|0|0|1|11;dp_hist_alt_bin_freq=0|0|15|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|1397|305|116|51|19|1|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|2|1|2|1|5|0|1|2|0|0|0|0|0|0;cadd_raw_score=-0.197017;cadd_phred=0.518000;pangolin_largest_ds=0.00000;phylop=-0.383000;VRS_Allele_IDs=ga4gh:VA.AYkd1BvugYvmYuYOlmOfF5wX99j4DayE,ga4gh:VA.0e6Ych4xCyRnWubdnFyW3QLCKV_41uSp;VRS_Starts=5030239,5030240;VRS_Ends=5030241,5030245;VRS_States=AC,CCCC;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1808del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1808del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1808del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1808del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1808del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1808del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1808del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1808del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1808del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030242	.	C	T	.	AC0;AS_VQSR	AC=0;AN=3832;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=2122;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=1710;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=430;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=270;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=700;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=12;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=14;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=26;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=274;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=294;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=568;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=36;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=26;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=62;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=104;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=138;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=242;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=60;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=90;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=150;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=18;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=14;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=32;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=1048;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=672;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=1720;nhomalt_nfe=0;AC_raw=2;AF_raw=2.25662e-05;AN_raw=88628;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=36;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=38;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=74;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=104;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=154;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=258;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=29.2135;MQRankSum=-0.358000;QUALapprox=98;QD=14.0000;ReadPosRankSum=1.23100;SOR=0.941000;VarDP=7;AS_FS=.;AS_MQ=27.0000;AS_QUALapprox=64;AS_QD=32.0000;AS_SB_TABLE=3,0|2,0;AS_SOR=0.446287;AS_VarDP=2;inbreeding_coeff=1.00000;AS_culprit=AS_MQ;AS_VQSLOD=-5.66940;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|1700|143|66|6|1|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|1410|314|121|51|19|1|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.220297;cadd_phred=3.35700;phylop=0.552000;VRS_Allele_IDs=ga4gh:VA._jqPUnk1rGaasoTyRkoGhqqnOtxhmYes,ga4gh:VA.nj0UKg7nYxjlNscyyks1ledNJ6oI9wqZ;VRS_Starts=5030241,5030241;VRS_Ends=5030242,5030242;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1811C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1811C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1811C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1811C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1811C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1811C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1811C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1811C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1811C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030249	.	T	C	.	AC0;AS_VQSR	AC=0;AN=4630;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=2554;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=2076;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=526;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=318;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=844;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=16;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=14;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=30;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=312;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=366;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=678;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=46;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=36;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=82;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=112;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=162;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=274;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=82;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=110;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=192;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=20;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=16;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=36;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=1276;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=822;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=2098;nhomalt_nfe=0;AC_raw=2;AF_raw=2.17259e-05;AN_raw=92056;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=40;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=42;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=82;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=124;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=190;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=314;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=28.8010;MQRankSum=1.23100;QUALapprox=187;QD=7.19231;ReadPosRankSum=0.736000;SOR=0.269000;VarDP=26;AS_FS=.;AS_MQ=27.0000;AS_MQRankSum=1.23100;AS_pab_max=1.00000;AS_QUALapprox=128;AS_QD=16.0000;AS_ReadPosRankSum=0.736000;AS_SB_TABLE=17,0|5,0;AS_SOR=0.105361;AS_VarDP=8;inbreeding_coeff=-2.17264e-05;AS_culprit=AS_MQ;AS_VQSLOD=-4.97120;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|2036|185|82|11|1|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|1714|372|142|62|24|1|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.285495;cadd_phred=4.12000;phylop=-0.353000;VRS_Allele_IDs=ga4gh:VA.KyliMutA7TIg6zjPA-N3q0EqQH745GhF,ga4gh:VA.QMC4cbZilR3gfNcaIQRp3krN-UxJKLeu;VRS_Starts=5030248,5030248;VRS_Ends=5030249,5030249;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1804T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1804T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1804T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1804T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1804T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1804T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1804T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1804T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1804T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030253	rs1486393480	G	T	.	AS_VQSR	AC=1;AN=5188;AF=0.000192753;grpmax=nfe;AC_XX=0;AF_XX=0.00000;AN_XX=2874;nhomalt_XX=0;AC_XY=1;AF_XY=0.000432152;AN_XY=2314;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=596;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=374;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=970;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=18;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=14;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=32;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=336;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=394;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=730;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=52;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=38;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=90;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=124;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=182;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=306;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=102;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=134;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=236;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=22;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=18;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=40;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=1438;nhomalt_nfe_XX=0;AC_nfe_XY=1;AF_nfe_XY=0.00110375;AN_nfe_XY=906;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=0.000426621;AN_nfe=2344;nhomalt_nfe=0;AC_raw=3;AF_raw=3.20355e-05;AN_raw=93646;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=48;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=46;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=94;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=138;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=208;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=346;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000426621;AN_grpmax=2344;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=27.7235;MQRankSum=-0.937000;QUALapprox=318;QD=14.4545;ReadPosRankSum=0.550000;SOR=0.874000;VarDP=22;AS_FS=.;AS_MQ=27.7235;AS_MQRankSum=-0.937000;AS_pab_max=1.00000;AS_QUALapprox=318;AS_QD=14.4545;AS_ReadPosRankSum=0.550000;AS_SB_TABLE=10,0|12,0;AS_SOR=0.874090;AS_VarDP=22;inbreeding_coeff=-3.20366e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.65760;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|2239|227|103|13|2|0|0|0|0|0|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|1919|414|156|69|26|1|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.236847;cadd_phred=3.55000;phylop=0.570000;VRS_Allele_IDs=ga4gh:VA.Rs0ucQsML21r1dOPUNacVaAH7Lyv8ACL,ga4gh:VA.Gr28DkoYSCSAkSPHQbhD6f11Mk7DskXY;VRS_Starts=5030252,5030252;VRS_Ends=5030253,5030253;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1800G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1800G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1800G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1800G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1800G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1800G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1800G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1800G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1800G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030262	.	C	A	.	AC0;AS_VQSR	AC=0;AN=6230;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=3470;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=2760;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=722;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=476;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=1198;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=28;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=22;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=50;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=398;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=450;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=848;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=56;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=46;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=102;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=148;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=196;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=344;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=160;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=194;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=354;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=32;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=22;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=54;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=1718;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=1084;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=2802;nhomalt_nfe=0;AC_raw=2;AF_raw=2.08052e-05;AN_raw=96130;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=60;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=44;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=104;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=148;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=226;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=374;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=27.0000;MQRankSum=0.736000;QUALapprox=65;QD=13.0000;ReadPosRankSum=-0.736000;SOR=1.02200;VarDP=5;AS_FS=.;AS_MQ=27.0000;AS_MQRankSum=0.736000;AS_pab_max=1.00000;AS_QUALapprox=65;AS_QD=13.0000;AS_ReadPosRankSum=-0.736000;AS_SB_TABLE=2,0|3,0;AS_SOR=1.02165;AS_VarDP=5;inbreeding_coeff=1.00000;AS_culprit=AS_MQ;AS_VQSLOD=-4.77340;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|2718|245|133|16|3|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|2286|504|192|99|33|1|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.151150;cadd_phred=2.58800;phylop=0.575000;VRS_Allele_IDs=ga4gh:VA.wRw-TBrHAFJIqycIvbwQtcLl2-EnK4y5,ga4gh:VA.-91iwdeVudde7mguWv3gV52hq880IqGt;VRS_Starts=5030261,5030261;VRS_Ends=5030262,5030262;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1791C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1791C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1791C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1791C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1791C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1791C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1791C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1791C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1791C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030275	.	A	G	.	AC0;AS_VQSR	AC=0;AN=7910;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=4448;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=3462;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=910;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=618;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=1528;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=30;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=34;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=64;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=474;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=532;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=1006;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=80;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=62;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=142;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=190;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=232;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=422;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=214;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=296;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=510;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=34;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=24;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=58;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=2288;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=1368;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=3656;nhomalt_nfe=0;AC_raw=5;AF_raw=4.97879e-05;AN_raw=100426;nhomalt_raw=2;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=62;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=56;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=118;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=166;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=240;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=406;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=29.0823;MQRankSum=0.00000;QUALapprox=408;QD=22.6667;ReadPosRankSum=-1.02600;SOR=2.30300;VarDP=18;AS_FS=.;AS_MQ=28.1285;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=371;AS_QD=26.5000;AS_ReadPosRankSum=-1.02600;AS_SB_TABLE=4,0|12,0;AS_SOR=2.04898;AS_VarDP=14;inbreeding_coeff=0.799990;AS_culprit=AS_MQ;AS_VQSLOD=-6.15540;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|3446|332|160|13|4|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|2889|643|252|129|41|1|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0865680;cadd_phred=0.884000;phylop=-1.07000;VRS_Allele_IDs=ga4gh:VA.jHacFAy-jHeX-GU6SrwQADa20Dswpora,ga4gh:VA.kqmKdq1yWRvqfPwl7G2kCdxkwQiVrrjH;VRS_Starts=5030274,5030274;VRS_Ends=5030275,5030275;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1778A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1778A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1778A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1778A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1778A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1778A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1778A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1778A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1778A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030278	rs1258851236	C	G	.	AS_VQSR	AC=1;AN=8238;AF=0.000121389;grpmax=afr;AC_XX=1;AF_XX=0.000215610;AN_XX=4638;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=3600;nhomalt_XY=0;nhomalt=0;AC_afr_XX=1;AF_afr_XX=0.00104822;AN_afr_XX=954;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=666;nhomalt_afr_XY=0;AC_afr=1;AF_afr=0.000617284;AN_afr=1620;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=38;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=36;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=74;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=492;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=548;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=1040;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=78;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=64;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=142;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=194;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=240;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=434;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=234;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=310;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=544;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=30;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=24;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=54;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=2374;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=1408;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=3782;nhomalt_nfe=0;AC_raw=79;AF_raw=0.000778832;AN_raw=101434;nhomalt_raw=24;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=76;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=62;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=138;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=168;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=242;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=410;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000617284;AN_grpmax=1620;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|1|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=29.1689;MQRankSum=0.00000;QUALapprox=12587;QD=18.8146;ReadPosRankSum=0.358000;SOR=1.62700;VarDP=669;AS_FS=.;AS_MQ=29.1700;AS_MQRankSum=0.198000;AS_pab_max=1.00000;AS_QUALapprox=10641;AS_QD=19.3825;AS_ReadPosRankSum=0.358000;AS_SB_TABLE=221,0|376,0;AS_SOR=1.35683;AS_VarDP=549;inbreeding_coeff=0.607289;AS_culprit=AS_MQ;AS_VQSLOD=-3.88660;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|3575|354|159|14|3|0|0|0|0|0|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|2988|670|265|140|42|1|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0;cadd_raw_score=0.138591;cadd_phred=2.45900;phylop=-0.191000;VRS_Allele_IDs=ga4gh:VA.MNg-3uOgNYXGKHLQqPAJcEZ3kfPsfrhK,ga4gh:VA.JjEoNSWzNALGrEmzbd6YVhPblJVTNUDa;VRS_Starts=5030277,5030277;VRS_Ends=5030278,5030278;VRS_States=C,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1775C>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1775C>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1775C>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1775C>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1775C>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1775C>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1775C>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1775C>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1775C>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030287	rs1249916603	A	T	.	AC0;AS_VQSR	AC=0;AN=9774;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=5536;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=4238;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=1166;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=782;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=1948;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=40;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=38;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=78;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=558;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=626;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=1184;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=108;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=76;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=184;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=222;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=258;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=480;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=294;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=408;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=702;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=38;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=24;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=62;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=2836;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=1678;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=4514;nhomalt_nfe=0;AC_raw=1;AF_raw=9.61668e-06;AN_raw=103986;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=78;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=66;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=144;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=196;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=282;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=478;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=28.4285;MQRankSum=0.406000;QUALapprox=239;QD=21.7273;ReadPosRankSum=-0.406000;SOR=1.80200;VarDP=11;AS_FS=.;AS_MQ=28.4285;AS_MQRankSum=0.406000;AS_pab_max=1.00000;AS_QUALapprox=239;AS_QD=21.7273;AS_ReadPosRankSum=-0.406000;AS_SB_TABLE=3,0|8,0;AS_SOR=1.80212;AS_VarDP=11;inbreeding_coeff=-9.61677e-06;AS_culprit=AS_MQ;AS_VQSLOD=-5.14080;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|4255|405|202|22|3|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|3546|787|332|175|46|1|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0973110;cadd_phred=0.840000;phylop=-3.39100;VRS_Allele_IDs=ga4gh:VA.FStf7dl0d6BZqtI30Hlwn26eLEaGctvp,ga4gh:VA._IQUm8je-169L_EaR4_DV4OLyziuQf0C;VRS_Starts=5030286,5030286;VRS_Ends=5030287,5030287;VRS_States=A,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1766A>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1766A>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1766A>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1766A>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1766A>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1766A>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1766A>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1766A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1766A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030319	rs1231507777	C	G	.	AS_VQSR	AC=3;AN=16838;AF=0.000178168;grpmax=eas;fafmax_faf95_max=0.00124174;fafmax_faf95_max_gen_anc=eas;AC_XX=1;AF_XX=0.000104123;AN_XX=9604;nhomalt_XX=0;AC_XY=2;AF_XY=0.000276472;AN_XY=7234;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=2124;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=1400;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=3524;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=74;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=76;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=150;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=886;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=946;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=1832;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=210;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=174;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=384;nhomalt_asj=0;AC_eas_XX=1;AF_eas_XX=0.00324675;AN_eas_XX=308;nhomalt_eas_XX=0;AC_eas_XY=2;AF_eas_XY=0.00571429;AN_eas_XY=350;nhomalt_eas_XY=0;AC_eas=3;AF_eas=0.00455927;AN_eas=658;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=544;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=798;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1342;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=40;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=34;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=74;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=5032;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=2970;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=8002;nhomalt_nfe=0;AC_raw=53;AF_raw=0.000470425;AN_raw=112664;nhomalt_raw=10;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=134;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=104;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=238;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=252;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=382;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=634;nhomalt_sas=0;AC_grpmax=3;AF_grpmax=0.00455927;AN_grpmax=658;nhomalt_grpmax=0;faf95=4.80900e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00124174;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=2.50300e-05;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.000662470;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=0.000662470;fafmax_faf99_max_gen_anc=eas;age_hist_het_bin_freq=0|0|1|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=28.4095;MQRankSum=-0.358000;QUALapprox=10101;QD=15.2123;ReadPosRankSum=0.248000;SOR=1.06500;VarDP=664;AS_FS=.;AS_MQ=27.8126;AS_MQRankSum=-0.231000;AS_pab_max=1.00000;AS_QUALapprox=6770;AS_QD=14.1929;AS_ReadPosRankSum=0.358000;AS_SB_TABLE=279,0|266,0;AS_SOR=0.646736;AS_VarDP=477;inbreeding_coeff=0.377065;AS_culprit=AS_MQ;AS_VQSLOD=-3.90900;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|1|0|1;gq_hist_all_bin_freq=0|0|0|0|7035|868|415|58|6|2|1|0|0|0|0|0|0|1|0|3;dp_hist_alt_bin_freq=0|0|3|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|5998|1332|641|334|82|2|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|1|1|0|1|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.140106;cadd_phred=0.685000;phylop=-0.953000;VRS_Allele_IDs=ga4gh:VA.wwPKZLnP0piP_zY0qBwX4HbgS9dUPsEd,ga4gh:VA.UCLHxaHppdNZIsG4gryOVhJ4UwXVZHL0;VRS_Starts=5030318,5030318;VRS_Ends=5030319,5030319;VRS_States=C,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1734C>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1734C>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1734C>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1734C>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1734C>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1734C>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1734C>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1734C>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1734C>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030319	rs1231507777	C	T	.	AS_VQSR	AC=2;AN=16838;AF=0.000118779;grpmax=nfe;fafmax_faf95_max=4.41200e-05;fafmax_faf95_max_gen_anc=nfe;AC_XX=0;AF_XX=0.00000;AN_XX=9604;nhomalt_XX=0;AC_XY=2;AF_XY=0.000276472;AN_XY=7234;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=2124;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=1400;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=3524;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=74;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=76;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=150;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=886;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=946;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=1832;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=210;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=174;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=384;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=308;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=350;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=658;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=544;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=798;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1342;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=40;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=34;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=74;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=5032;nhomalt_nfe_XX=0;AC_nfe_XY=2;AF_nfe_XY=0.000673401;AN_nfe_XY=2970;nhomalt_nfe_XY=0;AC_nfe=2;AF_nfe=0.000249938;AN_nfe=8002;nhomalt_nfe=0;AC_raw=16;AF_raw=0.000142015;AN_raw=112664;nhomalt_raw=4;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=134;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=104;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=238;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=252;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=382;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=634;nhomalt_sas=0;AC_grpmax=2;AF_grpmax=0.000249938;AN_grpmax=8002;nhomalt_grpmax=0;faf95=2.06200e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=4.41200e-05;faf95_sas=0.00000;faf99=8.33000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=1.83400e-05;faf99_sas=0.00000;fafmax_faf99_max=1.83400e-05;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|0|0|1|1|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=28.4095;MQRankSum=-0.358000;QUALapprox=10101;QD=15.2123;ReadPosRankSum=0.248000;SOR=1.06500;VarDP=664;AS_FS=.;AS_MQ=29.8332;AS_MQRankSum=-0.358000;AS_pab_max=1.00000;AS_QUALapprox=3331;AS_QD=17.8128;AS_ReadPosRankSum=0.00000;AS_SB_TABLE=279,0|119,0;AS_SOR=0.168623;AS_VarDP=187;inbreeding_coeff=0.499929;AS_culprit=AS_MQ;AS_VQSLOD=-4.45620;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|2;gq_hist_all_bin_freq=0|0|0|0|7035|868|415|58|6|2|1|0|0|0|0|0|0|1|0|3;dp_hist_alt_bin_freq=0|0|1|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|5998|1332|641|334|82|2|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|1|0|0|1|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0978340;cadd_phred=0.838000;phylop=-0.953000;VRS_Allele_IDs=ga4gh:VA.wwPKZLnP0piP_zY0qBwX4HbgS9dUPsEd,ga4gh:VA.deFZ2bCSAmSjlq7ZTkYuhbfzoowU9CeR;VRS_Starts=5030318,5030318;VRS_Ends=5030319,5030319;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1734C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1734C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1734C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1734C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1734C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1734C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1734C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1734C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1734C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030346	rs1390682954	C	T	.	AC0;AS_VQSR	AC=0;AN=22942;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=13024;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=9918;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=2860;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=1892;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=4752;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=94;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=102;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=196;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1170;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1276;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2446;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=324;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=248;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=572;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=388;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=434;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=822;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=706;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1118;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1824;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=50;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=38;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=88;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=6974;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4226;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=11200;nhomalt_nfe=0;AC_raw=2;AF_raw=1.69225e-05;AN_raw=118186;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=162;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=132;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=294;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=296;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=452;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=748;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=29.6643;MQRankSum=-0.720000;QUALapprox=455;QD=12.2973;ReadPosRankSum=0.727000;SOR=0.643000;VarDP=37;AS_FS=.;AS_MQ=29.7686;AS_MQRankSum=0.727000;AS_pab_max=0.753906;AS_QUALapprox=349;AS_QD=11.6333;AS_ReadPosRankSum=0.727000;AS_SB_TABLE=19,0|14,0;AS_SOR=0.446287;AS_VarDP=30;inbreeding_coeff=-1.69228e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.48140;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|9427|1292|641|95|13|2|1|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|7994|1839|956|541|135|6|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0293380;cadd_phred=1.53000;phylop=-0.194000;VRS_Allele_IDs=ga4gh:VA.8JROGmMFl80lewy5CRuglZHZnARCQJoe,ga4gh:VA.xzphiJPAZTu374O4SDEbZ_SmRTATYeG_;VRS_Starts=5030345,5030345;VRS_Ends=5030346,5030346;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1707C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1707C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1707C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1707C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1707C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1707C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1707C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1707C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1707C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030347	rs1394270040	G	A	.	AS_VQSR	AC=11;AN=23330;AF=0.000471496;grpmax=afr;fafmax_faf95_max=0.00126688;fafmax_faf95_max_gen_anc=afr;AC_XX=7;AF_XX=0.000529661;AN_XX=13216;nhomalt_XX=0;AC_XY=4;AF_XY=0.000395491;AN_XY=10114;nhomalt_XY=0;nhomalt=0;AC_afr_XX=7;AF_afr_XX=0.00242382;AN_afr_XX=2888;nhomalt_afr_XX=0;AC_afr_XY=4;AF_afr_XY=0.00202020;AN_afr_XY=1980;nhomalt_afr_XY=0;AC_afr=11;AF_afr=0.00225965;AN_afr=4868;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=94;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=102;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=196;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1186;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1316;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2502;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=338;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=250;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=588;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=378;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=448;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=826;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=718;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1126;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1844;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=44;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=38;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=82;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=7102;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4268;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=11370;nhomalt_nfe=0;AC_raw=68;AF_raw=0.000573830;AN_raw=118502;nhomalt_raw=17;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=172;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=140;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=312;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=296;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=446;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=742;nhomalt_sas=0;AC_grpmax=11;AF_grpmax=0.00225965;AN_grpmax=4868;nhomalt_grpmax=0;faf95=0.000264370;faf95_afr=0.00126688;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.000204240;faf99_afr=0.000979180;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=0.000979180;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=0|0|0|0|1|0|0|0|1|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=29.9052;MQRankSum=0.358000;QUALapprox=10208;QD=17.2142;ReadPosRankSum=0.406000;SOR=1.27800;VarDP=593;AS_FS=.;AS_MQ=29.9616;AS_MQRankSum=0.358000;AS_pab_max=1.00000;AS_QUALapprox=10181;AS_QD=17.5232;AS_ReadPosRankSum=0.466000;AS_SB_TABLE=227,0|364,0;AS_SOR=1.27055;AS_VarDP=581;inbreeding_coeff=0.499713;AS_culprit=AS_MQ;AS_VQSLOD=-3.57070;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|1|0|0|1|0|0|0|0|0|0|0|1|0|0|1|7;gq_hist_all_bin_freq=0|0|0|0|9536|1302|651|100|12|4|1|0|0|0|0|1|0|0|1|7;dp_hist_alt_bin_freq=0|0|10|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|8074|1875|966|554|140|6|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|2|0|1|1|2|0|3|0|0|0|2|0|0|0;cadd_raw_score=0.0385910;cadd_phred=1.59600;phylop=0.492000;VRS_Allele_IDs=ga4gh:VA.tegA-9FkqhMs-wcrpL3Ik7soVAuy16LE,ga4gh:VA.QwiHPljRqwNC9D0rA-DTjKAj4AajGuc1;VRS_Starts=5030346,5030346;VRS_Ends=5030347,5030347;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1706G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1706G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1706G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1706G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1706G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1706G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1706G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1706G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1706G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030349	rs1987111333	C	A	.	AC0;AS_VQSR	AC=0;AN=23720;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=13442;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=10278;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=2938;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=1964;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=4902;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=100;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=108;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=208;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1194;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1320;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2514;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=338;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=254;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=592;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=388;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=462;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=850;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=716;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1162;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1878;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=52;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=34;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=86;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=7236;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4382;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=11618;nhomalt_nfe=0;AC_raw=1;AF_raw=8.40082e-06;AN_raw=119036;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=168;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=132;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=300;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=312;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=460;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=772;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=31.1600;MQRankSum=0.922000;QUALapprox=823;QD=22.8611;ReadPosRankSum=1.06600;SOR=2.71200;VarDP=36;AS_FS=.;AS_MQ=31.1600;AS_MQRankSum=0.922000;AS_pab_max=1.00000;AS_QUALapprox=823;AS_QD=22.8611;AS_ReadPosRankSum=1.06600;AS_SB_TABLE=7,0|29,0;AS_SOR=2.71221;AS_VarDP=36;inbreeding_coeff=-8.40089e-06;AS_culprit=AS_SOR;AS_VQSLOD=-6.34490;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|9709|1326|699|109|12|4|1|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|8227|1929|986|566|146|6|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.00340900;cadd_phred=1.31400;phylop=0.177000;VRS_Allele_IDs=ga4gh:VA.x52OLgbnzfEGUZr8b9BtHEkXFtgrBmtv,ga4gh:VA.zKAPfCnVsIN6dbWBen1bCBow4QQM4Rcc;VRS_Starts=5030348,5030348;VRS_Ends=5030349,5030349;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1704C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1704C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1704C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1704C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1704C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1704C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1704C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1704C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1704C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030356	rs1299624873	G	C	.	AS_VQSR	AC=28;AN=25348;AF=0.00110462;grpmax=afr;fafmax_faf95_max=0.00310872;fafmax_faf95_max_gen_anc=afr;AC_XX=16;AF_XX=0.00111872;AN_XX=14302;nhomalt_XX=0;AC_XY=12;AF_XY=0.00108637;AN_XY=11046;nhomalt_XY=0;nhomalt=0;AC_afr_XX=13;AF_afr_XX=0.00411914;AN_afr_XX=3156;nhomalt_afr_XX=0;AC_afr_XY=11;AF_afr_XY=0.00507849;AN_afr_XY=2166;nhomalt_afr_XY=0;AC_afr=24;AF_afr=0.00450958;AN_afr=5322;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=108;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=122;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=230;nhomalt_ami=0;AC_amr_XX=2;AF_amr_XX=0.00155039;AN_amr_XX=1290;nhomalt_amr_XX=0;AC_amr_XY=1;AF_amr_XY=0.000708215;AN_amr_XY=1412;nhomalt_amr_XY=0;AC_amr=3;AF_amr=0.00111029;AN_amr=2702;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=378;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=268;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=646;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=384;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=466;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=850;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=768;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1248;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2016;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=50;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=38;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=88;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=7666;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4700;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=12366;nhomalt_nfe=0;AC_raw=155;AF_raw=0.00128842;AN_raw=120302;nhomalt_raw=32;AC_remaining_XX=1;AF_remaining_XX=0.00531915;AN_remaining_XX=188;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=150;nhomalt_remaining_XY=0;AC_remaining=1;AF_remaining=0.00295858;AN_remaining=338;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=314;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=476;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=790;nhomalt_sas=0;AC_grpmax=24;AF_grpmax=0.00450958;AN_grpmax=5322;nhomalt_grpmax=0;faf95=0.000784210;faf95_afr=0.00310872;faf95_amr=0.000302000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.000677470;faf99_afr=0.00264624;faf99_amr=0.000160410;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=0.00264624;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=1|1|1|2|0|5|3|2|1|0;age_hist_het_n_smaller=2;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=29.7620;MQRankSum=0.0670000;QUALapprox=43965;QD=25.3255;ReadPosRankSum=0.289000;SOR=1.27100;VarDP=1736;AS_FS=.;AS_MQ=29.7620;AS_MQRankSum=0.0670000;AS_pab_max=1.00000;AS_QUALapprox=43965;AS_QD=25.3255;AS_ReadPosRankSum=0.289000;AS_SB_TABLE=667,0|1069,0;AS_SOR=1.27137;AS_VarDP=1736;inbreeding_coeff=0.412146;AS_culprit=AS_MQ;AS_VQSLOD=-3.95440;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|2|0|0|0|0|0|0|0|0|0|0|0|0|26;gq_hist_all_bin_freq=0|0|0|0|10085|1513|848|124|19|8|1|0|0|0|0|0|0|0|0|26;dp_hist_alt_bin_freq=0|0|25|2|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|8628|2112|1082|630|166|6|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|1|1|2|4|12|1|2|1|0|0|2|1|1|0;cadd_raw_score=-0.00274700;cadd_phred=1.31800;phylop=-0.232000;VRS_Allele_IDs=ga4gh:VA.A8gs_ayxCZ94JM7t2Gnfh8_hpNIXk4-M,ga4gh:VA.4_2Gfm4jHQsgbWMPXPFOchSbTAqJV_mp;VRS_Starts=5030355,5030355;VRS_Ends=5030356,5030356;VRS_States=G,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1697G>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1697G>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1697G>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1697G>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1697G>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1697G>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1697G>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1697G>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1697G>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030357	rs1465976510	A	G	.	AS_VQSR	AC=27;AN=25126;AF=0.00107458;grpmax=afr;fafmax_faf95_max=0.00299298;fafmax_faf95_max_gen_anc=afr;AC_XX=15;AF_XX=0.00105738;AN_XX=14186;nhomalt_XX=0;AC_XY=12;AF_XY=0.00109689;AN_XY=10940;nhomalt_XY=0;nhomalt=0;AC_afr_XX=12;AF_afr_XX=0.00384123;AN_afr_XX=3124;nhomalt_afr_XX=0;AC_afr_XY=11;AF_afr_XY=0.00516917;AN_afr_XY=2128;nhomalt_afr_XY=0;AC_afr=23;AF_afr=0.00437928;AN_afr=5252;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=104;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=122;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=226;nhomalt_ami=0;AC_amr_XX=2;AF_amr_XX=0.00156495;AN_amr_XX=1278;nhomalt_amr_XX=0;AC_amr_XY=1;AF_amr_XY=0.000713267;AN_amr_XY=1402;nhomalt_amr_XY=0;AC_amr=3;AF_amr=0.00111940;AN_amr=2680;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=376;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=264;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=640;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=376;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=462;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=838;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=770;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1224;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1994;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=50;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=36;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=86;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=7608;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4674;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=12282;nhomalt_nfe=0;AC_raw=155;AF_raw=0.00129727;AN_raw=119482;nhomalt_raw=32;AC_remaining_XX=1;AF_remaining_XX=0.00537634;AN_remaining_XX=186;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=150;nhomalt_remaining_XY=0;AC_remaining=1;AF_remaining=0.00297619;AN_remaining=336;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=314;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=478;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=792;nhomalt_sas=0;AC_grpmax=23;AF_grpmax=0.00437928;AN_grpmax=5252;nhomalt_grpmax=0;faf95=0.000758290;faf95_afr=0.00299298;faf95_amr=0.000304450;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.000651670;faf99_afr=0.00253736;faf99_amr=0.000161710;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=0.00253736;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=1|1|1|2|0|4|3|2|1|0;age_hist_het_n_smaller=2;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=29.8131;MQRankSum=0.103000;QUALapprox=44025;QD=24.7889;ReadPosRankSum=0.0770000;SOR=1.28300;VarDP=1776;AS_FS=.;AS_MQ=29.8126;AS_MQRankSum=0.103000;AS_pab_max=1.00000;AS_QUALapprox=43965;AS_QD=24.9801;AS_ReadPosRankSum=0.103000;AS_SB_TABLE=679,0|1093,0;AS_SOR=1.27768;AS_VarDP=1760;inbreeding_coeff=0.412141;AS_culprit=AS_MQ;AS_VQSLOD=-4.01590;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|2|0|0|0|0|0|0|0|0|0|0|0|0|25;gq_hist_all_bin_freq=0|0|0|0|10046|1467|824|120|20|9|1|0|0|0|0|0|0|0|0|25;dp_hist_alt_bin_freq=0|0|24|2|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|8496|2120|1085|636|169|6|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|1|2|5|10|2|2|1|0|0|2|1|1|0;cadd_raw_score=0.184269;cadd_phred=2.94600;phylop=-0.412000;VRS_Allele_IDs=ga4gh:VA.a2ndiZ-wHsegBGhlSWNX8SA-WohovSK3,ga4gh:VA.tjgsuwWtmEZQY39KDFEITa5U713ODMVC;VRS_Starts=5030356,5030356;VRS_Ends=5030357,5030357;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1696A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1696A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1696A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1696A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1696A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1696A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1696A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1696A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1696A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030359	.	T	A	.	AS_VQSR	AC=1;AN=22770;AF=4.39174e-05;grpmax=nfe;AC_XX=0;AF_XX=0.00000;AN_XX=12892;nhomalt_XX=0;AC_XY=1;AF_XY=0.000101235;AN_XY=9878;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=2794;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=1870;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=4664;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=102;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=112;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=214;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1144;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1252;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2396;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=332;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=228;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=560;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=338;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=408;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=746;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=712;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1106;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1818;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=48;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=28;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=76;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=6964;nhomalt_nfe_XX=0;AC_nfe_XY=1;AF_nfe_XY=0.000232666;AN_nfe_XY=4298;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=8.87942e-05;AN_nfe=11262;nhomalt_nfe=0;AC_raw=3;AF_raw=2.66780e-05;AN_raw=112452;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=158;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=126;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=284;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=300;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=450;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=750;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=8.87942e-05;AN_grpmax=11262;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=28.9461;MQRankSum=0.00000;QUALapprox=684;QD=4.32911;ReadPosRankSum=0.0670000;SOR=0.119000;VarDP=158;AS_FS=.;AS_MQ=27.4570;AS_MQRankSum=0.358000;AS_pab_max=1.00000;AS_QUALapprox=130;AS_QD=3.82353;AS_ReadPosRankSum=-0.967000;AS_SB_TABLE=117,0|9,0;AS_SOR=0.00715618;AS_VarDP=34;inbreeding_coeff=-2.66788e-05;AS_culprit=AS_MQ;AS_VQSLOD=-5.36320;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|9452|1216|613|87|13|2|1|1|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|7349|2092|1106|659|173|6|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0707380;cadd_phred=0.954000;phylop=-2.90000;VRS_Allele_IDs=ga4gh:VA.Gs-DWsAVpRdjewXjDfU6L0Mv5zUNZvBD,ga4gh:VA.adWjYV0OdmZCUJSV91FkCC7wJlf7p2wy;VRS_Starts=5030358,5030358;VRS_Ends=5030359,5030359;VRS_States=T,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1694T>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1694T>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1694T>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1694T>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1694T>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1694T>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1694T>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1694T>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1694T>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030359	.	T	G	.	AS_VQSR	AC=1;AN=22770;AF=4.39174e-05;grpmax=nfe;AC_XX=1;AF_XX=7.75675e-05;AN_XX=12892;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=9878;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=2794;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=1870;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=4664;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=102;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=112;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=214;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1144;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1252;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2396;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=332;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=228;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=560;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=338;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=408;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=746;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=712;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1106;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1818;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=48;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=28;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=76;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=0.000143596;AN_nfe_XX=6964;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4298;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=8.87942e-05;AN_nfe=11262;nhomalt_nfe=0;AC_raw=7;AF_raw=6.22488e-05;AN_raw=112452;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=158;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=126;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=284;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=300;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=450;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=750;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=8.87942e-05;AN_grpmax=11262;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=28.9461;MQRankSum=0.00000;QUALapprox=684;QD=4.32911;ReadPosRankSum=0.0670000;SOR=0.119000;VarDP=158;AS_FS=.;AS_MQ=29.2662;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=512;AS_QD=4.33898;AS_ReadPosRankSum=0.0670000;AS_SB_TABLE=117,0|30,0;AS_SOR=0.0667400;AS_VarDP=118;inbreeding_coeff=-6.22527e-05;AS_culprit=AS_MQ;AS_VQSLOD=-4.09960;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|9452|1216|613|87|13|2|1|1|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|7349|2092|1106|659|173|6|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0537300;cadd_phred=1.03400;phylop=-2.90000;VRS_Allele_IDs=ga4gh:VA.Gs-DWsAVpRdjewXjDfU6L0Mv5zUNZvBD,ga4gh:VA.mitgkd4MGdWoIw16f-BPJPThDT5wBIAs;VRS_Starts=5030358,5030358;VRS_Ends=5030359,5030359;VRS_States=T,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1694T>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1694T>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1694T>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1694T>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1694T>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1694T>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1694T>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1694T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1694T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030366	.	T	G	.	AC0;AS_VQSR	AC=0;AN=25014;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=14034;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=10980;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=2986;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2130;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=5116;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=112;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=124;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=236;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1242;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1424;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2666;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=376;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=268;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=644;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=378;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=436;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=814;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=726;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1216;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1942;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=46;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=30;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=76;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=7700;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4768;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=12468;nhomalt_nfe=0;AC_raw=4;AF_raw=3.50177e-05;AN_raw=114228;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=150;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=130;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=280;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=318;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=454;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=772;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=30.2203;MQRankSum=0.406000;QUALapprox=410;QD=5.85714;ReadPosRankSum=0.00000;SOR=0.223000;VarDP=70;AS_FS=.;AS_MQ=31.0544;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=313;AS_QD=5.90566;AS_ReadPosRankSum=0.248000;AS_SB_TABLE=47,0|17,0;AS_SOR=0.131576;AS_VarDP=53;inbreeding_coeff=-3.50189e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.68660;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|10168|1481|745|89|16|7|1|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|7861|2341|1301|797|200|7|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.138513;cadd_phred=2.45800;phylop=0.268000;VRS_Allele_IDs=ga4gh:VA.ca5a-bOii-F6jPYMKGUHw-hthzhyRoa2,ga4gh:VA.Yg9L0Hk6bNTmX4DzC1Wm8IlTLgx0XjX9;VRS_Starts=5030365,5030365;VRS_Ends=5030366,5030366;VRS_States=T,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1687T>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1687T>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1687T>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1687T>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1687T>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1687T>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1687T>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1687T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1687T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030370	rs1393241495	T	G	.	AS_VQSR	AC=1;AN=29154;AF=3.43006e-05;grpmax=afr;AC_XX=0;AF_XX=0.00000;AN_XX=16346;nhomalt_XX=0;AC_XY=1;AF_XY=7.80762e-05;AN_XY=12808;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=3562;nhomalt_afr_XX=0;AC_afr_XY=1;AF_afr_XY=0.000392773;AN_afr_XY=2546;nhomalt_afr_XY=0;AC_afr=1;AF_afr=0.000163720;AN_afr=6108;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=124;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=134;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=258;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1434;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1620;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=3054;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=448;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=334;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=782;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=402;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=480;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=882;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=838;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1474;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2312;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=50;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=34;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=84;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8980;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=5516;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=14496;nhomalt_nfe=0;AC_raw=1;AF_raw=8.23628e-06;AN_raw=121414;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=176;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=158;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=334;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=332;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=512;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=844;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000163720;AN_grpmax=6108;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|1|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=31.5753;MQRankSum=1.67000;QUALapprox=97;QD=7.46154;ReadPosRankSum=0.437000;SOR=0.368000;VarDP=13;AS_FS=.;AS_MQ=31.5753;AS_MQRankSum=1.67000;AS_pab_max=0.581055;AS_QUALapprox=97;AS_QD=7.46154;AS_ReadPosRankSum=0.437000;AS_SB_TABLE=8,0|5,0;AS_SOR=0.367725;AS_VarDP=13;inbreeding_coeff=-8.23635e-06;AS_culprit=AS_MQ;AS_VQSLOD=-3.21300;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|11383|1963|1040|149|30|9|2|0|0|0|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9257|2652|1487|932|241|8|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0142730;cadd_phred=1.24800;phylop=-0.480000;VRS_Allele_IDs=ga4gh:VA.LuLVXTyZBn9_cPe16xIK4gVXVpqFlANU,ga4gh:VA.7qopsqYpFhgi2cwjERos2JXng50HxG57;VRS_Starts=5030369,5030369;VRS_Ends=5030370,5030370;VRS_States=T,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1683T>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1683T>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1683T>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1683T>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1683T>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1683T>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1683T>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1683T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1683T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030371	rs1162418527	G	A	.	AS_VQSR	AC=3;AN=29856;AF=0.000100482;grpmax=nfe;fafmax_faf95_max=5.43300e-05;fafmax_faf95_max_gen_anc=nfe;AC_XX=1;AF_XX=5.98587e-05;AN_XX=16706;nhomalt_XX=0;AC_XY=2;AF_XY=0.000152091;AN_XY=13150;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=3664;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2604;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=6268;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=122;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=134;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=256;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1468;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1654;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=3122;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=458;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=346;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=804;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=408;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=484;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=892;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=844;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1522;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2366;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=52;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=34;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=86;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=0.000109027;AN_nfe_XX=9172;nhomalt_nfe_XX=0;AC_nfe_XY=2;AF_nfe_XY=0.000351741;AN_nfe_XY=5686;nhomalt_nfe_XY=0;AC_nfe=3;AF_nfe=0.000201911;AN_nfe=14858;nhomalt_nfe=0;AC_raw=24;AF_raw=0.000195906;AN_raw=122508;nhomalt_raw=3;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=176;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=166;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=342;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=342;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=520;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=862;nhomalt_sas=0;AC_grpmax=3;AF_grpmax=0.000201911;AN_grpmax=14858;nhomalt_grpmax=0;faf95=2.66200e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=5.43300e-05;faf95_sas=0.00000;faf99=1.43700e-05;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=2.87600e-05;faf99_sas=0.00000;fafmax_faf99_max=2.87600e-05;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|1|0|0|0|0|1|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=28.9191;MQRankSum=-0.684000;QUALapprox=3110;QD=11.0284;ReadPosRankSum=0.198000;SOR=0.492000;VarDP=282;AS_FS=.;AS_MQ=28.7964;AS_MQRankSum=-0.625000;AS_pab_max=1.00000;AS_QUALapprox=3079;AS_QD=11.1558;AS_ReadPosRankSum=0.296000;AS_SB_TABLE=157,0|123,0;AS_SOR=0.479909;AS_VarDP=276;inbreeding_coeff=0.249853;AS_culprit=AS_MQ;AS_VQSLOD=-3.73980;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|2;gq_hist_all_bin_freq=0|0|0|0|11577|2045|1104|158|31|9|2|0|0|0|0|0|0|0|0|2;dp_hist_alt_bin_freq=0|0|2|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9498|2710|1518|953|241|8|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|0|0|0|0|1|0|0|1|0|0|0|0|0|0|0;cadd_raw_score=0.0492540;cadd_phred=1.67400;phylop=0.550000;VRS_Allele_IDs=ga4gh:VA.n-MyaEkny-SKuCq9QzIXrNN6mYK7SAlg,ga4gh:VA.IB_RYp8W2VNN2vP3XtvP2G_SgGG_mMym;VRS_Starts=5030370,5030370;VRS_Ends=5030371,5030371;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1682G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1682G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1682G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1682G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1682G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1682G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1682G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1682G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1682G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030372	rs1987111548	C	T	.	AC0;AS_VQSR	AC=0;AN=29994;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=16782;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=13212;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=3694;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2642;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=6336;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=128;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=132;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=260;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1470;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1664;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=3134;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=464;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=346;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=810;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=410;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=480;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=890;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=852;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1512;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2364;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=50;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=34;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=84;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=9188;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=5708;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=14896;nhomalt_nfe=0;AC_raw=1;AF_raw=8.20035e-06;AN_raw=121946;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=180;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=168;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=348;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=346;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=526;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=872;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=29.2923;MQRankSum=0.529000;QUALapprox=349;QD=13.9600;ReadPosRankSum=0.684000;SOR=0.770000;VarDP=25;AS_FS=.;AS_MQ=29.2923;AS_MQRankSum=0.529000;AS_pab_max=1.00000;AS_QUALapprox=349;AS_QD=13.9600;AS_ReadPosRankSum=0.684000;AS_SB_TABLE=12,0|13,0;AS_SOR=0.769999;AS_VarDP=25;inbreeding_coeff=-8.20042e-06;AS_culprit=AS_MQ;AS_VQSLOD=-3.44450;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|11664|2043|1098|152|29|9|2|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9510|2733|1533|969|244|8|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0628530;cadd_phred=1.77900;phylop=-0.139000;VRS_Allele_IDs=ga4gh:VA.YCbYc1AGt3cNdoKktVZUHrnTTkjG5Hk_,ga4gh:VA.d_2rfGHHbp9G3BotyljEzjXVRJZh6D6V;VRS_Starts=5030371,5030371;VRS_Ends=5030372,5030372;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1681C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1681C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1681C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1681C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1681C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1681C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1681C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1681C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1681C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030376	rs1475898376	T	C	.	AC0;AS_VQSR	AC=0;AN=30956;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=17344;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=13612;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=3812;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2698;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=6510;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=130;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=142;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=272;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1522;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1734;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=3256;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=486;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=352;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=838;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=412;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=488;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=900;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=850;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1580;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2430;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=48;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=34;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=82;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=9560;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=5868;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=15428;nhomalt_nfe=0;AC_raw=1;AF_raw=8.13749e-06;AN_raw=122888;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=184;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=180;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=364;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=340;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=536;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=876;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=32.4846;MQRankSum=1.79100;QUALapprox=493;QD=17.6071;ReadPosRankSum=1.53700;SOR=1.38200;VarDP=28;AS_FS=.;AS_MQ=32.4846;AS_MQRankSum=1.79100;AS_pab_max=1.00000;AS_QUALapprox=493;AS_QD=17.6071;AS_ReadPosRankSum=1.53700;AS_SB_TABLE=10,0|18,0;AS_SOR=1.38215;AS_VarDP=28;inbreeding_coeff=-8.13756e-06;AS_culprit=AS_MQ;AS_VQSLOD=-3.01400;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|12019|2137|1129|153|31|8|1|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9734|2847|1615|1020|254|8|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.214176;cadd_phred=3.28600;phylop=-7.45100;VRS_Allele_IDs=ga4gh:VA.w9tOSaR9zOCke7KQQro57uKWP53-cL5L,ga4gh:VA.Gy4dpUptqSYqH1BtcR1IKhQ7yuvxIzOs;VRS_Starts=5030375,5030375;VRS_Ends=5030376,5030376;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1677T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1677T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1677T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1677T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1677T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1677T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1677T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1677T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1677T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030382	rs1368469555	C	T	.	AC0;AS_VQSR	AC=0;AN=32394;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=18066;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=14328;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=3982;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2822;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=6804;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=140;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=154;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=294;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1580;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1824;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=3404;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=504;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=380;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=884;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=418;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=498;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=916;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=858;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1648;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2506;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=54;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=30;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=84;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=9994;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=6214;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=16208;nhomalt_nfe=0;AC_raw=1;AF_raw=8.09022e-06;AN_raw=123606;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=194;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=184;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=378;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=342;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=574;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=916;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=27.0000;MQRankSum=0.736000;QUALapprox=193;QD=19.3000;ReadPosRankSum=-0.736000;SOR=1.60900;VarDP=10;AS_FS=.;AS_MQ=27.0000;AS_MQRankSum=0.736000;AS_pab_max=1.00000;AS_QUALapprox=193;AS_QD=19.3000;AS_ReadPosRankSum=-0.736000;AS_SB_TABLE=3,0|7,0;AS_SOR=1.60944;AS_VarDP=10;inbreeding_coeff=-8.09029e-06;AS_culprit=AS_MQ;AS_VQSLOD=-5.45630;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|12535|2254|1194|174|33|6|1|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10089|3023|1721|1079|276|9|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0783940;cadd_phred=1.90500;phylop=-1.20700;VRS_Allele_IDs=ga4gh:VA.rdpERNjJ-nZl11pgCrAm-_wDdwNi3lrZ,ga4gh:VA.7hzGb4CSvhvjVIeLpb8RGXNoSP_3U1mS;VRS_Starts=5030381,5030381;VRS_Ends=5030382,5030382;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1671C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1671C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1671C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1671C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1671C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1671C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1671C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1671C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1671C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030391	rs1418955113	C	T	.	AS_VQSR	AC=18;AN=34778;AF=0.000517569;grpmax=afr;fafmax_faf95_max=0.00147349;fafmax_faf95_max_gen_anc=afr;AC_XX=12;AF_XX=0.000624285;AN_XX=19222;nhomalt_XX=0;AC_XY=6;AF_XY=0.000385703;AN_XY=15556;nhomalt_XY=0;nhomalt=0;AC_afr_XX=11;AF_afr_XX=0.00257974;AN_afr_XX=4264;nhomalt_afr_XX=0;AC_afr_XY=6;AF_afr_XY=0.00194426;AN_afr_XY=3086;nhomalt_afr_XY=0;AC_afr=17;AF_afr=0.00231293;AN_afr=7350;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=146;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=164;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=310;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1668;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1978;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=3646;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=524;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=422;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=946;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=422;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=520;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=942;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=876;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1750;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2626;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=52;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=40;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=92;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=10718;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=6780;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=17498;nhomalt_nfe=0;AC_raw=73;AF_raw=0.000585903;AN_raw=124594;nhomalt_raw=15;AC_remaining_XX=1;AF_remaining_XX=0.00462963;AN_remaining_XX=216;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=208;nhomalt_remaining_XY=0;AC_remaining=1;AF_remaining=0.00235849;AN_remaining=424;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=336;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=608;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=944;nhomalt_sas=0;AC_grpmax=17;AF_grpmax=0.00231293;AN_grpmax=7350;nhomalt_grpmax=0;faf95=0.000333790;faf95_afr=0.00147349;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.000275940;faf99_afr=0.00120977;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=0.00120977;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=1|1|1|1|0|0|1|2|1|0;age_hist_het_n_smaller=3;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=29.8503;MQRankSum=0.143000;QUALapprox=13545;QD=16.6196;ReadPosRankSum=0.143000;SOR=1.24200;VarDP=815;AS_FS=.;AS_MQ=29.8503;AS_MQRankSum=0.143000;AS_pab_max=1.00000;AS_QUALapprox=13545;AS_QD=16.6196;AS_ReadPosRankSum=0.143000;AS_SB_TABLE=317,0|498,0;AS_SOR=1.24194;AS_VarDP=815;inbreeding_coeff=0.410614;AS_culprit=AS_MQ;AS_VQSLOD=-3.67440;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|1|0|0|0|1|1|1|1|0|0|0|0|1|12;gq_hist_all_bin_freq=0|0|0|0|13211|2492|1360|213|29|9|2|1|1|1|0|0|0|0|1|12;dp_hist_alt_bin_freq=0|0|13|5|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10509|3319|1973|1213|307|11|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|0|2|0|4|1|5|2|0|0|1|0|2|0|0|0;cadd_raw_score=0.0828200;cadd_phred=1.94200;phylop=1.35000;VRS_Allele_IDs=ga4gh:VA.15u0rR9Ip7t6tZGwC7FLsA7c_I23--82,ga4gh:VA.o8bgKMhjSYgGgxM-1APs3bbIWi66QAmU;VRS_Starts=5030390,5030390;VRS_Ends=5030391,5030391;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1662C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1662C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1662C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1662C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1662C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1662C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1662C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1662C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1662C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030393	.	T	G	.	AC0;AS_VQSR	AC=0;AN=33826;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=18794;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=15032;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=4114;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2926;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=7040;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=142;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=160;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=302;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1630;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1932;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=3562;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=512;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=404;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=916;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=416;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=504;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=920;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=828;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1688;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2516;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=56;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=36;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=92;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=10572;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=6616;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=17188;nhomalt_nfe=0;AC_raw=2;AF_raw=1.64384e-05;AN_raw=121666;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=204;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=194;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=398;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=320;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=572;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=892;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=29.3198;MQRankSum=-0.198000;QUALapprox=125;QD=6.25000;ReadPosRankSum=-1.06700;SOR=0.197000;VarDP=20;AS_FS=.;AS_MQ=29.3198;AS_MQRankSum=-0.198000;AS_pab_max=1.00000;AS_QUALapprox=125;AS_QD=6.25000;AS_ReadPosRankSum=-1.06700;AS_SB_TABLE=14,0|6,0;AS_SOR=0.197028;AS_VarDP=20;inbreeding_coeff=-1.64387e-05;AS_culprit=AS_MQ;AS_VQSLOD=-4.90870;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|13076|2362|1228|212|27|8|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9935|3364|2041|1241|319|13|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.170162;cadd_phred=2.79000;phylop=-0.494000;VRS_Allele_IDs=ga4gh:VA.LOpCQxYCyYBLsFNTYN11X2RGrMTvyAlh,ga4gh:VA.dNq6EFIQQ3knUvlN8Rg-eUThnLAmcV8u;VRS_Starts=5030392,5030392;VRS_Ends=5030393,5030393;VRS_States=T,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1660T>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1660T>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1660T>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1660T>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1660T>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1660T>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1660T>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1660T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1660T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030400	rs1249073625	G	A	.	AC0;AS_VQSR	AC=0;AN=38278;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=21122;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=17156;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=4676;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=3376;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=8052;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=172;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=186;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=358;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1808;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2126;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=3934;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=582;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=452;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1034;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=460;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=544;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1004;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=940;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1960;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2900;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=58;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=42;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=100;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=11864;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=7606;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=19470;nhomalt_nfe=0;AC_raw=5;AF_raw=3.97109e-05;AN_raw=125910;nhomalt_raw=2;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=220;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=220;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=440;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=342;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=644;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=986;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=30.5605;MQRankSum=0.00000;QUALapprox=437;QD=25.7059;ReadPosRankSum=0.720000;SOR=3.38300;VarDP=17;AS_FS=.;AS_MQ=30.5605;AS_MQRankSum=0.00000;AS_pab_max=0.687500;AS_QUALapprox=437;AS_QD=25.7059;AS_ReadPosRankSum=0.720000;AS_SB_TABLE=2,0|15,0;AS_SOR=3.38251;AS_VarDP=17;inbreeding_coeff=0.799992;AS_culprit=AS_SOR;AS_VQSLOD=-9.20950;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|14318|2864|1663|247|33|14|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|11241|3749|2332|1431|369|17|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0353810;cadd_phred=1.57300;phylop=1.92300;VRS_Allele_IDs=ga4gh:VA.pWsHCGLpkrx3O34NC1X8q2gyBxnqv9H6,ga4gh:VA.PAqr4hayS0SZhiucJrtUsyLU7vHPFPLx;VRS_Starts=5030399,5030399;VRS_Ends=5030400,5030400;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1653G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1653G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1653G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1653G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1653G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1653G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1653G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1653G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1653G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030401	rs1987112126	T	G	.	AS_VQSR	AC=1;AN=35752;AF=2.79705e-05;grpmax=nfe;AC_XX=1;AF_XX=5.07202e-05;AN_XX=19716;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=16036;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=4288;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=3046;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=7334;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=164;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=182;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=346;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1710;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2006;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=3716;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=540;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=424;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=964;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=430;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=504;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=934;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=866;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1816;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2682;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=52;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=34;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=86;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=8.98473e-05;AN_nfe_XX=11130;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=7208;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=5.45316e-05;AN_nfe=18338;nhomalt_nfe=0;AC_raw=2;AF_raw=1.65248e-05;AN_raw=121030;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=214;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=206;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=420;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=322;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=610;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=932;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=5.45316e-05;AN_grpmax=18338;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=27.4994;MQRankSum=-0.922000;QUALapprox=138;QD=4.31250;ReadPosRankSum=0.804000;SOR=0.206000;VarDP=32;AS_FS=.;AS_MQ=27.5324;AS_MQRankSum=-0.922000;AS_pab_max=1.00000;AS_QUALapprox=119;AS_QD=3.96667;AS_ReadPosRankSum=1.02600;AS_SB_TABLE=22,0|9,0;AS_SOR=0.173143;AS_VarDP=30;inbreeding_coeff=-1.65251e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.67270;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|13808|2582|1279|176|26|5|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10015|3690|2343|1438|373|17|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.142020;cadd_phred=2.49300;phylop=-3.61100;VRS_Allele_IDs=ga4gh:VA.LGyoy--hCB_c2RwJThAIBH9n0AgJh6o9,ga4gh:VA.s9k9O_z6Bvdbe4yjG5TRpr3_WAveGWey;VRS_Starts=5030400,5030400;VRS_Ends=5030401,5030401;VRS_States=T,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1652T>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1652T>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1652T>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1652T>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1652T>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1652T>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1652T>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1652T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1652T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030420	rs1200876847	G	A	.	AS_VQSR	AC=2;AN=45082;AF=4.43636e-05;grpmax=nfe;fafmax_faf95_max=1.53200e-05;fafmax_faf95_max_gen_anc=nfe;AC_XX=1;AF_XX=4.06273e-05;AN_XX=24614;nhomalt_XX=0;AC_XY=1;AF_XY=4.88568e-05;AN_XY=20468;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5594;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4058;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9652;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=200;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=216;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=416;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2080;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2522;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=4602;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=662;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=522;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1184;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=490;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=566;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1056;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1006;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2324;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=3330;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=60;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=46;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=106;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=7.20254e-05;AN_nfe_XX=13884;nhomalt_nfe_XX=0;AC_nfe_XY=1;AF_nfe_XY=0.000108578;AN_nfe_XY=9210;nhomalt_nfe_XY=0;AC_nfe=2;AF_nfe=8.66026e-05;AN_nfe=23094;nhomalt_nfe=0;AC_raw=2;AF_raw=1.56357e-05;AN_raw=127912;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=262;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=232;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=494;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=376;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=772;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1148;nhomalt_sas=0;AC_grpmax=2;AF_grpmax=8.66026e-05;AN_grpmax=23094;nhomalt_grpmax=0;faf95=7.35000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=1.53200e-05;faf95_sas=0.00000;faf99=2.75000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=6.35000e-06;faf99_sas=0.00000;fafmax_faf99_max=6.35000e-06;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|1|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=31.1769;MQRankSum=0.163000;QUALapprox=835;QD=12.6515;ReadPosRankSum=0.0590000;SOR=0.693000;VarDP=66;AS_FS=.;AS_MQ=31.1769;AS_MQRankSum=0.163000;AS_pab_max=0.607239;AS_QUALapprox=835;AS_QD=12.6515;AS_ReadPosRankSum=0.0590000;AS_SB_TABLE=33,0|33,0;AS_SOR=0.693147;AS_VarDP=66;inbreeding_coeff=-1.56360e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.36440;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|1;gq_hist_all_bin_freq=0|0|0|0|16736|3559|1879|283|56|21|4|0|1|0|0|0|0|1|0|1;dp_hist_alt_bin_freq=0|0|0|2|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|12067|4849|3163|1948|492|20|1|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|1|0|1|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.105884;cadd_phred=2.14400;phylop=-0.789000;VRS_Allele_IDs=ga4gh:VA.fZdQNz-_2rVPckNnjHj7MwxRW337xpld,ga4gh:VA.GTxq2Nq8sYkXgT1x_E7Im2KHQxZrTUJ0;VRS_Starts=5030419,5030419;VRS_Ends=5030420,5030420;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1633G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1633G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1633G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1633G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1633G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1633G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1633G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1633G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1633G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030423	rs1458530042	G	A	.	AS_VQSR	AC=7;AN=46030;AF=0.000152075;grpmax=amr;fafmax_faf95_max=0.000697920;fafmax_faf95_max_gen_anc=amr;AC_XX=2;AF_XX=7.98339e-05;AN_XX=25052;nhomalt_XX=0;AC_XY=5;AF_XY=0.000238345;AN_XY=20978;nhomalt_XY=1;nhomalt=1;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5692;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4170;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9862;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=200;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=214;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=414;nhomalt_ami=0;AC_amr_XX=2;AF_amr_XX=0.000944287;AN_amr_XX=2118;nhomalt_amr_XX=0;AC_amr_XY=5;AF_amr_XY=0.00193199;AN_amr_XY=2588;nhomalt_amr_XY=1;AC_amr=7;AF_amr=0.00148746;AN_amr=4706;nhomalt_amr=1;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=680;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=540;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1220;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=498;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=586;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1084;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1018;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2358;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=3376;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=60;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=42;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=102;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=14138;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=9452;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=23590;nhomalt_nfe=0;AC_raw=33;AF_raw=0.000258184;AN_raw=127816;nhomalt_raw=6;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=272;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=248;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=520;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=376;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=780;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1156;nhomalt_sas=0;AC_grpmax=7;AF_grpmax=0.00148746;AN_grpmax=4706;nhomalt_grpmax=1;faf95=7.09700e-05;faf95_afr=0.00000;faf95_amr=0.000697920;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=5.04200e-05;faf99_afr=0.00000;faf99_amr=0.000495080;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=0.000495080;fafmax_faf99_max_gen_anc=amr;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=30.1958;MQRankSum=0.248000;QUALapprox=3940;QD=16.2810;ReadPosRankSum=0.322000;SOR=1.19300;VarDP=242;AS_FS=.;AS_MQ=30.1958;AS_MQRankSum=0.248000;AS_pab_max=1.00000;AS_QUALapprox=3940;AS_QD=16.2810;AS_ReadPosRankSum=0.322000;AS_SB_TABLE=96,0|146,0;AS_SOR=1.19290;AS_VarDP=242;inbreeding_coeff=0.363472;AS_culprit=AS_MQ;AS_VQSLOD=-3.49450;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|1|0|0|0|1|0|0|0|0|0|0|0|0|4;gq_hist_all_bin_freq=0|0|0|0|17108|3615|1882|318|59|26|2|1|0|0|0|0|0|0|0|4;dp_hist_alt_bin_freq=0|0|4|2|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|12040|5024|3339|2057|532|20|1|1|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|1|0|1|0|2|0|0|1|0|0|0|0;cadd_raw_score=0.107447;cadd_phred=2.15800;phylop=-1.95300;VRS_Allele_IDs=ga4gh:VA.DLBUhEOK5UKx7veqC0pc5F32okXle8Jo,ga4gh:VA.MRwHqGL2Bdt-I4Nb2BX8mlbTutzJhLiv;VRS_Starts=5030422,5030422;VRS_Ends=5030423,5030423;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1630G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1630G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1630G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1630G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1630G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1630G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1630G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1630G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1630G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030446	rs1358744856	C	G	.	AS_VQSR	AC=337;AN=51420;AF=0.00655387;grpmax=nfe;fafmax_faf95_max=0.00795797;fafmax_faf95_max_gen_anc=nfe;AC_XX=181;AF_XX=0.00653477;AN_XX=27698;nhomalt_XX=18;AC_XY=156;AF_XY=0.00657617;AN_XY=23722;nhomalt_XY=14;nhomalt=32;AC_afr_XX=11;AF_afr_XX=0.00175159;AN_afr_XX=6280;nhomalt_afr_XX=2;AC_afr_XY=5;AF_afr_XY=0.00104254;AN_afr_XY=4796;nhomalt_afr_XY=1;AC_afr=16;AF_afr=0.00144456;AN_afr=11076;nhomalt_afr=3;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=210;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=244;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=454;nhomalt_ami=0;AC_amr_XX=8;AF_amr_XX=0.00334448;AN_amr_XX=2392;nhomalt_amr_XX=0;AC_amr_XY=12;AF_amr_XY=0.00414365;AN_amr_XY=2896;nhomalt_amr_XY=0;AC_amr=20;AF_amr=0.00378215;AN_amr=5288;nhomalt_amr=0;AC_asj_XX=30;AF_asj_XX=0.0397878;AN_asj_XX=754;nhomalt_asj_XX=4;AC_asj_XY=26;AF_asj_XY=0.0446735;AN_asj_XY=582;nhomalt_asj_XY=1;AC_asj=56;AF_asj=0.0419162;AN_asj=1336;nhomalt_asj=5;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=560;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=660;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1220;nhomalt_eas=0;AC_fin_XX=3;AF_fin_XX=0.00281955;AN_fin_XX=1064;nhomalt_fin_XX=0;AC_fin_XY=1;AF_fin_XY=0.000387898;AN_fin_XY=2578;nhomalt_fin_XY=0;AC_fin=4;AF_fin=0.00109830;AN_fin=3642;nhomalt_fin=0;AC_mid_XX=1;AF_mid_XX=0.0200000;AN_mid_XX=50;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=42;nhomalt_mid_XY=0;AC_mid=1;AF_mid=0.0108696;AN_mid=92;nhomalt_mid=0;AC_nfe_XX=127;AF_nfe_XX=0.00810776;AN_nfe_XX=15664;nhomalt_nfe_XX=12;AC_nfe_XY=108;AF_nfe_XY=0.0100297;AN_nfe_XY=10768;nhomalt_nfe_XY=12;AC_nfe=235;AF_nfe=0.00889074;AN_nfe=26432;nhomalt_nfe=24;AC_raw=872;AF_raw=0.00679837;AN_raw=128266;nhomalt_raw=225;AC_remaining_XX=1;AF_remaining_XX=0.00301205;AN_remaining_XX=332;nhomalt_remaining_XX=0;AC_remaining_XY=3;AF_remaining_XY=0.0107143;AN_remaining_XY=280;nhomalt_remaining_XY=0;AC_remaining=4;AF_remaining=0.00653595;AN_remaining=612;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=392;nhomalt_sas_XX=0;AC_sas_XY=1;AF_sas_XY=0.00114155;AN_sas_XY=876;nhomalt_sas_XY=0;AC_sas=1;AF_sas=0.000788644;AN_sas=1268;nhomalt_sas=0;AC_grpmax=235;AF_grpmax=0.00889074;AN_grpmax=26432;nhomalt_grpmax=24;faf95=0.00597707;faf95_afr=0.000906000;faf95_amr=0.00250563;faf95_eas=0.00000;faf95_nfe=0.00795797;faf95_sas=0.00000;faf99=0.00575176;faf99_afr=0.000738310;faf99_amr=0.00209480;faf99_eas=0.00000;faf99_nfe=0.00759729;faf99_sas=0.00000;fafmax_faf99_max=0.00759729;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=3|4|5|10|21|26|9|8|10|5;age_hist_het_n_smaller=7;age_hist_het_n_larger=1;age_hist_hom_bin_freq=0|0|0|0|0|2|2|2|0|3;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=1;FS=.;MQ=30.4126;MQRankSum=0.00000;QUALapprox=268695;QD=17.4932;ReadPosRankSum=0.146000;SOR=1.54000;VarDP=15360;AS_FS=.;AS_MQ=30.4126;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=268695;AS_QD=17.4932;AS_ReadPosRankSum=0.156000;AS_SB_TABLE=5270,0|10090,0;AS_SOR=1.54010;AS_VarDP=15360;inbreeding_coeff=0.512742;AS_culprit=AS_MQ;AS_VQSLOD=-3.80270;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|2|2|32|6|4|6|4|6|11|7|2|5|3|12|19|185;gq_hist_all_bin_freq=0|0|0|0|19317|3943|1742|305|67|26|7|6|11|7|2|5|3|12|19|185;dp_hist_alt_bin_freq=0|0|198|83|22|3|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|12053|6186|4138|2585|665|27|1|1|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|3|9|14|20|29|25|49|20|45|24|10|12|13|1|0|0;cadd_raw_score=0.128693;cadd_phred=2.36000;phylop=1.38300;VRS_Allele_IDs=ga4gh:VA.gbhrjBcWmjyPN_IYKm8OScmTfb64yvSt,ga4gh:VA.R8zfMspta1UDrcFDYJAhHLKrOup7G6-p;VRS_Starts=5030445,5030445;VRS_Ends=5030446,5030446;VRS_States=C,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1607C>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1607C>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1607C>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1607C>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1607C>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1607C>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1607C>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1607C>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1607C>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030447	rs1284799393	T	C	.	AS_VQSR	AC=1;AN=51850;AF=1.92864e-05;grpmax=nfe;AC_XX=1;AF_XX=3.58064e-05;AN_XX=27928;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=23922;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=6310;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4798;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=11108;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=210;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=240;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=450;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2418;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2912;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=5330;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=770;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=592;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1362;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=564;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=664;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1228;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1062;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2624;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=3686;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=54;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=44;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=98;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=6.32191e-05;AN_nfe_XX=15818;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=10884;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=3.74504e-05;AN_nfe=26702;nhomalt_nfe=0;AC_raw=3;AF_raw=2.33430e-05;AN_raw=128518;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=318;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=270;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=588;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=404;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=894;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1298;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=3.74504e-05;AN_grpmax=26702;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|1|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=29.2578;MQRankSum=0.674000;QUALapprox=871;QD=18.5319;ReadPosRankSum=1.04100;SOR=1.51400;VarDP=47;AS_FS=.;AS_MQ=28.3488;AS_MQRankSum=0.674000;AS_pab_max=0.301758;AS_QUALapprox=861;AS_QD=25.3235;AS_ReadPosRankSum=1.04100;AS_SB_TABLE=16,0|29,0;AS_SOR=1.41444;AS_VarDP=34;inbreeding_coeff=0.666659;AS_culprit=AS_MQ;AS_VQSLOD=-4.31520;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|19655|4059|1770|330|74|26|8|2|0|0|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|12053|6239|4225|2660|715|30|1|1|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0;cadd_raw_score=0.253488;cadd_phred=3.74500;phylop=-0.970000;VRS_Allele_IDs=ga4gh:VA.jsjqZd9FVAvB8uoMXGYTmO8pvxbvLPPR,ga4gh:VA.IjxqugrZF4wY13wA2vfFCKsVlFpCYOE1;VRS_Starts=5030446,5030446;VRS_Ends=5030447,5030447;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1606T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1606T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1606T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1606T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1606T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1606T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1606T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1606T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1606T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030448	rs1238454237	G	A	.	AC0;AS_VQSR	AC=0;AN=52294;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=28122;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=24172;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=6376;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4866;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=11242;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=210;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=244;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=454;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2432;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2948;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=5380;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=770;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=606;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1376;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=562;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=670;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1232;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1068;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2658;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=3726;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=54;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=44;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=98;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=15914;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=10964;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=26878;nhomalt_nfe=0;AC_raw=3;AF_raw=2.33093e-05;AN_raw=128704;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=336;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=280;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=616;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=400;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=892;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1292;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=30.4730;MQRankSum=0.727000;QUALapprox=611;QD=12.7292;ReadPosRankSum=0.727000;SOR=0.866000;VarDP=48;AS_FS=.;AS_MQ=30.4730;AS_MQRankSum=0.727000;AS_pab_max=1.00000;AS_QUALapprox=611;AS_QD=12.7292;AS_ReadPosRankSum=0.727000;AS_SB_TABLE=22,0|26,0;AS_SOR=0.866290;AS_VarDP=48;inbreeding_coeff=-2.33098e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.12810;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|19756|4108|1776|342|73|27|8|2|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|12086|6304|4266|2684|719|30|1|1|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.134100;cadd_phred=2.41400;phylop=1.00000;VRS_Allele_IDs=ga4gh:VA.1hQpxBACpED-RQVj2FjeOzk37x72lHwU,ga4gh:VA.p3umG_fkJBcjQ4J2H6IffORqL7FW7P_k;VRS_Starts=5030447,5030447;VRS_Ends=5030448,5030448;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1605G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1605G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1605G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1605G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1605G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1605G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1605G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1605G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1605G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030469	.	T	G	.	AC0;AS_VQSR	AC=0;AN=56168;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=30070;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=26098;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=6826;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=5294;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=12120;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=226;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=260;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=486;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2596;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=3114;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=5710;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=806;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=650;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1456;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=580;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=686;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1266;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1122;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2828;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=3950;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=60;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=46;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=106;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=17094;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=11954;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=29048;nhomalt_nfe=0;AC_raw=2;AF_raw=1.59294e-05;AN_raw=125554;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=326;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=312;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=638;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=434;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=954;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1388;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=29.3251;MQRankSum=1.58900;QUALapprox=87;QD=3.48000;ReadPosRankSum=-0.0670000;SOR=0.116000;VarDP=25;AS_FS=.;AS_MQ=29.3251;AS_MQRankSum=1.58900;AS_pab_max=0.289063;AS_QUALapprox=87;AS_QD=3.48000;AS_ReadPosRankSum=-0.0670000;AS_SB_TABLE=19,0|6,0;AS_SOR=0.115558;AS_VarDP=25;inbreeding_coeff=-1.59297e-05;AS_culprit=AS_MQ;AS_VQSLOD=-4.03090;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|21466|4288|1857|361|80|22|9|1|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|11090|7595|5218|3240|900|37|2|1|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.168190;cadd_phred=2.76900;phylop=-0.333000;VRS_Allele_IDs=ga4gh:VA.UyGmsbn2Jirxi2nsSsBj3MSketmVsbPx,ga4gh:VA.nvF6CfS92TU0n0eBWHfmYvxbjSsqJOc9;VRS_Starts=5030468,5030468;VRS_Ends=5030469,5030469;VRS_States=T,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1584T>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1584T>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1584T>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1584T>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1584T>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1584T>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1584T>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1584T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1584T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030481	rs1309114294	C	T	.	AS_VQSR	AC=15;AN=65032;AF=0.000230656;grpmax=nfe;fafmax_faf95_max=0.000276310;fafmax_faf95_max_gen_anc=nfe;AC_XX=7;AF_XX=0.000202195;AN_XX=34620;nhomalt_XX=0;AC_XY=8;AF_XY=0.000263054;AN_XY=30412;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=8038;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=6322;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=14360;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=250;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=280;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=530;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3008;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=3552;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=6560;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=904;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=752;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1656;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=690;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=826;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1516;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1242;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3250;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=4492;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=68;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=52;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=120;nhomalt_mid=0;AC_nfe_XX=7;AF_nfe_XX=0.000358386;AN_nfe_XX=19532;nhomalt_nfe_XX=0;AC_nfe_XY=8;AF_nfe_XY=0.000577284;AN_nfe_XY=13858;nhomalt_nfe_XY=0;AC_nfe=15;AF_nfe=0.000449236;AN_nfe=33390;nhomalt_nfe=0;AC_raw=31;AF_raw=0.000241271;AN_raw=128486;nhomalt_raw=5;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=380;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=376;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=756;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=508;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1144;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1652;nhomalt_sas=0;AC_grpmax=15;AF_grpmax=0.000449236;AN_grpmax=33390;nhomalt_grpmax=0;faf95=0.000142010;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.000276310;faf95_sas=0.00000;faf99=0.000114270;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.000223290;faf99_sas=0.00000;fafmax_faf99_max=0.000223290;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|1|0|0|1|0|0|0;age_hist_het_n_smaller=1;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.94817;MQ=31.6448;MQRankSum=0.00000;QUALapprox=11829;QD=15.7720;ReadPosRankSum=-0.118000;SOR=0.281000;VarDP=750;AS_FS=2.01395;AS_MQ=31.5930;AS_MQRankSum=0.0450000;AS_pab_max=1.00000;AS_QUALapprox=10730;AS_QD=15.4611;AS_ReadPosRankSum=0.0610000;AS_SB_TABLE=314,5|380,13;AS_SOR=0.237996;AS_VarDP=694;inbreeding_coeff=0.322417;AS_culprit=AS_MQ;AS_VQSLOD=-3.99810;allele_type=snv;n_alt_alleles=3;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|1|0|0|0|0|1|0|0|0|0|0|0|1|13;gq_hist_all_bin_freq=0|0|0|0|24920|4871|2036|469|101|36|8|2|0|0|0|0|0|0|1|13;dp_hist_alt_bin_freq=0|0|6|6|3|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|11724|9537|6254|3819|1072|46|3|1|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|2|0|1|1|2|2|2|1|3|1|0|1|0|0|0|0;cadd_raw_score=-0.132517;cadd_phred=0.710000;phylop=-3.62000;VRS_Allele_IDs=ga4gh:VA.dqXdViSLn8ED9SPKMa6aU4Oc0w2R4qYD,ga4gh:VA.dle57Eg3yrk3uDPPpchSKGZBKahN36iG;VRS_Starts=5030480,5030480;VRS_Ends=5030481,5030481;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1572C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1572C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1572C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1572C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1572C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1572C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1572C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1572C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1572C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030485	rs1370059149	A	C	.	AS_VQSR	AC=2;AN=67358;AF=2.96921e-05;grpmax=nfe;fafmax_faf95_max=9.61000e-06;fafmax_faf95_max_gen_anc=nfe;AC_XX=2;AF_XX=5.59284e-05;AN_XX=35760;nhomalt_XX=1;AC_XY=0;AF_XY=0.00000;AN_XY=31598;nhomalt_XY=0;nhomalt=1;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=8312;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=6586;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=14898;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=248;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=280;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=528;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3116;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=3674;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=6790;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=944;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=774;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1718;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=742;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=880;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1622;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1290;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3378;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=4668;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=80;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=56;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=136;nhomalt_mid=0;AC_nfe_XX=2;AF_nfe_XX=9.93443e-05;AN_nfe_XX=20132;nhomalt_nfe_XX=1;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=14354;nhomalt_nfe_XY=0;AC_nfe=2;AF_nfe=5.79945e-05;AN_nfe=34486;nhomalt_nfe=1;AC_raw=2;AF_raw=1.54469e-05;AN_raw=129476;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=376;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=396;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=772;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=520;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1220;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1740;nhomalt_sas=0;AC_grpmax=2;AF_grpmax=5.79945e-05;AN_grpmax=34486;nhomalt_grpmax=1;faf95=4.93000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=9.61000e-06;faf95_sas=0.00000;faf99=1.84000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=3.59000e-06;faf99_sas=0.00000;fafmax_faf99_max=3.59000e-06;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=2.11202;MQ=31.2359;MQRankSum=0.555000;QUALapprox=722;QD=17.6098;ReadPosRankSum=1.02600;SOR=1.43200;VarDP=41;AS_FS=2.56448;AS_MQ=32.2080;AS_MQRankSum=0.555000;AS_pab_max=1.00000;AS_QUALapprox=653;AS_QD=23.3214;AS_ReadPosRankSum=1.09300;AS_SB_TABLE=13,2|21,1;AS_SOR=1.88040;AS_VarDP=28;inbreeding_coeff=1.00000;AS_culprit=AS_MQ;AS_VQSLOD=-3.85320;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|26051|4893|2104|488|106|29|7|1|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|11957|10143|6488|3933|1107|46|3|1|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0667990;cadd_phred=0.972000;phylop=-1.18000;VRS_Allele_IDs=ga4gh:VA.lFziqbm2PtPt8hZEjNadv_G-LzeAyp7X,ga4gh:VA.NFO86MsWoogHLnDdpkHg4tbG7gh-YQh_;VRS_Starts=5030484,5030484;VRS_Ends=5030485,5030485;VRS_States=A,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1568A>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1568A>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1568A>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1568A>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1568A>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1568A>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1568A>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1568A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1568A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030487	.	G	T	.	AC0	AC=0;AN=69352;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=36744;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=32608;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=8636;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=6894;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=15530;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=250;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=282;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=532;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3172;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=3760;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=6932;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=970;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=784;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1754;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=762;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=912;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1674;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1342;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3490;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=4832;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=76;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=58;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=134;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=20602;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=14752;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=35354;nhomalt_nfe=0;AC_raw=1;AF_raw=7.64807e-06;AN_raw=130752;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=394;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=414;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=808;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=540;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1262;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1802;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=37.3149;MQRankSum=1.23100;QUALapprox=64;QD=12.8000;ReadPosRankSum=0.358000;SOR=0.446000;VarDP=5;AS_FS=.;AS_MQ=37.3149;AS_MQRankSum=1.23100;AS_pab_max=1.00000;AS_QUALapprox=64;AS_QD=12.8000;AS_ReadPosRankSum=0.358000;AS_SB_TABLE=3,0|2,0;AS_SOR=0.446287;AS_VarDP=5;inbreeding_coeff=-7.64813e-06;AS_culprit=AS_MQ;AS_VQSLOD=-2.38390;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|26737|5083|2200|518|104|26|7|1|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|12411|10447|6633|4004|1128|47|4|1|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.403062;cadd_phred=0.189000;phylop=-2.20900;VRS_Allele_IDs=ga4gh:VA.JPQE4rJxiBfAq7ywf-tbRa3iTJOXMEwK,ga4gh:VA.ctkYdW2K9Rwrn3w_xEYsh5OcIBgl71oC;VRS_Starts=5030486,5030486;VRS_Ends=5030487,5030487;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1566G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1566G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1566G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1566G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1566G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1566G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1566G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1566G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1566G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030489	rs1323646291	G	A	.	AC0;AS_VQSR	AC=0;AN=70778;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=37512;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=33266;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=8850;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=7040;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=15890;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=260;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=290;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=550;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3226;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=3864;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=7090;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=978;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=808;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1786;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=790;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=920;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1710;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1378;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3562;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=4940;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=78;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=62;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=140;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=20988;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=14994;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=35982;nhomalt_nfe=0;AC_raw=2;AF_raw=1.52379e-05;AN_raw=131252;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=408;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=416;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=824;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=556;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1310;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1866;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=2.18153;MQ=33.2025;MQRankSum=0.720000;QUALapprox=372;QD=13.7778;ReadPosRankSum=0.727000;SOR=0.257000;VarDP=27;AS_FS=2.29102;AS_MQ=31.7254;AS_MQRankSum=0.727000;AS_pab_max=0.687500;AS_QUALapprox=285;AS_QD=17.8125;AS_ReadPosRankSum=0.727000;AS_SB_TABLE=11,1|9,2;AS_SOR=0.268990;AS_VarDP=16;inbreeding_coeff=-1.52381e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.85770;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|27315|5139|2234|543|117|30|8|2|0|0|0|0|0|1|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|12589|10761|6766|4064|1155|48|4|1|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0347500;cadd_phred=1.56800;phylop=0.782000;VRS_Allele_IDs=ga4gh:VA.S0ni4edaLQJZzhjOEpZWI6mJxiVXr22M,ga4gh:VA.HTzhGV3FeckYP3rHVU6LLmUUS2Xqi87r;VRS_Starts=5030488,5030488;VRS_Ends=5030489,5030489;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1564G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1564G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1564G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1564G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1564G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1564G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1564G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1564G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1564G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030489	rs1323646291	G	T	.	AS_VQSR	AC=1;AN=70778;AF=1.41287e-05;grpmax=afr;AC_XX=0;AF_XX=0.00000;AN_XX=37512;nhomalt_XX=0;AC_XY=1;AF_XY=3.00607e-05;AN_XY=33266;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=8850;nhomalt_afr_XX=0;AC_afr_XY=1;AF_afr_XY=0.000142045;AN_afr_XY=7040;nhomalt_afr_XY=0;AC_afr=1;AF_afr=6.29327e-05;AN_afr=15890;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=260;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=290;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=550;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3226;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=3864;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=7090;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=978;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=808;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1786;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=790;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=920;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1710;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1378;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3562;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=4940;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=78;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=62;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=140;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=20988;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=14994;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=35982;nhomalt_nfe=0;AC_raw=1;AF_raw=7.61893e-06;AN_raw=131252;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=408;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=416;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=824;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=556;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1310;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1866;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=6.29327e-05;AN_grpmax=15890;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=2.18153;MQ=33.2025;MQRankSum=0.720000;QUALapprox=372;QD=13.7778;ReadPosRankSum=0.727000;SOR=0.257000;VarDP=27;AS_FS=3.46787;AS_MQ=35.2407;AS_MQRankSum=0.278000;AS_pab_max=0.548828;AS_QUALapprox=87;AS_QD=7.90909;AS_ReadPosRankSum=1.39800;AS_SB_TABLE=11,1|3,1;AS_SOR=0.105361;AS_VarDP=11;inbreeding_coeff=-7.61899e-06;AS_culprit=AS_MQ;AS_VQSLOD=-2.85060;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|0;gq_hist_all_bin_freq=0|0|0|0|27315|5139|2234|543|117|30|8|2|0|0|0|0|0|1|0|0;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|12589|10761|6766|4064|1155|48|4|1|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0141030;cadd_phred=1.24900;phylop=0.782000;VRS_Allele_IDs=ga4gh:VA.S0ni4edaLQJZzhjOEpZWI6mJxiVXr22M,ga4gh:VA.7prES2RtqUh5Z3B1ejgzmBlLhf-kCUbb;VRS_Starts=5030488,5030488;VRS_Ends=5030489,5030489;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1564G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1564G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1564G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1564G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1564G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1564G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1564G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1564G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1564G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030491	rs1462636569	G	A	.	AC0;AS_VQSR	AC=0;AN=72498;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=38374;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=34124;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=9104;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=7268;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=16372;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=266;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=286;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=552;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3276;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=3980;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=7256;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1000;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=816;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1816;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=838;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=964;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1802;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1394;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3648;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=5042;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=80;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=64;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=144;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=21432;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=15296;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=36728;nhomalt_nfe=0;AC_raw=1;AF_raw=7.60329e-06;AN_raw=131522;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=412;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=456;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=868;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=572;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1346;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1918;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=29.1576;MQRankSum=1.23100;QUALapprox=237;QD=21.5455;ReadPosRankSum=0.358000;SOR=2.49400;VarDP=11;AS_FS=.;AS_MQ=29.1576;AS_MQRankSum=1.23100;AS_pab_max=1.00000;AS_QUALapprox=237;AS_QD=21.5455;AS_ReadPosRankSum=0.358000;AS_SB_TABLE=2,0|9,0;AS_SOR=2.49412;AS_VarDP=11;inbreeding_coeff=-7.60335e-06;AS_culprit=AS_SOR;AS_VQSLOD=-6.33120;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|27957|5302|2276|555|123|28|6|2|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|12739|11148|6974|4144|1188|50|4|1|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0425130;cadd_phred=1.62400;phylop=-0.490000;VRS_Allele_IDs=ga4gh:VA.LAIwe4ECp9a8AGQw4a-6WpL1EZdwtCk0,ga4gh:VA.ar8OLfsJx3X3rvuJHIawme934i6AW5C5;VRS_Starts=5030490,5030490;VRS_Ends=5030491,5030491;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1562G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1562G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1562G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1562G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1562G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1562G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1562G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1562G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1562G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030494	.	T	C	.	AC0;AS_VQSR	AC=0;AN=74322;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=39316;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=35006;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=9358;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=7484;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=16842;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=272;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=296;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=568;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3356;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4060;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=7416;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1006;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=834;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1840;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=876;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1010;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1886;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1422;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3754;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=5176;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=82;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=66;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=148;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=21922;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=15638;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=37560;nhomalt_nfe=0;AC_raw=2;AF_raw=1.51522e-05;AN_raw=131994;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=432;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=466;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=898;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=590;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1398;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1988;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=4.96068;MQ=33.1104;MQRankSum=-0.198000;QUALapprox=66;QD=2.44444;ReadPosRankSum=-0.322000;SOR=0.117000;VarDP=27;AS_FS=4.96068;AS_MQ=33.1104;AS_MQRankSum=-0.198000;AS_pab_max=0.453125;AS_QUALapprox=66;AS_QD=2.44444;AS_ReadPosRankSum=-0.322000;AS_SB_TABLE=16,5|3,3;AS_SOR=0.117398;AS_VarDP=27;inbreeding_coeff=-1.51524e-05;AS_culprit=AS_QD;AS_VQSLOD=-3.70640;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|28719|5398|2312|564|133|27|6|2|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|13019|11555|7110|4216|1203|52|4|1|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.185348;cadd_phred=2.95800;phylop=0.611000;VRS_Allele_IDs=ga4gh:VA.YGAk-HSiQqv7_69H33txPU6c7UuzQInC,ga4gh:VA.XagomRBAfL3kAZS79z7V9dpyYmvPouVJ;VRS_Starts=5030493,5030493;VRS_Ends=5030494,5030494;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1559T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1559T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1559T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1559T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1559T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1559T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1559T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1559T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1559T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030495	rs1391030244	C	G	.	AS_VQSR	AC=1;AN=74966;AF=1.33394e-05;grpmax=sas;AC_XX=1;AF_XX=2.52525e-05;AN_XX=39600;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=35366;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=9452;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=7640;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=17092;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=274;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=294;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=568;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3376;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4104;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=7480;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1010;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=846;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1856;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=890;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1022;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1912;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1436;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3758;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=5194;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=76;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=68;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=144;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=22060;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=15752;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=37812;nhomalt_nfe=0;AC_raw=1;AF_raw=7.56167e-06;AN_raw=132246;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=452;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=476;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=928;nhomalt_remaining=0;AC_sas_XX=1;AF_sas_XX=0.00174216;AN_sas_XX=574;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1406;nhomalt_sas_XY=0;AC_sas=1;AF_sas=0.000505051;AN_sas=1980;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000505051;AN_grpmax=1980;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=3.84072;MQ=32.0280;MQRankSum=0.152000;QUALapprox=19211;QD=16.2392;ReadPosRankSum=0.299000;SOR=1.11600;VarDP=1183;AS_FS=4.82164e-16;AS_MQ=30.3330;AS_MQRankSum=1.03400;AS_pab_max=0.548828;AS_QUALapprox=198;AS_QD=18.0000;AS_ReadPosRankSum=-0.597000;AS_SB_TABLE=388,80|6,1;AS_SOR=0.426011;AS_VarDP=11;inbreeding_coeff=-7.56172e-06;AS_culprit=AS_MQ;AS_VQSLOD=-4.55700;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1|0;gq_hist_all_bin_freq=0|0|0|0|28909|5409|2333|572|138|29|8|4|0|1|0|1|0|1|1|22;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|13061|11686|7176|4237|1209|53|4|1|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0;cadd_raw_score=0.0392430;cadd_phred=1.60000;phylop=0.789000;VRS_Allele_IDs=ga4gh:VA.YxZiDbQ3QhUoVH-otE7wVkaigEDJml1d,ga4gh:VA.NV0L_auJ7rV9CVGXfI11_BOQTXLoF_b6;VRS_Starts=5030494,5030494;VRS_Ends=5030495,5030495;VRS_States=C,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1558C>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1558C>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1558C>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1558C>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1558C>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1558C>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1558C>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1558C>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1558C>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030495	rs1391030244	C	T	.	AS_VQSR	AC=32;AN=74966;AF=0.000426860;grpmax=afr;fafmax_faf95_max=0.00131269;fafmax_faf95_max_gen_anc=afr;AC_XX=18;AF_XX=0.000454545;AN_XX=39600;nhomalt_XX=1;AC_XY=14;AF_XY=0.000395860;AN_XY=35366;nhomalt_XY=0;nhomalt=1;AC_afr_XX=17;AF_afr_XX=0.00179856;AN_afr_XX=9452;nhomalt_afr_XX=1;AC_afr_XY=14;AF_afr_XY=0.00183246;AN_afr_XY=7640;nhomalt_afr_XY=0;AC_afr=31;AF_afr=0.00181371;AN_afr=17092;nhomalt_afr=1;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=274;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=294;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=568;nhomalt_ami=0;AC_amr_XX=1;AF_amr_XX=0.000296209;AN_amr_XX=3376;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4104;nhomalt_amr_XY=0;AC_amr=1;AF_amr=0.000133690;AN_amr=7480;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1010;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=846;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1856;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=890;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1022;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1912;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1436;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3758;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=5194;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=76;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=68;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=144;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=22060;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=15752;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=37812;nhomalt_nfe=0;AC_raw=81;AF_raw=0.000612495;AN_raw=132246;nhomalt_raw=14;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=452;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=476;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=928;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=574;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1406;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1980;nhomalt_sas=0;AC_grpmax=31;AF_grpmax=0.00181371;AN_grpmax=17092;nhomalt_grpmax=1;faf95=0.000309900;faf95_afr=0.00131269;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.000270860;faf99_afr=0.00114199;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=0.00114199;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=1|1|2|1|2|1|2|1|0|0;age_hist_het_n_smaller=2;age_hist_het_n_larger=1;age_hist_hom_bin_freq=0|0|0|1|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=3.84072;MQ=32.0280;MQRankSum=0.152000;QUALapprox=19211;QD=16.2392;ReadPosRankSum=0.299000;SOR=1.11600;VarDP=1183;AS_FS=3.98121;AS_MQ=32.0451;AS_MQRankSum=0.143000;AS_pab_max=1.00000;AS_QUALapprox=18979;AS_QD=16.2631;AS_ReadPosRankSum=0.299000;AS_SB_TABLE=388,80|618,88;AS_SOR=1.13055;AS_VarDP=1167;inbreeding_coeff=0.345278;AS_culprit=AS_MQ;AS_VQSLOD=-3.16200;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|3|2|0|0|1|2|0|0|0|1|0|1|0|22;gq_hist_all_bin_freq=0|0|0|0|28909|5409|2333|572|138|29|8|4|0|1|0|1|0|1|1|22;dp_hist_alt_bin_freq=0|0|21|8|3|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|13061|11686|7176|4237|1209|53|4|1|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|2|1|1|1|4|3|2|8|1|2|0|3|3|0|0|0;cadd_raw_score=0.0815150;cadd_phred=1.93100;phylop=0.789000;VRS_Allele_IDs=ga4gh:VA.YxZiDbQ3QhUoVH-otE7wVkaigEDJml1d,ga4gh:VA.gmft7drvqbOmffl5oBk3X_xPzP2oXIGg;VRS_Starts=5030494,5030494;VRS_Ends=5030495,5030495;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1558C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1558C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1558C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1558C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1558C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1558C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1558C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1558C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1558C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030497	rs1987113224	C	T	.	AC0;AS_VQSR	AC=0;AN=76596;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=40408;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=36188;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=9684;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=7808;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=17492;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=284;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=308;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=592;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3464;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4226;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=7690;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1036;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=864;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1900;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=924;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1046;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1970;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1462;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3890;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=5352;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=84;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=70;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=154;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=22430;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=16060;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=38490;nhomalt_nfe=0;AC_raw=2;AF_raw=1.50430e-05;AN_raw=132952;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=444;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=472;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=916;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=596;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1444;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2040;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=29.4484;MQRankSum=0.736000;QUALapprox=380;QD=15.8333;ReadPosRankSum=0.736000;SOR=1.14800;VarDP=24;AS_FS=0.00000;AS_MQ=30.2205;AS_MQRankSum=-0.493000;AS_pab_max=0.0224609;AS_QUALapprox=173;AS_QD=9.61111;AS_ReadPosRankSum=-0.0990000;AS_SB_TABLE=9,3|6,1;AS_SOR=1.08519;AS_VarDP=18;inbreeding_coeff=1.00000;AS_culprit=AS_MQ;AS_VQSLOD=-3.45260;allele_type=snv;n_alt_alleles=2;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|29532|5552|2432|579|151|38|12|2|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|13417|12026|7291|4283|1220|54|5|1|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.139938;cadd_phred=0.685000;phylop=-0.895000;VRS_Allele_IDs=ga4gh:VA.rB12PstbnHk-CNWP_G97l2JP0go3WWH4,ga4gh:VA.PcmldvkSErg4Zi3Kdi9EbMyllIREyu0O;VRS_Starts=5030496,5030496;VRS_Ends=5030497,5030497;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1556C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1556C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1556C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1556C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1556C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1556C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1556C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1556C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1556C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030498	.	A	G	.	AC0;AS_VQSR	AC=0;AN=76888;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=40590;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=36298;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=9764;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=7840;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=17604;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=284;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=300;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=584;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3484;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4254;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=7738;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1032;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=858;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1890;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=926;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1040;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1966;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1460;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3906;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=5366;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=84;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=72;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=156;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=22512;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=16082;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=38594;nhomalt_nfe=0;AC_raw=1;AF_raw=7.52831e-06;AN_raw=132832;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=444;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=478;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=922;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=600;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1468;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2068;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=18.3251;MQ=32.9679;MQRankSum=0.731000;QUALapprox=72;QD=4.23529;ReadPosRankSum=-0.731000;SOR=0.579000;VarDP=17;AS_FS=18.3251;AS_MQ=32.9679;AS_MQRankSum=0.731000;AS_pab_max=1.00000;AS_QUALapprox=72;AS_QD=4.23529;AS_ReadPosRankSum=-0.731000;AS_SB_TABLE=12,0|2,3;AS_SOR=0.578687;AS_VarDP=17;inbreeding_coeff=-7.52836e-06;AS_culprit=AS_MQ;AS_VQSLOD=-3.50490;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|29676|5574|2433|573|148|30|8|2|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|13429|12106|7328|4296|1224|54|5|1|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0265740;cadd_phred=1.51100;phylop=-0.161000;VRS_Allele_IDs=ga4gh:VA.cWQiJLdvuSXroeyU-e-9cLwVhfVry9NP,ga4gh:VA.yJeLPH65w4dgTUi53kaYdMa67-zhyLkd;VRS_Starts=5030497,5030497;VRS_Ends=5030498,5030498;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1555A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1555A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1555A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1555A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1555A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1555A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1555A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1555A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1555A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030499	.	C	A	.	AC0;AS_VQSR	AC=0;AN=77718;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=40994;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=36724;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=9888;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=7950;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=17838;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=286;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=308;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=594;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3516;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4302;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=7818;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1034;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=868;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1902;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=946;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1066;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2012;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1482;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3934;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=5416;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=86;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=74;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=160;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=22716;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=16260;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=38976;nhomalt_nfe=0;AC_raw=1;AF_raw=7.51021e-06;AN_raw=133152;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=440;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=490;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=930;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=600;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1472;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2072;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=5.44068;MQ=32.8394;MQRankSum=0.922000;QUALapprox=63;QD=4.50000;ReadPosRankSum=0.198000;SOR=0.0330000;VarDP=14;AS_FS=5.44068;AS_MQ=32.8394;AS_MQRankSum=0.922000;AS_pab_max=0.453125;AS_QUALapprox=63;AS_QD=4.50000;AS_ReadPosRankSum=0.198000;AS_SB_TABLE=10,0|3,1;AS_SOR=0.0325232;AS_VarDP=14;inbreeding_coeff=-7.51027e-06;AS_culprit=AS_MQ;AS_VQSLOD=-3.58790;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|29950|5668|2464|583|147|34|10|2|1|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|13570|12274|7391|4329|1234|54|5|1|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.154394;cadd_phred=0.639000;phylop=-0.0180000;VRS_Allele_IDs=ga4gh:VA.W4cOltzbtZfYnAzpHAeVLJjyIA20pLS8,ga4gh:VA.uIjk6cJD493b9TQf0CyV6iT9PEhKAPWh;VRS_Starts=5030498,5030498;VRS_Ends=5030499,5030499;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1554C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1554C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1554C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1554C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1554C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1554C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1554C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1554C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1554C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030507	rs1987113321	T	C	.	AC0;AS_VQSR	AC=0;AN=81822;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=43082;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=38740;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=10500;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=8492;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=18992;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=300;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=312;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=612;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3710;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4506;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8216;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1070;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=904;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1974;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1004;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1204;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2208;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1562;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4230;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=5792;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=86;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=78;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=164;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=23750;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=16914;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=40664;nhomalt_nfe=0;AC_raw=2;AF_raw=1.48613e-05;AN_raw=134578;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=470;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=518;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=988;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=630;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1582;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2212;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=2.86944;MQ=34.6516;MQRankSum=0.736000;QUALapprox=67;QD=4.46667;ReadPosRankSum=0.537000;SOR=0.0860000;VarDP=15;AS_FS=2.86944;AS_MQ=34.6516;AS_MQRankSum=0.736000;AS_pab_max=1.00000;AS_QUALapprox=67;AS_QD=4.46667;AS_ReadPosRankSum=0.537000;AS_SB_TABLE=9,2|2,2;AS_SOR=0.0861777;AS_VarDP=15;inbreeding_coeff=-1.48615e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.04720;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|31389|6008|2652|647|158|47|8|2|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14149|13193|7756|4472|1273|60|6|1|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0842880;cadd_phred=0.894000;phylop=-3.43100;VRS_Allele_IDs=ga4gh:VA.dBgkyR4SShZENIAK5tw1D2Dq6QHtMwzz,ga4gh:VA._N9m4dvvd3M3taiqZ8gEs5xLUJJH88V-;VRS_Starts=5030506,5030506;VRS_Ends=5030507,5030507;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1546T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1546T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1546T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1546T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1546T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1546T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1546T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1546T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1546T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030513	.	T	C	.	AC0;AS_VQSR	AC=0;AN=84388;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=44396;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=39992;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=10838;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=8916;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=19754;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=310;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=318;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=628;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3842;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4674;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8516;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1090;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=932;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2022;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1102;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1256;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2358;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1640;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4332;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=5972;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=90;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=74;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=164;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=24336;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=17296;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=41632;nhomalt_nfe=0;AC_raw=3;AF_raw=2.22193e-05;AN_raw=135018;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=488;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=532;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1020;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=660;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1662;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2322;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=22.7467;MQ=34.6270;MQRankSum=-0.720000;QUALapprox=226;QD=6.64706;ReadPosRankSum=0.00000;SOR=1.18800;VarDP=34;AS_FS=12.2466;AS_MQ=35.5204;AS_MQRankSum=-0.720000;AS_pab_max=0.687500;AS_QUALapprox=106;AS_QD=3.53333;AS_ReadPosRankSum=0.00000;AS_SB_TABLE=19,3|4,4;AS_SOR=0.0392207;AS_VarDP=30;inbreeding_coeff=-2.22198e-05;AS_culprit=AS_QD;AS_VQSLOD=-3.65280;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|32288|6200|2772|698|169|53|11|3|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14415|13860|7990|4560|1294|66|6|2|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.225324;cadd_phred=3.41600;phylop=0.611000;VRS_Allele_IDs=ga4gh:VA.1cZfaCPCRFBw5KDrxszbyXWHY4GCBStv,ga4gh:VA.IEIZ_m5AuQXZeqz1kTsffgdIIDEfdQch;VRS_Starts=5030512,5030512;VRS_Ends=5030513,5030513;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1540T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1540T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1540T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1540T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1540T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1540T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1540T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1540T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1540T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030515	rs1451043955	C	T	.	AC0;AS_VQSR	AC=0;AN=85394;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=44910;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=40484;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=11000;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=9062;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=20062;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=310;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=314;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=624;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3854;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4736;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8590;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1114;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=928;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2042;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1102;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1286;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2388;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1650;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4360;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6010;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=94;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=78;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=172;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=24610;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=17488;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=42098;nhomalt_nfe=0;AC_raw=4;AF_raw=2.96463e-05;AN_raw=134924;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=502;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=548;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1050;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=674;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1684;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2358;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=23.1769;MQ=34.0240;MQRankSum=-0.572000;QUALapprox=1260;QD=8.68966;ReadPosRankSum=-0.198000;SOR=0.0990000;VarDP=145;AS_FS=19.6045;AS_MQ=34.4843;AS_MQRankSum=-0.0670000;AS_pab_max=1.00000;AS_QUALapprox=1172;AS_QD=9.93220;AS_ReadPosRankSum=-0.198000;AS_SB_TABLE=75,14|32,18;AS_SOR=0.111103;AS_VarDP=118;inbreeding_coeff=-2.96472e-05;AS_culprit=AS_MQ;AS_VQSLOD=-4.99950;negative_train_site;allele_type=snv;n_alt_alleles=3;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|32696|6317|2773|687|166|45|10|2|1|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14479|14142|8090|4601|1308|67|7|2|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0858830;cadd_phred=0.887000;phylop=-1.71700;VRS_Allele_IDs=ga4gh:VA.veGT_cpbikt8QBE10SYnRUHnAlEVO1GP,ga4gh:VA.zvozVdLt2r6TmS5hk8uryhyvGZzFx801;VRS_Starts=5030514,5030514;VRS_Ends=5030515,5030515;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1538C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1538C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1538C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1538C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1538C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1538C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1538C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1538C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1538C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030516	rs1362542218	G	A	.	AS_VQSR	AC=65;AN=86518;AF=0.000751289;grpmax=afr;fafmax_faf95_max=0.00216905;fafmax_faf95_max_gen_anc=afr;AC_XX=36;AF_XX=0.000791592;AN_XX=45478;nhomalt_XX=1;AC_XY=29;AF_XY=0.000706628;AN_XY=41040;nhomalt_XY=0;nhomalt=1;AC_afr_XX=29;AF_afr_XX=0.00259717;AN_afr_XX=11166;nhomalt_afr_XX=1;AC_afr_XY=27;AF_afr_XY=0.00291955;AN_afr_XY=9248;nhomalt_afr_XY=0;AC_afr=56;AF_afr=0.00274322;AN_afr=20414;nhomalt_afr=1;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=314;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=318;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=632;nhomalt_ami=0;AC_amr_XX=6;AF_amr_XX=0.00153846;AN_amr_XX=3900;nhomalt_amr_XX=0;AC_amr_XY=1;AF_amr_XY=0.000207039;AN_amr_XY=4830;nhomalt_amr_XY=0;AC_amr=7;AF_amr=0.000801833;AN_amr=8730;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1130;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=946;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2076;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1122;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1302;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2424;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1672;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4380;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6052;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=92;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=74;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=166;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=24892;nhomalt_nfe_XX=0;AC_nfe_XY=1;AF_nfe_XY=5.66123e-05;AN_nfe_XY=17664;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=2.34984e-05;AN_nfe=42556;nhomalt_nfe=0;AC_raw=250;AF_raw=0.00184434;AN_raw=135550;nhomalt_raw=46;AC_remaining_XX=1;AF_remaining_XX=0.00191571;AN_remaining_XX=522;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=560;nhomalt_remaining_XY=0;AC_remaining=1;AF_remaining=0.000924214;AN_remaining=1082;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=668;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1718;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2386;nhomalt_sas=0;AC_grpmax=56;AF_grpmax=0.00274322;AN_grpmax=20414;nhomalt_grpmax=1;faf95=0.000604210;faf95_afr=0.00216905;faf95_amr=0.000375710;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.000551010;faf99_afr=0.00196271;faf99_amr=0.000266050;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=0.00196271;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=0|1|2|3|6|4|0|0|1|1;age_hist_het_n_smaller=5;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=27.0774;MQ=30.6610;MQRankSum=-0.589000;QUALapprox=36435;QD=11.0879;ReadPosRankSum=0.118000;SOR=0.148000;VarDP=3286;AS_FS=27.0774;AS_MQ=30.6694;AS_MQRankSum=-0.597000;AS_pab_max=1.00000;AS_QUALapprox=36410;AS_QD=11.1074;AS_ReadPosRankSum=0.133000;AS_SB_TABLE=1278,506|753,747;AS_SOR=0.148133;AS_VarDP=3278;inbreeding_coeff=0.366832;AS_culprit=AS_MQ;AS_VQSLOD=-6.29570;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|1|5|0|2|1|3|4|2|4|0|0|1|7|7|27;gq_hist_all_bin_freq=0|0|0|0|33017|6378|2806|702|179|51|18|7|2|4|0|0|1|7|7|27;dp_hist_alt_bin_freq=0|0|46|16|2|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14681|14363|8150|4618|1317|66|8|2|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|9|9|15|8|10|3|5|0|1|0|1|0|2|0|0|0;cadd_raw_score=-0.0792730;cadd_phred=0.916000;phylop=0.782000;VRS_Allele_IDs=ga4gh:VA.mNo7Chjph9SjHiPrVUcby6RebhsccjIz,ga4gh:VA.ptO8MwbPfjDdNDIdABySYlIPwgWOnTWx;VRS_Starts=5030515,5030515;VRS_Ends=5030516,5030516;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1537G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1537G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1537G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1537G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1537G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1537G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1537G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1537G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1537G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030520	.	G	T	.	AC0;AS_VQSR	AC=0;AN=88430;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=46482;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=41948;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=11490;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=9478;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=20968;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=316;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=326;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=642;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4000;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4904;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8904;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1144;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=962;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2106;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1156;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1358;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2514;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1682;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4510;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6192;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=82;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=180;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=25374;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=17968;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=43342;nhomalt_nfe=0;AC_raw=2;AF_raw=1.46750e-05;AN_raw=136286;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=522;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=572;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1094;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=700;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1788;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2488;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=2.61636;MQ=30.0361;MQRankSum=-0.480000;QUALapprox=68;QD=5.66667;ReadPosRankSum=0.480000;SOR=0.169000;VarDP=12;AS_FS=2.61636;AS_MQ=30.0361;AS_MQRankSum=-0.480000;AS_pab_max=0.109375;AS_QUALapprox=68;AS_QD=5.66667;AS_ReadPosRankSum=0.480000;AS_SB_TABLE=6,2|2,2;AS_SOR=0.168623;AS_VarDP=12;inbreeding_coeff=1.00000;AS_culprit=AS_MQ;AS_VQSLOD=-3.63280;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|33603|6616|2971|756|190|54|20|3|2|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14873|14902|8351|4677|1332|68|8|3|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0301460;cadd_phred=1.53600;phylop=-0.0750000;VRS_Allele_IDs=ga4gh:VA.SttOMRHPanxUjxVnqFpDIUDUfjODPJTE,ga4gh:VA.1Mx67IY6ev0PcPrVU1F_Dv1GfiSpYPyP;VRS_Starts=5030519,5030519;VRS_Ends=5030520,5030520;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1533G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1533G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1533G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1533G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1533G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1533G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1533G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1533G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1533G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030521	rs1181122682	G	A	.	AS_VQSR	AC=42;AN=88776;AF=0.000473101;grpmax=eas;fafmax_faf95_max=0.00752623;fafmax_faf95_max_gen_anc=eas;AC_XX=16;AF_XX=0.000343230;AN_XX=46616;nhomalt_XX=0;AC_XY=26;AF_XY=0.000616698;AN_XY=42160;nhomalt_XY=1;nhomalt=1;AC_afr_XX=6;AF_afr_XX=0.000520562;AN_afr_XX=11526;nhomalt_afr_XX=0;AC_afr_XY=6;AF_afr_XY=0.000625130;AN_afr_XY=9598;nhomalt_afr_XY=0;AC_afr=12;AF_afr=0.000568074;AN_afr=21124;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=320;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=322;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=642;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4018;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4924;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8942;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1144;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=974;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2118;nhomalt_asj=0;AC_eas_XX=10;AF_eas_XX=0.00857633;AN_eas_XX=1166;nhomalt_eas_XX=0;AC_eas_XY=17;AF_eas_XY=0.0124451;AN_eas_XY=1366;nhomalt_eas_XY=1;AC_eas=27;AF_eas=0.0106635;AN_eas=2532;nhomalt_eas=1;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1682;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4506;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6188;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=90;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=80;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=170;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=25438;nhomalt_nfe_XX=0;AC_nfe_XY=1;AF_nfe_XY=5.55124e-05;AN_nfe_XY=18014;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=2.30139e-05;AN_nfe=43452;nhomalt_nfe=0;AC_raw=122;AF_raw=0.000894336;AN_raw=136414;nhomalt_raw=20;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=538;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=586;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1124;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=694;nhomalt_sas_XX=0;AC_sas_XY=2;AF_sas_XY=0.00111732;AN_sas_XY=1790;nhomalt_sas_XY=0;AC_sas=2;AF_sas=0.000805153;AN_sas=2484;nhomalt_sas=0;AC_grpmax=27;AF_grpmax=0.0106635;AN_grpmax=2532;nhomalt_grpmax=1;faf95=0.000359220;faf95_afr=0.000326840;faf95_amr=0.00000;faf95_eas=0.00752623;faf95_nfe=0.00000;faf95_sas=0.000142130;faf99=0.000319220;faf99_afr=0.000256950;faf99_amr=0.00000;faf99_eas=0.00647576;faf99_nfe=0.00000;faf99_sas=5.97000e-05;fafmax_faf99_max=0.00647576;fafmax_faf99_max_gen_anc=eas;age_hist_het_bin_freq=0|0|0|3|2|3|4|3|2|2;age_hist_het_n_smaller=3;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|1|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=28.5167;MQ=30.8737;MQRankSum=-0.600000;QUALapprox=22323;QD=11.1727;ReadPosRankSum=0.180000;SOR=0.421000;VarDP=1998;AS_FS=28.5167;AS_MQ=30.8738;AS_MQRankSum=-0.674000;AS_pab_max=1.00000;AS_QUALapprox=22310;AS_QD=11.2336;AS_ReadPosRankSum=0.180000;AS_SB_TABLE=744,331|428,493;AS_SOR=0.421719;AS_VarDP=1986;inbreeding_coeff=0.327267;AS_culprit=AS_FS;AS_VQSLOD=-5.47410;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|1|0|1|0|0|0|2|2|3|4|2|0|1|0|5|19;gq_hist_all_bin_freq=0|0|0|0|33671|6620|2958|780|186|57|20|5|5|4|2|0|1|0|5|19;dp_hist_alt_bin_freq=0|0|28|9|3|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14860|14998|8377|4685|1332|68|9|3|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|5|1|11|6|6|1|5|0|0|3|0|1|0|0|0|0;cadd_raw_score=-0.0963350;cadd_phred=0.844000;phylop=-0.0320000;VRS_Allele_IDs=ga4gh:VA.jMlnYIYgw9wZgsXp9_w_MJVme6qXA2lK,ga4gh:VA.BNj90UUNGE7Lqov2cm9QgbPUMIICc8q2;VRS_Starts=5030520,5030520;VRS_Ends=5030521,5030521;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1532G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1532G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1532G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1532G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1532G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1532G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1532G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1532G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1532G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030526	rs1440697118	G	A	.	AS_VQSR	AC=8;AN=90870;AF=8.80379e-05;grpmax=sas;fafmax_faf95_max=0.00154477;fafmax_faf95_max_gen_anc=sas;AC_XX=2;AF_XX=4.19586e-05;AN_XX=47666;nhomalt_XX=0;AC_XY=6;AF_XY=0.000138876;AN_XY=43204;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=11890;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=9886;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=21776;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=320;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=334;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=654;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4108;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5018;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9126;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1180;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=994;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2174;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1232;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1442;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2674;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1696;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4616;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6312;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=84;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=182;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=25896;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18370;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=44266;nhomalt_nfe=0;AC_raw=15;AF_raw=0.000109545;AN_raw=136930;nhomalt_raw=2;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=532;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=598;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1130;nhomalt_remaining=0;AC_sas_XX=2;AF_sas_XX=0.00280112;AN_sas_XX=714;nhomalt_sas_XX=0;AC_sas_XY=6;AF_sas_XY=0.00322234;AN_sas_XY=1862;nhomalt_sas_XY=0;AC_sas=8;AF_sas=0.00310559;AN_sas=2576;nhomalt_sas=0;AC_grpmax=8;AF_grpmax=0.00310559;AN_grpmax=2576;nhomalt_grpmax=0;faf95=4.37700e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00154477;faf99=3.12700e-05;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00112767;fafmax_faf99_max=0.00112767;fafmax_faf99_max_gen_anc=sas;age_hist_het_bin_freq=0|1|0|0|1|1|3|0|1|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=3.53080;MQ=33.7483;MQRankSum=0.248000;QUALapprox=3062;QD=15.3869;ReadPosRankSum=0.633000;SOR=0.971000;VarDP=199;AS_FS=3.57054;AS_MQ=33.8132;AS_MQRankSum=0.0480000;AS_pab_max=1.00000;AS_QUALapprox=3036;AS_QD=15.8953;AS_ReadPosRankSum=0.633000;AS_SB_TABLE=53,29|81,34;AS_SOR=0.991075;AS_VarDP=191;inbreeding_coeff=0.266586;AS_culprit=AS_MQ;AS_VQSLOD=-2.68610;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|7;gq_hist_all_bin_freq=0|0|0|0|34283|6886|3126|841|200|60|25|4|1|1|0|0|0|1|0|7;dp_hist_alt_bin_freq=0|0|5|2|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|15078|15594|8569|4758|1347|74|10|4|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|1|2|1|2|1|1|0|0|0|0|0|0|0;cadd_raw_score=0.0896600;cadd_phred=2.00000;pangolin_largest_ds=0.00000;phylop=-0.0750000;VRS_Allele_IDs=ga4gh:VA.-bpzuoQGbGOllXp8SMrV-8UcykEZnMss,ga4gh:VA.XNsfMSxco1hzrr8gp4BFLxeisEOwA9Uw;VRS_Starts=5030525,5030525;VRS_Ends=5030526,5030526;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1527G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1527G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1527G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1527G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1527G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1527G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1527G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1527G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1527G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030529	rs1252690975	G	A	.	AS_VQSR	AC=2;AN=92104;AF=2.17146e-05;grpmax=nfe;fafmax_faf95_max=7.42000e-06;fafmax_faf95_max_gen_anc=nfe;AC_XX=0;AF_XX=0.00000;AN_XX=48256;nhomalt_XX=0;AC_XY=2;AF_XY=4.56121e-05;AN_XY=43848;nhomalt_XY=1;nhomalt=1;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=12086;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=10072;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=22158;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=322;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=332;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=654;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4176;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5068;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9244;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1202;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1008;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2210;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1248;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1508;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2756;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1720;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4682;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6402;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=88;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=186;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26138;nhomalt_nfe_XX=0;AC_nfe_XY=2;AF_nfe_XY=0.000107759;AN_nfe_XY=18560;nhomalt_nfe_XY=1;AC_nfe=2;AF_nfe=4.47447e-05;AN_nfe=44698;nhomalt_nfe=1;AC_raw=2;AF_raw=1.45973e-05;AN_raw=137012;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=540;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=606;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1146;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=726;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1924;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2650;nhomalt_sas=0;AC_grpmax=2;AF_grpmax=4.47447e-05;AN_grpmax=44698;nhomalt_grpmax=1;faf95=3.61000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=7.42000e-06;faf95_sas=0.00000;faf99=1.35000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=2.78000e-06;faf99_sas=0.00000;fafmax_faf99_max=2.78000e-06;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=35.8650;QUALapprox=300;QD=30.0000;SOR=3.25800;VarDP=10;AS_FS=.;AS_MQ=35.8650;AS_QUALapprox=300;AS_QD=30.0000;AS_SB_TABLE=0,0|9,1;AS_SOR=3.25810;AS_VarDP=10;inbreeding_coeff=1.00000;AS_culprit=AS_SOR;AS_VQSLOD=-7.28530;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|34535|7082|3254|867|223|61|23|4|1|2|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14952|15992|8781|4857|1379|75|10|5|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.143785;cadd_phred=0.673000;phylop=-2.16300;VRS_Allele_IDs=ga4gh:VA.iR1sPTQgPL0LE2c761FaPDZQpvCPfBdM,ga4gh:VA.9MZaBw2xgN6oDyuswzBqrVeCn-mr0cvZ;VRS_Starts=5030528,5030528;VRS_Ends=5030529,5030529;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1524G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1524G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1524G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1524G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1524G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1524G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1524G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1524G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1524G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030534	rs1192161451	G	A	.	AS_VQSR	AC=10;AN=94148;AF=0.000106216;grpmax=nfe;fafmax_faf95_max=0.000118530;fafmax_faf95_max_gen_anc=nfe;AC_XX=8;AF_XX=0.000162463;AN_XX=49242;nhomalt_XX=1;AC_XY=2;AF_XY=4.45375e-05;AN_XY=44906;nhomalt_XY=0;nhomalt=1;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=12364;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=10312;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=22676;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=326;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=342;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=668;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4270;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5210;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9480;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1222;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1028;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2250;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1294;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1590;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2884;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1752;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4782;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6534;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=100;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=88;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=188;nhomalt_mid=0;AC_nfe_XX=8;AF_nfe_XX=0.000300820;AN_nfe_XX=26594;nhomalt_nfe_XX=1;AC_nfe_XY=2;AF_nfe_XY=0.000105485;AN_nfe_XY=18960;nhomalt_nfe_XY=0;AC_nfe=10;AF_nfe=0.000219520;AN_nfe=45554;nhomalt_nfe=1;AC_raw=10;AF_raw=7.28406e-05;AN_raw=137286;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=562;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=620;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1182;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=758;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1974;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2732;nhomalt_sas=0;AC_grpmax=10;AF_grpmax=0.000219520;AN_grpmax=45554;nhomalt_grpmax=1;faf95=5.75700e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.000118530;faf95_sas=0.00000;faf99=4.30100e-05;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=9.04400e-05;faf99_sas=0.00000;fafmax_faf99_max=9.04400e-05;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|1|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=3.29277;MQ=33.2934;MQRankSum=0.578000;QUALapprox=4205;QD=12.7039;ReadPosRankSum=0.377000;SOR=0.887000;VarDP=331;AS_FS=4.92937;AS_MQ=33.5975;AS_MQRankSum=0.578000;AS_pab_max=1.00000;AS_QUALapprox=4092;AS_QD=14.2578;AS_ReadPosRankSum=0.377000;AS_SB_TABLE=116,51|115,39;AS_SOR=0.978790;AS_VarDP=287;inbreeding_coeff=0.199942;AS_culprit=AS_MQ;AS_VQSLOD=-2.82760;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|1|0|0|0|0|0|0|1|0|0|1|0|0|6;gq_hist_all_bin_freq=0|0|0|0|35134|7384|3336|892|228|68|20|1|1|1|1|0|2|0|0|6;dp_hist_alt_bin_freq=0|0|1|3|3|2|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14705|16727|9146|4985|1417|76|12|5|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|1|1|0|0|2|1|0|2|0|0|0|1|0|0|0;cadd_raw_score=0.124562;cadd_phred=2.32000;phylop=-0.0570000;VRS_Allele_IDs=ga4gh:VA.W7-TlkwOrOe_MtqMcvgGOzXY05NeWnfi,ga4gh:VA.dfiaXTxF9rX7LIv6f8MGra-mUY--m6R3;VRS_Starts=5030533,5030533;VRS_Ends=5030534,5030534;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1519G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1519G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1519G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1519G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1519G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1519G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1519G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1519G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1519G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030534	.	G	T	.	AC0;AS_VQSR	AC=0;AN=94148;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=49242;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=44906;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=12364;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=10312;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=22676;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=326;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=342;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=668;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4270;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5210;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9480;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1222;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1028;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2250;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1294;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1590;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2884;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1752;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4782;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6534;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=100;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=88;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=188;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26594;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18960;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=45554;nhomalt_nfe=0;AC_raw=3;AF_raw=2.18522e-05;AN_raw=137286;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=562;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=620;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1182;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=758;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1974;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2732;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=3.29277;MQ=33.2934;MQRankSum=0.578000;QUALapprox=4205;QD=12.7039;ReadPosRankSum=0.377000;SOR=0.887000;VarDP=331;AS_FS=5.35131;AS_MQ=31.2228;AS_MQRankSum=-0.198000;AS_pab_max=0.687500;AS_QUALapprox=113;AS_QD=2.56818;AS_ReadPosRankSum=0.198000;AS_SB_TABLE=116,51|5,5;AS_SOR=0.180262;AS_VarDP=44;inbreeding_coeff=-2.18527e-05;AS_culprit=AS_QD;AS_VQSLOD=-3.39850;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|35134|7384|3336|892|228|68|20|1|1|1|1|0|2|0|0|6;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14705|16727|9146|4985|1417|76|12|5|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0757090;cadd_phred=1.88200;phylop=-0.0570000;VRS_Allele_IDs=ga4gh:VA.W7-TlkwOrOe_MtqMcvgGOzXY05NeWnfi,ga4gh:VA.OMIWbr-Kx-Yo3B_S-azYMZggy-oS-ygo;VRS_Starts=5030533,5030533;VRS_Ends=5030534,5030534;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1519G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1519G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1519G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1519G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1519G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1519G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1519G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1519G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1519G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030535	rs1987113825	A	G	.	AC0;AS_VQSR	AC=0;AN=94340;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=49290;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=45050;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=12354;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=10318;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=22672;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=326;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=342;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=668;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4304;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5240;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9544;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1220;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1030;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2250;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1308;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1594;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2902;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1764;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4778;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6542;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=100;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=92;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=192;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26596;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19052;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=45648;nhomalt_nfe=0;AC_raw=1;AF_raw=7.28088e-06;AN_raw=137346;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=560;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=616;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1176;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=758;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1988;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2746;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=6.56459;MQ=30.1130;MQRankSum=0.922000;QUALapprox=97;QD=2.48718;ReadPosRankSum=0.198000;SOR=0.132000;VarDP=39;AS_FS=4.74871;AS_MQ=29.8148;AS_MQRankSum=0.922000;AS_pab_max=0.453125;AS_QUALapprox=69;AS_QD=2.65385;AS_ReadPosRankSum=0.198000;AS_SB_TABLE=23,8|3,3;AS_SOR=0.131576;AS_VarDP=26;inbreeding_coeff=-7.28093e-06;AS_culprit=AS_MQ;AS_VQSLOD=-3.59050;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|35242|7397|3315|901|228|65|18|1|1|0|2|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14655|16814|9181|5003|1421|78|12|5|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.269758;cadd_phred=3.93600;phylop=0.609000;VRS_Allele_IDs=ga4gh:VA.d15j3oAGYf0pWz5KGeYJdT33OJE2Oaz4,ga4gh:VA.B-VN6rQH7-hLjxNOl78969tlJDox7wDd;VRS_Starts=5030534,5030534;VRS_Ends=5030535,5030535;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1518A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1518A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1518A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1518A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1518A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1518A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1518A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1518A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1518A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030539	.	T	C	.	AC0	AC=0;AN=96024;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=50140;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=45884;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=12646;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=10556;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=23202;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=330;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=336;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=666;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4366;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5320;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9686;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1242;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1044;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2286;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1362;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1664;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3026;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1774;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4896;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6670;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=102;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=92;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=194;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26972;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19316;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46288;nhomalt_nfe=0;AC_raw=1;AF_raw=7.27326e-06;AN_raw=137490;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=566;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=618;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1184;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=780;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2042;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2822;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=41.8051;MQRankSum=-1.49500;QUALapprox=85;QD=4.72222;ReadPosRankSum=1.29600;SOR=0.473000;VarDP=18;AS_FS=0.00000;AS_MQ=41.8051;AS_MQRankSum=-1.49500;AS_pab_max=0.453125;AS_QUALapprox=85;AS_QD=4.72222;AS_ReadPosRankSum=1.29600;AS_SB_TABLE=8,6|2,2;AS_SOR=0.473085;AS_VarDP=18;inbreeding_coeff=-7.27331e-06;AS_culprit=AS_QD;AS_VQSLOD=-2.05680;negative_train_site;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|35859|7630|3290|928|226|61|16|1|1|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14689|17370|9365|5053|1438|78|13|5|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0540710;cadd_phred=1.71100;phylop=-0.156000;VRS_Allele_IDs=ga4gh:VA.zZOv3cF1U5q4OaoNcJkP5jXJmKTfFNUd,ga4gh:VA.TF-qJ3LayK4bMepbpZn3Tv2DIF6M1lE6;VRS_Starts=5030538,5030538;VRS_Ends=5030539,5030539;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1514T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1514T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1514T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1514T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1514T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1514T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1514T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1514T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1514T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030541	.	T	C	.	AC0;AS_VQSR	AC=0;AN=97220;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=50760;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=46460;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=12776;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=10680;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=23456;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=334;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=338;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=672;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4410;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5416;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9826;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1248;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1056;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2304;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1364;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1692;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3056;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1800;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4948;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6748;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=102;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=92;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=194;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27348;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19526;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46874;nhomalt_nfe=0;AC_raw=3;AF_raw=2.17130e-05;AN_raw=138166;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=584;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=640;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1224;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=794;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2072;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2866;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=31.2419;MQRankSum=0.00000;QUALapprox=128;QD=1.88235;ReadPosRankSum=0.296000;SOR=0.565000;VarDP=68;AS_FS=0.00000;AS_MQ=31.2419;AS_MQRankSum=0.00000;AS_pab_max=0.687500;AS_QUALapprox=128;AS_QD=1.88235;AS_ReadPosRankSum=0.296000;AS_SB_TABLE=30,26|6,6;AS_SOR=0.564509;AS_VarDP=68;inbreeding_coeff=-2.17135e-05;AS_culprit=AS_QD;AS_VQSLOD=-3.00510;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|36168|7766|3394|956|237|68|19|1|1|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14872|17641|9464|5088|1450|77|12|5|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.274317;cadd_phred=3.98900;phylop=-0.166000;VRS_Allele_IDs=ga4gh:VA.Mr-VTbJ_QpZ2EmNdGAbU6DRKha5zp7T4,ga4gh:VA.oorl-TVy0IqUp0NMTHDKJLLZE6BENf76;VRS_Starts=5030540,5030540;VRS_Ends=5030541,5030541;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1512T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1512T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1512T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1512T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1512T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1512T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1512T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1512T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1512T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030550	.	G	T	.	AC0;AS_VQSR	AC=0;AN=100554;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=52426;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=48128;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=13300;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=11104;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=24404;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=346;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=342;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=688;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4564;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5586;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=10150;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1290;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1096;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2386;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1436;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1782;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3218;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1848;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5168;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7016;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=106;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=94;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=200;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=28100;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=20122;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=48222;nhomalt_nfe=0;AC_raw=3;AF_raw=2.16360e-05;AN_raw=138658;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=614;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=658;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1272;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=822;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2176;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2998;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=5.83895;MQ=34.1160;MQRankSum=-0.0990000;QUALapprox=74;QD=1.34545;ReadPosRankSum=-0.280000;SOR=0.525000;VarDP=55;AS_FS=6.30780;AS_MQ=34.8821;AS_MQRankSum=-1.06100;AS_pab_max=0.0654297;AS_QUALapprox=64;AS_QD=1.52381;AS_ReadPosRankSum=-0.280000;AS_SB_TABLE=31,15|3,4;AS_SOR=0.594707;AS_VarDP=42;inbreeding_coeff=-2.16364e-05;AS_culprit=AS_QD;AS_VQSLOD=-2.83130;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|37187|8208|3558|983|252|68|19|1|1|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14976|18653|9845|5222|1484|78|12|6|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0903230;cadd_phred=2.00600;phylop=-0.0480000;VRS_Allele_IDs=ga4gh:VA.G7KyBTPrQyGOslibUw2D84_9MD2mLvrY,ga4gh:VA.eo3mYHENFhsB_cdjwJKoT67LRADiM8N2;VRS_Starts=5030549,5030549;VRS_Ends=5030550,5030550;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1503G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1503G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1503G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1503G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1503G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1503G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1503G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1503G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1503G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030551	.	A	G	.	AC0;AS_VQSR	AC=0;AN=100708;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=52498;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=48210;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=13296;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=11114;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=24410;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=348;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=338;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=686;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4580;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5568;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=10148;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1294;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1108;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2402;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1448;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1792;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3240;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1858;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5198;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7056;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=106;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=94;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=200;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=28136;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=20160;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=48296;nhomalt_nfe=0;AC_raw=2;AF_raw=1.44225e-05;AN_raw=138672;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=612;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=656;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1268;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=820;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2182;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3002;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=3.40623;MQ=33.3794;MQRankSum=-1.17900;QUALapprox=113;QD=2.56818;ReadPosRankSum=-0.0670000;SOR=0.223000;VarDP=44;AS_FS=3.71142;AS_MQ=32.9532;AS_MQRankSum=-1.02600;AS_pab_max=1.00000;AS_QUALapprox=94;AS_QD=2.76471;AS_ReadPosRankSum=-0.0670000;AS_SB_TABLE=23,11|4,4;AS_SOR=0.223144;AS_VarDP=34;inbreeding_coeff=-1.44227e-05;AS_culprit=AS_QD;AS_VQSLOD=-3.42910;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|37248|8204|3568|991|251|71|17|2|2|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14903|18740|9892|5237|1486|77|12|6|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.289608;cadd_phred=4.16800;phylop=0.609000;VRS_Allele_IDs=ga4gh:VA.TctE-c0TYTAvgYQqXhWCl3VPy7-nVX8H,ga4gh:VA.0nJEo-1l8EcIvYyPIP__8gdQUley7--a;VRS_Starts=5030550,5030550;VRS_Ends=5030551,5030551;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1502A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1502A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1502A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1502A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1502A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1502A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1502A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1502A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1502A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030556	.	G	T	.	AC0;AS_VQSR	AC=0;AN=103402;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=53914;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=49488;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=13746;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=11522;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=25268;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=346;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=346;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=692;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4680;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5718;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=10398;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1324;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1128;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2452;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1504;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1848;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3352;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1876;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5274;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7150;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=108;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=94;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=202;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=28846;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=20606;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=49452;nhomalt_nfe=0;AC_raw=2;AF_raw=1.43622e-05;AN_raw=139254;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=632;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=674;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1306;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=852;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2278;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3130;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=2.12812;MQ=30.4187;MQRankSum=0.720000;QUALapprox=87;QD=4.35000;ReadPosRankSum=-0.720000;SOR=0.188000;VarDP=20;AS_FS=2.12812;AS_MQ=30.4187;AS_MQRankSum=0.720000;AS_pab_max=0.687500;AS_QUALapprox=87;AS_QD=4.35000;AS_ReadPosRankSum=-0.720000;AS_SB_TABLE=10,4|3,3;AS_SOR=0.187816;AS_VarDP=20;inbreeding_coeff=-1.43625e-05;AS_culprit=AS_MQ;AS_VQSLOD=-4.36060;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|38116|8546|3663|1019|255|81|18|1|2|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|15077|19502|10173|5332|1518|80|12|6|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.126765;cadd_phred=2.34100;phylop=-0.0390000;VRS_Allele_IDs=ga4gh:VA.V_ZnrzJGlIHCgU2KnVlfjwrdwiu3SrVH,ga4gh:VA.iGph-JYICE9f8V7IZruAfTu8KyBLNbw9;VRS_Starts=5030555,5030555;VRS_Ends=5030556,5030556;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1497G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1497G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1497G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1497G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1497G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1497G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1497G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1497G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1497G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030557	.	A	G	.	AC0;AS_VQSR	AC=0;AN=103682;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=54016;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=49666;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=13758;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=11538;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=25296;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=354;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=350;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=704;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4696;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5732;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=10428;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1322;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1128;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2450;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1514;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1868;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3382;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1892;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5304;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7196;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=110;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=94;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=204;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=28874;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=20694;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=49568;nhomalt_nfe=0;AC_raw=1;AF_raw=7.17854e-06;AN_raw=139304;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=640;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=670;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1310;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=856;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2288;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3144;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=34.9990;MQRankSum=0.736000;QUALapprox=119;QD=2.83333;ReadPosRankSum=-0.107000;SOR=0.582000;VarDP=42;AS_FS=0.00000;AS_MQ=34.9990;AS_MQRankSum=0.736000;AS_pab_max=1.00000;AS_QUALapprox=119;AS_QD=2.83333;AS_ReadPosRankSum=-0.107000;AS_SB_TABLE=15,17|5,5;AS_SOR=0.582285;AS_VarDP=42;inbreeding_coeff=-7.17860e-06;AS_culprit=AS_QD;AS_VQSLOD=-2.88580;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|38194|8559|3695|1026|260|84|19|1|3|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|15068|19605|10211|5341|1517|80|12|6|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.312333;cadd_phred=4.43200;phylop=0.609000;VRS_Allele_IDs=ga4gh:VA._Rp8yZ2kOcjiLZ0uyQ4pLq7cqm_J-sIC,ga4gh:VA.J3CzxdLZu0VR8HVlnUnjGOZL499bzFPO;VRS_Starts=5030556,5030556;VRS_Ends=5030557,5030557;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1496A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1496A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1496A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1496A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1496A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1496A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1496A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1496A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1496A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030558	rs1987113906	G	C	.	AS_VQSR	AC=1;AN=104050;AF=9.61076e-06;grpmax=sas;AC_XX=1;AF_XX=1.84488e-05;AN_XX=54204;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=49846;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=13826;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=11578;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=25404;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=350;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=348;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=698;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4712;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5772;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=10484;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1324;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1128;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2452;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1526;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1880;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3406;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1896;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5328;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7224;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=110;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=94;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=204;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=28962;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=20752;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=49714;nhomalt_nfe=0;AC_raw=1;AF_raw=7.17885e-06;AN_raw=139298;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=642;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=672;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1314;nhomalt_remaining=0;AC_sas_XX=1;AF_sas_XX=0.00116822;AN_sas_XX=856;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2294;nhomalt_sas_XY=0;AC_sas=1;AF_sas=0.000317460;AN_sas=3150;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000317460;AN_grpmax=3150;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|1|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=33.8814;MQRankSum=-1.16100;QUALapprox=505;QD=12.3171;ReadPosRankSum=-0.874000;SOR=0.765000;VarDP=41;AS_FS=0.00000;AS_MQ=33.8814;AS_MQRankSum=-1.16100;AS_pab_max=1.00000;AS_QUALapprox=505;AS_QD=12.3171;AS_ReadPosRankSum=-0.874000;AS_SB_TABLE=13,7|14,7;AS_SOR=0.764518;AS_VarDP=41;inbreeding_coeff=-7.17891e-06;AS_culprit=AS_MQ;AS_VQSLOD=-3.39640;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|38308|8591|3728|1029|263|82|20|1|2|0|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|15113|19695|10249|5349|1518|81|13|6|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.130189;cadd_phred=2.37500;phylop=0.782000;VRS_Allele_IDs=ga4gh:VA.hissgSu-JOlun-OiSI6NYGNceTV-Yvcp,ga4gh:VA.uUGIGA4AyIjk3kHKdZ43aB3Bd0gl3Gl9;VRS_Starts=5030557,5030557;VRS_Ends=5030558,5030558;VRS_States=G,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1495G>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1495G>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1495G>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1495G>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1495G>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1495G>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1495G>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1495G>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1495G>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030563	.	G	T	.	AC0;AS_VQSR	AC=0;AN=105732;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=55080;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=50652;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=14098;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=11824;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=25922;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=352;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=352;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=704;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4802;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5848;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=10650;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1352;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1148;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2500;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1566;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1948;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3514;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1910;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5424;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7334;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=110;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=100;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=210;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=29356;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=20992;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=50348;nhomalt_nfe=0;AC_raw=3;AF_raw=2.14488e-05;AN_raw=139868;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=662;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=682;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1344;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=872;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2334;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3206;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.65433;MQ=33.9534;MQRankSum=0.0670000;QUALapprox=89;QD=2.47222;ReadPosRankSum=0.198000;SOR=0.289000;VarDP=36;AS_FS=1.65433;AS_MQ=33.9534;AS_MQRankSum=0.0670000;AS_pab_max=0.453125;AS_QUALapprox=89;AS_QD=2.47222;AS_ReadPosRankSum=0.198000;AS_SB_TABLE=10,18|4,4;AS_SOR=0.289066;AS_VarDP=36;inbreeding_coeff=-2.14493e-05;AS_culprit=AS_QD;AS_VQSLOD=-3.00900;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|38929|8760|3747|1036|282|87|22|1|2|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|15086|20282|10467|5399|1530|83|12|6|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0887380;cadd_phred=1.99200;phylop=-0.0210000;VRS_Allele_IDs=ga4gh:VA.xAJO4_27_peEHnGnVHU6CSiuMOdvprV7,ga4gh:VA.uy-8_brTzgGDDOVAUdbxWByg7ZD4t9n8;VRS_Starts=5030562,5030562;VRS_Ends=5030563,5030563;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1490G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1490G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1490G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1490G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1490G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1490G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1490G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1490G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1490G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030568	rs1987114098	GACA	G	.	PASS	AC=3;AN=107262;AF=2.79689e-05;grpmax=amr;fafmax_faf95_max=6.51000e-06;fafmax_faf95_max_gen_anc=nfe;AC_XX=1;AF_XX=1.79141e-05;AN_XX=55822;nhomalt_XX=0;AC_XY=2;AF_XY=3.88802e-05;AN_XY=51440;nhomalt_XY=1;nhomalt=1;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=14326;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=12040;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=26366;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=358;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=356;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=714;nhomalt_ami=0;AC_amr_XX=1;AF_amr_XX=0.000204918;AN_amr_XX=4880;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5922;nhomalt_amr_XY=0;AC_amr=1;AF_amr=9.25754e-05;AN_amr=10802;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1368;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1170;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2538;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1612;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1990;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3602;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1926;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5534;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7460;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=108;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=100;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=208;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=29686;nhomalt_nfe_XX=0;AC_nfe_XY=2;AF_nfe_XY=9.40203e-05;AN_nfe_XY=21272;nhomalt_nfe_XY=1;AC_nfe=2;AF_nfe=3.92480e-05;AN_nfe=50958;nhomalt_nfe=1;AC_raw=3;AF_raw=2.14304e-05;AN_raw=139988;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=676;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=684;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1360;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=882;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2372;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3254;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=9.25754e-05;AN_grpmax=10802;nhomalt_grpmax=0;faf95=7.43000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=6.51000e-06;faf95_sas=0.00000;faf99=4.06000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=2.44000e-06;faf99_sas=0.00000;fafmax_faf99_max=2.44000e-06;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=2.54636;MQ=35.2553;MQRankSum=-0.708000;QUALapprox=1020;QD=21.7021;ReadPosRankSum=0.198000;SOR=0.487000;VarDP=47;AS_FS=2.64775;AS_MQ=34.8463;AS_MQRankSum=-0.708000;AS_pab_max=1.00000;AS_QUALapprox=961;AS_QD=28.2647;AS_ReadPosRankSum=0.0310000;AS_SB_TABLE=8,12|12,11;AS_SOR=0.502532;AS_VarDP=34;inbreeding_coeff=0.666660;AS_culprit=AS_MQRankSum;AS_VQSLOD=0.492300;negative_train_site;allele_type=del;n_alt_alleles=3;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|39390|8923|3797|1071|304|109|33|2|1|0|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|1|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|15166|20757|10627|5435|1542|85|12|6|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0823540;cadd_phred=0.902000;pangolin_largest_ds=0.00000;phylop=-0.559000;VRS_Allele_IDs=ga4gh:VA.ow1pIgcICjm8pjGWfVmfyraCJvNQNcof,ga4gh:VA.FmSwhpdJ8lc-oJymIXzy6w5SQUVe-iSq;VRS_Starts=5030567,5030568;VRS_Ends=5030571,5030574;VRS_States=GACA,ACA;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1481_698-1479del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1481_347-1479del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1481_347-1479del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1481_*312-1479del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1481_698-1479del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1481_698-1479del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1481_698-1479del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1481_698-1479del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1481_698-1479del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030569	rs1987114042	A	G	.	AS_VQSR	AC=1;AN=107170;AF=9.33097e-06;grpmax=amr;AC_XX=1;AF_XX=1.79269e-05;AN_XX=55782;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=51388;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=14330;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=12008;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=26338;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=358;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=356;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=714;nhomalt_ami=0;AC_amr_XX=1;AF_amr_XX=0.000204918;AN_amr_XX=4880;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5922;nhomalt_amr_XY=0;AC_amr=1;AF_amr=9.25754e-05;AN_amr=10802;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1360;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1164;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2524;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1614;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1998;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3612;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1930;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5520;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7450;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=110;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=100;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=210;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=29642;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=21274;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=50916;nhomalt_nfe=0;AC_raw=3;AF_raw=2.14365e-05;AN_raw=139948;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=676;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=686;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1362;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=882;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2360;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3242;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=9.25754e-05;AN_grpmax=10802;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=4.08967;MQ=34.1380;MQRankSum=-1.06100;QUALapprox=392;QD=7.39623;ReadPosRankSum=0.00000;SOR=1.23600;VarDP=53;AS_FS=4.08967;AS_MQ=34.1380;AS_MQRankSum=-1.06100;AS_pab_max=1.00000;AS_QUALapprox=392;AS_QD=7.39623;AS_ReadPosRankSum=0.00000;AS_SB_TABLE=18,16|7,12;AS_SOR=1.23581;AS_VarDP=53;inbreeding_coeff=-2.14370e-05;AS_culprit=AS_MQ;AS_VQSLOD=-2.72790;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|39418|8915|3776|1067|295|90|21|1|1|0|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|15074|20770|10653|5438|1545|85|13|6|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.107915;cadd_phred=2.16300;pangolin_largest_ds=0.00000;phylop=-0.122000;VRS_Allele_IDs=ga4gh:VA.pbT2OGnRo824NTgQgnFI4UbaTUYMgPz9,ga4gh:VA.B1qJ4-x0EdXcMQ73IwP-aZAXsYBojlj0;VRS_Starts=5030568,5030568;VRS_Ends=5030569,5030569;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1484A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1484A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1484A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1484A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1484A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1484A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1484A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1484A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1484A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030578	rs1290904024	C	T	.	AS_VQSR	AC=1181;AN=109384;AF=0.0107968;grpmax=afr;fafmax_faf95_max=0.0397378;fafmax_faf95_max_gen_anc=afr;AC_XX=598;AF_XX=0.0105267;AN_XX=56808;nhomalt_XX=68;AC_XY=583;AF_XY=0.0110887;AN_XY=52576;nhomalt_XY=73;nhomalt=141;AC_afr_XX=568;AF_afr_XX=0.0387872;AN_afr_XX=14644;nhomalt_afr_XX=65;AC_afr_XY=560;AF_afr_XY=0.0452855;AN_afr_XY=12366;nhomalt_afr_XY=71;AC_afr=1128;AF_afr=0.0417623;AN_afr=27010;nhomalt_afr=136;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=364;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=370;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=734;nhomalt_ami=0;AC_amr_XX=17;AF_amr_XX=0.00340545;AN_amr_XX=4992;nhomalt_amr_XX=1;AC_amr_XY=12;AF_amr_XY=0.00197044;AN_amr_XY=6090;nhomalt_amr_XY=0;AC_amr=29;AF_amr=0.00261686;AN_amr=11082;nhomalt_amr=1;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1382;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1180;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2562;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1646;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2066;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3712;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1952;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5624;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7576;nhomalt_fin=0;AC_mid_XX=3;AF_mid_XX=0.0294118;AN_mid_XX=102;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=102;nhomalt_mid_XY=0;AC_mid=3;AF_mid=0.0147059;AN_mid=204;nhomalt_mid=0;AC_nfe_XX=8;AF_nfe_XX=0.000265446;AN_nfe_XX=30138;nhomalt_nfe_XX=2;AC_nfe_XY=6;AF_nfe_XY=0.000277059;AN_nfe_XY=21656;nhomalt_nfe_XY=1;AC_nfe=14;AF_nfe=0.000270302;AN_nfe=51794;nhomalt_nfe=3;AC_raw=1630;AF_raw=0.0116407;AN_raw=140026;nhomalt_raw=306;AC_remaining_XX=2;AF_remaining_XX=0.00288184;AN_remaining_XX=694;nhomalt_remaining_XX=0;AC_remaining_XY=3;AF_remaining_XY=0.00421348;AN_remaining_XY=712;nhomalt_remaining_XY=0;AC_remaining=5;AF_remaining=0.00355619;AN_remaining=1406;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=894;nhomalt_sas_XX=0;AC_sas_XY=2;AF_sas_XY=0.000829876;AN_sas_XY=2410;nhomalt_sas_XY=1;AC_sas=2;AF_sas=0.000605327;AN_sas=3304;nhomalt_sas=1;AC_grpmax=1128;AF_grpmax=0.0417623;AN_grpmax=27010;nhomalt_grpmax=136;faf95=0.0102849;faf95_afr=0.0397378;faf95_amr=0.00187177;faf95_eas=0.00000;faf95_nfe=0.000163210;faf95_sas=0.000106880;faf99=0.0100792;faf99_afr=0.0389232;faf99_amr=0.00162006;faf99_eas=0.00000;faf99_nfe=0.000130010;faf99_sas=4.47800e-05;fafmax_faf99_max=0.0389232;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=24|17|15|37|41|43|30|36|24|11;age_hist_het_n_smaller=90;age_hist_het_n_larger=5;age_hist_hom_bin_freq=5|4|6|9|7|9|9|3|2|2;age_hist_hom_n_smaller=10;age_hist_hom_n_larger=0;FS=1.92865e-15;MQ=33.4574;MQRankSum=-0.387000;QUALapprox=801028;QD=19.9758;ReadPosRankSum=0.231000;SOR=0.719000;VarDP=40100;AS_FS=1.92865e-15;AS_MQ=33.4527;AS_MQRankSum=-0.386000;AS_pab_max=1.00000;AS_QUALapprox=800193;AS_QD=19.9863;AS_ReadPosRankSum=0.215000;AS_SB_TABLE=8323,8324|11858,11564;AS_SOR=0.718449;AS_VarDP=40037;inbreeding_coeff=0.368104;AS_culprit=AS_MQ;AS_VQSLOD=-2.91550;negative_train_site;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|5|7|62|30|15|11|17|10|11|12|7|9|8|13|11|802;gq_hist_all_bin_freq=0|0|0|0|39634|8913|3733|1042|286|103|35|11|13|12|7|9|8|13|11|802;dp_hist_alt_bin_freq=0|0|393|317|206|78|32|4|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14798|21496|11057|5578|1589|92|14|6|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|13|38|53|71|110|78|170|88|110|68|30|31|27|6|0|0;cadd_raw_score=-0.0320600;cadd_phred=1.14700;phylop=-0.885000;VRS_Allele_IDs=ga4gh:VA.C_V01cnuzuttJ6O-T-1AeAvA89OuL2au,ga4gh:VA.Gv7EhltgYDcgiEaihgcjmBccS7quAn_c;VRS_Starts=5030577,5030577;VRS_Ends=5030578,5030578;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1475C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1475C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1475C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1475C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1475C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1475C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1475C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1475C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1475C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030579	rs1204602945	G	A	.	AS_VQSR	AC=14;AN=110414;AF=0.000126796;grpmax=eas;fafmax_faf95_max=0.000218250;fafmax_faf95_max_gen_anc=eas;AC_XX=7;AF_XX=0.000122143;AN_XX=57310;nhomalt_XX=0;AC_XY=7;AF_XY=0.000131817;AN_XY=53104;nhomalt_XY=2;nhomalt=2;AC_afr_XX=5;AF_afr_XX=0.000336791;AN_afr_XX=14846;nhomalt_afr_XX=0;AC_afr_XY=1;AF_afr_XY=7.93021e-05;AN_afr_XY=12610;nhomalt_afr_XY=0;AC_afr=6;AF_afr=0.000218531;AN_afr=27456;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=366;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=370;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=736;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5012;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6084;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11096;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1396;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1196;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2592;nhomalt_asj=0;AC_eas_XX=1;AF_eas_XX=0.000604595;AN_eas_XX=1654;nhomalt_eas_XX=0;AC_eas_XY=2;AF_eas_XY=0.000959693;AN_eas_XY=2084;nhomalt_eas_XY=0;AC_eas=3;AF_eas=0.000802568;AN_eas=3738;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1974;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5684;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7658;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=104;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=106;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=210;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=3.29489e-05;AN_nfe_XX=30350;nhomalt_nfe_XX=0;AC_nfe_XY=4;AF_nfe_XY=0.000183436;AN_nfe_XY=21806;nhomalt_nfe_XY=2;AC_nfe=5;AF_nfe=9.58662e-05;AN_nfe=52156;nhomalt_nfe=2;AC_raw=18;AF_raw=0.000128074;AN_raw=140544;nhomalt_raw=3;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=708;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=718;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1426;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=900;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2446;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3346;nhomalt_sas=0;AC_grpmax=3;AF_grpmax=0.000802568;AN_grpmax=3738;nhomalt_grpmax=0;faf95=7.64000e-05;faf95_afr=9.51400e-05;faf95_amr=0.00000;faf95_eas=0.000218250;faf95_nfe=3.75200e-05;faf95_sas=0.00000;faf99=6.13600e-05;faf99_afr=6.42300e-05;faf99_amr=0.00000;faf99_eas=0.000115770;faf99_nfe=2.43000e-05;faf99_sas=0.00000;fafmax_faf99_max=0.000115770;fafmax_faf99_max_gen_anc=eas;age_hist_het_bin_freq=0|0|0|1|0|0|3|0|0|0;age_hist_het_n_smaller=2;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|1|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=14.3331;MQ=32.3635;MQRankSum=-0.158000;QUALapprox=4099;QD=13.6179;ReadPosRankSum=0.560000;SOR=1.11500;VarDP=301;AS_FS=14.3331;AS_MQ=32.3635;AS_MQRankSum=-0.158000;AS_pab_max=1.00000;AS_QUALapprox=4099;AS_QD=13.6179;AS_ReadPosRankSum=0.560000;AS_SB_TABLE=74,67|64,96;AS_SOR=1.11482;AS_VarDP=301;inbreeding_coeff=0.333248;AS_culprit=AS_MQ;AS_VQSLOD=-3.00130;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|1|0|0|0|1|1|0|0|0|1|0|0|1|0|0|7;gq_hist_all_bin_freq=0|0|0|0|40133|9162|3906|1184|347|171|87|34|35|34|6|16|10|3|4|13;dp_hist_alt_bin_freq=0|0|6|4|2|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14888|21735|11131|5648|1622|98|15|6|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|0|2|1|1|0|1|2|0|2|0|0|0|0|0|0;cadd_raw_score=-0.148685;cadd_phred=0.657000;phylop=-1.85000;VRS_Allele_IDs=ga4gh:VA.H0qmqQay1CbPR34wOQ2NKz9oPcLevWFS,ga4gh:VA.H3mf7eXAsj4sgmqEx7gkgQ1twONrr0ZK;VRS_Starts=5030578,5030578;VRS_Ends=5030579,5030579;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1474G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1474G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1474G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1474G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1474G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1474G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1474G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1474G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1474G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030582	rs1348696323	A	T	.	AS_VQSR	AC=3;AN=109686;AF=2.73508e-05;grpmax=nfe;fafmax_faf95_max=6.38000e-06;fafmax_faf95_max_gen_anc=nfe;AC_XX=3;AF_XX=5.25984e-05;AN_XX=57036;nhomalt_XX=1;AC_XY=0;AF_XY=0.00000;AN_XY=52650;nhomalt_XY=0;nhomalt=1;AC_afr_XX=1;AF_afr_XX=6.80828e-05;AN_afr_XX=14688;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=12346;nhomalt_afr_XY=0;AC_afr=1;AF_afr=3.69905e-05;AN_afr=27034;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=366;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=370;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=736;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4972;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6048;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11020;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1392;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1184;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2576;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1666;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2068;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3734;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1982;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5668;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7650;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=114;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=108;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=222;nhomalt_mid=0;AC_nfe_XX=2;AF_nfe_XX=6.60895e-05;AN_nfe_XX=30262;nhomalt_nfe_XX=1;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=21722;nhomalt_nfe_XY=0;AC_nfe=2;AF_nfe=3.84734e-05;AN_nfe=51984;nhomalt_nfe=1;AC_raw=3;AF_raw=2.15038e-05;AN_raw=139510;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=688;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=708;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1396;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=906;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2428;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3334;nhomalt_sas=0;AC_grpmax=2;AF_grpmax=3.84734e-05;AN_grpmax=51984;nhomalt_grpmax=1;faf95=7.27000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=6.38000e-06;faf95_sas=0.00000;faf99=3.02000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=2.39000e-06;faf99_sas=0.00000;fafmax_faf99_max=2.39000e-06;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=10.2641;MQ=34.2897;MQRankSum=1.34300;QUALapprox=1551;QD=13.4870;ReadPosRankSum=0.107000;SOR=0.951000;VarDP=115;AS_FS=10.6744;AS_MQ=34.7422;AS_MQRankSum=1.34300;AS_pab_max=0.845019;AS_QUALapprox=1497;AS_QD=17.8214;AS_ReadPosRankSum=0.0710000;AS_SB_TABLE=23,31|33,22;AS_SOR=1.01078;AS_VarDP=84;inbreeding_coeff=0.666659;AS_culprit=AS_MQ;AS_VQSLOD=-3.39470;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|40129|9068|3746|1157|341|169|86|34|36|32|6|16|9|3|4|7;dp_hist_alt_bin_freq=0|0|1|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14309|21926|11188|5668|1630|99|15|6|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0;cadd_raw_score=0.251975;cadd_phred=3.72700;phylop=0.609000;VRS_Allele_IDs=ga4gh:VA.Rfg2R3GUH_pfIH1QlMkxbb9TvPOU56iC,ga4gh:VA.EahHF-_JJmEyH5PHwR42yEfZJfzvHhHD;VRS_Starts=5030581,5030581;VRS_Ends=5030582,5030582;VRS_States=A,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1471A>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1471A>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1471A>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1471A>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1471A>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1471A>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1471A>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1471A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1471A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030586	.	C	T	.	AC0;AS_VQSR	AC=0;AN=112242;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=58312;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=53930;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=15222;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=12740;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=27962;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=372;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=370;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=742;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5086;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6172;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11258;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1408;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1206;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2614;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1696;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2146;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3842;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2006;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5832;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7838;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=116;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=110;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=226;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=30788;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=22134;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=52922;nhomalt_nfe=0;AC_raw=1;AF_raw=7.10389e-06;AN_raw=140768;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=702;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=722;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1424;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=916;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2498;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3414;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=5.37907;MQ=29.4567;MQRankSum=0.736000;QUALapprox=124;QD=6.20000;ReadPosRankSum=0.736000;SOR=0.669000;VarDP=20;AS_FS=6.10660;AS_MQ=30.4490;AS_MQRankSum=2.00300;AS_pab_max=1.00000;AS_QUALapprox=93;AS_QD=6.64286;AS_ReadPosRankSum=0.736000;AS_SB_TABLE=4,11|2,1;AS_SOR=0.885259;AS_VarDP=14;inbreeding_coeff=-7.10394e-06;AS_culprit=AS_MQ;AS_VQSLOD=-2.54410;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|40852|9369|3935|1196|362|174|88|34|35|32|6|16|9|3|4|6;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14711|22584|11362|5704|1637|99|16|6|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.00968200;cadd_phred=1.27600;phylop=-0.950000;VRS_Allele_IDs=ga4gh:VA.iubxDrKjjmJKqImd3jlfA-3oA55An-Ot,ga4gh:VA.PT_0U_xxgnnwdI6hSe4dk22RRaQQMWx1;VRS_Starts=5030585,5030585;VRS_Ends=5030586,5030586;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1467C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1467C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1467C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1467C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1467C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1467C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1467C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1467C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1467C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030587	.	T	G	.	AC0;AS_VQSR	AC=0;AN=112378;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=58320;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=54058;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=15210;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=12804;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=28014;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=368;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=370;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=738;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5098;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6192;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11290;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1416;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1206;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2622;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1706;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2158;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3864;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2004;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5848;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7852;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=118;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=112;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=230;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=30788;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=22146;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=52934;nhomalt_nfe=0;AC_raw=1;AF_raw=7.10813e-06;AN_raw=140684;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=700;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=716;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1416;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=912;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2506;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3418;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=7.41568;MQ=32.0177;MQRankSum=1.18200;QUALapprox=185;QD=6.16667;ReadPosRankSum=0.736000;SOR=0.539000;VarDP=30;AS_FS=6.66785;AS_MQ=30.4490;AS_MQRankSum=2.00300;AS_pab_max=1.00000;AS_QUALapprox=93;AS_QD=6.64286;AS_ReadPosRankSum=0.736000;AS_SB_TABLE=6,17|2,1;AS_SOR=0.875983;AS_VarDP=14;inbreeding_coeff=-7.10818e-06;AS_culprit=AS_MQ;AS_VQSLOD=-2.52850;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|40918|9370|3947|1201|353|168|89|34|33|32|6|16|9|3|4|6;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14686|22642|11391|5710|1636|99|17|6|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.164663;cadd_phred=0.608000;phylop=-1.17900;VRS_Allele_IDs=ga4gh:VA.XV15Yc3q_zpYUKYyA5-THHmNBToRAygn,ga4gh:VA.0EGLfDRkl-4zcCgeeHXiLJ7b59hXs_g7;VRS_Starts=5030586,5030586;VRS_Ends=5030587,5030587;VRS_States=T,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1466T>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1466T>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1466T>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1466T>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1466T>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1466T>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1466T>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1466T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1466T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030588	rs1288068171	T	C	.	AS_VQSR	AC=719;AN=112552;AF=0.00638816;grpmax=afr;fafmax_faf95_max=0.0225280;fafmax_faf95_max_gen_anc=afr;AC_XX=373;AF_XX=0.00639049;AN_XX=58368;nhomalt_XX=40;AC_XY=346;AF_XY=0.00638565;AN_XY=54184;nhomalt_XY=34;nhomalt=74;AC_afr_XX=351;AF_afr_XX=0.0230557;AN_afr_XX=15224;nhomalt_afr_XX=38;AC_afr_XY=325;AF_afr_XY=0.0251743;AN_afr_XY=12910;nhomalt_afr_XY=32;AC_afr=676;AF_afr=0.0240279;AN_afr=28134;nhomalt_afr=70;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=372;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=372;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=744;nhomalt_ami=0;AC_amr_XX=11;AF_amr_XX=0.00215433;AN_amr_XX=5106;nhomalt_amr_XX=0;AC_amr_XY=11;AF_amr_XY=0.00177936;AN_amr_XY=6182;nhomalt_amr_XY=0;AC_amr=22;AF_amr=0.00194897;AN_amr=11288;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1414;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1212;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2626;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1704;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2142;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3846;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2006;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5828;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7834;nhomalt_fin=0;AC_mid_XX=3;AF_mid_XX=0.0277778;AN_mid_XX=108;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=110;nhomalt_mid_XY=0;AC_mid=3;AF_mid=0.0137615;AN_mid=218;nhomalt_mid=0;AC_nfe_XX=8;AF_nfe_XX=0.000259656;AN_nfe_XX=30810;nhomalt_nfe_XX=2;AC_nfe_XY=6;AF_nfe_XY=0.000270587;AN_nfe_XY=22174;nhomalt_nfe_XY=1;AC_nfe=14;AF_nfe=0.000264231;AN_nfe=52984;nhomalt_nfe=3;AC_raw=945;AF_raw=0.00672100;AN_raw=140604;nhomalt_raw=160;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=724;nhomalt_remaining_XX=0;AC_remaining_XY=2;AF_remaining_XY=0.00270270;AN_remaining_XY=740;nhomalt_remaining_XY=0;AC_remaining=2;AF_remaining=0.00136612;AN_remaining=1464;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=900;nhomalt_sas_XX=0;AC_sas_XY=2;AF_sas_XY=0.000795545;AN_sas_XY=2514;nhomalt_sas_XY=1;AC_sas=2;AF_sas=0.000585823;AN_sas=3414;nhomalt_sas=1;AC_grpmax=676;AF_grpmax=0.0240279;AN_grpmax=28134;nhomalt_grpmax=70;faf95=0.00600134;faf95_afr=0.0225280;faf95_amr=0.00131937;faf95_eas=0.00000;faf95_nfe=0.000159710;faf95_sas=0.000103730;faf99=0.00584639;faf99_afr=0.0219296;faf99_amr=0.00111346;faf99_eas=0.00000;faf99_nfe=0.000127280;faf99_sas=4.26100e-05;fafmax_faf99_max=0.0219296;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=13|8|9|22|27|28|16|26|16|5;age_hist_het_n_smaller=61;age_hist_het_n_larger=5;age_hist_hom_bin_freq=3|2|4|6|6|3|2|1|0|1;age_hist_hom_n_smaller=8;age_hist_hom_n_larger=0;FS=0.00000;MQ=33.6957;MQRankSum=-0.377000;QUALapprox=557903;QD=22.6155;ReadPosRankSum=0.270000;SOR=0.706000;VarDP=24669;AS_FS=0.00000;AS_MQ=33.6957;AS_MQRankSum=-0.380000;AS_pab_max=1.00000;AS_QUALapprox=557903;AS_QD=22.6155;AS_ReadPosRankSum=0.249000;AS_SB_TABLE=4928,5280|6936,7525;AS_SOR=0.705740;AS_VarDP=24669;inbreeding_coeff=0.334149;AS_culprit=AS_MQ;AS_VQSLOD=-2.88630;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|2|7|26|14|6|11|9|2|9|2|1|2|4|3|6|529;gq_hist_all_bin_freq=0|0|0|0|40913|9326|3826|1111|316|124|36|5|9|3|1|2|4|3|6|529;dp_hist_alt_bin_freq=0|0|206|200|137|59|27|3|1|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14538|22756|11448|5714|1637|96|17|6|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|6|18|40|38|74|47|91|68|72|39|23|15|18|6|7|0;cadd_raw_score=0.307151;cadd_phred=4.37200;phylop=0.611000;VRS_Allele_IDs=ga4gh:VA.YErUYkDq_CxGt5UOCy40XzVhzaEVpoD0,ga4gh:VA.rAaBcy2zJUBdhU-KVPf9YU3eFe1GZync;VRS_Starts=5030587,5030587;VRS_Ends=5030588,5030588;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1465T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1465T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1465T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1465T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1465T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1465T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1465T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1465T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1465T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030596	rs1240697080	A	G	.	AS_VQSR	AC=5;AN=114746;AF=4.35745e-05;grpmax=afr;fafmax_faf95_max=6.79000e-05;fafmax_faf95_max_gen_anc=afr;AC_XX=2;AF_XX=3.36361e-05;AN_XX=59460;nhomalt_XX=0;AC_XY=3;AF_XY=5.42633e-05;AN_XY=55286;nhomalt_XY=0;nhomalt=0;AC_afr_XX=2;AF_afr_XX=0.000127779;AN_afr_XX=15652;nhomalt_afr_XX=0;AC_afr_XY=3;AF_afr_XY=0.000225666;AN_afr_XY=13294;nhomalt_afr_XY=0;AC_afr=5;AF_afr=0.000172735;AN_afr=28946;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=378;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=372;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=750;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5164;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6352;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11516;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1438;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1232;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2670;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1746;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2188;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3934;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2042;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5970;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8012;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=108;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=112;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=220;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=31264;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=22436;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=53700;nhomalt_nfe=0;AC_raw=7;AF_raw=4.96898e-05;AN_raw=140874;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=744;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=754;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1498;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=924;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2576;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3500;nhomalt_sas=0;AC_grpmax=5;AF_grpmax=0.000172735;AN_grpmax=28946;nhomalt_grpmax=0;faf95=1.67400e-05;faf95_afr=6.79000e-05;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=1.02500e-05;faf99_afr=4.35000e-05;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=4.35000e-05;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=26.5417;MQ=29.2721;MQRankSum=-0.193000;QUALapprox=2284;QD=11.3069;ReadPosRankSum=0.536000;SOR=2.07000;VarDP=202;AS_FS=26.5417;AS_MQ=29.2721;AS_MQRankSum=-0.193000;AS_pab_max=1.00000;AS_QUALapprox=2284;AS_QD=11.3069;AS_ReadPosRankSum=0.536000;AS_SB_TABLE=44,64|19,75;AS_SOR=2.06951;AS_VarDP=202;inbreeding_coeff=-4.96923e-05;AS_culprit=AS_MQ;AS_VQSLOD=-2.82740;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|5;gq_hist_all_bin_freq=0|0|0|0|41914|9684|4032|1158|340|137|32|8|1|1|0|0|0|0|0|5;dp_hist_alt_bin_freq=0|0|2|1|2|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14681|23391|11626|5804|1685|100|16|7|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|1|0|2|0|1|0|1|0|0|0|0|0|0|0;cadd_raw_score=0.280912;cadd_phred=4.06600;phylop=-0.897000;VRS_Allele_IDs=ga4gh:VA.VxDX3crNbz1b6GBTWNPl_xdZdtL9qDKp,ga4gh:VA.mcypXXuJTOcZVCGTTjqbKpFXCfCRlRMY;VRS_Starts=5030595,5030595;VRS_Ends=5030596,5030596;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1457A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1457A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1457A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1457A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1457A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1457A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1457A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1457A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1457A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030598	.	A	G	.	AC0;AS_VQSR	AC=0;AN=115044;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=59628;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=55416;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=15714;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=13284;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=28998;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=370;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=374;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=744;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5182;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6328;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11510;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1416;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1222;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2638;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1752;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2198;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3950;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2048;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6014;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8062;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=120;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=114;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=234;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=31366;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=22532;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=53898;nhomalt_nfe=0;AC_raw=1;AF_raw=7.10671e-06;AN_raw=140712;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=726;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=756;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1482;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=934;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2594;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3528;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=2.04568;MQ=33.5302;MQRankSum=1.58900;QUALapprox=81;QD=3.68182;ReadPosRankSum=0.00000;SOR=0.223000;VarDP=22;AS_FS=2.04568;AS_MQ=33.5302;AS_MQRankSum=1.58900;AS_pab_max=1.00000;AS_QUALapprox=81;AS_QD=3.68182;AS_ReadPosRankSum=0.00000;AS_SB_TABLE=5,11|3,3;AS_SOR=0.223144;AS_VarDP=22;inbreeding_coeff=-7.10676e-06;AS_culprit=AS_QD;AS_VQSLOD=-3.22810;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|42079|9715|4046|1156|342|142|30|10|1|1|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14654|23569|11676|5811|1687|100|16|7|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0919200;cadd_phred=2.02000;phylop=0.609000;VRS_Allele_IDs=ga4gh:VA.FTuMQGshrCjD4zG2R9ZqBk2aO36W0XFW,ga4gh:VA.BU8VXFjkM9-gwppuzrFEDn7SywmCBdO9;VRS_Starts=5030597,5030597;VRS_Ends=5030598,5030598;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1455A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1455A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1455A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1455A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1455A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1455A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1455A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1455A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1455A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030599	.	C	A	.	AC0;AS_VQSR	AC=0;AN=115490;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=59872;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=55618;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=15826;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=13412;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=29238;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=380;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=370;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=750;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5198;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6350;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11548;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1432;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1228;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2660;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1764;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2202;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3966;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2060;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6028;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8088;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=118;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=114;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=232;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=31420;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=22560;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=53980;nhomalt_nfe=0;AC_raw=2;AF_raw=1.41935e-05;AN_raw=140910;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=732;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=754;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1486;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=942;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2600;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3542;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=11.0755;MQ=36.6937;MQRankSum=0.693000;QUALapprox=1382;QD=8.47853;ReadPosRankSum=-0.315000;SOR=0.951000;VarDP=163;AS_FS=6.49023;AS_MQ=36.3111;AS_MQRankSum=0.693000;AS_pab_max=1.00000;AS_QUALapprox=447;AS_QD=3.63415;AS_ReadPosRankSum=-0.736000;AS_SB_TABLE=51,68|12,8;AS_SOR=0.976206;AS_VarDP=123;inbreeding_coeff=-1.41937e-05;AS_culprit=AS_QD;AS_VQSLOD=-2.88630;allele_type=snv;n_alt_alleles=3;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|42235|9757|4121|1146|336|119|23|6|1|1|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14787|23629|11699|5817|1688|99|17|7|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0372210;cadd_phred=1.58600;phylop=-0.768000;VRS_Allele_IDs=ga4gh:VA.RZtnjXWGDrnHgjWNCh2dbNnicyOGMh0J,ga4gh:VA.avhnLXuf0dLNOoTu--4z_j0PYT0-pr1i;VRS_Starts=5030598,5030598;VRS_Ends=5030599,5030599;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1454C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1454C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1454C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1454C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1454C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1454C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1454C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1454C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1454C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030601	rs1370167485	T	TA	.	PASS	AC=20;AN=115294;AF=0.000173470;grpmax=nfe;fafmax_faf95_max=0.000214820;fafmax_faf95_max_gen_anc=nfe;AC_XX=14;AF_XX=0.000234169;AN_XX=59786;nhomalt_XX=2;AC_XY=6;AF_XY=0.000108093;AN_XY=55508;nhomalt_XY=0;nhomalt=2;AC_afr_XX=1;AF_afr_XX=6.34840e-05;AN_afr_XX=15752;nhomalt_afr_XX=0;AC_afr_XY=1;AF_afr_XY=7.49625e-05;AN_afr_XY=13340;nhomalt_afr_XY=0;AC_afr=2;AF_afr=6.87474e-05;AN_afr=29092;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=370;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=378;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=748;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5202;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6362;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11564;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1442;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1230;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2672;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1764;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2200;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3964;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2070;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5992;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8062;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=118;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=114;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=232;nhomalt_mid=0;AC_nfe_XX=13;AF_nfe_XX=0.000414145;AN_nfe_XX=31390;nhomalt_nfe_XX=2;AC_nfe_XY=5;AF_nfe_XY=0.000221966;AN_nfe_XY=22526;nhomalt_nfe_XY=0;AC_nfe=18;AF_nfe=0.000333853;AN_nfe=53916;nhomalt_nfe=2;AC_raw=22;AF_raw=0.000156528;AN_raw=140550;nhomalt_raw=3;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=738;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=764;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1502;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=940;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2602;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3542;nhomalt_sas=0;AC_grpmax=18;AF_grpmax=0.000333853;AN_grpmax=53916;nhomalt_grpmax=2;faf95=0.000114020;faf95_afr=1.13800e-05;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.000214820;faf95_sas=0.00000;faf99=9.57800e-05;faf99_afr=4.26000e-06;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.000178190;faf99_sas=0.00000;fafmax_faf99_max=0.000178190;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|1|0|0|2|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|1|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=8.01736;MQ=38.5022;MQRankSum=0.268000;QUALapprox=17248;QD=17.2826;ReadPosRankSum=-0.420000;SOR=0.947000;VarDP=998;AS_FS=5.93343;AS_MQ=38.3234;AS_MQRankSum=-0.320000;AS_pab_max=1.00000;AS_QUALapprox=15070;AS_QD=19.3951;AS_ReadPosRankSum=-0.354000;AS_SB_TABLE=215,241|258,198;AS_SOR=0.912519;AS_VarDP=777;inbreeding_coeff=0.272613;AS_culprit=AS_FS;AS_VQSLOD=0.805200;allele_type=ins;n_alt_alleles=3;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|1|1|0|0|0|0|0|0|0|1|0|0|0|15;gq_hist_all_bin_freq=0|0|0|0|42217|9726|4028|1148|343|130|30|5|3|1|0|1|0|0|0|15;dp_hist_alt_bin_freq=0|0|2|1|3|8|3|1|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14503|23739|11752|5839|1691|98|16|6|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|1|2|4|2|2|2|2|0|0|1|0|0|0;cadd_raw_score=-0.0326600;cadd_phred=1.14400;pangolin_largest_ds=0.00000;phylop=-0.119000;VRS_Allele_IDs=ga4gh:VA.vHSiX6zLvotyRk6kjASTXmHLX3PUZJ5O,ga4gh:VA.iKEA1mUqiNtXVSdEL3Lou8dYghivH4-d;VRS_Starts=5030600,5030601;VRS_Ends=5030601,5030602;VRS_States=T,AA;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1451dup|||||||1||1||insertion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1451dup|||||||1||1||insertion||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1451dup|||||||1||1||insertion||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1451dup|||||||1||1||insertion||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1451dup|||||||1||1||insertion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1451dup|||||||1||1||insertion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1451dup|||||||1||1||insertion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1451dup|||||||1||1||insertion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1451dup|||||||1||1||insertion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030602	.	A	G	.	AC0	AC=0;AN=116200;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=60196;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=56004;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=15948;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=13524;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=29472;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=380;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=378;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=758;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5210;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6412;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11622;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1444;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1234;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2678;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1774;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2224;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3998;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2078;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6084;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8162;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=122;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=116;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=238;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=31564;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=22648;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=54212;nhomalt_nfe=0;AC_raw=1;AF_raw=7.09411e-06;AN_raw=140962;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=740;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=766;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1506;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=936;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2618;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3554;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=39.2954;MQRankSum=1.06700;QUALapprox=70;QD=3.04348;ReadPosRankSum=0.594000;SOR=0.602000;VarDP=23;AS_FS=0.00000;AS_MQ=39.2954;AS_MQRankSum=1.06700;AS_pab_max=0.289063;AS_QUALapprox=70;AS_QD=3.04348;AS_ReadPosRankSum=0.594000;AS_SB_TABLE=10,9|2,2;AS_SOR=0.602372;AS_VarDP=23;inbreeding_coeff=-7.09416e-06;AS_culprit=AS_QD;AS_VQSLOD=-2.03540;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|42444|9861|4111|1168|346|129|33|5|2|1|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14766|23888|11787|5844|1690|98|17|6|4|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.266982;cadd_phred=3.90300;phylop=0.609000;VRS_Allele_IDs=ga4gh:VA.WfLy6maaxiAdV0Ny9hRukjDiCDh7hZXW,ga4gh:VA.8vRfirqAzlai2N8dAtFFn7QpgprPywe6;VRS_Starts=5030601,5030601;VRS_Ends=5030602,5030602;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1451A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1451A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1451A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1451A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1451A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1451A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1451A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1451A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1451A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030614	.	C	T	.	AC0	AC=0;AN=118552;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=61322;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=57230;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16428;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=13924;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30352;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=388;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=380;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=768;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5330;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6560;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11890;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1466;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1252;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2718;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1822;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2270;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4092;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2132;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6250;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8382;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=120;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=118;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=238;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=31916;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=22994;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=54910;nhomalt_nfe=0;AC_raw=4;AF_raw=2.83543e-05;AN_raw=141072;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=752;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=790;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1542;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=968;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2692;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3660;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=10.8144;MQ=34.0528;MQRankSum=1.58900;QUALapprox=252;QD=6.81081;ReadPosRankSum=0.731000;SOR=0.863000;VarDP=37;AS_FS=10.8144;AS_MQ=34.0528;AS_MQRankSum=1.58900;AS_pab_max=0.375000;AS_QUALapprox=252;AS_QD=6.81081;AS_ReadPosRankSum=0.731000;AS_SB_TABLE=7,22|5,3;AS_SOR=0.863305;AS_VarDP=37;inbreeding_coeff=0.499986;AS_culprit=AS_MQ;AS_VQSLOD=-2.07280;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|43401|10094|4055|1210|348|128|32|5|2|1|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14730|24780|12033|5902|1706|97|17|8|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.138381;cadd_phred=2.45600;phylop=-1.15200;VRS_Allele_IDs=ga4gh:VA.uMvTE4S_N3UWLAIph4upcBL6THpBp4DW,ga4gh:VA.kdJlnfNsadq2GIlZqKor2oIwFAa-hDhK;VRS_Starts=5030613,5030613;VRS_Ends=5030614,5030614;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1439C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1439C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1439C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1439C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1439C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1439C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1439C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1439C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1439C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030615	rs1442870977	A	C	.	AS_VQSR	AC=1;AN=118742;AF=8.42162e-06;AC_XX=0;AF_XX=0.00000;AN_XX=61392;nhomalt_XX=0;AC_XY=1;AF_XY=1.74368e-05;AN_XY=57350;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16432;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=13914;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30346;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=386;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=380;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=766;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5360;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6584;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11944;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1472;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1260;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2732;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1808;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2262;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4070;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2140;nhomalt_fin_XX=0;AC_fin_XY=1;AF_fin_XY=0.000159185;AN_fin_XY=6282;nhomalt_fin_XY=0;AC_fin=1;AF_fin=0.000118737;AN_fin=8422;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=124;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=118;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=242;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=31952;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23038;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=54990;nhomalt_nfe=0;AC_raw=3;AF_raw=2.12531e-05;AN_raw=141156;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=748;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=792;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1540;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=970;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2720;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3690;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=3.63922;MQ=35.0076;MQRankSum=0.696000;QUALapprox=1107;QD=8.32331;ReadPosRankSum=-0.551000;SOR=0.418000;VarDP=133;AS_FS=0.902342;AS_MQ=35.2700;AS_MQRankSum=-2.87800;AS_pab_max=0.301758;AS_QUALapprox=732;AS_QD=20.3333;AS_ReadPosRankSum=-0.551000;AS_SB_TABLE=27,63|7,19;AS_SOR=0.786769;AS_VarDP=36;inbreeding_coeff=0.666660;AS_culprit=AS_MQRankSum;AS_VQSLOD=-2.54090;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|43469|10119|4054|1219|342|127|31|5|2|2|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14758|24836|12041|5905|1706|97|16|8|4|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0738430;cadd_phred=1.86700;pangolin_largest_ds=0.00000;phylop=-0.765000;VRS_Allele_IDs=ga4gh:VA.Qrk3ZP78TCl_VRfwpYLGzFS4NxBFRYeO,ga4gh:VA.XJVKh8ryr_3QhPzCFLbQKhTiSsK2NX4x;VRS_Starts=5030614,5030614;VRS_Ends=5030615,5030615;VRS_States=A,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1438A>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1438A>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1438A>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1438A>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1438A>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1438A>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1438A>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1438A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1438A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030615	.	A	G	.	AC0	AC=0;AN=118738;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=61388;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=57350;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16430;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=13914;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30344;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=386;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=380;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=766;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5360;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6584;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11944;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1472;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1260;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2732;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1808;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2262;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4070;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2140;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6282;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8422;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=124;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=118;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=242;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=31950;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23038;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=54988;nhomalt_nfe=0;AC_raw=6;AF_raw=4.25062e-05;AN_raw=141156;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=748;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=792;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1540;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=970;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2720;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3690;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=3.63922;MQ=35.0076;MQRankSum=0.696000;QUALapprox=1107;QD=8.32331;ReadPosRankSum=-0.551000;SOR=0.418000;VarDP=133;AS_FS=10.6784;AS_MQ=35.3419;AS_MQRankSum=0.696000;AS_pab_max=0.375000;AS_QUALapprox=359;AS_QD=4.17442;AS_ReadPosRankSum=0.572000;AS_SB_TABLE=27,63|8,7;AS_SOR=0.376401;AS_VarDP=86;inbreeding_coeff=0.333305;AS_culprit=AS_QD;AS_VQSLOD=-2.45710;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|43469|10119|4053|1219|342|127|30|5|2|2|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14757|24835|12041|5905|1706|97|16|8|4|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.103511;cadd_phred=2.12300;phylop=-0.765000;VRS_Allele_IDs=ga4gh:VA.Qrk3ZP78TCl_VRfwpYLGzFS4NxBFRYeO,ga4gh:VA.tn_H8vv7PUekKURmeIfpvNxKBjEiWoSN;VRS_Starts=5030614,5030614;VRS_Ends=5030615,5030615;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1438A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1438A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1438A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1438A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1438A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1438A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1438A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1438A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1438A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030618	.	T	C	.	AC0	AC=0;AN=118368;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=61252;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=57116;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16376;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=13890;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30266;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=384;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=378;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=762;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5346;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6544;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11890;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1474;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1260;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2734;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1814;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2264;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4078;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2126;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6226;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8352;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=122;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=118;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=240;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=31894;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=22958;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=54852;nhomalt_nfe=0;AC_raw=2;AF_raw=1.42128e-05;AN_raw=140718;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=748;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=780;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1528;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=968;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2698;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3666;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=8.25339;MQ=36.8128;MQRankSum=0.696000;QUALapprox=234;QD=3.29577;ReadPosRankSum=0.589000;SOR=0.778000;VarDP=71;AS_FS=9.36296;AS_MQ=36.7523;AS_MQRankSum=0.857000;AS_pab_max=0.289063;AS_QUALapprox=201;AS_QD=3.86538;AS_ReadPosRankSum=0.589000;AS_SB_TABLE=19,42|5,3;AS_SOR=0.902732;AS_VarDP=52;inbreeding_coeff=-1.42130e-05;AS_culprit=AS_QD;AS_VQSLOD=-1.72020;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|43437|10062|3967|1208|341|134|27|5|2|1|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14491|24889|12063|5908|1707|97|17|8|4|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0619740;cadd_phred=1.77200;phylop=-0.143000;VRS_Allele_IDs=ga4gh:VA.w5gGDgnMIiQVOJ1eB-cXAnF4WvQADKuA,ga4gh:VA.9tWjBKX8hGX85CopjCJuO6J6H_UHQtdG;VRS_Starts=5030617,5030617;VRS_Ends=5030618,5030618;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1435T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1435T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1435T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1435T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1435T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1435T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1435T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1435T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1435T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030619	rs1331293723	G	A	.	PASS	AC=5;AN=119472;AF=4.18508e-05;grpmax=sas;fafmax_faf95_max=0.000533190;fafmax_faf95_max_gen_anc=sas;AC_XX=4;AF_XX=6.47794e-05;AN_XX=61748;nhomalt_XX=1;AC_XY=1;AF_XY=1.73238e-05;AN_XY=57724;nhomalt_XY=0;nhomalt=1;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16622;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14132;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30754;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=386;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=380;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=766;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5390;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6606;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11996;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1478;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1262;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2740;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1816;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2284;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4100;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2146;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6304;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8450;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=110;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=114;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=224;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=32064;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23112;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=55176;nhomalt_nfe=0;AC_raw=5;AF_raw=3.53902e-05;AN_raw=141282;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=774;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=800;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1574;nhomalt_remaining=0;AC_sas_XX=4;AF_sas_XX=0.00415800;AN_sas_XX=962;nhomalt_sas_XX=1;AC_sas_XY=1;AF_sas_XY=0.000366300;AN_sas_XY=2730;nhomalt_sas_XY=0;AC_sas=5;AF_sas=0.00135428;AN_sas=3692;nhomalt_sas=1;AC_grpmax=5;AF_grpmax=0.00135428;AN_grpmax=3692;nhomalt_grpmax=1;faf95=1.62400e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.000533190;faf99=9.89000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.000346260;fafmax_faf99_max=0.000346260;fafmax_faf99_max_gen_anc=sas;age_hist_het_bin_freq=0|1|0|0|1|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|1|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.92865e-15;MQ=41.5565;MQRankSum=0.0310000;QUALapprox=1456;QD=13.1171;ReadPosRankSum=0.358000;SOR=0.720000;VarDP=111;AS_FS=1.60057;AS_MQ=42.1594;AS_MQRankSum=0.0310000;AS_pab_max=0.690038;AS_QUALapprox=1219;AS_QD=13.6966;AS_ReadPosRankSum=0.0820000;AS_SB_TABLE=25,29|25,23;AS_SOR=0.654782;AS_VarDP=89;inbreeding_coeff=0.399979;AS_culprit=AS_MQ;AS_VQSLOD=-1.60660;negative_train_site;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|3;gq_hist_all_bin_freq=0|0|0|0|43656|10168|4077|1253|346|137|31|5|2|1|0|0|0|0|0|3;dp_hist_alt_bin_freq=0|0|1|0|1|1|1|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14772|25067|12093|5912|1710|97|17|7|4|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|2|0|0|1|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0478260;cadd_phred=1.06400;pangolin_largest_ds=0.00000;phylop=-1.30600;VRS_Allele_IDs=ga4gh:VA.zWJ3J4ETUKRRovqcphc8JFkIcUJtfxaX,ga4gh:VA.AqonxOLeqkJp3HJNYF6SdusHYryK3FRO;VRS_Starts=5030618,5030618;VRS_Ends=5030619,5030619;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1434G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1434G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1434G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1434G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1434G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1434G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1434G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1434G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1434G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030619	rs1331293723	G	C	.	AC0;AS_VQSR	AC=0;AN=119356;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=61750;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=57606;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16612;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14042;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30654;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=386;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=380;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=766;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5384;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6592;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11976;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1478;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1262;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2740;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1822;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2284;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4106;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2146;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6302;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8448;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=124;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=114;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=238;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=32068;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23112;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=55180;nhomalt_nfe=0;AC_raw=1;AF_raw=7.08356e-06;AN_raw=141172;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=756;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=792;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1548;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=974;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2726;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3700;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.92865e-15;MQ=41.5565;MQRankSum=0.0310000;QUALapprox=1456;QD=13.1171;ReadPosRankSum=0.358000;SOR=0.720000;VarDP=111;AS_FS=11.6271;AS_MQ=38.9936;AS_MQRankSum=0.358000;AS_pab_max=1.00000;AS_QUALapprox=237;AS_QD=10.7727;AS_ReadPosRankSum=1.28300;AS_SB_TABLE=25,29|1,8;AS_SOR=2.78563;AS_VarDP=22;inbreeding_coeff=-7.08361e-06;AS_culprit=AS_SOR;AS_VQSLOD=-4.11250;negative_train_site;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|43656|10168|4077|1253|346|137|30|5|2|1|0|0|0|0|0|3;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14771|25067|12093|5912|1710|97|17|7|4|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0845210;cadd_phred=0.893000;phylop=-1.30600;VRS_Allele_IDs=ga4gh:VA.zWJ3J4ETUKRRovqcphc8JFkIcUJtfxaX,ga4gh:VA.c6lQJ0pCdDHIhnmdmPu2Qw9dUrmJXj5k;VRS_Starts=5030618,5030618;VRS_Ends=5030619,5030619;VRS_States=G,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1434G>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1434G>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1434G>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1434G>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1434G>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1434G>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1434G>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1434G>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1434G>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030621	.	G	T	.	AC0;AS_VQSR	AC=0;AN=119524;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=61822;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=57702;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16650;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14066;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30716;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=390;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=378;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=768;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5378;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6604;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11982;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1472;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1264;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2736;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1824;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2292;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4116;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2146;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6344;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8490;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=120;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=118;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=238;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=32104;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23100;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=55204;nhomalt_nfe=0;AC_raw=1;AF_raw=7.08255e-06;AN_raw=141192;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=760;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=796;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1556;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=978;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2740;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3718;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=6.10660;MQ=37.6696;MQRankSum=1.51700;QUALapprox=75;QD=4.16667;ReadPosRankSum=-0.696000;SOR=1.43700;VarDP=18;AS_FS=6.10660;AS_MQ=37.6696;AS_MQRankSum=1.51700;AS_pab_max=0.726563;AS_QUALapprox=75;AS_QD=4.16667;AS_ReadPosRankSum=-0.696000;AS_SB_TABLE=4,10|3,1;AS_SOR=1.43666;AS_VarDP=18;inbreeding_coeff=-7.08260e-06;AS_culprit=AS_QD;AS_VQSLOD=-2.99440;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|43755|10154|4066|1261|350|137|31|5|2|1|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14722|25166|12120|5918|1710|97|17|8|4|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0781600;cadd_phred=1.90300;phylop=-0.0750000;VRS_Allele_IDs=ga4gh:VA.rEocYS9feyJN3w2IJWJC8yKrC6rexSK-,ga4gh:VA.YrayZbdeJ3SqNSO2AsW_BzPUvyXM4OcD;VRS_Starts=5030620,5030620;VRS_Ends=5030621,5030621;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1432G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1432G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1432G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1432G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1432G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1432G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1432G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1432G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1432G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030622	.	G	T	.	AC0;AS_VQSR	AC=0;AN=119638;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=61878;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=57760;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16680;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14088;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30768;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=390;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=378;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=768;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5406;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6618;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=12024;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1472;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1262;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2734;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1828;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2296;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4124;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2140;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6338;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8478;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=122;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=118;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=240;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=32108;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23120;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=55228;nhomalt_nfe=0;AC_raw=1;AF_raw=7.08185e-06;AN_raw=141206;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=756;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=796;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1552;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=976;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2746;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3722;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=12.6935;MQ=29.8840;MQRankSum=-0.107000;QUALapprox=103;QD=2.86111;ReadPosRankSum=0.922000;SOR=0.0390000;VarDP=36;AS_FS=8.22622;AS_MQ=28.6644;AS_MQRankSum=-0.107000;AS_pab_max=1.00000;AS_QUALapprox=62;AS_QD=3.64706;AS_ReadPosRankSum=1.23100;AS_SB_TABLE=4,24|2,2;AS_SOR=0.0392207;AS_VarDP=17;inbreeding_coeff=-7.08190e-06;AS_culprit=AS_MQ;AS_VQSLOD=-3.52670;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|43774|10172|4077|1269|351|137|31|5|2|1|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14730|25201|12130|5920|1712|97|17|8|4|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0803450;cadd_phred=1.92100;phylop=0.782000;VRS_Allele_IDs=ga4gh:VA.o8ZnDnFv5oE4PcZ9tCNO9CZ5Fj7t_zD2,ga4gh:VA.flZJ4-xZ_p451CZozMHXLdUqbUEPjB0f;VRS_Starts=5030621,5030621;VRS_Ends=5030622,5030622;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1431G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1431G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1431G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1431G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1431G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1431G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1431G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1431G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1431G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030624	rs1317259440	G	A	.	AS_VQSR	AC=10;AN=119712;AF=8.35338e-05;grpmax=sas;fafmax_faf95_max=0.000106370;fafmax_faf95_max_gen_anc=afr;AC_XX=3;AF_XX=4.85186e-05;AN_XX=61832;nhomalt_XX=0;AC_XY=7;AF_XY=0.000120940;AN_XY=57880;nhomalt_XY=0;nhomalt=0;AC_afr_XX=2;AF_afr_XX=0.000120482;AN_afr_XX=16600;nhomalt_afr_XX=0;AC_afr_XY=5;AF_afr_XY=0.000355215;AN_afr_XY=14076;nhomalt_afr_XY=0;AC_afr=7;AF_afr=0.000228191;AN_afr=30676;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=392;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=378;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=770;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5398;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6652;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=12050;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1480;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1264;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2744;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1818;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2300;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4118;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2156;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6368;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8524;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=110;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=118;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=228;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=32134;nhomalt_nfe_XX=0;AC_nfe_XY=2;AF_nfe_XY=8.63856e-05;AN_nfe_XY=23152;nhomalt_nfe_XY=0;AC_nfe=2;AF_nfe=3.61755e-05;AN_nfe=55286;nhomalt_nfe=0;AC_raw=82;AF_raw=0.000582279;AN_raw=140826;nhomalt_raw=26;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=776;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=810;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1586;nhomalt_remaining=0;AC_sas_XX=1;AF_sas_XX=0.00103306;AN_sas_XX=968;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2762;nhomalt_sas_XY=0;AC_sas=1;AF_sas=0.000268097;AN_sas=3730;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000268097;AN_grpmax=3730;nhomalt_grpmax=0;faf95=4.51500e-05;faf95_afr=0.000106370;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=6.00000e-06;faf95_sas=0.00000;faf99=3.37000e-05;faf99_afr=7.55500e-05;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=2.25000e-06;faf99_sas=0.00000;fafmax_faf99_max=7.55500e-05;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=0|0|0|0|0|0|1|0|0|0;age_hist_het_n_smaller=1;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=156.587;MQ=33.9391;MQRankSum=-0.736000;QUALapprox=6741;QD=8.66452;ReadPosRankSum=-0.480000;SOR=4.86800;VarDP=778;AS_FS=156.587;AS_MQ=33.7516;AS_MQRankSum=-0.736000;AS_pab_max=1.00000;AS_QUALapprox=6678;AS_QD=8.68400;AS_ReadPosRankSum=-0.480000;AS_SB_TABLE=179,316|260,21;AS_SOR=4.94924;AS_VarDP=769;inbreeding_coeff=0.633933;AS_culprit=AS_FS;AS_VQSLOD=-13.0972;negative_train_site;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|3|0|1|0|2|1|1|1|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|43764|10174|4070|1261|345|142|32|6|3|2|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|8|2|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14625|25263|12149|5925|1713|97|17|7|4|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|5|4|1|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0391770;cadd_phred=1.10900;phylop=-0.0480000;VRS_Allele_IDs=ga4gh:VA.atNsnaQ6ucD-EiBaPeNT2mdwXs-Z7K7v,ga4gh:VA.UMtx4jB0tH_m2dNjjw7QX0xEZH10FXP6;VRS_Starts=5030623,5030623;VRS_Ends=5030624,5030624;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1429G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1429G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1429G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1429G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1429G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1429G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1429G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1429G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1429G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030625	rs1987115220	GCA	G	.	PASS	AC=2;AN=119800;AF=1.66945e-05;grpmax=nfe;fafmax_faf95_max=6.00000e-06;fafmax_faf95_max_gen_anc=nfe;AC_XX=2;AF_XX=3.22956e-05;AN_XX=61928;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=57872;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16708;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14144;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30852;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=392;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=376;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=768;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5404;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6644;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=12048;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1484;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1264;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2748;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1824;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2292;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4116;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2146;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6344;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8490;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=124;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=118;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=242;nhomalt_mid=0;AC_nfe_XX=2;AF_nfe_XX=6.22898e-05;AN_nfe_XX=32108;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23144;nhomalt_nfe_XY=0;AC_nfe=2;AF_nfe=3.61978e-05;AN_nfe=55252;nhomalt_nfe=0;AC_raw=2;AF_raw=1.41800e-05;AN_raw=141044;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=760;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=798;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1558;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=978;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2748;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3726;nhomalt_sas=0;AC_grpmax=2;AF_grpmax=3.61978e-05;AN_grpmax=55252;nhomalt_grpmax=0;faf95=2.77000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=6.00000e-06;faf95_sas=0.00000;faf99=1.04000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=2.25000e-06;faf99_sas=0.00000;fafmax_faf99_max=2.25000e-06;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|0|0|1|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=36.9938;MQRankSum=-1.06700;QUALapprox=1834;QD=13.1000;ReadPosRankSum=0.428000;SOR=0.711000;VarDP=140;AS_FS=0.696596;AS_MQ=35.9127;AS_MQRankSum=-1.06700;AS_pab_max=1.00000;AS_QUALapprox=1797;AS_QD=14.8512;AS_ReadPosRankSum=0.428000;AS_SB_TABLE=32,57|16,32;AS_SOR=0.797434;AS_VarDP=121;inbreeding_coeff=-1.41802e-05;AS_culprit=AS_FS;AS_VQSLOD=2.01020;negative_train_site;allele_type=del;n_alt_alleles=2;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|2;gq_hist_all_bin_freq=0|0|0|0|43852|10185|4067|1266|347|142|31|5|2|1|0|0|0|0|0|2;dp_hist_alt_bin_freq=0|0|0|1|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14590|25333|12192|5941|1719|97|16|7|5|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|2|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.382117;cadd_phred=0.210000;pangolin_largest_ds=0.00000;phylop=0.782000;VRS_Allele_IDs=ga4gh:VA.avW-Dacrmsfq4sQhdbhvKKsR5Ffb6Fml,ga4gh:VA.7fOspkVc6x4l4mxiqb0h0XYsxRBY6pas;VRS_Starts=5030624,5030625;VRS_Ends=5030627,5030627;VRS_States=GCA,;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1427_698-1426del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1427_347-1426del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1427_347-1426del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1427_*312-1426del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1427_698-1426del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1427_698-1426del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1427_698-1426del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1427_698-1426del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1427_698-1426del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030626	.	CAT	C	.	AC0	AC=0;AN=119654;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=61902;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=57752;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16706;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14118;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30824;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=392;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=376;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=768;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5398;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6614;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=12012;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1480;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1266;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2746;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1814;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2282;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4096;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2152;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6308;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8460;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=124;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=116;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=240;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=32096;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23132;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=55228;nhomalt_nfe=0;AC_raw=2;AF_raw=1.41834e-05;AN_raw=141010;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=764;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=790;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1554;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=976;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2750;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3726;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.90172;MQ=38.7897;MQRankSum=0.598000;QUALapprox=168;QD=4.66667;ReadPosRankSum=0.863000;SOR=0.242000;VarDP=36;AS_FS=2.20751;AS_MQ=40.7193;AS_MQRankSum=-0.255000;AS_pab_max=0.00738525;AS_QUALapprox=135;AS_QD=7.94118;AS_ReadPosRankSum=-1.95300;AS_SB_TABLE=10,20|2,2;AS_SOR=0.242457;AS_VarDP=17;inbreeding_coeff=1.00000;AS_culprit=AS_ReadPosRankSum;AS_VQSLOD=-0.677500;negative_train_site;allele_type=del;n_alt_alleles=2;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|43846|10154|4041|1260|350|137|31|5|2|1|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14495|25349|12198|5941|1719|97|16|7|5|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.263813;cadd_phred=0.372000;phylop=-4.70800;VRS_Allele_IDs=ga4gh:VA.usgZ24aGD0_ffCWopsiAxxPSmd-_HyvS,ga4gh:VA.JatRanlRTFFyMxJzpQBTKEbD9UP_dQUE;VRS_Starts=5030625,5030626;VRS_Ends=5030628,5030628;VRS_States=CAT,;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1426_698-1425del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1426_347-1425del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1426_347-1425del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1426_*312-1425del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1426_698-1425del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1426_698-1425del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1426_698-1425del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1426_698-1425del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1426_698-1425del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030627	rs1158731541	A	G	.	AC0	AC=0;AN=119742;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=61940;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=57802;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16722;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14114;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30836;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=388;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=376;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=764;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5410;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6644;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=12054;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1482;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1266;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2748;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1824;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2288;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4112;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2150;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6356;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8506;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=122;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=116;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=238;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=32108;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23106;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=55214;nhomalt_nfe=0;AC_raw=6;AF_raw=4.25363e-05;AN_raw=141056;nhomalt_raw=2;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=758;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=792;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1550;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=976;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2744;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3720;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=2.93225;MQ=37.2078;MQRankSum=-0.254000;QUALapprox=1628;QD=8.94506;ReadPosRankSum=0.00000;SOR=0.932000;VarDP=182;AS_FS=2.10751;AS_MQ=37.1465;AS_MQRankSum=-0.254000;AS_pab_max=1.00000;AS_QUALapprox=1583;AS_QD=8.74586;AS_ReadPosRankSum=0.00000;AS_SB_TABLE=40,79|18,44;AS_SOR=0.905573;AS_VarDP=181;inbreeding_coeff=0.666652;AS_culprit=AS_MQ;AS_VQSLOD=-2.40450;negative_train_site;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|43859|10176|4054|1259|352|132|31|5|2|1|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14496|25387|12202|5941|1719|97|16|8|5|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0253920;cadd_phred=1.18400;phylop=-3.03600;VRS_Allele_IDs=ga4gh:VA.vf9XhOys63YsPsI1I5dO3nVAr98GpkB-,ga4gh:VA.A90-R5Wu4f9Ae5mwyBDxddXYL4fbVV47;VRS_Starts=5030626,5030626;VRS_Ends=5030627,5030627;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1426A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1426A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1426A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1426A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1426A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1426A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1426A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1426A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1426A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030628	rs1420781989	T	C	.	AC0	AC=0;AN=119556;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=61868;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=57688;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16702;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14096;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30798;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=390;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=380;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=770;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5398;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6634;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=12032;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1480;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1262;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2742;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1826;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2288;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4114;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2152;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6300;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8452;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=124;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=116;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=240;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=32064;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23074;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=55138;nhomalt_nfe=0;AC_raw=3;AF_raw=2.12938e-05;AN_raw=140886;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=758;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=794;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1552;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=974;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2744;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3718;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=9.00598;MQ=38.5079;MQRankSum=0.135000;QUALapprox=3215;QD=11.0862;ReadPosRankSum=-0.0440000;SOR=0.365000;VarDP=290;AS_FS=16.3206;AS_MQ=41.9863;AS_MQRankSum=1.18200;AS_pab_max=0.229481;AS_QUALapprox=854;AS_QD=7.62500;AS_ReadPosRankSum=-0.0440000;AS_SB_TABLE=65,125|20,16;AS_SOR=0.587969;AS_VarDP=112;inbreeding_coeff=-2.12943e-05;AS_culprit=AS_MQ;AS_VQSLOD=-2.37070;negative_train_site;allele_type=snv;n_alt_alleles=3;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|43847|10161|4019|1243|347|122|30|5|1|1|0|0|0|0|0|2;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14424|25362|12206|5942|1719|97|16|8|4|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.101032;cadd_phred=2.10000;phylop=-0.156000;VRS_Allele_IDs=ga4gh:VA.6vc_flS7u2ipHIj4K2y-iyKKu9zkXGTc,ga4gh:VA.09wSFvVZIvQg5O_1hPsCvv96_IWpxJUW;VRS_Starts=5030627,5030627;VRS_Ends=5030628,5030628;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1425T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1425T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1425T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1425T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1425T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1425T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1425T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1425T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1425T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030628	rs1420781989	T	G	.	AC0;AS_VQSR	AC=0;AN=119560;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=61870;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=57690;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16702;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14096;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30798;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=390;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=380;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=770;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5398;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6634;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=12032;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1480;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1262;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2742;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1826;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2288;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4114;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2152;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6302;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8454;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=124;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=116;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=240;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=32066;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23074;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=55140;nhomalt_nfe=0;AC_raw=5;AF_raw=3.54897e-05;AN_raw=140886;nhomalt_raw=2;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=758;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=794;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1552;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=974;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2744;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3718;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=9.00598;MQ=38.5079;MQRankSum=0.135000;QUALapprox=3215;QD=11.0862;ReadPosRankSum=-0.0440000;SOR=0.365000;VarDP=290;AS_FS=5.59244;AS_MQ=36.7585;AS_MQRankSum=0.696000;AS_pab_max=0.179688;AS_QUALapprox=564;AS_QD=9.72414;AS_ReadPosRankSum=-0.423000;AS_SB_TABLE=65,125|8,8;AS_SOR=0.242457;AS_VarDP=58;inbreeding_coeff=0.799993;AS_culprit=AS_MQ;AS_VQSLOD=-3.38470;negative_train_site;allele_type=snv;n_alt_alleles=3;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|43847|10161|4019|1243|347|122|30|7|1|1|0|0|0|0|0|2;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14426|25362|12206|5942|1719|97|16|8|4|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0696270;cadd_phred=1.83300;phylop=-0.156000;VRS_Allele_IDs=ga4gh:VA.6vc_flS7u2ipHIj4K2y-iyKKu9zkXGTc,ga4gh:VA.oZ8NCA05JefnPuWAc4d6vDbQ9mNuP8NV;VRS_Starts=5030627,5030627;VRS_Ends=5030628,5030628;VRS_States=T,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1425T>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1425T>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1425T>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1425T>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1425T>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1425T>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1425T>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1425T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1425T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030628	rs1987115532	T	TGG	.	PASS	AC=2;AN=119560;AF=1.67280e-05;grpmax=nfe;fafmax_faf95_max=6.02000e-06;fafmax_faf95_max_gen_anc=nfe;AC_XX=2;AF_XX=3.23258e-05;AN_XX=61870;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=57690;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16702;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14096;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30798;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=390;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=380;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=770;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5398;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6634;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=12032;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1480;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1262;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2742;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1826;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2288;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4114;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2152;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6302;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8454;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=124;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=116;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=240;nhomalt_mid=0;AC_nfe_XX=2;AF_nfe_XX=6.23714e-05;AN_nfe_XX=32066;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23074;nhomalt_nfe_XY=0;AC_nfe=2;AF_nfe=3.62713e-05;AN_nfe=55140;nhomalt_nfe=0;AC_raw=2;AF_raw=1.41959e-05;AN_raw=140886;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=758;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=794;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1552;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=974;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2744;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3718;nhomalt_sas=0;AC_grpmax=2;AF_grpmax=3.62713e-05;AN_grpmax=55140;nhomalt_grpmax=0;faf95=2.78000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=6.02000e-06;faf95_sas=0.00000;faf99=1.04000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=2.25000e-06;faf99_sas=0.00000;fafmax_faf99_max=2.25000e-06;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|0|0|1|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=9.00598;MQ=38.5079;MQRankSum=0.135000;QUALapprox=3215;QD=11.0862;ReadPosRankSum=-0.0440000;SOR=0.365000;VarDP=290;AS_FS=0.00000;AS_MQ=35.8167;AS_MQRankSum=-0.731000;AS_pab_max=1.00000;AS_QUALapprox=1797;AS_QD=14.9750;AS_ReadPosRankSum=0.340000;AS_SB_TABLE=65,125|16,32;AS_SOR=0.709953;AS_VarDP=120;inbreeding_coeff=-1.41961e-05;AS_culprit=AS_FS;AS_VQSLOD=15.8703;negative_train_site;allele_type=ins;n_alt_alleles=3;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|2;gq_hist_all_bin_freq=0|0|0|0|43847|10161|4019|1243|347|122|30|7|1|1|0|0|0|0|0|2;dp_hist_alt_bin_freq=0|0|0|1|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14426|25362|12206|5942|1719|97|16|8|4|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|2|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0148180;cadd_phred=1.24500;pangolin_largest_ds=0.00000;phylop=-0.156000;VRS_Allele_IDs=ga4gh:VA.6vc_flS7u2ipHIj4K2y-iyKKu9zkXGTc,ga4gh:VA.27tRvpC1vOikRfc3dKzlt0fUnKGrDp-h;VRS_Starts=5030627,5030628;VRS_Ends=5030628,5030629;VRS_States=T,GGG;vep=GG|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1424_698-1423insGG|||||||1||1||insertion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,GG|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1424_347-1423insGG|||||||1||1||insertion||||||5|||ENSP00000484302||Ensembl|||||||||||||,GG|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1424_347-1423insGG|||||||1||1||insertion||||||2|||ENSP00000485649||Ensembl|||||||||||||,GG|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1424_*312-1423insGG|||||||1||1||insertion||||||2|||ENSP00000485557||Ensembl|||||||||||||,GG|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1424_698-1423insGG|||||||1||1||insertion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,GG|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1424_698-1423insGG|||||||1||1||insertion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,GG|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1424_698-1423insGG|||||||1||1||insertion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,GG|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1424_698-1423insGG|||||||1||1||insertion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,GG|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1424_698-1423insGG|||||||1||1||insertion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030629	rs2123011344	G	A	.	AC0	AC=0;AN=119826;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=61978;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=57848;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16746;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14152;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30898;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=392;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=380;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=772;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5420;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6642;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=12062;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1480;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1266;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2746;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1820;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2286;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4106;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2154;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6344;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8498;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=124;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=112;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=236;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=32098;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23116;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=55214;nhomalt_nfe=0;AC_raw=1;AF_raw=7.08597e-06;AN_raw=141124;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=764;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=800;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1564;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=980;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2750;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3730;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=41.3652;MQRankSum=0.574000;QUALapprox=318;QD=5.12903;ReadPosRankSum=-0.0670000;SOR=0.522000;VarDP=62;AS_FS=0.00000;AS_MQ=42.9801;AS_MQRankSum=1.17900;AS_pab_max=0.179688;AS_QUALapprox=165;AS_QD=7.85714;AS_ReadPosRankSum=-0.0670000;AS_SB_TABLE=21,30|2,3;AS_SOR=0.639411;AS_VarDP=21;inbreeding_coeff=-7.08602e-06;AS_culprit=AS_MQ;AS_VQSLOD=-1.83930;negative_train_site;allele_type=snv;n_alt_alleles=3;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|43920|10197|4023|1253|352|130|31|5|1|1|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14474|25420|12229|5944|1720|97|16|8|5|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0943720;cadd_phred=2.04100;phylop=-0.897000;VRS_Allele_IDs=ga4gh:VA.Cdk9wgr4OVxyToV9WwzX_WkaYDjvByzH,ga4gh:VA.t06Wxen_BEMGoPdSXwgq2rTzAbW6tf0I;VRS_Starts=5030628,5030628;VRS_Ends=5030629,5030629;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1424G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1424G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1424G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1424G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1424G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1424G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1424G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1424G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1424G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030629	.	G	GCA	.	AC0	AC=0;AN=119828;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=61978;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=57850;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16746;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14152;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30898;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=392;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=380;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=772;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5420;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6642;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=12062;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1480;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1266;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2746;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1820;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2286;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4106;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2154;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6346;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8500;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=124;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=112;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=236;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=32098;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23116;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=55214;nhomalt_nfe=0;AC_raw=2;AF_raw=1.41719e-05;AN_raw=141124;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=764;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=800;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1564;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=980;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2750;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3730;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=41.3652;MQRankSum=0.574000;QUALapprox=318;QD=5.12903;ReadPosRankSum=-0.0670000;SOR=0.522000;VarDP=62;AS_FS=0.00000;AS_MQ=40.7193;AS_MQRankSum=-0.255000;AS_pab_max=0.00738525;AS_QUALapprox=135;AS_QD=7.94118;AS_ReadPosRankSum=-1.78300;AS_SB_TABLE=21,30|2,2;AS_SOR=0.407890;AS_VarDP=17;inbreeding_coeff=1.00000;AS_culprit=AS_ReadPosRankSum;AS_VQSLOD=14.1906;negative_train_site;allele_type=ins;n_alt_alleles=3;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|43920|10197|4023|1253|352|130|31|6|1|1|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14475|25420|12229|5944|1720|97|16|8|5|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0540190;cadd_phred=1.03300;phylop=-0.897000;VRS_Allele_IDs=ga4gh:VA.Cdk9wgr4OVxyToV9WwzX_WkaYDjvByzH,ga4gh:VA.jV7kUQF3Q5NgmnbIUTO1UyiCB7bBeSDE;VRS_Starts=5030628,5030629;VRS_Ends=5030629,5030629;VRS_States=G,CA;vep=CA|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1424_698-1423insCA|||||||1||1||insertion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,CA|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1424_347-1423insCA|||||||1||1||insertion||||||5|||ENSP00000484302||Ensembl|||||||||||||,CA|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1424_347-1423insCA|||||||1||1||insertion||||||2|||ENSP00000485649||Ensembl|||||||||||||,CA|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1424_*312-1423insCA|||||||1||1||insertion||||||2|||ENSP00000485557||Ensembl|||||||||||||,CA|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1424_698-1423insCA|||||||1||1||insertion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,CA|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1424_698-1423insCA|||||||1||1||insertion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,CA|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1424_698-1423insCA|||||||1||1||insertion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,CA|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1424_698-1423insCA|||||||1||1||insertion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,CA|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1424_698-1423insCA|||||||1||1||insertion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030630	.	T	A	.	AC0;AS_VQSR	AC=0;AN=119800;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=61968;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=57832;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16732;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14148;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30880;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=394;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=382;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=776;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5422;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6638;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=12060;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1482;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1270;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2752;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1826;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2282;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4108;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2150;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6328;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8478;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=122;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=118;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=240;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=32106;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23118;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=55224;nhomalt_nfe=0;AC_raw=3;AF_raw=2.12675e-05;AN_raw=141060;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=762;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=796;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1558;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=972;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2752;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3724;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=26.1906;MQ=37.0137;MQRankSum=0.696000;QUALapprox=419;QD=6.75806;ReadPosRankSum=0.00000;SOR=0.738000;VarDP=62;AS_FS=7.74207;AS_MQ=47.9005;AS_MQRankSum=-2.23900;AS_pab_max=0.0654297;AS_QUALapprox=147;AS_QD=11.3077;AS_ReadPosRankSum=-0.589000;AS_SB_TABLE=8,39|2,2;AS_SOR=0.0493852;AS_VarDP=13;inbreeding_coeff=0.666660;AS_culprit=AS_MQRankSum;AS_VQSLOD=-2.57260;negative_train_site;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|43947|10191|4004|1246|354|124|27|5|1|1|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14461|25423|12230|5943|1717|97|16|8|5|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.202896;cadd_phred=3.15700;phylop=-0.764000;VRS_Allele_IDs=ga4gh:VA.t-WZdCrm6daH5W7K7n0Soi8qC8VaGwZu,ga4gh:VA.SC7gtAtV38BfkuDS7mS09b06OrZoHDI_;VRS_Starts=5030629,5030629;VRS_Ends=5030630,5030630;VRS_States=T,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1423T>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1423T>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1423T>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1423T>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1423T>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1423T>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1423T>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1423T>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1423T>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030630	.	T	C	.	AC0	AC=0;AN=119802;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=61968;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=57834;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16732;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14148;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30880;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=394;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=382;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=776;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5422;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6638;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=12060;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1482;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1270;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2752;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1826;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2282;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4108;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2150;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6330;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8480;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=122;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=118;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=240;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=32106;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23118;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=55224;nhomalt_nfe=0;AC_raw=3;AF_raw=2.12675e-05;AN_raw=141060;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=762;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=796;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1558;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=972;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2752;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3724;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=26.1906;MQ=37.0137;MQRankSum=0.696000;QUALapprox=419;QD=6.75806;ReadPosRankSum=0.00000;SOR=0.738000;VarDP=62;AS_FS=24.1375;AS_MQ=33.5374;AS_MQRankSum=0.742000;AS_pab_max=1.00000;AS_QUALapprox=272;AS_QD=5.55102;AS_ReadPosRankSum=0.00000;AS_SB_TABLE=8,39|7,4;AS_SOR=0.959590;AS_VarDP=49;inbreeding_coeff=-2.12680e-05;AS_culprit=AS_MQ;AS_VQSLOD=-2.44120;negative_train_site;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|43947|10191|4004|1246|354|124|27|6|1|1|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14462|25423|12230|5943|1717|97|16|8|5|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.251310;cadd_phred=3.72000;phylop=-0.764000;VRS_Allele_IDs=ga4gh:VA.t-WZdCrm6daH5W7K7n0Soi8qC8VaGwZu,ga4gh:VA.vNju30zK1RU05DKm6_E5bEkMnSKZE4Dd;VRS_Starts=5030629,5030629;VRS_Ends=5030630,5030630;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1423T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1423T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1423T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1423T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1423T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1423T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1423T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1423T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1423T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030633	rs2123011366	C	T	.	PASS	AC=1;AN=119960;AF=8.33611e-06;grpmax=amr;AC_XX=0;AF_XX=0.00000;AN_XX=62000;nhomalt_XX=0;AC_XY=1;AF_XY=1.72533e-05;AN_XY=57960;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16768;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14248;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=31016;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=394;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=384;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=778;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5432;nhomalt_amr_XX=0;AC_amr_XY=1;AF_amr_XY=0.000149611;AN_amr_XY=6684;nhomalt_amr_XY=0;AC_amr=1;AF_amr=8.25355e-05;AN_amr=12116;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1488;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1270;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2758;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1804;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2276;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4080;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2156;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6324;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8480;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=110;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=116;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=226;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=32100;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23096;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=55196;nhomalt_nfe=0;AC_raw=1;AF_raw=7.08657e-06;AN_raw=141112;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=776;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=808;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1584;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=972;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2754;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3726;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=8.25355e-05;AN_grpmax=12116;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.92184;MQ=45.4066;MQRankSum=3.24500;QUALapprox=416;QD=19.8095;ReadPosRankSum=1.00700;SOR=0.223000;VarDP=21;AS_FS=1.92184;AS_MQ=45.4066;AS_MQRankSum=3.24500;AS_pab_max=0.189247;AS_QUALapprox=416;AS_QD=19.8095;AS_ReadPosRankSum=1.00700;AS_SB_TABLE=2,5|7,7;AS_SOR=0.223144;AS_VarDP=21;inbreeding_coeff=-7.08662e-06;AS_culprit=AS_MQRankSum;AS_VQSLOD=-1.13250;negative_train_site;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|43948|10178|4013|1241|368|137|31|6|1|1|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14376|25514|12240|5949|1719|97|17|8|5|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0;cadd_raw_score=0.130359;cadd_phred=2.37600;pangolin_largest_ds=0.0100000;phylop=0.789000;VRS_Allele_IDs=ga4gh:VA.Rx0h9Cm0-IhZVVG6BWfTs0ftYPDFxuq8,ga4gh:VA.GWySogH9mUgK6wOHnBF5oPD3l7vpw1Jq;VRS_Starts=5030632,5030632;VRS_Ends=5030633,5030633;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1420C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1420C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1420C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1420C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1420C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1420C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1420C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1420C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1420C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030635	rs1987115607	G	A	.	AC0	AC=0;AN=119992;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=62112;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=57880;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16810;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14164;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30974;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=394;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=384;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=778;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5424;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6662;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=12086;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1486;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1266;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2752;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1810;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2276;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4086;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2160;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6354;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8514;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=124;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=116;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=240;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=32154;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23094;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=55248;nhomalt_nfe=0;AC_raw=4;AF_raw=2.83664e-05;AN_raw=141012;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=760;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=804;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1564;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=990;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2760;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3750;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=3.82299;MQ=41.7980;MQRankSum=-0.720000;QUALapprox=203;QD=7.51852;ReadPosRankSum=0.720000;SOR=0.223000;VarDP=27;AS_FS=2.00632;AS_MQ=45.1437;AS_MQRankSum=1.38000;AS_pab_max=0.687500;AS_QUALapprox=172;AS_QD=8.19048;AS_ReadPosRankSum=0.888000;AS_SB_TABLE=6,13|3,3;AS_SOR=0.223144;AS_VarDP=21;inbreeding_coeff=0.499986;AS_culprit=AS_MQ;AS_VQSLOD=-1.48040;negative_train_site;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|43982|10190|4035|1253|366|131|31|6|1|1|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14379|25565|12257|5949|1719|97|17|8|5|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0584670;cadd_phred=1.01100;phylop=-0.0210000;VRS_Allele_IDs=ga4gh:VA.HC-jWig51EbiGkXpM8LwowHBqjeQx0Zq,ga4gh:VA.pTGDiVHtnPMxCJmNua6GIxaGBo2W-3ao;VRS_Starts=5030634,5030634;VRS_Ends=5030635,5030635;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1418G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1418G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1418G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1418G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1418G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1418G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1418G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1418G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1418G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030637	.	A	G	.	AC0	AC=0;AN=119610;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=61908;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=57702;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16746;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14122;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30868;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=392;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=382;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=774;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5392;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6644;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=12036;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1484;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1258;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2742;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1816;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2264;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4080;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2150;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6334;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8484;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=124;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=118;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=242;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=32066;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23022;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=55088;nhomalt_nfe=0;AC_raw=1;AF_raw=7.09995e-06;AN_raw=140846;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=758;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=796;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1554;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=980;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2762;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3742;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=39.1413;MQRankSum=1.02600;QUALapprox=145;QD=3.08511;ReadPosRankSum=1.02600;SOR=0.643000;VarDP=47;AS_FS=0.00000;AS_MQ=37.1578;AS_MQRankSum=1.53200;AS_pab_max=1.00000;AS_QUALapprox=85;AS_QD=2.29730;AS_ReadPosRankSum=1.06100;AS_SB_TABLE=19,18|4,4;AS_SOR=0.643169;AS_VarDP=37;inbreeding_coeff=-7.10000e-06;AS_culprit=AS_QD;AS_VQSLOD=-1.92630;negative_train_site;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|43889|10131|4003|1243|369|129|33|6|1|1|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14154|25589|12263|5954|1720|96|16|8|5|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.248697;cadd_phred=3.68900;phylop=-1.62200;VRS_Allele_IDs=ga4gh:VA.AklLs4sNNrC9CiMiZva6SsEfmKEuKEQ7,ga4gh:VA.hUX4oy09b_7EJPhGDikD3MMzdLXoH4Rk;VRS_Starts=5030636,5030636;VRS_Ends=5030637,5030637;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1416A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1416A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1416A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1416A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1416A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1416A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1416A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1416A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1416A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030638	rs1172124423	A	G	.	AC0	AC=0;AN=119164;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=61670;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=57494;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16658;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14058;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30716;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=390;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=382;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=772;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5382;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6622;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=12004;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1482;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1264;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2746;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1810;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2250;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4060;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2146;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6308;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8454;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=122;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=118;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=240;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=31954;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=22942;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=54896;nhomalt_nfe=0;AC_raw=3;AF_raw=2.13326e-05;AN_raw=140630;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=754;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=796;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1550;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=972;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2754;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3726;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=4.02852;MQ=41.1152;MQRankSum=0.696000;QUALapprox=204;QD=5.23077;ReadPosRankSum=-0.0910000;SOR=0.621000;VarDP=39;AS_FS=4.02852;AS_MQ=41.1152;AS_MQRankSum=0.696000;AS_pab_max=0.0224609;AS_QUALapprox=204;AS_QD=5.23077;AS_ReadPosRankSum=-0.0910000;AS_SB_TABLE=11,21|4,3;AS_SOR=0.620588;AS_VarDP=39;inbreeding_coeff=-2.13330e-05;AS_culprit=AS_QD;AS_VQSLOD=-2.13120;negative_train_site;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|43785|10072|3984|1224|357|121|31|6|1|1|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|13984|25536|12262|5953|1721|96|16|9|5|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0476500;cadd_phred=1.06500;phylop=-1.40100;VRS_Allele_IDs=ga4gh:VA.CROjVc9fYAt9X6_T5dgFiWJFg-6ySyXO,ga4gh:VA.fIy4SGYv84VEW_VmdStLXZV1oR4d6Kq6;VRS_Starts=5030637,5030637;VRS_Ends=5030638,5030638;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1415A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1415A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1415A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1415A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1415A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1415A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1415A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1415A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1415A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030639	rs1987115694	T	C	.	PASS	AC=1;AN=119046;AF=8.40011e-06;grpmax=amr;AC_XX=0;AF_XX=0.00000;AN_XX=61628;nhomalt_XX=0;AC_XY=1;AF_XY=1.74161e-05;AN_XY=57418;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16650;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14064;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30714;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=394;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=384;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=778;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5360;nhomalt_amr_XX=0;AC_amr_XY=1;AF_amr_XY=0.000150921;AN_amr_XY=6626;nhomalt_amr_XY=0;AC_amr=1;AF_amr=8.34307e-05;AN_amr=11986;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1478;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1260;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2738;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1804;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2252;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4056;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2144;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6266;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8410;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=124;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=120;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=244;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=31956;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=22902;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=54858;nhomalt_nfe=0;AC_raw=2;AF_raw=1.42345e-05;AN_raw=140504;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=748;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=788;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1536;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=970;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2756;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3726;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=8.34307e-05;AN_grpmax=11986;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.72064;MQ=38.3103;MQRankSum=0.156000;QUALapprox=104;QD=4.16000;ReadPosRankSum=0.736000;SOR=0.374000;VarDP=25;AS_FS=1.72064;AS_MQ=38.3103;AS_MQRankSum=0.156000;AS_pab_max=1.00000;AS_QUALapprox=104;AS_QD=4.16000;AS_ReadPosRankSum=0.736000;AS_SB_TABLE=6,12|3,4;AS_SOR=0.373653;AS_VarDP=25;inbreeding_coeff=-1.42347e-05;AS_culprit=AS_QD;AS_VQSLOD=-2.23700;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|43740|10069|3956|1228|366|122|34|6|1|1|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|13879|25564|12280|5955|1721|96|16|7|5|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.268252;cadd_phred=3.91800;pangolin_largest_ds=0.00000;phylop=0.611000;VRS_Allele_IDs=ga4gh:VA.F_N520v6zWGeIUS6QWSV0OSingOKlyAR,ga4gh:VA.ftd13eaSAVzyWRPhcKDb2fBK3sba6WN-;VRS_Starts=5030638,5030638;VRS_Ends=5030639,5030639;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1414T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1414T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1414T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1414T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1414T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1414T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1414T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1414T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1414T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030641	rs2123011390	C	T	.	PASS	AC=1;AN=119244;AF=8.38617e-06;grpmax=amr;AC_XX=0;AF_XX=0.00000;AN_XX=61726;nhomalt_XX=0;AC_XY=1;AF_XY=1.73859e-05;AN_XY=57518;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16706;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14130;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30836;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=392;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=376;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=768;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5394;nhomalt_amr_XX=0;AC_amr_XY=1;AF_amr_XY=0.000150739;AN_amr_XY=6634;nhomalt_amr_XY=0;AC_amr=1;AF_amr=8.31393e-05;AN_amr=12028;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1482;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1250;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2732;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1794;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2250;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4044;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2150;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6282;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8432;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=110;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=114;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=224;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=31964;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=22916;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=54880;nhomalt_nfe=0;AC_raw=2;AF_raw=1.42227e-05;AN_raw=140620;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=770;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=796;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1566;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=964;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2770;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3734;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=8.31393e-05;AN_grpmax=12028;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=3.33769;MQ=39.7922;MQRankSum=0.747000;QUALapprox=1392;QD=18.3158;ReadPosRankSum=-0.332000;SOR=1.16900;VarDP=76;AS_FS=3.41713;AS_MQ=40.3960;AS_MQRankSum=0.747000;AS_pab_max=0.391528;AS_QUALapprox=1374;AS_QD=20.5075;AS_ReadPosRankSum=0.747000;AS_SB_TABLE=12,17|14,32;AS_SOR=1.25976;AS_VarDP=67;inbreeding_coeff=-1.42229e-05;AS_culprit=AS_MQ;AS_VQSLOD=-1.66810;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|43772|10037|3994|1225|371|124|34|6|2|1|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|13847|25616|12298|5958|1723|96|17|7|5|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0;cadd_raw_score=0.134074;cadd_phred=2.41300;pangolin_largest_ds=0.00000;phylop=-0.0150000;VRS_Allele_IDs=ga4gh:VA.4RbrvEoDLODgpIvVUu-85CuMtqs5bSUl,ga4gh:VA.pOYiE03RzXjN6-7EhzQxemh-9n5LripJ;VRS_Starts=5030640,5030640;VRS_Ends=5030641,5030641;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1412C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1412C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1412C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1412C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1412C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1412C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1412C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1412C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1412C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030645	.	C	A	.	AC0	AC=0;AN=119166;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=61640;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=57526;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16682;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14044;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30726;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=392;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=382;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=774;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5404;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6642;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=12046;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1482;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1256;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2738;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1774;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2240;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4014;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2146;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6314;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8460;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=122;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=120;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=242;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=31916;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=22946;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=54862;nhomalt_nfe=0;AC_raw=1;AF_raw=7.11724e-06;AN_raw=140504;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=752;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=794;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1546;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=970;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2788;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3758;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=36.4810;MQRankSum=1.49500;QUALapprox=121;QD=5.50000;ReadPosRankSum=1.49500;SOR=0.663000;VarDP=22;AS_FS=0.00000;AS_MQ=35.9033;AS_MQRankSum=1.49500;AS_pab_max=0.453125;AS_QUALapprox=76;AS_QD=3.61905;AS_ReadPosRankSum=1.49500;AS_SB_TABLE=7,10|2,2;AS_SOR=0.424565;AS_VarDP=21;inbreeding_coeff=-7.11729e-06;AS_culprit=AS_QD;AS_VQSLOD=-2.03660;negative_train_site;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|43725|10089|4000|1226|370|130|34|5|1|1|2|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|13797|25663|12318|5956|1723|96|18|7|5|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.144892;cadd_phred=0.669000;phylop=0.789000;VRS_Allele_IDs=ga4gh:VA.megNPQy0yXPsRZnTqjv2XCzTVaGbk6nC,ga4gh:VA.vnIjppGYeXk0BPHdaWLbqJwhIC_dF-6U;VRS_Starts=5030644,5030644;VRS_Ends=5030645,5030645;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1408C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1408C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1408C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1408C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1408C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1408C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1408C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1408C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1408C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030646	rs1247490138	T	C	.	AS_VQSR	AC=2;AN=118710;AF=1.68478e-05;grpmax=afr;fafmax_faf95_max=1.08300e-05;fafmax_faf95_max_gen_anc=afr;AC_XX=1;AF_XX=1.62734e-05;AN_XX=61450;nhomalt_XX=0;AC_XY=1;AF_XY=1.74642e-05;AN_XY=57260;nhomalt_XY=0;nhomalt=0;AC_afr_XX=1;AF_afr_XX=6.02918e-05;AN_afr_XX=16586;nhomalt_afr_XX=0;AC_afr_XY=1;AF_afr_XY=7.15512e-05;AN_afr_XY=13976;nhomalt_afr_XY=0;AC_afr=2;AF_afr=6.54407e-05;AN_afr=30562;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=392;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=378;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=770;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5382;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6616;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11998;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1480;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1254;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2734;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1788;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2230;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4018;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2128;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6278;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8406;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=124;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=120;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=244;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=31848;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=22858;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=54706;nhomalt_nfe=0;AC_raw=3;AF_raw=2.13879e-05;AN_raw=140266;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=746;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=786;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1532;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=976;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2764;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3740;nhomalt_sas=0;AC_grpmax=2;AF_grpmax=6.54407e-05;AN_grpmax=30562;nhomalt_grpmax=0;faf95=2.80000e-06;faf95_afr=1.08300e-05;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=1.05000e-06;faf99_afr=4.05000e-06;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=4.05000e-06;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=0|0|1|0|0|0|0|0|0|0;age_hist_het_n_smaller=1;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=11.9506;MQ=34.3724;MQRankSum=0.572000;QUALapprox=683;QD=16.2619;ReadPosRankSum=-0.429000;SOR=0.0470000;VarDP=42;AS_FS=11.9506;AS_MQ=34.3724;AS_MQRankSum=0.572000;AS_pab_max=0.301758;AS_QUALapprox=683;AS_QD=16.2619;AS_ReadPosRankSum=-0.429000;AS_SB_TABLE=1,14|10,17;AS_SOR=0.0465050;AS_VarDP=42;inbreeding_coeff=-2.13884e-05;AS_culprit=AS_MQ;AS_VQSLOD=-5.32110;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|1|0;gq_hist_all_bin_freq=0|0|0|0|43598|10036|3968|1214|366|129|32|6|1|2|2|0|0|0|1|0;dp_hist_alt_bin_freq=0|0|0|2|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|13603|25631|12316|5958|1722|96|18|7|4|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|1|0|0|0|0;cadd_raw_score=0.0977920;cadd_phred=2.07100;phylop=-0.159000;VRS_Allele_IDs=ga4gh:VA.RhScERLVGrzOkmXDdeP1oYdWwsSMGpn3,ga4gh:VA.sOo34NjP-hKp_d5VhTUx5G2dvxqeSW6H;VRS_Starts=5030645,5030645;VRS_Ends=5030646,5030646;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1407T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1407T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1407T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1407T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1407T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1407T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1407T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1407T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1407T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030649	.	C	T	.	AC0;AS_VQSR	AC=0;AN=117886;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=60990;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=56896;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16464;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=13902;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30366;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=386;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=374;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=760;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5336;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6584;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11920;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1484;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1236;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2720;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1758;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2192;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3950;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2122;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6242;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8364;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=122;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=116;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=238;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=31604;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=22722;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=54326;nhomalt_nfe=0;AC_raw=10;AF_raw=7.15154e-05;AN_raw=139830;nhomalt_raw=2;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=746;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=782;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1528;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=968;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2746;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3714;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=4.39285;MQ=42.0880;MQRankSum=0.198000;QUALapprox=895;QD=4.28230;ReadPosRankSum=-0.857000;SOR=0.504000;VarDP=209;AS_FS=4.50172;AS_MQ=42.2712;AS_MQRankSum=0.198000;AS_pab_max=0.687500;AS_QUALapprox=864;AS_QD=4.25616;AS_ReadPosRankSum=-0.857000;AS_SB_TABLE=73,99|18,17;AS_SOR=0.507900;AS_VarDP=203;inbreeding_coeff=0.399957;AS_culprit=AS_QD;AS_VQSLOD=-2.74270;negative_train_site;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|43370|9954|3929|1186|345|119|30|6|2|1|0|1|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|13290|25514|12331|5960|1722|96|19|7|4|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0487150;cadd_phred=1.06000;phylop=-0.524000;VRS_Allele_IDs=ga4gh:VA.eeec5dpWR2-esnXdMYkgvB79p-JD4ASK,ga4gh:VA.rL6c3LdpBnUe5bDil_1qoazV5oQgH3r2;VRS_Starts=5030648,5030648;VRS_Ends=5030649,5030649;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1404C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1404C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1404C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1404C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1404C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1404C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1404C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1404C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1404C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030650	rs1192826417	C	G	.	AC0	AC=0;AN=118094;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=61090;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=57004;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16522;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=13918;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30440;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=384;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=380;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=764;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5356;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6608;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11964;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1478;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1246;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2724;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1754;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2200;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3954;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2120;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6228;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8348;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=118;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=118;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=236;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=31654;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=22766;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=54420;nhomalt_nfe=0;AC_raw=2;AF_raw=1.42931e-05;AN_raw=139928;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=738;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=784;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1522;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=966;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2756;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3722;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=5.99376;MQ=40.2769;MQRankSum=-0.815000;QUALapprox=2565;QD=9.09575;ReadPosRankSum=0.509000;SOR=0.427000;VarDP=282;AS_FS=0.00000;AS_MQ=40.2964;AS_MQRankSum=0.198000;AS_pab_max=0.453125;AS_QUALapprox=334;AS_QD=22.2667;AS_ReadPosRankSum=-1.49500;AS_SB_TABLE=61,116|3,7;AS_SOR=0.752942;AS_VarDP=15;inbreeding_coeff=1.00000;AS_culprit=AS_ReadPosRankSum;AS_VQSLOD=-2.38890;allele_type=snv;n_alt_alleles=4;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|43360|9971|3960|1221|352|135|35|6|2|1|0|0|0|0|0|4;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|13310|25576|12343|5968|1724|96|20|7|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0883730;cadd_phred=0.877000;phylop=-1.22600;VRS_Allele_IDs=ga4gh:VA.5V6pOwHDHAAfEvSppOGQgBCgDNXYgLge,ga4gh:VA.VKsHOiTshxdShz7NCeCdf8UeiNF7tY7H;VRS_Starts=5030649,5030649;VRS_Ends=5030650,5030650;VRS_States=C,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1403C>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1403C>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1403C>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1403C>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1403C>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1403C>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1403C>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1403C>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1403C>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030650	rs1192826417	C	T	.	PASS	AC=7;AN=118090;AF=5.92768e-05;grpmax=amr;fafmax_faf95_max=2.41400e-05;fafmax_faf95_max_gen_anc=nfe;AC_XX=4;AF_XX=6.54815e-05;AN_XX=61086;nhomalt_XX=0;AC_XY=3;AF_XY=5.26279e-05;AN_XY=57004;nhomalt_XY=1;nhomalt=1;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16518;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=13918;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30436;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=384;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=380;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=764;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5356;nhomalt_amr_XX=0;AC_amr_XY=1;AF_amr_XY=0.000151332;AN_amr_XY=6608;nhomalt_amr_XY=0;AC_amr=1;AF_amr=8.35841e-05;AN_amr=11964;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1478;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1246;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2724;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1754;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2200;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3954;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2120;nhomalt_fin_XX=0;AC_fin_XY=2;AF_fin_XY=0.000321130;AN_fin_XY=6228;nhomalt_fin_XY=1;AC_fin=2;AF_fin=0.000239578;AN_fin=8348;nhomalt_fin=1;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=118;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=118;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=236;nhomalt_mid=0;AC_nfe_XX=4;AF_nfe_XX=0.000126366;AN_nfe_XX=31654;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=22766;nhomalt_nfe_XY=0;AC_nfe=4;AF_nfe=7.35024e-05;AN_nfe=54420;nhomalt_nfe=0;AC_raw=11;AF_raw=7.86119e-05;AN_raw=139928;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=738;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=784;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1522;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=966;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2756;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3722;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=8.35841e-05;AN_grpmax=11964;nhomalt_grpmax=0;faf95=2.76000e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=2.41400e-05;faf95_sas=0.00000;faf99=1.88000e-05;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=1.45500e-05;faf99_sas=0.00000;fafmax_faf99_max=1.45500e-05;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|0|1|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|1|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=5.99376;MQ=40.2769;MQRankSum=-0.815000;QUALapprox=2565;QD=9.09575;ReadPosRankSum=0.509000;SOR=0.427000;VarDP=282;AS_FS=7.32506;AS_MQ=39.9672;AS_MQRankSum=-1.19100;AS_pab_max=0.831812;AS_QUALapprox=2138;AS_QD=8.94561;AS_ReadPosRankSum=0.509000;AS_SB_TABLE=61,116|39,52;AS_SOR=0.400785;AS_VarDP=239;inbreeding_coeff=0.181754;AS_culprit=AS_MQ;AS_VQSLOD=-2.33640;allele_type=snv;n_alt_alleles=4;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|1|0|1|0|0|0|0|0|0|0|0|0|4;gq_hist_all_bin_freq=0|0|0|0|43360|9971|3959|1221|352|134|35|6|2|1|0|0|0|0|0|4;dp_hist_alt_bin_freq=0|0|0|3|1|0|1|0|1|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|13309|25576|12342|5968|1724|96|20|7|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|1|1|1|0|0|1|0|0|0|0|0|1|0|0|0;cadd_raw_score=-0.0461010;cadd_phred=1.07300;pangolin_largest_ds=0.00000;phylop=-1.22600;VRS_Allele_IDs=ga4gh:VA.5V6pOwHDHAAfEvSppOGQgBCgDNXYgLge,ga4gh:VA.sWuX-YQ0c17g_IAUSLTgzpxp_JtMPUii;VRS_Starts=5030649,5030649;VRS_Ends=5030650,5030650;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1403C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1403C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1403C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1403C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1403C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1403C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1403C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1403C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1403C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030651	rs1445499039	G	A	.	AS_VQSR	AC=3;AN=118158;AF=2.53897e-05;grpmax=eas;AC_XX=2;AF_XX=3.27504e-05;AN_XX=61068;nhomalt_XX=0;AC_XY=1;AF_XY=1.75162e-05;AN_XY=57090;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16524;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14030;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30554;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=386;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=382;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=768;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5354;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6606;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11960;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1480;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1244;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2724;nhomalt_asj=0;AC_eas_XX=1;AF_eas_XX=0.000575374;AN_eas_XX=1738;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2188;nhomalt_eas_XY=0;AC_eas=1;AF_eas=0.000254712;AN_eas=3926;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2138;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6246;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8384;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=106;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=110;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=216;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=3.16316e-05;AN_nfe_XX=31614;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=22706;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=1.84094e-05;AN_nfe=54320;nhomalt_nfe=0;AC_raw=42;AF_raw=0.000299773;AN_raw=140106;nhomalt_raw=7;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=768;nhomalt_remaining_XX=0;AC_remaining_XY=1;AF_remaining_XY=0.00125313;AN_remaining_XY=798;nhomalt_remaining_XY=0;AC_remaining=1;AF_remaining=0.000638570;AN_remaining=1566;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=960;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2780;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3740;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000254712;AN_grpmax=3926;nhomalt_grpmax=0;faf95=6.75000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=2.87000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|1|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=7.92422;MQ=37.5707;MQRankSum=0.691000;QUALapprox=3617;QD=6.15136;ReadPosRankSum=0.358000;SOR=0.340000;VarDP=588;AS_FS=7.98478;AS_MQ=37.4771;AS_MQRankSum=0.736000;AS_pab_max=1.00000;AS_QUALapprox=3508;AS_QD=6.09028;AS_ReadPosRankSum=0.358000;AS_SB_TABLE=146,256|86,96;AS_SOR=0.341246;AS_VarDP=576;inbreeding_coeff=0.333133;AS_culprit=AS_MQ;AS_VQSLOD=-2.53630;negative_train_site;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|3;gq_hist_all_bin_freq=0|0|0|0|43275|10024|3971|1229|353|129|30|6|2|1|0|0|0|0|0|3;dp_hist_alt_bin_freq=0|0|1|0|1|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|13226|25618|12355|5974|1723|96|19|7|5|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|1|0|0|0|0|1|0|1|0|0|0|0|0|0;cadd_raw_score=-0.173447;cadd_phred=0.582000;pangolin_largest_ds=0.00000;phylop=-1.89400;VRS_Allele_IDs=ga4gh:VA.o2XTkm8p8QDPZ3JrZkUlm6umN_rlISxe,ga4gh:VA.pug8O8mywGhR4g_1yQn6jxXfBGueudBk;VRS_Starts=5030650,5030650;VRS_Ends=5030651,5030651;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1402G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1402G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1402G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1402G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1402G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1402G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1402G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1402G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1402G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030652	rs1265349135	G	A	.	PASS	AC=2;AN=118234;AF=1.69156e-05;grpmax=nfe;fafmax_faf95_max=6.10000e-06;fafmax_faf95_max_gen_anc=nfe;AC_XX=0;AF_XX=0.00000;AN_XX=61150;nhomalt_XX=0;AC_XY=2;AF_XY=3.50361e-05;AN_XY=57084;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16548;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=13960;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30508;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=384;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=382;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=766;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5364;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6612;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11976;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1472;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1242;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2714;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1738;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2198;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3936;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2132;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6282;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8414;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=118;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=120;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=238;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=31674;nhomalt_nfe_XX=0;AC_nfe_XY=2;AF_nfe_XY=8.80669e-05;AN_nfe_XY=22710;nhomalt_nfe_XY=0;AC_nfe=2;AF_nfe=3.67755e-05;AN_nfe=54384;nhomalt_nfe=0;AC_raw=2;AF_raw=1.42714e-05;AN_raw=140140;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=746;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=792;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1538;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=974;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2786;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3760;nhomalt_sas=0;AC_grpmax=2;AF_grpmax=3.67755e-05;AN_grpmax=54384;nhomalt_grpmax=0;faf95=2.81000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=6.10000e-06;faf95_sas=0.00000;faf99=1.05000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=2.28000e-06;faf99_sas=0.00000;fafmax_faf99_max=2.28000e-06;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|1|0|1|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=4.46848;MQ=41.9645;MQRankSum=0.664000;QUALapprox=2011;QD=11.4914;ReadPosRankSum=0.337000;SOR=0.429000;VarDP=175;AS_FS=7.97998;AS_MQ=42.2911;AS_MQRankSum=0.664000;AS_pab_max=0.168638;AS_QUALapprox=1225;AS_QD=9.87903;AS_ReadPosRankSum=1.03200;AS_SB_TABLE=35,57|26,25;AS_SOR=0.380939;AS_VarDP=124;inbreeding_coeff=-1.42716e-05;AS_culprit=AS_MQ;AS_VQSLOD=-1.85520;negative_train_site;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|43306|10021|4000|1250|361|136|31|7|2|1|0|0|0|0|0|2;dp_hist_alt_bin_freq=0|0|0|0|0|1|0|0|1|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|13258|25663|12371|5974|1724|96|20|7|4|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|1|0|0;cadd_raw_score=0.134058;cadd_phred=2.41300;pangolin_largest_ds=0.00000;phylop=0.782000;VRS_Allele_IDs=ga4gh:VA.gJyb_euYhNYneTgzn3cCaMKaSDZlV4hQ,ga4gh:VA.CLc9xC0hGUOhPi2c6F705Gd2sTX6wEhr;VRS_Starts=5030651,5030651;VRS_Ends=5030652,5030652;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1401G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1401G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1401G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1401G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1401G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1401G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1401G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1401G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1401G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030652	rs1265349135	G	C	.	PASS	AC=3;AN=118234;AF=2.53734e-05;grpmax=nfe;fafmax_faf95_max=1.46400e-05;fafmax_faf95_max_gen_anc=nfe;AC_XX=0;AF_XX=0.00000;AN_XX=61150;nhomalt_XX=0;AC_XY=3;AF_XY=5.25541e-05;AN_XY=57084;nhomalt_XY=1;nhomalt=1;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16548;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=13960;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30508;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=384;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=382;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=766;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5364;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6612;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11976;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1472;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1242;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2714;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1738;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2198;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3936;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2132;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6282;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8414;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=118;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=120;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=238;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=31674;nhomalt_nfe_XX=0;AC_nfe_XY=3;AF_nfe_XY=0.000132100;AN_nfe_XY=22710;nhomalt_nfe_XY=1;AC_nfe=3;AF_nfe=5.51633e-05;AN_nfe=54384;nhomalt_nfe=1;AC_raw=3;AF_raw=2.14072e-05;AN_raw=140140;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=746;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=792;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1538;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=974;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2786;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3760;nhomalt_sas=0;AC_grpmax=3;AF_grpmax=5.51633e-05;AN_grpmax=54384;nhomalt_grpmax=1;faf95=6.74000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=1.46400e-05;faf95_sas=0.00000;faf99=2.87000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=7.06000e-06;faf99_sas=0.00000;fafmax_faf99_max=7.06000e-06;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|0|0|1|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|1|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=4.46848;MQ=41.9645;MQRankSum=0.664000;QUALapprox=2011;QD=11.4914;ReadPosRankSum=0.337000;SOR=0.429000;VarDP=175;AS_FS=4.82164e-16;AS_MQ=41.1532;AS_MQRankSum=0.775000;AS_pab_max=0.200488;AS_QUALapprox=786;AS_QD=15.4118;AS_ReadPosRankSum=-1.20500;AS_SB_TABLE=35,57|12,20;AS_SOR=0.695800;AS_VarDP=51;inbreeding_coeff=0.666660;AS_culprit=AS_MQ;AS_VQSLOD=-2.47890;negative_train_site;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|43306|10021|4000|1250|361|136|31|7|2|1|0|0|0|0|0|2;dp_hist_alt_bin_freq=0|0|0|0|1|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|13258|25663|12371|5974|1724|96|20|7|4|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0973630;cadd_phred=2.06800;pangolin_largest_ds=0.00000;phylop=0.782000;VRS_Allele_IDs=ga4gh:VA.gJyb_euYhNYneTgzn3cCaMKaSDZlV4hQ,ga4gh:VA.gfdSzQk0rpgL5VeFFMimDSvIhmpxGJ95;VRS_Starts=5030651,5030651;VRS_Ends=5030652,5030652;VRS_States=G,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1401G>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1401G>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1401G>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1401G>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1401G>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1401G>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1401G>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1401G>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1401G>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030655	.	G	A	.	AC0	AC=0;AN=117840;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=60942;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=56898;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16510;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=13892;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30402;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=386;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=380;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=766;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5362;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6602;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11964;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1478;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1248;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2726;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1726;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2186;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3912;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2126;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6248;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8374;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=122;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=116;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=238;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=31520;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=22670;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=54190;nhomalt_nfe=0;AC_raw=1;AF_raw=7.14439e-06;AN_raw=139970;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=738;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=784;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1522;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=974;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2772;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3746;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.72419;MQ=42.0602;MQRankSum=0.157000;QUALapprox=114;QD=2.28000;ReadPosRankSum=0.198000;SOR=0.346000;VarDP=50;AS_FS=1.72419;AS_MQ=42.0602;AS_MQRankSum=0.157000;AS_pab_max=0.453125;AS_QUALapprox=114;AS_QD=2.28000;AS_ReadPosRankSum=0.198000;AS_SB_TABLE=17,27|3,3;AS_SOR=0.345903;AS_VarDP=50;inbreeding_coeff=-7.14444e-06;AS_culprit=AS_QD;AS_VQSLOD=-2.27170;negative_train_site;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|43095|10052|3992|1237|364|138|32|7|2|1|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|13031|25682|12380|5978|1723|96|19|7|4|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.148718;cadd_phred=2.56200;phylop=0.782000;VRS_Allele_IDs=ga4gh:VA.j9WckBAJWJ_wAsOq8c0O3LYXwwQJRHsh,ga4gh:VA.eAZmrf2AbXeECBKZQyd77dThI3lfJsgS;VRS_Starts=5030654,5030654;VRS_Ends=5030655,5030655;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1398G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1398G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1398G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1398G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1398G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1398G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1398G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1398G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1398G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030656	.	G	A	.	AC0;AS_VQSR	AC=0;AN=117852;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=60978;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=56874;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16530;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=13884;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30414;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=386;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=380;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=766;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5378;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6588;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11966;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1472;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1246;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2718;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1728;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2176;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3904;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2128;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6286;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8414;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=122;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=118;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=240;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=31522;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=22650;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=54172;nhomalt_nfe=0;AC_raw=2;AF_raw=1.42867e-05;AN_raw=139990;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=742;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=780;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1522;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=970;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2766;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3736;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=4.63202;MQ=36.7057;MQRankSum=2.04100;QUALapprox=120;QD=4.80000;ReadPosRankSum=-0.354000;SOR=0.148000;VarDP=25;AS_FS=2.53901;AS_MQ=33.2437;AS_MQRankSum=2.04100;AS_pab_max=0.0385742;AS_QUALapprox=104;AS_QD=7.42857;AS_ReadPosRankSum=-0.537000;AS_SB_TABLE=5,14|2,2;AS_SOR=0.148420;AS_VarDP=14;inbreeding_coeff=1.00000;AS_culprit=AS_MQ;AS_VQSLOD=-4.03590;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|43092|10069|3990|1240|357|137|32|7|1|1|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|13059|25659|12379|5978|1724|97|19|7|4|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.154372;cadd_phred=2.62100;phylop=0.782000;VRS_Allele_IDs=ga4gh:VA.ETXRyoygh_fOnJ2IAQ7aF8ITCu48-vps,ga4gh:VA.yOt2W4JiV8kWYT6qlWEnV_TNE01094ue;VRS_Starts=5030655,5030655;VRS_Ends=5030656,5030656;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1397G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1397G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1397G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1397G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1397G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1397G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1397G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1397G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1397G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030663	.	C	A	.	AC0	AC=0;AN=116762;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=60406;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=56356;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16360;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=13770;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30130;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=384;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=378;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=762;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5340;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6578;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11918;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1462;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1234;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2696;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1694;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2132;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3826;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2120;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6210;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8330;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=120;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=116;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=236;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=31232;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=22450;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=53682;nhomalt_nfe=0;AC_raw=1;AF_raw=7.17185e-06;AN_raw=139434;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=724;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=776;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1500;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=970;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2712;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3682;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.50378;MQ=41.8895;MQRankSum=-0.296000;QUALapprox=219;QD=4.65957;ReadPosRankSum=-0.632000;SOR=0.407000;VarDP=47;AS_FS=0.00000;AS_MQ=43.7645;AS_MQRankSum=-0.720000;AS_pab_max=0.687500;AS_QUALapprox=72;AS_QD=12.0000;AS_ReadPosRankSum=-1.38000;AS_SB_TABLE=16,23|1,1;AS_SOR=0.406622;AS_VarDP=6;inbreeding_coeff=-7.17190e-06;AS_culprit=AS_ReadPosRankSum;AS_VQSLOD=-2.43580;negative_train_site;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|42627|10033|3958|1229|355|137|31|8|2|1|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|12600|25568|12376|5986|1725|96|19|7|4|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.156706;cadd_phred=2.64600;phylop=0.789000;VRS_Allele_IDs=ga4gh:VA.-kZUD_96fIAxl79KaIQwebngIVJv51m0,ga4gh:VA.i1sjZHRYAq55QmboSF5pT6a9R8KQoBs-;VRS_Starts=5030662,5030662;VRS_Ends=5030663,5030663;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1390C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1390C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1390C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1390C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1390C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1390C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1390C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1390C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1390C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030663	rs1347008999	C	T	.	PASS	AC=1;AN=116760;AF=8.56458e-06;grpmax=afr;AC_XX=1;AF_XX=1.65552e-05;AN_XX=60404;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=56356;nhomalt_XY=0;nhomalt=0;AC_afr_XX=1;AF_afr_XX=6.11322e-05;AN_afr_XX=16358;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=13770;nhomalt_afr_XY=0;AC_afr=1;AF_afr=3.31917e-05;AN_afr=30128;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=384;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=378;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=762;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5340;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6578;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11918;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1462;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1234;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2696;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1694;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2132;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3826;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2120;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6210;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8330;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=120;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=116;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=236;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=31232;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=22450;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=53682;nhomalt_nfe=0;AC_raw=2;AF_raw=1.43437e-05;AN_raw=139434;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=724;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=776;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1500;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=970;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2712;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3682;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=3.31917e-05;AN_grpmax=30128;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.50378;MQ=41.8895;MQRankSum=-0.296000;QUALapprox=219;QD=4.65957;ReadPosRankSum=-0.632000;SOR=0.407000;VarDP=47;AS_FS=0.00000;AS_MQ=39.2434;AS_MQRankSum=0.480000;AS_pab_max=0.109375;AS_QUALapprox=111;AS_QD=4.82609;AS_ReadPosRankSum=1.27100;AS_SB_TABLE=16,23|2,2;AS_SOR=0.406622;AS_VarDP=23;inbreeding_coeff=-1.43439e-05;AS_culprit=AS_QD;AS_VQSLOD=-1.95630;negative_train_site;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|42627|10033|3958|1229|355|137|30|8|2|1|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|12599|25568|12376|5986|1725|96|19|7|4|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.216231;cadd_phred=3.31000;pangolin_largest_ds=0.00000;phylop=0.789000;VRS_Allele_IDs=ga4gh:VA.-kZUD_96fIAxl79KaIQwebngIVJv51m0,ga4gh:VA.zTDG5RCqcljc_d_tcncJKZRIt6Y1wRQY;VRS_Starts=5030662,5030662;VRS_Ends=5030663,5030663;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1390C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1390C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1390C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1390C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1390C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1390C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1390C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1390C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1390C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030672	.	T	C	.	AC0	AC=0;AN=114516;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=59360;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=55156;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16058;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=13486;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=29544;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=386;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=372;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=758;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5280;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6480;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11760;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1436;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1216;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2652;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1626;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2004;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3630;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2084;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6086;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8170;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=114;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=114;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=228;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=30722;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=21966;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=52688;nhomalt_nfe=0;AC_raw=3;AF_raw=2.16935e-05;AN_raw=138290;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=718;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=760;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1478;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=936;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2672;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3608;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=12.4510;MQ=43.4548;MQRankSum=0.804000;QUALapprox=1148;QD=8.20000;ReadPosRankSum=0.198000;SOR=0.695000;VarDP=140;AS_FS=5.41766;AS_MQ=43.4435;AS_MQRankSum=0.804000;AS_pab_max=1.00000;AS_QUALapprox=396;AS_QD=3.66667;AS_ReadPosRankSum=0.198000;AS_SB_TABLE=38,63|9,8;AS_SOR=0.473688;AS_VarDP=108;inbreeding_coeff=-2.16940e-05;AS_culprit=AS_QD;AS_VQSLOD=-1.88360;negative_train_site;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|41680|9950|3901|1210|348|130|28|7|1|3|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|11806|25247|12364|5988|1726|98|18|7|4|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0277650;cadd_phred=1.17100;phylop=-0.530000;VRS_Allele_IDs=ga4gh:VA.fsiGCeYpnZxxmhG-_ZleArrH00bEWZJ5,ga4gh:VA.rtMnW8kcRLjMZrO1NIfhvMSFhMNAmkXM;VRS_Starts=5030671,5030671;VRS_Ends=5030672,5030672;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1381T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1381T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1381T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1381T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1381T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1381T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1381T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1381T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1381T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030672	rs1987116135	T	G	.	PASS	AC=2;AN=114518;AF=1.74645e-05;grpmax=nfe;fafmax_faf95_max=6.29000e-06;fafmax_faf95_max_gen_anc=nfe;AC_XX=2;AF_XX=3.36927e-05;AN_XX=59360;nhomalt_XX=1;AC_XY=0;AF_XY=0.00000;AN_XY=55158;nhomalt_XY=0;nhomalt=1;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16058;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=13486;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=29544;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=386;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=372;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=758;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5280;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6480;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11760;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1436;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1216;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2652;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1626;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2004;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3630;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2084;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6086;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8170;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=114;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=114;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=228;nhomalt_mid=0;AC_nfe_XX=2;AF_nfe_XX=6.50999e-05;AN_nfe_XX=30722;nhomalt_nfe_XX=1;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=21968;nhomalt_nfe_XY=0;AC_nfe=2;AF_nfe=3.79579e-05;AN_nfe=52690;nhomalt_nfe=1;AC_raw=2;AF_raw=1.44624e-05;AN_raw=138290;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=718;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=760;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1478;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=936;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2672;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3608;nhomalt_sas=0;AC_grpmax=2;AF_grpmax=3.79579e-05;AN_grpmax=52690;nhomalt_grpmax=1;faf95=2.90000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=6.29000e-06;faf95_sas=0.00000;faf99=1.09000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=2.36000e-06;faf99_sas=0.00000;fafmax_faf99_max=2.36000e-06;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=12.4510;MQ=43.4548;MQRankSum=0.804000;QUALapprox=1148;QD=8.20000;ReadPosRankSum=0.198000;SOR=0.695000;VarDP=140;AS_FS=10.2931;AS_MQ=43.4946;AS_MQRankSum=1.38000;AS_pab_max=0.687500;AS_QUALapprox=752;AS_QD=23.5000;AS_ReadPosRankSum=0.572000;AS_SB_TABLE=38,63|13,9;AS_SOR=0.846442;AS_VarDP=32;inbreeding_coeff=1.00000;AS_culprit=AS_MQ;AS_VQSLOD=-1.93630;negative_train_site;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|41681|9950|3901|1210|348|130|28|7|1|3|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|11806|25247|12365|5988|1726|98|18|7|4|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0591700;cadd_phred=1.00800;pangolin_largest_ds=0.00000;phylop=-0.530000;VRS_Allele_IDs=ga4gh:VA.fsiGCeYpnZxxmhG-_ZleArrH00bEWZJ5,ga4gh:VA.GjuGTMovLAjN-JZXUbFvP1ZT-SmdgUPU;VRS_Starts=5030671,5030671;VRS_Ends=5030672,5030672;VRS_States=T,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1381T>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1381T>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1381T>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1381T>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1381T>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1381T>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1381T>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1381T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1381T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030673	rs1220715680	G	A	.	PASS	AC=21;AN=115196;AF=0.000182298;grpmax=amr;fafmax_faf95_max=0.000458480;fafmax_faf95_max_gen_anc=amr;AC_XX=10;AF_XX=0.000167690;AN_XX=59634;nhomalt_XX=1;AC_XY=11;AF_XY=0.000197977;AN_XY=55562;nhomalt_XY=1;nhomalt=2;AC_afr_XX=2;AF_afr_XX=0.000123747;AN_afr_XX=16162;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=13632;nhomalt_afr_XY=0;AC_afr=2;AF_afr=6.71276e-05;AN_afr=29794;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=388;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=372;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=760;nhomalt_ami=0;AC_amr_XX=2;AF_amr_XX=0.000377929;AN_amr_XX=5292;nhomalt_amr_XX=0;AC_amr_XY=8;AF_amr_XY=0.00122399;AN_amr_XY=6536;nhomalt_amr_XY=0;AC_amr=10;AF_amr=0.000845451;AN_amr=11828;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1440;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1218;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2658;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1628;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2018;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3646;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2096;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6138;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8234;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=114;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=212;nhomalt_mid=0;AC_nfe_XX=6;AF_nfe_XX=0.000194426;AN_nfe_XX=30860;nhomalt_nfe_XX=1;AC_nfe_XY=3;AF_nfe_XY=0.000135931;AN_nfe_XY=22070;nhomalt_nfe_XY=1;AC_nfe=9;AF_nfe=0.000170036;AN_nfe=52930;nhomalt_nfe=2;AC_raw=24;AF_raw=0.000172893;AN_raw=138814;nhomalt_raw=3;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=740;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=774;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1514;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=930;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2690;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3620;nhomalt_sas=0;AC_grpmax=10;AF_grpmax=0.000845451;AN_grpmax=11828;nhomalt_grpmax=0;faf95=0.000121860;faf95_afr=1.11100e-05;faf95_amr=0.000458480;faf95_eas=0.00000;faf95_nfe=8.86900e-05;faf95_sas=0.00000;faf99=0.000102090;faf99_afr=4.16000e-06;faf99_amr=0.000348290;faf99_eas=0.00000;faf99_nfe=6.56300e-05;faf99_sas=0.00000;fafmax_faf99_max=0.000348290;fafmax_faf99_max_gen_anc=amr;age_hist_het_bin_freq=0|0|0|0|0|1|1|0|1|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|1|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=3.39693;MQ=42.5606;MQRankSum=0.600000;QUALapprox=20438;QD=17.8498;ReadPosRankSum=0.317000;SOR=0.476000;VarDP=1145;AS_FS=3.39664;AS_MQ=42.5542;AS_MQRankSum=0.670000;AS_pab_max=1.00000;AS_QUALapprox=20417;AS_QD=17.9727;AS_ReadPosRankSum=0.353000;AS_SB_TABLE=169,246|341,387;AS_SOR=0.476047;AS_VarDP=1136;inbreeding_coeff=0.249870;AS_culprit=AS_MQ;AS_VQSLOD=-1.58670;negative_train_site;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|2|0|0|0|1|0|0|0|0|0|0|0|1|0|2|13;gq_hist_all_bin_freq=0|0|0|0|41784|10008|3957|1228|363|142|34|10|1|4|0|0|1|0|2|13;dp_hist_alt_bin_freq=0|0|3|3|5|0|3|3|1|1|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|11973|25331|12393|5988|1729|101|19|9|4|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|0|1|1|1|2|1|0|1|2|1|3|2|1|0|0;cadd_raw_score=-0.00710900;cadd_phred=1.29100;pangolin_largest_ds=0.00000;phylop=-1.31100;VRS_Allele_IDs=ga4gh:VA.fBDcQIxjQeoKGiOnsokuJOjpvtC7cbwd,ga4gh:VA.HjAYYPVatjsBAmCPVhYdkGsYw3o92ESc;VRS_Starts=5030672,5030672;VRS_Ends=5030673,5030673;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1380G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1380G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1380G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1380G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1380G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1380G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1380G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1380G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1380G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030675	rs1987116227	T	C	.	PASS	AC=1;AN=114736;AF=8.71566e-06;grpmax=afr;AC_XX=1;AF_XX=1.68277e-05;AN_XX=59426;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=55310;nhomalt_XY=0;nhomalt=0;AC_afr_XX=1;AF_afr_XX=6.21427e-05;AN_afr_XX=16092;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=13540;nhomalt_afr_XY=0;AC_afr=1;AF_afr=3.37473e-05;AN_afr=29632;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=384;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=374;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=758;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5276;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6508;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11784;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1432;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1214;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2646;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1628;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2000;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3628;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2082;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6106;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8188;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=114;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=114;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=228;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=30766;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=22018;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=52784;nhomalt_nfe=0;AC_raw=2;AF_raw=1.44294e-05;AN_raw=138606;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=718;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=758;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1476;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=934;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2678;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3612;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=3.37473e-05;AN_grpmax=29632;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=1;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=42.6509;MQRankSum=1.23100;QUALapprox=684;QD=11.4000;ReadPosRankSum=-0.198000;SOR=0.816000;VarDP=60;AS_FS=1.04601;AS_MQ=42.2090;AS_MQRankSum=0.139000;AS_pab_max=0.453125;AS_QUALapprox=612;AS_QD=11.1273;AS_ReadPosRankSum=-0.198000;AS_SB_TABLE=12,21|8,17;AS_SOR=0.874090;AS_VarDP=55;inbreeding_coeff=-1.44296e-05;AS_culprit=AS_MQ;AS_VQSLOD=-1.82390;negative_train_site;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|41638|9985|3949|1243|353|144|41|9|1|4|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|11856|25276|12388|5990|1728|100|18|8|4|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0;cadd_raw_score=0.135884;cadd_phred=2.43100;pangolin_largest_ds=0.00000;phylop=-0.166000;VRS_Allele_IDs=ga4gh:VA.1Y5Y0FzQx36J4qIK6YG5t_-d2rcUJBDD,ga4gh:VA.rEXu8CjLxoALjvt5CYn24dLUB87-Rsbz;VRS_Starts=5030674,5030674;VRS_Ends=5030675,5030675;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1378T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1378T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1378T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1378T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1378T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1378T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1378T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1378T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1378T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030676	rs1987116280	G	T	.	AC0;AS_VQSR	AC=0;AN=114122;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=59118;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=55004;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=15982;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=13442;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=29424;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=382;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=368;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=750;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5248;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6464;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11712;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1430;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1204;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2634;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1610;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1986;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3596;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2084;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6096;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8180;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=114;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=116;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=230;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=30614;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=21906;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=52520;nhomalt_nfe=0;AC_raw=8;AF_raw=5.79399e-05;AN_raw=138074;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=718;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=760;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1478;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=936;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2662;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3598;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=12.8412;MQ=40.8556;MQRankSum=0.736000;QUALapprox=1051;QD=4.45339;ReadPosRankSum=-0.752000;SOR=0.223000;VarDP=236;AS_FS=14.1358;AS_MQ=41.5145;AS_MQRankSum=0.736000;AS_pab_max=1.00000;AS_QUALapprox=913;AS_QD=4.58794;AS_ReadPosRankSum=-0.474000;AS_SB_TABLE=60,132|19,19;AS_SOR=0.190915;AS_VarDP=199;inbreeding_coeff=0.249957;AS_culprit=AS_QD;AS_VQSLOD=-3.17490;negative_train_site;allele_type=snv;n_alt_alleles=3;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|41461|9966|3934|1197|345|119|29|6|2|2|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|11699|25144|12374|5987|1728|100|18|8|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.193040;cadd_phred=0.529000;phylop=-1.31900;VRS_Allele_IDs=ga4gh:VA.ITuvF14TkbswfvXCqNB6g2L7lBlV17CB,ga4gh:VA.0Z0gmxE37iqcvYZ4VBtAuqXi3oT_D71p;VRS_Starts=5030675,5030675;VRS_Ends=5030676,5030676;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1377G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1377G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1377G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1377G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1377G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1377G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1377G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1377G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1377G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030682	.	T	C	.	AC0;AS_VQSR	AC=0;AN=112722;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=58378;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=54344;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=15752;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=13284;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=29036;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=374;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=368;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=742;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5228;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6420;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11648;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1406;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1182;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2588;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1526;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1896;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3422;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2072;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5988;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8060;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=106;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=112;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=218;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=30284;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=21702;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=51986;nhomalt_nfe=0;AC_raw=5;AF_raw=3.64362e-05;AN_raw=137226;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=714;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=748;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1462;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=916;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2644;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3560;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=7.10770;MQ=42.5072;MQRankSum=0.572000;QUALapprox=405;QD=3.55263;ReadPosRankSum=-0.747000;SOR=0.406000;VarDP=114;AS_FS=7.91229;AS_MQ=42.3267;AS_MQRankSum=0.572000;AS_pab_max=1.00000;AS_QUALapprox=343;AS_QD=3.57292;AS_ReadPosRankSum=-0.747000;AS_SB_TABLE=33,62|9,7;AS_SOR=0.617215;AS_VarDP=96;inbreeding_coeff=0.399978;AS_culprit=AS_QD;AS_VQSLOD=-2.54280;negative_train_site;allele_type=snv;n_alt_alleles=3;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|40898|9894|3875|1194|339|124|28|6|1|2|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|11260|24885|12369|5990|1728|99|18|9|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.00335700;cadd_phred=1.35700;phylop=-2.22600;VRS_Allele_IDs=ga4gh:VA.0rGvtEhuWDnRHG2V9wklbhvl6TZDNT0O,ga4gh:VA.QXrdk7EhE_PpQZMNO6LJjOQ-uLlvF9-O;VRS_Starts=5030681,5030681;VRS_Ends=5030682,5030682;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1371T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1371T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1371T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1371T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1371T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1371T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1371T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1371T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1371T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030683	.	G	A	.	AC0;AS_VQSR	AC=0;AN=112666;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=58366;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=54300;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=15800;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=13288;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=29088;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=372;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=368;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=740;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5226;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6436;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11662;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1410;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1182;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2592;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1504;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1872;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3376;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2074;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6032;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8106;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=108;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=110;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=218;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=30252;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=21634;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=51886;nhomalt_nfe=0;AC_raw=2;AF_raw=1.45890e-05;AN_raw=137090;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=706;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=738;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1444;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=914;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2640;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3554;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=4.82164e-16;MQ=39.2435;MQRankSum=0.804000;QUALapprox=198;QD=5.07692;ReadPosRankSum=-1.58900;SOR=0.668000;VarDP=39;AS_FS=4.82164e-16;AS_MQ=39.2435;AS_MQRankSum=0.804000;AS_pab_max=1.00000;AS_QUALapprox=198;AS_QD=5.07692;AS_ReadPosRankSum=-1.58900;AS_SB_TABLE=12,19|3,5;AS_SOR=0.668150;AS_VarDP=39;inbreeding_coeff=1.00000;AS_culprit=AS_ReadPosRankSum;AS_VQSLOD=-3.74840;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|40777|9918|3924|1202|345|127|30|7|1|2|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|11226|24865|12390|5993|1729|100|18|9|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.00240200;cadd_phred=1.35000;phylop=-0.533000;VRS_Allele_IDs=ga4gh:VA.Mvlk86kMpfSpfkzspJg4TZZIApBK3gDs,ga4gh:VA.LiziQ2shzn-mPqEcv8n1RpzyigmDKwdl;VRS_Starts=5030682,5030682;VRS_Ends=5030683,5030683;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1370G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1370G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1370G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1370G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1370G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1370G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1370G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1370G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1370G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030685	.	G	A	.	AC0	AC=0;AN=112674;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=58342;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=54332;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=15812;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=13268;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=29080;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=374;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=370;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=744;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5230;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6438;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11668;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1404;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1184;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2588;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1498;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1880;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3378;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2066;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6024;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8090;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=110;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=110;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=220;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=30224;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=21674;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=51898;nhomalt_nfe=0;AC_raw=2;AF_raw=1.45726e-05;AN_raw=137244;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=704;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=744;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1448;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=920;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2640;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3560;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=10.8353;MQ=37.6005;MQRankSum=1.27100;QUALapprox=113;QD=2.89744;ReadPosRankSum=0.537000;SOR=0.505000;VarDP=39;AS_FS=10.8353;AS_MQ=37.6005;AS_MQRankSum=1.27100;AS_pab_max=0.375000;AS_QUALapprox=113;AS_QD=2.89744;AS_ReadPosRankSum=0.537000;AS_SB_TABLE=7,25|4,3;AS_SOR=0.505114;AS_VarDP=39;inbreeding_coeff=-1.45728e-05;AS_culprit=AS_QD;AS_VQSLOD=-1.93350;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|40736|9924|3945|1204|353|135|31|6|1|2|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|11234|24864|12386|5995|1728|100|18|9|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.000799000;cadd_phred=1.33000;phylop=-0.0320000;VRS_Allele_IDs=ga4gh:VA.mEVy8qCSlPVw-rnX5TNU5Y_s7KoHO00l,ga4gh:VA.LhIBNNKZcHWt426R5LDr1yaUSgV_X-rL;VRS_Starts=5030684,5030684;VRS_Ends=5030685,5030685;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1368G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1368G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1368G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1368G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1368G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1368G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1368G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1368G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1368G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030688	.	G	T	.	AC0	AC=0;AN=112144;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=58104;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=54040;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=15750;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=13196;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=28946;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=374;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=364;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=738;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5204;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6402;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11606;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1398;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1176;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2574;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1476;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1850;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3326;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2062;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6024;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8086;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=110;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=110;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=220;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=30116;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=21550;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=51666;nhomalt_nfe=0;AC_raw=1;AF_raw=7.30674e-06;AN_raw=136860;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=700;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=734;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1434;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=914;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2634;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3548;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=3.46010;MQ=42.5449;MQRankSum=0.493000;QUALapprox=289;QD=6.88095;ReadPosRankSum=0.922000;SOR=0.206000;VarDP=42;AS_FS=2.30863;AS_MQ=38.0019;AS_MQRankSum=1.49500;AS_pab_max=0.453125;AS_QUALapprox=97;AS_QD=6.92857;AS_ReadPosRankSum=0.922000;AS_SB_TABLE=10,22|2,2;AS_SOR=0.205984;AS_VarDP=14;inbreeding_coeff=-7.30679e-06;AS_culprit=AS_MQ;AS_VQSLOD=-2.30230;negative_train_site;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|40511|9898|3939|1202|350|134|29|6|1|2|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|11085|24759|12373|5997|1728|100|19|8|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.121131;cadd_phred=2.28700;phylop=-0.622000;VRS_Allele_IDs=ga4gh:VA.efzeZUA82O-CRGC_x1qpG5vVBypQfPWC,ga4gh:VA.3orRFZK3iAQ2a_PVBAtcNm2s4xBTbBSF;VRS_Starts=5030687,5030687;VRS_Ends=5030688,5030688;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1365G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1365G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1365G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1365G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1365G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1365G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1365G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1365G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1365G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030689	rs1987116314	C	T	.	PASS	AC=4;AN=111682;AF=3.58160e-05;grpmax=nfe;fafmax_faf95_max=2.61200e-05;fafmax_faf95_max_gen_anc=nfe;AC_XX=4;AF_XX=6.92018e-05;AN_XX=57802;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=53880;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=15680;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=13204;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=28884;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=368;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=362;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=730;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5182;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6402;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11584;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1388;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1164;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2552;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1464;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1844;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3308;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2046;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5932;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7978;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=94;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=106;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=200;nhomalt_mid=0;AC_nfe_XX=4;AF_nfe_XX=0.000133494;AN_nfe_XX=29964;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=21506;nhomalt_nfe_XY=0;AC_nfe=4;AF_nfe=7.77152e-05;AN_nfe=51470;nhomalt_nfe=0;AC_raw=14;AF_raw=0.000102524;AN_raw=136554;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=712;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=748;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1460;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=904;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2612;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3516;nhomalt_sas=0;AC_grpmax=4;AF_grpmax=7.77152e-05;AN_grpmax=51470;nhomalt_grpmax=0;faf95=1.13700e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=2.61200e-05;faf95_sas=0.00000;faf99=6.64000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=1.52100e-05;faf99_sas=0.00000;fafmax_faf99_max=1.52100e-05;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|2|0|0|0|1|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=16.3231;MQ=38.7977;MQRankSum=0.720000;QUALapprox=2044;QD=6.02950;ReadPosRankSum=-0.421000;SOR=1.45200;VarDP=339;AS_FS=20.3469;AS_MQ=39.0087;AS_MQRankSum=0.358000;AS_pab_max=1.00000;AS_QUALapprox=1956;AS_QD=6.65306;AS_ReadPosRankSum=-0.421000;AS_SB_TABLE=97,147|21,66;AS_SOR=1.62267;AS_VarDP=294;inbreeding_coeff=-0.000102534;AS_culprit=AS_FS;AS_VQSLOD=-2.20640;allele_type=snv;n_alt_alleles=3;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|1|1|0|0|0|1|1;gq_hist_all_bin_freq=0|0|0|0|40356|9834|3886|1195|335|136|31|6|1|3|1|0|0|0|1|1;dp_hist_alt_bin_freq=0|0|1|2|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10950|24636|12351|5991|1728|100|19|8|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|3|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.00548000;cadd_phred=1.37000;pangolin_largest_ds=0.00000;phylop=-0.561000;VRS_Allele_IDs=ga4gh:VA.OzXerX6R0Dd2KeXguv2oo0eHDViJWUXl,ga4gh:VA.3uxdNAuvV_9ZhBaJiHuhczQvjsPCuzcf;VRS_Starts=5030688,5030688;VRS_Ends=5030689,5030689;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1364C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1364C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1364C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1364C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1364C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1364C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1364C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1364C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1364C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030690	rs1345520743	G	A	.	AS_VQSR	AC=4;AN=111632;AF=3.58320e-05;grpmax=sas;fafmax_faf95_max=0.000100350;fafmax_faf95_max_gen_anc=sas;AC_XX=1;AF_XX=1.72861e-05;AN_XX=57850;nhomalt_XX=0;AC_XY=3;AF_XY=5.57807e-05;AN_XY=53782;nhomalt_XY=1;nhomalt=1;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=15640;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=13092;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=28732;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=368;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=362;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=730;nhomalt_ami=0;AC_amr_XX=1;AF_amr_XX=0.000192976;AN_amr_XX=5182;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6382;nhomalt_amr_XY=0;AC_amr=1;AF_amr=8.64753e-05;AN_amr=11564;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1394;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1170;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2564;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1468;nhomalt_eas_XX=0;AC_eas_XY=1;AF_eas_XY=0.000542299;AN_eas_XY=1844;nhomalt_eas_XY=0;AC_eas=1;AF_eas=0.000301932;AN_eas=3312;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2050;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5960;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8010;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=110;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=110;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=220;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=30028;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=21496;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=51524;nhomalt_nfe=0;AC_raw=6;AF_raw=4.39812e-05;AN_raw=136422;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=698;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=738;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1436;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=912;nhomalt_sas_XX=0;AC_sas_XY=2;AF_sas_XY=0.000761035;AN_sas_XY=2628;nhomalt_sas_XY=1;AC_sas=2;AF_sas=0.000564972;AN_sas=3540;nhomalt_sas=1;AC_grpmax=2;AF_grpmax=0.000564972;AN_grpmax=3540;nhomalt_grpmax=1;faf95=1.13700e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.000100350;faf99=6.64000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=4.13600e-05;fafmax_faf99_max=4.13600e-05;fafmax_faf99_max_gen_anc=sas;age_hist_het_bin_freq=0|0|0|0|0|0|1|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=1;age_hist_hom_n_larger=0;FS=15.4383;MQ=40.7471;MQRankSum=1.02600;QUALapprox=2736;QD=14.1031;ReadPosRankSum=0.00000;SOR=0.242000;VarDP=194;AS_FS=14.3236;AS_MQ=41.0697;AS_MQRankSum=1.13700;AS_pab_max=1.00000;AS_QUALapprox=2540;AS_QD=14.0331;AS_ReadPosRankSum=0.00000;AS_SB_TABLE=29,62|46,51;AS_SOR=0.244960;AS_VarDP=181;inbreeding_coeff=0.333304;AS_culprit=AS_MQ;AS_VQSLOD=-3.46140;negative_train_site;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|1|1;gq_hist_all_bin_freq=0|0|0|0|40304|9865|3907|1217|342|137|31|6|3|2|0|0|0|0|1|1;dp_hist_alt_bin_freq=0|0|2|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10946|24665|12357|5990|1729|99|19|8|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|1|0|0|1|0|0|0|0|0|0;cadd_raw_score=-0.245733;cadd_phred=0.407000;phylop=-4.46900;VRS_Allele_IDs=ga4gh:VA.5Slaf1HFkCleUfVaE2liXsO_cuEtDC9W,ga4gh:VA.6r04jbbb11xSyA_ql4Q5bK1nukVbkMS_;VRS_Starts=5030689,5030689;VRS_Ends=5030690,5030690;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1363G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1363G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1363G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1363G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1363G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1363G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1363G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1363G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1363G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030690	.	G	T	.	AC0;AS_VQSR	AC=0;AN=111742;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=57854;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=53888;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=15654;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=13174;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=28828;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=368;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=362;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=730;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5190;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6394;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11584;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1394;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1170;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2564;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1462;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1848;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3310;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2050;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5960;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8010;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=96;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=108;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=204;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=30022;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=21494;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=51516;nhomalt_nfe=0;AC_raw=2;AF_raw=1.46482e-05;AN_raw=136536;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=716;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=748;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1464;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=902;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2630;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3532;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=15.4383;MQ=40.7471;MQRankSum=1.02600;QUALapprox=2736;QD=14.1031;ReadPosRankSum=0.00000;SOR=0.242000;VarDP=194;AS_FS=4.05952;AS_MQ=31.2707;AS_MQRankSum=0.358000;AS_pab_max=1.00000;AS_QUALapprox=196;AS_QD=15.0769;AS_ReadPosRankSum=1.38000;AS_SB_TABLE=29,62|3,3;AS_SOR=0.204374;AS_VarDP=13;inbreeding_coeff=-1.46484e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.81760;negative_train_site;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|40304|9865|3907|1217|342|137|31|6|3|2|0|0|0|0|1|1;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10946|24665|12357|5990|1729|99|19|8|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.294587;cadd_phred=0.320000;phylop=-4.46900;VRS_Allele_IDs=ga4gh:VA.5Slaf1HFkCleUfVaE2liXsO_cuEtDC9W,ga4gh:VA.YRQCwPyXzDLgL9VcN1g_2EX8NkZMGErG;VRS_Starts=5030689,5030689;VRS_Ends=5030690,5030690;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1363G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1363G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1363G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1363G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1363G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1363G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1363G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1363G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1363G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030695	rs1269226185	C	T	.	AS_VQSR	AC=1;AN=110684;AF=9.03473e-06;grpmax=nfe;AC_XX=1;AF_XX=1.74605e-05;AN_XX=57272;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=53412;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=15478;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=13008;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=28486;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=366;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=360;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=726;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5168;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6356;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11524;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1386;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1164;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2550;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1412;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1778;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3190;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2042;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5956;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7998;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=108;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=108;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=216;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=3.36587e-05;AN_nfe_XX=29710;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=21338;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=1.95894e-05;AN_nfe=51048;nhomalt_nfe=0;AC_raw=9;AF_raw=6.64011e-05;AN_raw=135540;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=702;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=736;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1438;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=900;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2608;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3508;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=1.95894e-05;AN_grpmax=51048;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=7.34280;MQ=38.6174;MQRankSum=0.727000;QUALapprox=672;QD=4.76596;ReadPosRankSum=-0.727000;SOR=0.248000;VarDP=141;AS_FS=6.35014;AS_MQ=38.4444;AS_MQRankSum=0.736000;AS_pab_max=1.00000;AS_QUALapprox=579;AS_QD=5.31193;AS_ReadPosRankSum=-0.727000;AS_SB_TABLE=32,79|10,14;AS_SOR=0.274905;AS_VarDP=109;inbreeding_coeff=0.222171;AS_culprit=AS_MQ;AS_VQSLOD=-3.26860;negative_train_site;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|39859|9865|3912|1196|340|127|31|6|4|2|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10706|24446|12340|5992|1727|101|19|8|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0;cadd_raw_score=0.260119;cadd_phred=3.82300;phylop=-0.524000;VRS_Allele_IDs=ga4gh:VA.-s5nUwA2EjaLH7qcAChEB1eQM0EjVoBb,ga4gh:VA.J_pqFWTztY6ly0_A2HyYRn6afELjmM53;VRS_Starts=5030694,5030694;VRS_Ends=5030695,5030695;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1358C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1358C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1358C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1358C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1358C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1358C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1358C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1358C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1358C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030697	.	G	A	.	AC0;AS_VQSR	AC=0;AN=110814;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=57370;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=53444;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=15508;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=13000;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=28508;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=368;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=352;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=720;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5184;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6388;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11572;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1384;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1158;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2542;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1418;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1752;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3170;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2036;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5998;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8034;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=108;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=108;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=216;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=29748;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=21332;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=51080;nhomalt_nfe=0;AC_raw=2;AF_raw=1.47767e-05;AN_raw=135348;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=708;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=736;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1444;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=908;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2620;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3528;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=47.3990;MQRankSum=-0.996000;QUALapprox=60;QD=1.53846;ReadPosRankSum=-2.07900;SOR=0.544000;VarDP=39;AS_FS=0.00000;AS_MQ=47.3990;AS_MQRankSum=-0.996000;AS_pab_max=0.000728607;AS_QUALapprox=60;AS_QD=1.53846;AS_ReadPosRankSum=-2.07900;AS_SB_TABLE=16,19|2,2;AS_SOR=0.543777;AS_VarDP=39;inbreeding_coeff=-1.47769e-05;AS_culprit=AS_QD;AS_VQSLOD=-3.95250;negative_train_site;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|39789|9908|3948|1217|354|139|38|7|5|2|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10744|24456|12355|5993|1728|101|19|8|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.252464;cadd_phred=3.73300;phylop=0.782000;VRS_Allele_IDs=ga4gh:VA.tKNusTCEr6yqwTRyz8mehcFPR2UwSpbd,ga4gh:VA.8OsJcLZ-_2BI14FLQ3C3C6xhDXbI2Lys;VRS_Starts=5030696,5030696;VRS_Ends=5030697,5030697;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1356G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1356G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1356G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1356G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1356G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1356G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1356G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1356G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1356G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030706	rs1224707714	C	G	.	AC0	AC=0;AN=108662;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=56238;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=52424;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=15166;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=12740;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=27906;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=368;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=356;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=724;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5096;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6272;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11368;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1364;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1144;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2508;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1344;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1670;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3014;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1998;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5864;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7862;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=108;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=104;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=212;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=29214;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=20988;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=50202;nhomalt_nfe=0;AC_raw=2;AF_raw=1.50748e-05;AN_raw=132672;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=682;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=714;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1396;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=898;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2572;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3470;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=7.24846;MQ=41.9577;MQRankSum=-0.751000;QUALapprox=4981;QD=16.6589;ReadPosRankSum=0.350000;SOR=0.419000;VarDP=299;AS_FS=9.64327e-16;AS_MQ=47.7064;AS_pab_max=1.00000;AS_QUALapprox=282;AS_QD=28.2000;AS_SB_TABLE=44,78|4,6;AS_SOR=0.492227;AS_VarDP=10;inbreeding_coeff=1.00000;AS_culprit=AS_QD;AS_VQSLOD=0.563500;negative_train_site;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|38990|9770|3853|1197|348|124|34|7|2|2|1|0|0|0|0|3;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10206|23972|12311|5989|1725|98|19|8|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.169496;cadd_phred=2.78300;phylop=-2.76000;VRS_Allele_IDs=ga4gh:VA.96k5xe9Q5xZwfu8g10ktOl6hkj4cCvft,ga4gh:VA.1wnZ02948lYNIyXCr6bCmYPLrlesaxQ7;VRS_Starts=5030705,5030705;VRS_Ends=5030706,5030706;VRS_States=C,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1347C>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1347C>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1347C>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1347C>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1347C>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1347C>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1347C>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1347C>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1347C>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030706	rs1224707714	C	T	.	PASS	AC=12;AN=108660;AF=0.000110436;grpmax=amr;fafmax_faf95_max=0.000608420;fafmax_faf95_max_gen_anc=amr;AC_XX=7;AF_XX=0.000124475;AN_XX=56236;nhomalt_XX=3;AC_XY=5;AF_XY=9.53762e-05;AN_XY=52424;nhomalt_XY=1;nhomalt=4;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=15166;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=12740;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=27906;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=368;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=356;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=724;nhomalt_ami=0;AC_amr_XX=7;AF_amr_XX=0.00137363;AN_amr_XX=5096;nhomalt_amr_XX=3;AC_amr_XY=5;AF_amr_XY=0.000797194;AN_amr_XY=6272;nhomalt_amr_XY=1;AC_amr=12;AF_amr=0.00105559;AN_amr=11368;nhomalt_amr=4;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1364;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1144;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2508;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1344;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1670;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3014;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1998;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5864;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7862;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=108;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=104;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=212;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=29212;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=20988;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=50200;nhomalt_nfe=0;AC_raw=17;AF_raw=0.000128136;AN_raw=132672;nhomalt_raw=5;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=682;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=714;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1396;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=898;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2572;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3470;nhomalt_sas=0;AC_grpmax=12;AF_grpmax=0.00105559;AN_grpmax=11368;nhomalt_grpmax=4;faf95=6.27500e-05;faf95_afr=0.00000;faf95_amr=0.000608420;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=4.93600e-05;faf99_afr=0.00000;faf99_amr=0.000476500;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=0.000476500;fafmax_faf99_max_gen_anc=amr;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=7.24846;MQ=41.9577;MQRankSum=-0.751000;QUALapprox=4981;QD=16.6589;ReadPosRankSum=0.350000;SOR=0.419000;VarDP=299;AS_FS=7.37577;AS_MQ=41.7461;AS_MQRankSum=-0.751000;AS_pab_max=1.00000;AS_QUALapprox=4699;AS_QD=16.2595;AS_ReadPosRankSum=0.350000;AS_SB_TABLE=44,78|74,93;AS_SOR=0.411903;AS_VarDP=289;inbreeding_coeff=0.588183;AS_culprit=AS_MQ;AS_VQSLOD=-2.16880;negative_train_site;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|1|2|2|0|0|0|0|0|0|0|0|0|0|0|3;gq_hist_all_bin_freq=0|0|0|0|38990|9770|3853|1197|348|124|34|7|2|2|0|0|0|0|0|3;dp_hist_alt_bin_freq=0|0|5|0|2|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10206|23972|12311|5988|1725|98|19|8|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|1|1|0|1|0|0|0|0|0|0|0|1|0|0;cadd_raw_score=0.211768;cadd_phred=3.25900;pangolin_largest_ds=0.00000;phylop=-2.76000;VRS_Allele_IDs=ga4gh:VA.96k5xe9Q5xZwfu8g10ktOl6hkj4cCvft,ga4gh:VA.wLtdm0UZdqctwZK7PCqkN-eoAaNKdYcl;VRS_Starts=5030705,5030705;VRS_Ends=5030706,5030706;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1347C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1347C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1347C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1347C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1347C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1347C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1347C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1347C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1347C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030707	rs1342005006	G	A	.	PASS	AC=17;AN=109368;AF=0.000155439;grpmax=eas;fafmax_faf95_max=0.00278184;fafmax_faf95_max_gen_anc=eas;AC_XX=6;AF_XX=0.000106206;AN_XX=56494;nhomalt_XX=3;AC_XY=11;AF_XY=0.000208042;AN_XY=52874;nhomalt_XY=3;nhomalt=6;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=15252;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=12916;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=28168;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=366;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=356;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=722;nhomalt_ami=0;AC_amr_XX=2;AF_amr_XX=0.000390016;AN_amr_XX=5128;nhomalt_amr_XX=1;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6330;nhomalt_amr_XY=0;AC_amr=2;AF_amr=0.000174551;AN_amr=11458;nhomalt_amr=1;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1366;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1146;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2512;nhomalt_asj=0;AC_eas_XX=4;AF_eas_XX=0.00297619;AN_eas_XX=1344;nhomalt_eas_XX=2;AC_eas_XY=10;AF_eas_XY=0.00588928;AN_eas_XY=1698;nhomalt_eas_XY=3;AC_eas=14;AF_eas=0.00460224;AN_eas=3042;nhomalt_eas=5;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2008;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5902;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7910;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=96;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=104;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=200;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=29328;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=21094;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=50422;nhomalt_nfe=0;AC_raw=19;AF_raw=0.000142683;AN_raw=133162;nhomalt_raw=7;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=712;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=734;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1446;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=894;nhomalt_sas_XX=0;AC_sas_XY=1;AF_sas_XY=0.000385505;AN_sas_XY=2594;nhomalt_sas_XY=0;AC_sas=1;AF_sas=0.000286697;AN_sas=3488;nhomalt_sas=0;AC_grpmax=14;AF_grpmax=0.00460224;AN_grpmax=3042;nhomalt_grpmax=5;faf95=9.84500e-05;faf95_afr=0.00000;faf95_amr=3.07800e-05;faf95_eas=0.00278184;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=8.11400e-05;faf99_afr=0.00000;faf99_amr=1.27400e-05;faf99_eas=0.00222897;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=0.00222897;fafmax_faf99_max_gen_anc=eas;age_hist_het_bin_freq=0|1|0|0|0|0|2|0|0|1;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|1|1|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.603520;MQ=43.1511;MQRankSum=1.01400;QUALapprox=11075;QD=22.2837;ReadPosRankSum=-0.758000;SOR=0.643000;VarDP=497;AS_FS=0.00000;AS_MQ=42.8291;AS_MQRankSum=1.01400;AS_pab_max=0.838820;AS_QUALapprox=11024;AS_QD=23.7075;AS_ReadPosRankSum=-0.758000;AS_SB_TABLE=57,70|168,196;AS_SOR=0.645412;AS_VarDP=465;inbreeding_coeff=0.736805;AS_culprit=AS_MQ;AS_VQSLOD=-1.37050;negative_train_site;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|2|1|1|1|1|0|0|0|0|0|5;gq_hist_all_bin_freq=0|0|0|0|39124|9840|3900|1230|354|128|34|8|3|4|0|0|0|0|0|5;dp_hist_alt_bin_freq=0|0|0|4|4|1|0|2|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10434|24023|12327|5989|1726|101|19|8|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|1|2|1|0|0|0|1|0|0|0;cadd_raw_score=-0.132695;cadd_phred=0.709000;pangolin_largest_ds=0.00000;phylop=-0.738000;VRS_Allele_IDs=ga4gh:VA.5hWorq94GyItOioqTQq3TzV-gmmivrgh,ga4gh:VA.hug0F0q0gn-cZweC4gZ18BBFFUt4kTMa;VRS_Starts=5030706,5030706;VRS_Ends=5030707,5030707;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1346G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1346G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1346G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1346G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1346G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1346G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1346G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1346G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1346G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030711	rs1298222036	C	T	.	PASS	AC=4;AN=108340;AF=3.69208e-05;grpmax=amr;fafmax_faf95_max=6.63000e-06;fafmax_faf95_max_gen_anc=nfe;AC_XX=3;AF_XX=5.35925e-05;AN_XX=55978;nhomalt_XX=0;AC_XY=1;AF_XY=1.90978e-05;AN_XY=52362;nhomalt_XY=0;nhomalt=0;AC_afr_XX=1;AF_afr_XX=6.63306e-05;AN_afr_XX=15076;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=12704;nhomalt_afr_XY=0;AC_afr=1;AF_afr=3.59971e-05;AN_afr=27780;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=362;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=356;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=718;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5086;nhomalt_amr_XX=0;AC_amr_XY=1;AF_amr_XY=0.000159439;AN_amr_XY=6272;nhomalt_amr_XY=0;AC_amr=1;AF_amr=8.80437e-05;AN_amr=11358;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1366;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1136;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2502;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1326;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1674;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3000;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1990;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5868;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7858;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=106;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=102;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=208;nhomalt_mid=0;AC_nfe_XX=2;AF_nfe_XX=6.87569e-05;AN_nfe_XX=29088;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=20958;nhomalt_nfe_XY=0;AC_nfe=2;AF_nfe=3.99632e-05;AN_nfe=50046;nhomalt_nfe=0;AC_raw=6;AF_raw=4.55463e-05;AN_raw=131734;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=684;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=722;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1406;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=894;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2570;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3464;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=8.80437e-05;AN_grpmax=11358;nhomalt_grpmax=0;faf95=1.16200e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=6.63000e-06;faf95_sas=0.00000;faf99=6.81000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=2.48000e-06;faf99_sas=0.00000;fafmax_faf99_max=2.48000e-06;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|1|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=7.09139;MQ=41.9029;MQRankSum=0.727000;QUALapprox=5349;QD=17.0350;ReadPosRankSum=0.239000;SOR=1.06800;VarDP=314;AS_FS=7.09139;AS_MQ=41.9029;AS_MQRankSum=0.727000;AS_pab_max=0.687500;AS_QUALapprox=5349;AS_QD=17.0350;AS_ReadPosRankSum=0.239000;AS_SB_TABLE=56,65|74,119;AS_SOR=1.06795;AS_VarDP=314;inbreeding_coeff=0.333303;AS_culprit=AS_MQ;AS_VQSLOD=-1.72460;negative_train_site;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|3;gq_hist_all_bin_freq=0|0|0|0|38818|9788|3856|1195|349|121|30|5|2|2|0|0|1|0|0|3;dp_hist_alt_bin_freq=0|0|0|1|1|1|1|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10220|23815|12301|5981|1726|98|19|7|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|2|0|1|1|0|0|0|0;cadd_raw_score=-0.0178680;cadd_phred=1.22700;pangolin_largest_ds=0.00000;phylop=-0.251000;VRS_Allele_IDs=ga4gh:VA.9CxVkZHKP546Spn8b5qnGxe82VbXF1Gh,ga4gh:VA.o2tVXalmxfGE6ctlWqetXFrV93ODBUKq;VRS_Starts=5030710,5030710;VRS_Ends=5030711,5030711;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1342C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1342C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1342C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1342C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1342C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1342C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1342C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1342C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1342C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030712	rs1413670535	C	T	.	AS_VQSR	AC=5;AN=108398;AF=4.61263e-05;grpmax=sas;fafmax_faf95_max=0.000102580;fafmax_faf95_max_gen_anc=sas;AC_XX=3;AF_XX=5.34988e-05;AN_XX=56076;nhomalt_XX=1;AC_XY=2;AF_XY=3.82248e-05;AN_XY=52322;nhomalt_XY=1;nhomalt=2;AC_afr_XX=1;AF_afr_XX=6.62076e-05;AN_afr_XX=15104;nhomalt_afr_XX=0;AC_afr_XY=2;AF_afr_XY=0.000157604;AN_afr_XY=12690;nhomalt_afr_XY=1;AC_afr=3;AF_afr=0.000107937;AN_afr=27794;nhomalt_afr=1;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=364;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=356;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=720;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5094;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6286;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11380;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1362;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1146;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2508;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1320;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1668;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2988;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1990;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5844;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7834;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=108;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=104;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=212;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=29152;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=20948;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=50100;nhomalt_nfe=0;AC_raw=7;AF_raw=5.32125e-05;AN_raw=131548;nhomalt_raw=3;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=688;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=718;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1406;nhomalt_remaining=0;AC_sas_XX=2;AF_sas_XX=0.00223714;AN_sas_XX=894;nhomalt_sas_XX=1;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2562;nhomalt_sas_XY=0;AC_sas=2;AF_sas=0.000578704;AN_sas=3456;nhomalt_sas=1;AC_grpmax=2;AF_grpmax=0.000578704;AN_grpmax=3456;nhomalt_grpmax=1;faf95=1.74800e-05;faf95_afr=2.85800e-05;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.000102580;faf99=1.17900e-05;faf99_afr=1.49200e-05;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=4.21800e-05;fafmax_faf99_max=4.21800e-05;fafmax_faf99_max_gen_anc=sas;age_hist_het_bin_freq=0|0|0|0|0|0|0|1|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|1;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=15.3414;MQ=39.6139;MQRankSum=0.804000;QUALapprox=2308;QD=20.6071;ReadPosRankSum=0.684000;SOR=0.130000;VarDP=112;AS_FS=15.7000;AS_MQ=40.4254;AS_MQRankSum=0.849000;AS_pab_max=1.00000;AS_QUALapprox=2208;AS_QD=23.0000;AS_ReadPosRankSum=0.736000;AS_SB_TABLE=7,22|38,39;AS_SOR=0.119796;AS_VarDP=96;inbreeding_coeff=0.857135;AS_culprit=AS_MQ;AS_VQSLOD=-4.69770;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|2|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|38748|9809|3896|1200|368|129|37|6|3|2|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|0|3|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10265|23807|12292|5984|1723|99|19|7|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.000615000;cadd_phred=1.33900;phylop=-5.05800;VRS_Allele_IDs=ga4gh:VA.jThVP1CbBO533-v7fMsCG9_1NNXwTOUy,ga4gh:VA.xqjRMxqeGqmviFy0BAqlNoydmAO6xfCP;VRS_Starts=5030711,5030711;VRS_Ends=5030712,5030712;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1341C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1341C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1341C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1341C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1341C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1341C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1341C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1341C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1341C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030713	rs1375344741	G	A	.	AC0;AS_VQSR	AC=0;AN=108528;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=56132;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=52396;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=15124;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=12718;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=27842;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=364;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=350;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=714;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5104;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6282;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11386;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1364;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1146;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2510;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1322;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1664;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2986;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1992;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5872;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7864;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=108;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=104;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=212;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=29164;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=20972;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=50136;nhomalt_nfe=0;AC_raw=3;AF_raw=2.27936e-05;AN_raw=131616;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=690;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=716;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1406;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=900;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2572;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3472;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.903289;MQ=36.1130;MQRankSum=-0.988000;QUALapprox=927;QD=12.5270;ReadPosRankSum=-0.205000;SOR=0.567000;VarDP=74;AS_FS=4.82164e-16;AS_MQ=35.4078;AS_MQRankSum=-0.988000;AS_pab_max=1.00000;AS_QUALapprox=894;AS_QD=12.7714;AS_ReadPosRankSum=0.358000;AS_SB_TABLE=14,26|12,21;AS_SOR=0.633355;AS_VarDP=70;inbreeding_coeff=0.666659;AS_culprit=AS_MQ;AS_VQSLOD=-2.50450;negative_train_site;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|38786|9840|3899|1207|361|128|32|6|3|2|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10335|23800|12292|5985|1724|99|19|7|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.152584;cadd_phred=0.645000;phylop=-2.80900;VRS_Allele_IDs=ga4gh:VA.oZfLq6bQMpnpWJIG0avzCB5TDiwNAFir,ga4gh:VA.M5e4kkRjvqRDgeV7Qt4sjxsK1ukMaA2n;VRS_Starts=5030712,5030712;VRS_Ends=5030713,5030713;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1340G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1340G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1340G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1340G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1340G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1340G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1340G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1340G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1340G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030716	rs1311648686	C	A	.	PASS	AC=145;AN=108168;AF=0.00134051;grpmax=afr;fafmax_faf95_max=0.00419508;fafmax_faf95_max_gen_anc=afr;AC_XX=73;AF_XX=0.00130600;AN_XX=55896;nhomalt_XX=17;AC_XY=72;AF_XY=0.00137741;AN_XY=52272;nhomalt_XY=17;nhomalt=34;AC_afr_XX=70;AF_afr_XX=0.00465859;AN_afr_XX=15026;nhomalt_afr_XX=17;AC_afr_XY=65;AF_afr_XY=0.00510525;AN_afr_XY=12732;nhomalt_afr_XY=16;AC_afr=135;AF_afr=0.00486346;AN_afr=27758;nhomalt_afr=33;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=364;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=354;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=718;nhomalt_ami=0;AC_amr_XX=3;AF_amr_XX=0.000588928;AN_amr_XX=5094;nhomalt_amr_XX=0;AC_amr_XY=7;AF_amr_XY=0.00111607;AN_amr_XY=6272;nhomalt_amr_XY=1;AC_amr=10;AF_amr=0.000879817;AN_amr=11366;nhomalt_amr=1;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1360;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1140;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2500;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1308;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1640;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2948;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1988;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5846;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7834;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=96;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=102;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=198;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=29072;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=20906;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=49978;nhomalt_nfe=0;AC_raw=187;AF_raw=0.00143879;AN_raw=129970;nhomalt_raw=49;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=708;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=730;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1438;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=880;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2550;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3430;nhomalt_sas=0;AC_grpmax=135;AF_grpmax=0.00486346;AN_grpmax=27758;nhomalt_grpmax=33;faf95=0.00116198;faf95_afr=0.00419508;faf95_amr=0.000476600;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00109463;faf99_afr=0.00394261;faf99_amr=0.000362980;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=0.00394261;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=3|1|0|1|4|1|7|3|2|0;age_hist_het_n_smaller=8;age_hist_het_n_larger=0;age_hist_hom_bin_freq=1|1|1|3|2|3|1|0|0|0;age_hist_hom_n_smaller=4;age_hist_hom_n_larger=0;FS=0.548360;MQ=41.9208;MQRankSum=-0.0700000;QUALapprox=136644;QD=17.4513;ReadPosRankSum=0.443000;SOR=0.733000;VarDP=7830;AS_FS=0.548360;AS_MQ=41.9093;AS_MQRankSum=-0.0860000;AS_pab_max=1.00000;AS_QUALapprox=136622;AS_QD=17.4686;AS_ReadPosRankSum=0.443000;AS_SB_TABLE=1175,1701|1976,2976;AS_SOR=0.733583;AS_VarDP=7821;inbreeding_coeff=0.523378;AS_culprit=AS_MQ;AS_VQSLOD=-1.26470;negative_train_site;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|1|3|4|9|2|5|8|2|1|2|0|1|1|2|2|66;gq_hist_all_bin_freq=0|0|0|0|38499|9794|3893|1219|363|133|40|8|3|4|0|1|1|2|2|66;dp_hist_alt_bin_freq=0|0|28|23|17|16|11|11|2|1|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10247|23652|12275|5982|1730|110|21|8|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|8|3|8|7|8|11|13|7|3|2|3|4|1|0|0;cadd_raw_score=-0.0708900;cadd_phred=0.953000;pangolin_largest_ds=0.00000;phylop=-0.0230000;VRS_Allele_IDs=ga4gh:VA.9yr-p7yi1oSJRc90IT2WnI4tu-8p9CQ4,ga4gh:VA.mw31ChhztNPaHvkIgNdk-OEa7BJ9QMam;VRS_Starts=5030715,5030715;VRS_Ends=5030716,5030716;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1337C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1337C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1337C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1337C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1337C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1337C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1337C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1337C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1337C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030721	rs1987116731	A	G	.	AC0	AC=0;AN=107958;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=55780;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=52178;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=14980;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=12628;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=27608;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=364;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=356;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=720;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5078;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6260;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11338;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1348;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1144;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2492;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1308;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1618;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2926;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1980;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5866;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7846;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=108;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=104;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=212;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=29044;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=20916;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=49960;nhomalt_nfe=0;AC_raw=1;AF_raw=7.76156e-06;AN_raw=128840;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=676;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=722;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1398;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=894;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2564;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3458;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=2.17572;MQ=41.3064;MQRankSum=0.727000;QUALapprox=801;QD=12.3231;ReadPosRankSum=-0.0290000;SOR=0.898000;VarDP=65;AS_FS=1.00832;AS_MQ=42.9345;AS_MQRankSum=-0.296000;AS_pab_max=0.687500;AS_QUALapprox=743;AS_QD=13.0351;AS_ReadPosRankSum=-0.0990000;AS_SB_TABLE=22,20|10,11;AS_SOR=0.704943;AS_VarDP=57;inbreeding_coeff=-7.76162e-06;AS_culprit=AS_MQ;AS_VQSLOD=-1.56550;negative_train_site;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|38470|9812|3935|1240|357|121|35|5|2|2|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10346|23538|12265|5980|1722|99|19|7|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.118851;cadd_phred=2.26500;phylop=-0.572000;VRS_Allele_IDs=ga4gh:VA.L2aAMy5Ftcl8miPqKY8RDPhPzaEy40hk,ga4gh:VA.hAyPENA-0eYhROM7X_7KcSfAzfE7oPYs;VRS_Starts=5030720,5030720;VRS_Ends=5030721,5030721;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1332A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1332A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1332A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1332A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1332A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1332A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1332A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1332A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1332A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030723	rs1987116814	A	G	.	PASS	AC=1;AN=107296;AF=9.32001e-06;grpmax=amr;AC_XX=0;AF_XX=0.00000;AN_XX=55486;nhomalt_XX=0;AC_XY=1;AF_XY=1.93013e-05;AN_XY=51810;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=14860;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=12494;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=27354;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=362;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=356;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=718;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5048;nhomalt_amr_XX=0;AC_amr_XY=1;AF_amr_XY=0.000160514;AN_amr_XY=6230;nhomalt_amr_XY=0;AC_amr=1;AF_amr=8.86682e-05;AN_amr=11278;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1338;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1138;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2476;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1300;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1604;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2904;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1976;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5820;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7796;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=108;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=104;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=212;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=28936;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=20818;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=49754;nhomalt_nfe=0;AC_raw=2;AF_raw=1.56701e-05;AN_raw=127632;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=670;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=716;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1386;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=888;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2530;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3418;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=8.86682e-05;AN_grpmax=11278;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=3.29918;MQ=43.7735;MQRankSum=0.788000;QUALapprox=1116;QD=16.6567;ReadPosRankSum=0.0670000;SOR=1.12600;VarDP=67;AS_FS=3.29918;AS_MQ=43.7735;AS_MQRankSum=0.788000;AS_pab_max=0.179688;AS_QUALapprox=1116;AS_QD=16.6567;AS_ReadPosRankSum=0.0670000;AS_SB_TABLE=15,16|14,22;AS_SOR=1.12579;AS_VarDP=67;inbreeding_coeff=-1.56703e-05;AS_culprit=AS_MQ;AS_VQSLOD=-1.34860;negative_train_site;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|38280|9745|3880|1214|362|121|36|5|2|2|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10145|23420|12258|5976|1721|99|19|7|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0;cadd_raw_score=0.314564;cadd_phred=4.45800;pangolin_largest_ds=0.00000;phylop=-0.160000;VRS_Allele_IDs=ga4gh:VA.9C2auB-jnokF3Jw-ZcNWAfWPt1ymX7wi,ga4gh:VA.wXDCYqRhl34_7azQZBcyVgifRM_7CrSo;VRS_Starts=5030722,5030722;VRS_Ends=5030723,5030723;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1330A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1330A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1330A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1330A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1330A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1330A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1330A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1330A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1330A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030734	rs1987116898	G	A	.	AC0;AS_VQSR	AC=0;AN=106560;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=55138;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=51422;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=14638;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=12242;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=26880;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=372;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=360;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=732;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5022;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6174;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11196;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1342;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1138;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2480;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1260;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1570;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2830;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1974;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5828;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7802;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=108;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=104;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=212;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=28872;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=20810;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=49682;nhomalt_nfe=0;AC_raw=4;AF_raw=3.24044e-05;AN_raw=123440;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=672;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=700;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1372;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=878;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2496;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3374;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.53666;MQ=42.4629;MQRankSum=0.804000;QUALapprox=264;QD=8.80000;ReadPosRankSum=-0.358000;SOR=1.07100;VarDP=30;AS_FS=1.74444;AS_MQ=32.9188;AS_MQRankSum=0.804000;AS_pab_max=1.00000;AS_QUALapprox=234;AS_QD=13.7647;AS_ReadPosRankSum=-0.358000;AS_SB_TABLE=8,12|2,6;AS_SOR=1.28356;AS_VarDP=17;inbreeding_coeff=0.499984;AS_culprit=AS_MQ;AS_VQSLOD=-3.46090;negative_train_site;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|37978|9612|3855|1261|375|140|45|7|3|2|0|2|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10341|22976|12142|5972|1720|100|19|7|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.154068;cadd_phred=2.61800;phylop=-0.0260000;VRS_Allele_IDs=ga4gh:VA.-juZNpw2fPqqXUdX6Vf7OyoQEfZ93QPE,ga4gh:VA.hqRkDlHYBqAGuhbVjjMaTT0TLmoilw_j;VRS_Starts=5030733,5030733;VRS_Ends=5030734,5030734;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1319G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1319G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1319G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1319G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1319G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1319G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1319G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1319G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1319G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030736	rs1416509016	T	C	.	AS_VQSR	AC=195;AN=97110;AF=0.00200803;grpmax=eas;fafmax_faf95_max=0.00350013;fafmax_faf95_max_gen_anc=eas;AC_XX=81;AF_XX=0.00161393;AN_XX=50188;nhomalt_XX=1;AC_XY=114;AF_XY=0.00242956;AN_XY=46922;nhomalt_XY=0;nhomalt=1;AC_afr_XX=24;AF_afr_XX=0.00183011;AN_afr_XX=13114;nhomalt_afr_XX=0;AC_afr_XY=26;AF_afr_XY=0.00234530;AN_afr_XY=11086;nhomalt_afr_XY=0;AC_afr=50;AF_afr=0.00206612;AN_afr=24200;nhomalt_afr=0;AC_ami_XX=1;AF_ami_XX=0.00284091;AN_ami_XX=352;nhomalt_ami_XX=0;AC_ami_XY=2;AF_ami_XY=0.00602410;AN_ami_XY=332;nhomalt_ami_XY=0;AC_ami=3;AF_ami=0.00438596;AN_ami=684;nhomalt_ami=0;AC_amr_XX=7;AF_amr_XX=0.00151057;AN_amr_XX=4634;nhomalt_amr_XX=0;AC_amr_XY=13;AF_amr_XY=0.00226166;AN_amr_XY=5748;nhomalt_amr_XY=0;AC_amr=20;AF_amr=0.00192641;AN_amr=10382;nhomalt_amr=0;AC_asj_XX=1;AF_asj_XX=0.000805153;AN_asj_XX=1242;nhomalt_asj_XX=0;AC_asj_XY=1;AF_asj_XY=0.000941620;AN_asj_XY=1062;nhomalt_asj_XY=0;AC_asj=2;AF_asj=0.000868056;AN_asj=2304;nhomalt_asj=0;AC_eas_XX=7;AF_eas_XX=0.00648148;AN_eas_XX=1080;nhomalt_eas_XX=0;AC_eas_XY=7;AF_eas_XY=0.00523169;AN_eas_XY=1338;nhomalt_eas_XY=0;AC_eas=14;AF_eas=0.00578991;AN_eas=2418;nhomalt_eas=0;AC_fin_XX=5;AF_fin_XX=0.00275634;AN_fin_XX=1814;nhomalt_fin_XX=0;AC_fin_XY=16;AF_fin_XY=0.00304298;AN_fin_XY=5258;nhomalt_fin_XY=0;AC_fin=21;AF_fin=0.00296946;AN_fin=7072;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=96;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=98;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=194;nhomalt_mid=0;AC_nfe_XX=34;AF_nfe_XX=0.00128632;AN_nfe_XX=26432;nhomalt_nfe_XX=1;AC_nfe_XY=43;AF_nfe_XY=0.00225509;AN_nfe_XY=19068;nhomalt_nfe_XY=0;AC_nfe=77;AF_nfe=0.00169231;AN_nfe=45500;nhomalt_nfe=1;AC_raw=4034;AF_raw=0.0351596;AN_raw=114734;nhomalt_raw=1729;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=640;nhomalt_remaining_XX=0;AC_remaining_XY=1;AF_remaining_XY=0.00157729;AN_remaining_XY=634;nhomalt_remaining_XY=0;AC_remaining=1;AF_remaining=0.000784929;AN_remaining=1274;nhomalt_remaining=0;AC_sas_XX=2;AF_sas_XX=0.00255102;AN_sas_XX=784;nhomalt_sas_XX=0;AC_sas_XY=5;AF_sas_XY=0.00217581;AN_sas_XY=2298;nhomalt_sas_XY=0;AC_sas=7;AF_sas=0.00227125;AN_sas=3082;nhomalt_sas=0;AC_grpmax=14;AF_grpmax=0.00578991;AN_grpmax=2418;nhomalt_grpmax=0;faf95=0.00177720;faf95_afr=0.00160920;faf95_amr=0.00127615;faf95_eas=0.00350013;faf95_nfe=0.00138723;faf95_sas=0.00106520;faf99=0.00168828;faf99_afr=0.00144668;faf99_amr=0.00106646;faf99_eas=0.00280485;faf99_nfe=0.00127582;faf99_sas=0.000755830;fafmax_faf99_max=0.00280485;fafmax_faf99_max_gen_anc=eas;age_hist_het_bin_freq=2|2|7|18|12|12|11|5|5|4;age_hist_het_n_smaller=12;age_hist_het_n_larger=1;age_hist_hom_bin_freq=0|0|0|0|0|1|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=60.2996;MQ=37.1748;MQRankSum=-1.73300;QUALapprox=317256;QD=12.7514;ReadPosRankSum=-0.615000;SOR=3.52400;VarDP=24880;AS_FS=60.2996;AS_MQ=37.1748;AS_MQRankSum=-1.73300;AS_pab_max=1.00000;AS_QUALapprox=317256;AS_QD=12.7514;AS_ReadPosRankSum=-0.615000;AS_SB_TABLE=4839,7265|1328,11448;AS_SOR=3.52428;AS_VarDP=24880;inbreeding_coeff=0.852010;AS_culprit=AS_FS;AS_VQSLOD=-5.32560;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|5|22|15|14|14|35|32|14|4|4|6|11|4|2|12;gq_hist_all_bin_freq=0|0|0|0|35399|8541|3132|911|272|92|57|34|17|6|4|6|11|4|2|12;dp_hist_alt_bin_freq=0|0|107|64|20|3|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9270|20411|11296|5720|1679|96|19|7|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|119|46|23|2|2|0|1|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.236995;cadd_phred=3.55200;phylop=-2.95800;VRS_Allele_IDs=ga4gh:VA.JXvmetyUsPDFJoXN0djhY8Nh74waCDsi,ga4gh:VA.W7H1_aDao6lU1eUP-U29CQyaq2YZLGUx;VRS_Starts=5030735,5030735;VRS_Ends=5030736,5030736;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1317T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1317T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1317T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1317T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1317T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1317T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1317T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1317T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1317T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030739	.	C	T	.	AC0;AS_VQSR	AC=0;AN=105414;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=54578;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=50836;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=14268;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=11974;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=26242;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=370;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=356;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=726;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4974;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6146;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11120;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1336;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1128;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2464;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1246;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1520;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2766;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1970;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5676;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7646;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=108;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=102;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=210;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=28788;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=20758;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=49546;nhomalt_nfe=0;AC_raw=2;AF_raw=1.62617e-05;AN_raw=122988;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=660;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=698;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1358;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=858;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2478;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3336;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=4.82164e-16;MQ=44.3005;MQRankSum=1.18200;QUALapprox=94;QD=7.23077;ReadPosRankSum=-0.967000;SOR=0.223000;VarDP=13;AS_FS=4.82164e-16;AS_MQ=44.3005;AS_MQRankSum=1.18200;AS_pab_max=0.0385742;AS_QUALapprox=94;AS_QD=7.23077;AS_ReadPosRankSum=-0.967000;AS_SB_TABLE=8,2|2,1;AS_SOR=0.223144;AS_VarDP=13;inbreeding_coeff=1.00000;AS_culprit=AS_MQ;AS_VQSLOD=-2.61760;negative_train_site;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|37840|9511|3707|1127|362|119|34|3|1|3|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|11340|22026|11721|5792|1698|100|20|8|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0108980;cadd_phred=1.26900;phylop=-1.18100;VRS_Allele_IDs=ga4gh:VA.5hl-Wx11scBvUy0IYC-WapAXLTqHkZm8,ga4gh:VA.gZ1zlv4QmEQK7Ka4sGmPBXdIcwsjseAC;VRS_Starts=5030738,5030738;VRS_Ends=5030739,5030739;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1314C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1314C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1314C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1314C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1314C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1314C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1314C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1314C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1314C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030752	rs1426227980	T	C	.	PASS	AC=1;AN=103430;AF=9.66837e-06;grpmax=amr;AC_XX=1;AF_XX=1.86359e-05;AN_XX=53660;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=49770;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=13688;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=11394;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=25082;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=366;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=354;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=720;nhomalt_ami=0;AC_amr_XX=1;AF_amr_XX=0.000203335;AN_amr_XX=4918;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6074;nhomalt_amr_XY=0;AC_amr=1;AF_amr=9.09753e-05;AN_amr=10992;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1328;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1124;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2452;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1184;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1454;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2638;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1942;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5598;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7540;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=108;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=104;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=212;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=28634;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=20610;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=49244;nhomalt_nfe=0;AC_raw=1;AF_raw=8.30620e-06;AN_raw=120392;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=652;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=654;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1306;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=840;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2404;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3244;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=9.09753e-05;AN_grpmax=10992;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|1|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=38.8135;MQRankSum=0.480000;QUALapprox=197;QD=5.79412;ReadPosRankSum=0.969000;SOR=0.720000;VarDP=34;AS_FS=0.00000;AS_MQ=38.8135;AS_MQRankSum=0.480000;AS_pab_max=1.00000;AS_QUALapprox=197;AS_QD=5.79412;AS_ReadPosRankSum=0.969000;AS_SB_TABLE=14,10|6,4;AS_SOR=0.719811;AS_VarDP=34;inbreeding_coeff=-8.30627e-06;AS_culprit=AS_MQ;AS_VQSLOD=-1.89610;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|37376|9347|3486|1049|321|98|30|3|1|3|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10875|21582|11654|5776|1697|103|20|6|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.116847;cadd_phred=2.24600;pangolin_largest_ds=0.0100000;phylop=-0.731000;VRS_Allele_IDs=ga4gh:VA.hpput8jhC9S1VVPxviob5Xx5en-CHoDq,ga4gh:VA.6onzoiUJwXn8mmFCN_fsXKQXNCWOiWez;VRS_Starts=5030751,5030751;VRS_Ends=5030752,5030752;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1301T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1301T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1301T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1301T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1301T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1301T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1301T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1301T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1301T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030754	.	T	C	.	AC0	AC=0;AN=102770;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=53254;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=49516;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=13446;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=11316;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=24762;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=358;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=360;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=718;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4888;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6034;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=10922;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1316;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1110;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2426;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1164;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1432;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2596;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1938;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5564;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7502;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=108;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=104;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=212;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=28564;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=20548;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=49112;nhomalt_nfe=0;AC_raw=3;AF_raw=2.50648e-05;AN_raw=119690;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=646;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=658;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1304;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=826;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2390;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3216;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=43.3932;MQRankSum=0.296000;QUALapprox=86;QD=2.52941;ReadPosRankSum=0.0670000;SOR=0.693000;VarDP=34;AS_FS=0.00000;AS_MQ=43.3932;AS_MQRankSum=0.296000;AS_pab_max=0.179688;AS_QUALapprox=86;AS_QD=2.52941;AS_ReadPosRankSum=0.0670000;AS_SB_TABLE=14,14|3,3;AS_SOR=0.693147;AS_VarDP=34;inbreeding_coeff=-2.50654e-05;AS_culprit=AS_QD;AS_VQSLOD=-2.13290;negative_train_site;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|37193|9259|3444|1042|312|98|29|3|2|3|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10707|21470|11617|5770|1690|103|20|6|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.301338;cadd_phred=4.30400;phylop=0.609000;VRS_Allele_IDs=ga4gh:VA.PM1NIvvPc6vP0jg0VM4y6mP57WkEzbkC,ga4gh:VA.ovUynxE7qs_evga_cnh6SANF7H8MhVdN;VRS_Starts=5030753,5030753;VRS_Ends=5030754,5030754;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1299T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1299T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1299T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1299T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1299T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1299T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1299T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1299T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1299T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030764	rs1987117146	GTAAA	G	.	PASS	AC=1;AN=100998;AF=9.90119e-06;grpmax=sas;AC_XX=0;AF_XX=0.00000;AN_XX=52418;nhomalt_XX=0;AC_XY=1;AF_XY=2.05846e-05;AN_XY=48580;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=12892;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=10672;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=23564;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=364;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=354;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=718;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4818;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5940;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=10758;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1306;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1120;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2426;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1106;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1348;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2454;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1916;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5566;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7482;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=106;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=98;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=204;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=28452;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=20504;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=48956;nhomalt_nfe=0;AC_raw=1;AF_raw=8.50789e-06;AN_raw=117538;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=642;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=634;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1276;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=816;nhomalt_sas_XX=0;AC_sas_XY=1;AF_sas_XY=0.000426621;AN_sas_XY=2344;nhomalt_sas_XY=0;AC_sas=1;AF_sas=0.000316456;AN_sas=3160;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000316456;AN_grpmax=3160;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|1|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=41.4316;MQRankSum=0.118000;QUALapprox=306;QD=4.63636;ReadPosRankSum=-0.271000;SOR=0.620000;VarDP=66;AS_FS=0.00000;AS_MQ=41.2388;AS_MQRankSum=0.696000;AS_pab_max=0.581055;AS_QUALapprox=277;AS_QD=6.44186;AS_ReadPosRankSum=-0.522000;AS_SB_TABLE=20,33|3,6;AS_SOR=0.773947;AS_VarDP=43;inbreeding_coeff=-8.50796e-06;AS_culprit=AS_FS;AS_VQSLOD=15.0494;negative_train_site;allele_type=del;n_alt_alleles=2;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|36445|9209|3401|1003|304|99|29|4|1|3|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10444|20974|11517|5752|1684|102|19|5|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0846830;cadd_phred=0.892000;pangolin_largest_ds=0.00000;phylop=-0.209000;VRS_Allele_IDs=ga4gh:VA.etxcXIBuVYo_93guwOaCosuawygw7HNU,ga4gh:VA.TbkluTN3UhThKhf1gcjvE6FyInRj7_0x;VRS_Starts=5030763,5030764;VRS_Ends=5030768,5030780;VRS_States=GTAAA,TAAATAAATAAA;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1276_698-1273del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1276_347-1273del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1276_347-1273del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1276_*312-1273del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1276_698-1273del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1276_698-1273del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1276_698-1273del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1276_698-1273del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1276_698-1273del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030769	rs1167709320	T	C	.	PASS	AC=2;AN=97920;AF=2.04248e-05;grpmax=nfe;fafmax_faf95_max=6.87000e-06;fafmax_faf95_max_gen_anc=nfe;AC_XX=2;AF_XX=3.92912e-05;AN_XX=50902;nhomalt_XX=1;AC_XY=0;AF_XY=0.00000;AN_XY=47018;nhomalt_XY=0;nhomalt=1;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=12062;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=9980;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=22042;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=362;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=342;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=704;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4714;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5838;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=10552;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1276;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1094;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2370;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1052;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1228;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2280;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1868;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5394;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7262;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=106;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=100;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=206;nhomalt_mid=0;AC_nfe_XX=2;AF_nfe_XX=7.12606e-05;AN_nfe_XX=28066;nhomalt_nfe_XX=1;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=20186;nhomalt_nfe_XY=0;AC_nfe=2;AF_nfe=4.14491e-05;AN_nfe=48252;nhomalt_nfe=1;AC_raw=3;AF_raw=2.57171e-05;AN_raw=116654;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=614;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=614;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1228;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=782;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2242;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3024;nhomalt_sas=0;AC_grpmax=2;AF_grpmax=4.14491e-05;AN_grpmax=48252;nhomalt_grpmax=1;faf95=3.39000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=6.87000e-06;faf95_sas=0.00000;faf99=1.27000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=2.57000e-06;faf99_sas=0.00000;fafmax_faf99_max=2.57000e-06;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|1|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.37433;MQ=39.4371;MQRankSum=0.296000;QUALapprox=2321;QD=16.8188;ReadPosRankSum=0.363000;SOR=0.787000;VarDP=138;AS_FS=1.38377;AS_MQ=39.4448;AS_MQRankSum=0.198000;AS_pab_max=1.00000;AS_QUALapprox=2245;AS_QD=19.5217;AS_ReadPosRankSum=0.363000;AS_SB_TABLE=27,28|41,37;AS_SOR=0.767248;AS_VarDP=115;inbreeding_coeff=0.666658;AS_culprit=AS_MQ;AS_VQSLOD=-1.74300;allele_type=snv;n_alt_alleles=3;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|35303|8921|3320|964|304|109|32|2|1|3|0|1|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9669|20352|11405|5733|1675|101|18|5|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.101472;cadd_phred=2.10400;pangolin_largest_ds=0.00000;phylop=0.135000;VRS_Allele_IDs=ga4gh:VA.XVp4Jhbd7gLCyz4bSnvLciQAbDMJFFjl,ga4gh:VA.TGfAVtAdL81JxyynhInlEbuIdGB7Hzja;VRS_Starts=5030768,5030768;VRS_Ends=5030769,5030769;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1284T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1284T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1284T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1284T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1284T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1284T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1284T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1284T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1284T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030793	rs1987117233	T	C	.	AS_VQSR	AC=1;AN=92196;AF=1.08465e-05;grpmax=afr;AC_XX=0;AF_XX=0.00000;AN_XX=47954;nhomalt_XX=0;AC_XY=1;AF_XY=2.26030e-05;AN_XY=44242;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=9872;nhomalt_afr_XX=0;AC_afr_XY=1;AF_afr_XY=0.000124595;AN_afr_XY=8026;nhomalt_afr_XY=0;AC_afr=1;AF_afr=5.58722e-05;AN_afr=17898;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=346;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=342;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=688;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4554;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5662;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=10216;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1234;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1074;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2308;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=764;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=964;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1728;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1850;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5374;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7224;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=104;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=96;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=200;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27886;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=20016;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=47902;nhomalt_nfe=0;AC_raw=1;AF_raw=8.65696e-06;AN_raw=115514;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=600;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=580;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1180;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=744;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2108;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2852;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=5.58722e-05;AN_grpmax=17898;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=7.33933;MQ=38.7498;MQRankSum=0.847000;QUALapprox=647;QD=20.8710;ReadPosRankSum=-0.741000;SOR=2.40000;VarDP=31;AS_FS=7.33933;AS_MQ=38.7498;AS_MQRankSum=0.847000;AS_pab_max=0.803619;AS_QUALapprox=647;AS_QD=20.8710;AS_ReadPosRankSum=-0.741000;AS_SB_TABLE=4,5|4,18;AS_SOR=2.40042;AS_VarDP=31;inbreeding_coeff=-8.65703e-06;AS_culprit=AS_SOR;AS_VQSLOD=-4.64970;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|32607|8730|3301|1020|289|112|31|3|1|3|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9032|18698|10979|5613|1652|99|18|5|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.262254;cadd_phred=3.84800;phylop=0.408000;VRS_Allele_IDs=ga4gh:VA.tXngQGY2_LrG04PU5dSykDC9nhinlsBv,ga4gh:VA.Yvobn6tUMLkzmIfArTYT6iEWNq9cL-wI;VRS_Starts=5030792,5030792;VRS_Ends=5030793,5030793;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1260T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1260T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1260T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1260T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1260T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1260T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1260T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1260T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1260T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030803	.	TG	T	.	AC0;AS_VQSR	AC=0;AN=89394;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=46468;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=42926;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=8892;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=7236;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=16128;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=342;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=338;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=680;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4410;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5574;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9984;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1220;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1052;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2272;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=668;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=842;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1510;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1826;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5292;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7118;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=102;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=94;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=196;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27716;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19886;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=47602;nhomalt_nfe=0;AC_raw=1;AF_raw=8.74676e-06;AN_raw=114328;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=576;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=566;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1142;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=716;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2046;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2762;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=2.09215;MQ=40.5721;MQRankSum=0.888000;QUALapprox=79;QD=3.76190;ReadPosRankSum=0.00000;SOR=0.293000;VarDP=21;AS_FS=2.09215;AS_MQ=40.5721;AS_MQRankSum=0.888000;AS_pab_max=0.289063;AS_QUALapprox=79;AS_QD=3.76190;AS_ReadPosRankSum=0.00000;AS_SB_TABLE=6,11|2,2;AS_SOR=0.292877;AS_VarDP=21;inbreeding_coeff=-8.74684e-06;AS_culprit=AS_QD;AS_VQSLOD=-1.99310;negative_train_site;allele_type=del;n_alt_alleles=1;variant_type=indel;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|31279|8649|3321|1010|293|107|31|3|1|3|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|8689|17930|10772|5541|1643|97|17|6|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.386478;cadd_phred=0.205000;phylop=-0.367000;VRS_Allele_IDs=ga4gh:VA.6gf-B3QRba0-RKMju9WERnTrqe8dxk8c,ga4gh:VA.yKRaNizE6gBxMNFEdEOJfYkI9tAe5kqL;VRS_Starts=5030802,5030803;VRS_Ends=5030804,5030806;VRS_States=TG,GG;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1247del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1247del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1247del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1247del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1247del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1247del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1247del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1247del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1247del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030808	rs1987117366	A	G	.	PASS	AC=1;AN=88564;AF=1.12913e-05;grpmax=nfe;AC_XX=0;AF_XX=0.00000;AN_XX=45992;nhomalt_XX=0;AC_XY=1;AF_XY=2.34896e-05;AN_XY=42572;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=8586;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=6958;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=15544;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=338;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=338;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=676;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4400;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5554;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9954;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1214;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1056;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2270;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=624;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=820;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1444;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1814;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5308;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7122;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=100;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=94;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=194;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27640;nhomalt_nfe_XX=0;AC_nfe_XY=1;AF_nfe_XY=5.03423e-05;AN_nfe_XY=19864;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=2.10509e-05;AN_nfe=47504;nhomalt_nfe=0;AC_raw=2;AF_raw=1.75217e-05;AN_raw=114144;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=570;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=558;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1128;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=706;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2022;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2728;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=2.10509e-05;AN_grpmax=47504;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|1|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.926740;MQ=38.4356;MQRankSum=0.888000;QUALapprox=1255;QD=17.4306;ReadPosRankSum=0.888000;SOR=0.874000;VarDP=72;AS_FS=0.926740;AS_MQ=38.4356;AS_MQRankSum=0.888000;AS_pab_max=0.0595839;AS_QUALapprox=1255;AS_QD=17.4306;AS_ReadPosRankSum=0.888000;AS_SB_TABLE=13,13|21,25;AS_SOR=0.874090;AS_VarDP=72;inbreeding_coeff=-1.75220e-05;AS_culprit=AS_MQ;AS_VQSLOD=-1.81470;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|30862|8638|3316|1018|304|107|29|3|1|3|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|8646|17692|10666|5518|1638|96|19|5|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0;cadd_raw_score=0.0783880;cadd_phred=1.90500;pangolin_largest_ds=0.00000;phylop=0.443000;VRS_Allele_IDs=ga4gh:VA.Iq-ken2FSi9TnnYxFYhxziHtkqcaK9Du,ga4gh:VA.0UmEFHJVxKR1QKjbHNOVgIPNPhuWHcQh;VRS_Starts=5030807,5030807;VRS_Ends=5030808,5030808;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1245A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1245A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1245A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1245A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1245A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1245A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1245A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1245A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1245A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030814	rs1194438960	G	A	.	PASS	AC=5;AN=87396;AF=5.72109e-05;grpmax=nfe;fafmax_faf95_max=4.06100e-05;fafmax_faf95_max_gen_anc=nfe;AC_XX=2;AF_XX=4.40218e-05;AN_XX=45432;nhomalt_XX=1;AC_XY=3;AF_XY=7.14898e-05;AN_XY=41964;nhomalt_XY=1;nhomalt=2;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=8218;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=6628;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=14846;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=338;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=340;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=678;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4370;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5478;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9848;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1212;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1050;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2262;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=588;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=796;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1384;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1794;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5248;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7042;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=90;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=188;nhomalt_mid=0;AC_nfe_XX=2;AF_nfe_XX=7.25742e-05;AN_nfe_XX=27558;nhomalt_nfe_XX=1;AC_nfe_XY=3;AF_nfe_XY=0.000151530;AN_nfe_XY=19798;nhomalt_nfe_XY=1;AC_nfe=5;AF_nfe=0.000105583;AN_nfe=47356;nhomalt_nfe=2;AC_raw=5;AF_raw=4.40987e-05;AN_raw=113382;nhomalt_raw=2;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=562;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=550;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1112;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=694;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1986;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2680;nhomalt_sas=0;AC_grpmax=5;AF_grpmax=0.000105583;AN_grpmax=47356;nhomalt_grpmax=2;faf95=2.17200e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=4.06100e-05;faf95_sas=0.00000;faf99=1.41400e-05;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=2.63600e-05;faf99_sas=0.00000;fafmax_faf99_max=2.63600e-05;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|0|0|0|1|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.63645;MQ=39.7812;MQRankSum=-0.377000;QUALapprox=6101;QD=21.4824;ReadPosRankSum=0.296000;SOR=0.818000;VarDP=284;AS_FS=1.63645;AS_MQ=39.7812;AS_MQRankSum=-0.377000;AS_pab_max=0.838820;AS_QUALapprox=6101;AS_QD=21.4824;AS_ReadPosRankSum=0.296000;AS_SB_TABLE=38,36|114,96;AS_SOR=0.817621;AS_VarDP=284;inbreeding_coeff=0.799991;AS_culprit=AS_MQ;AS_VQSLOD=-1.59610;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|1|0|0|1|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|30294|8631|3304|1010|306|106|33|5|3|4|0|0|0|0|0|2;dp_hist_alt_bin_freq=0|0|0|1|1|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|8555|17374|10540|5481|1630|93|18|5|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.112808;cadd_phred=2.20800;pangolin_largest_ds=0.00000;phylop=-0.208000;VRS_Allele_IDs=ga4gh:VA.QI-PSdu3EMgHLYh9tumsbomPUU_F4lqo,ga4gh:VA.9wryj3zbokPZKcyT1VRaj6sx28LxKPS0;VRS_Starts=5030813,5030813;VRS_Ends=5030814,5030814;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1239G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1239G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1239G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1239G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1239G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1239G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1239G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1239G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1239G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030816	rs1485413981	G	A	.	PASS	AC=3;AN=87032;AF=3.44701e-05;grpmax=nfe;fafmax_faf95_max=1.67900e-05;fafmax_faf95_max_gen_anc=nfe;AC_XX=0;AF_XX=0.00000;AN_XX=45222;nhomalt_XX=0;AC_XY=3;AF_XY=7.17532e-05;AN_XY=41810;nhomalt_XY=1;nhomalt=1;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=8018;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=6502;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=14520;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=336;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=340;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=676;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4350;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5482;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9832;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1210;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1042;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2252;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=580;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=772;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1352;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1780;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5240;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7020;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=88;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=186;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27596;nhomalt_nfe_XX=0;AC_nfe_XY=3;AF_nfe_XY=0.000151576;AN_nfe_XY=19792;nhomalt_nfe_XY=1;AC_nfe=3;AF_nfe=6.33072e-05;AN_nfe=47388;nhomalt_nfe=1;AC_raw=3;AF_raw=2.65060e-05;AN_raw=113182;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=560;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=550;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1110;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=694;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2002;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2696;nhomalt_sas=0;AC_grpmax=3;AF_grpmax=6.33072e-05;AN_grpmax=47388;nhomalt_grpmax=1;faf95=9.16000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=1.67900e-05;faf95_sas=0.00000;faf99=4.54000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=8.65000e-06;faf99_sas=0.00000;fafmax_faf99_max=8.65000e-06;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=3.04152;MQ=36.9905;MQRankSum=0.0230000;QUALapprox=1112;QD=23.6596;ReadPosRankSum=0.895000;SOR=1.27000;VarDP=47;AS_FS=3.04152;AS_MQ=36.9905;AS_MQRankSum=0.0230000;AS_pab_max=0.136046;AS_QUALapprox=1112;AS_QD=23.6596;AS_ReadPosRankSum=0.895000;AS_SB_TABLE=5,5|23,14;AS_SOR=1.26976;AS_VarDP=47;inbreeding_coeff=0.666658;AS_culprit=AS_MQ;AS_VQSLOD=-2.22370;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|30065|8660|3313|1024|305|106|33|4|2|3|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|1|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|8556|17254|10495|5468|1627|92|17|5|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0;cadd_raw_score=-0.0594000;cadd_phred=1.00700;pangolin_largest_ds=0.00000;phylop=0.559000;VRS_Allele_IDs=ga4gh:VA.AgSnpLo3tk51nTB2W40lKK0_VgTeogpx,ga4gh:VA.TA_ZehcAZTx_-LKBH50CaQSRvPC_IbUX;VRS_Starts=5030815,5030815;VRS_Ends=5030816,5030816;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1237G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1237G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1237G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1237G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1237G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1237G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1237G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1237G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1237G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030827	rs1255299964	G	T	.	PASS	AC=12;AN=84916;AF=0.000141316;grpmax=nfe;AC_XX=5;AF_XX=0.000113497;AN_XX=44054;nhomalt_XX=1;AC_XY=7;AF_XY=0.000171308;AN_XY=40862;nhomalt_XY=2;nhomalt=3;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=7216;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=5842;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=13058;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=328;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=334;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=662;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4284;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5446;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9730;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1200;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1040;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2240;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=528;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=682;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1210;nhomalt_eas=0;AC_fin_XX=4;AF_fin_XX=0.00228311;AN_fin_XX=1752;nhomalt_fin_XX=1;AC_fin_XY=7;AF_fin_XY=0.00135031;AN_fin_XY=5184;nhomalt_fin_XY=2;AC_fin=11;AF_fin=0.00158593;AN_fin=6936;nhomalt_fin=3;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=88;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=186;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=3.64511e-05;AN_nfe_XX=27434;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19764;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=2.11873e-05;AN_nfe=47198;nhomalt_nfe=0;AC_raw=15;AF_raw=0.000134785;AN_raw=111288;nhomalt_raw=4;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=546;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=536;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1082;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=668;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1946;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2614;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=2.11873e-05;AN_grpmax=47198;nhomalt_grpmax=0;faf95=8.11400e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=6.32800e-05;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=1|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|1|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=41.4670;MQRankSum=-0.163000;QUALapprox=5428;QD=17.7386;ReadPosRankSum=0.628000;SOR=0.687000;VarDP=306;AS_FS=0.00000;AS_MQ=41.4670;AS_MQRankSum=-0.163000;AS_pab_max=1.00000;AS_QUALapprox=5428;AS_QD=17.7386;AS_ReadPosRankSum=0.628000;AS_SB_TABLE=57,58|96,95;AS_SOR=0.686792;AS_VarDP=306;inbreeding_coeff=0.533270;AS_culprit=AS_MQ;AS_VQSLOD=-1.27320;negative_train_site;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|2|0|0|0|0|0|0|0|0|0|1|0|6;gq_hist_all_bin_freq=0|0|0|0|29092|8573|3293|1031|309|113|33|3|1|3|0|0|0|1|0|6;dp_hist_alt_bin_freq=0|0|2|2|1|2|1|0|1|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|8419|16667|10257|5396|1602|93|17|5|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|1|2|0|0|1|1|1|0|0|0|0|0|0;cadd_raw_score=-0.113364;cadd_phred=0.778000;pangolin_largest_ds=0.0100000;phylop=0.513000;VRS_Allele_IDs=ga4gh:VA.eYS6dfLiIsGEDtwh0AlwLA_HsSQKbDSm,ga4gh:VA.dsJmQGuRvpp4VuPWye5DTzQ3ffg54-tJ;VRS_Starts=5030826,5030826;VRS_Ends=5030827,5030827;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1226G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1226G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1226G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1226G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1226G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1226G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1226G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1226G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1226G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030837	.	CT	C	.	AC0	AC=0;AN=82868;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=43032;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=39836;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=6412;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=5236;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=11648;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=328;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=334;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=662;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4220;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5374;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9594;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1186;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1024;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2210;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=458;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=592;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1050;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1734;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5126;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6860;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=80;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=178;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27408;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19654;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=47062;nhomalt_nfe=0;AC_raw=1;AF_raw=9.20810e-06;AN_raw=108600;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=530;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=532;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1062;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=658;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1884;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2542;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=39.2544;MQRankSum=2.07300;QUALapprox=161;QD=7.66667;ReadPosRankSum=1.36800;SOR=0.859000;VarDP=21;AS_FS=0.00000;AS_MQ=39.2544;AS_MQRankSum=2.07300;AS_pab_max=1.00000;AS_QUALapprox=161;AS_QD=7.66667;AS_ReadPosRankSum=1.36800;AS_SB_TABLE=6,9|2,4;AS_SOR=0.859132;AS_VarDP=21;inbreeding_coeff=-9.20819e-06;AS_culprit=AS_FS;AS_VQSLOD=16.1851;allele_type=del;n_alt_alleles=1;variant_type=indel;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|28195|8476|3306|1004|304|105|36|4|1|3|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|8236|16178|9995|5326|1583|93|16|5|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.279599;cadd_phred=0.344000;phylop=0.565000;VRS_Allele_IDs=ga4gh:VA.v_lWCntwUuOUsoHpC97ZTXZ1sweT7krq,ga4gh:VA.dKlfW1R02FELqENSkXtY3zhcukcQJzNX;VRS_Starts=5030836,5030837;VRS_Ends=5030838,5030839;VRS_States=CT,T;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1214del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1214del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1214del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1214del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1214del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1214del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1214del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1214del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1214del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030845	rs1212234417	G	A	.	PASS	AC=24;AN=81914;AF=0.000292990;grpmax=sas;fafmax_faf95_max=0.000146560;fafmax_faf95_max_gen_anc=nfe;AC_XX=13;AF_XX=0.000305782;AN_XX=42514;nhomalt_XX=4;AC_XY=11;AF_XY=0.000279188;AN_XY=39400;nhomalt_XY=3;nhomalt=7;AC_afr_XX=1;AF_afr_XX=0.000164799;AN_afr_XX=6068;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4910;nhomalt_afr_XY=0;AC_afr=1;AF_afr=9.10913e-05;AN_afr=10978;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=324;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=328;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=652;nhomalt_ami=0;AC_amr_XX=3;AF_amr_XX=0.000715308;AN_amr_XX=4194;nhomalt_amr_XX=1;AC_amr_XY=1;AF_amr_XY=0.000187758;AN_amr_XY=5326;nhomalt_amr_XY=0;AC_amr=4;AF_amr=0.000420168;AN_amr=9520;nhomalt_amr=1;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1180;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1024;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2204;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=414;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=564;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=978;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1714;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5138;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6852;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=88;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=80;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=168;nhomalt_mid=0;AC_nfe_XX=4;AF_nfe_XX=0.000146231;AN_nfe_XX=27354;nhomalt_nfe_XX=1;AC_nfe_XY=8;AF_nfe_XY=0.000407125;AN_nfe_XY=19650;nhomalt_nfe_XY=2;AC_nfe=12;AF_nfe=0.000255297;AN_nfe=47004;nhomalt_nfe=3;AC_raw=26;AF_raw=0.000243715;AN_raw=106682;nhomalt_raw=8;AC_remaining_XX=5;AF_remaining_XX=0.00932836;AN_remaining_XX=536;nhomalt_remaining_XX=2;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=526;nhomalt_remaining_XY=0;AC_remaining=5;AF_remaining=0.00470810;AN_remaining=1062;nhomalt_remaining=2;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=642;nhomalt_sas_XX=0;AC_sas_XY=2;AF_sas_XY=0.00107875;AN_sas_XY=1854;nhomalt_sas_XY=1;AC_sas=2;AF_sas=0.000801282;AN_sas=2496;nhomalt_sas=1;AC_grpmax=2;AF_grpmax=0.000801282;AN_grpmax=2496;nhomalt_grpmax=1;faf95=0.000201600;faf95_afr=0.00000;faf95_amr=0.000143320;faf95_eas=0.00000;faf95_nfe=0.000146560;faf95_sas=0.000141510;faf99=0.000171850;faf99_afr=0.00000;faf99_amr=8.63700e-05;faf99_eas=0.00000;faf99_nfe=0.000114880;faf99_sas=5.94800e-05;fafmax_faf99_max=0.000114880;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|1|0|0|0|0|0|1|1|0;age_hist_het_n_smaller=1;age_hist_het_n_larger=0;age_hist_hom_bin_freq=1|0|0|1|1|0|2|0|1|0;age_hist_hom_n_smaller=1;age_hist_hom_n_larger=0;FS=0.550708;MQ=40.5523;MQRankSum=-0.460000;QUALapprox=22748;QD=18.5698;ReadPosRankSum=0.306000;SOR=0.806000;VarDP=1225;AS_FS=0.550708;AS_MQ=40.4927;AS_MQRankSum=-0.488000;AS_pab_max=1.00000;AS_QUALapprox=22732;AS_QD=18.7249;AS_ReadPosRankSum=0.306000;AS_SB_TABLE=227,199|446,351;AS_SOR=0.806856;AS_VarDP=1214;inbreeding_coeff=0.615291;AS_culprit=AS_MQ;AS_VQSLOD=-1.45840;negative_train_site;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|3|0|0|3|1|0|0|0|0|0|0|0|0|10;gq_hist_all_bin_freq=0|0|0|0|27647|8472|3308|1037|312|109|36|3|1|3|0|0|0|0|0|10;dp_hist_alt_bin_freq=0|0|3|7|0|1|4|1|1|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|8257|15874|9842|5278|1572|92|17|4|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|1|1|1|2|2|3|0|0|0|0|0|0|0|0;cadd_raw_score=0.120983;cadd_phred=2.28500;pangolin_largest_ds=0.00000;phylop=-0.206000;VRS_Allele_IDs=ga4gh:VA.TIhN5BCYkEO8fR-gw1RNoMn61MiUGg7F,ga4gh:VA.orAbmqfjVC_CzSaJS3VeQ33XVj_sCNb0;VRS_Starts=5030844,5030844;VRS_Ends=5030845,5030845;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1208G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1208G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1208G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1208G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1208G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1208G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1208G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1208G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1208G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030852	.	C	A	.	AC0;AS_VQSR	AC=0;AN=80840;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=41974;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=38866;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5764;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4658;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=10422;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=324;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=332;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=656;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4134;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5260;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9394;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1170;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1020;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2190;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=408;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=526;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=934;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1712;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5088;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6800;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=82;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=180;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27210;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19580;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46790;nhomalt_nfe=0;AC_raw=1;AF_raw=9.65176e-06;AN_raw=103608;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=516;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=512;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1028;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=638;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1808;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2446;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;MQ=27.0000;MQRankSum=0.736000;QUALapprox=65;QD=21.6667;ReadPosRankSum=0.736000;SOR=1.60900;VarDP=3;AS_MQ=27.0000;AS_MQRankSum=0.736000;AS_pab_max=1.00000;AS_QUALapprox=65;AS_QD=21.6667;AS_ReadPosRankSum=0.736000;AS_SB_TABLE=1,1|0,1;AS_SOR=1.60944;AS_VarDP=3;inbreeding_coeff=-9.65186e-06;AS_culprit=AS_MQ;AS_VQSLOD=-4.66230;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|27210|8408|3285|1042|319|108|40|3|1|4|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|8118|15674|9717|5237|1559|92|16|5|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0751840;cadd_phred=1.87800;phylop=0.565000;VRS_Allele_IDs=ga4gh:VA.iBlAVTDoUeOQEojV40jlc6k0JLx17Ge2,ga4gh:VA.9W_2EQa9c75gIWtBp_xOMDDuyaHwNx2N;VRS_Starts=5030851,5030851;VRS_Ends=5030852,5030852;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1201C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1201C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1201C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1201C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1201C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1201C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1201C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1201C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1201C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030860	.	T	C	.	AC0	AC=0;AN=80078;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=41598;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=38480;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5634;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4566;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=10200;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=322;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=322;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=644;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4078;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5222;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9300;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1150;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1020;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2170;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=390;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=508;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=898;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1678;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5022;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6700;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=80;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=178;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27128;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19426;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46554;nhomalt_nfe=0;AC_raw=3;AF_raw=2.97684e-05;AN_raw=100778;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=504;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=508;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1012;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=616;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1806;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2422;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.95815;MQ=43.0401;MQRankSum=0.691000;QUALapprox=182;QD=10.1111;ReadPosRankSum=0.0990000;SOR=1.37100;VarDP=18;AS_FS=2.18679;AS_MQ=44.5514;AS_MQRankSum=0.691000;AS_pab_max=0.0224609;AS_QUALapprox=86;AS_QD=5.73333;AS_ReadPosRankSum=0.0990000;AS_SB_TABLE=5,6|1,3;AS_SOR=1.37087;AS_VarDP=15;inbreeding_coeff=0.666657;AS_culprit=AS_QD;AS_VQSLOD=-2.08820;negative_train_site;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|26812|8378|3287|1076|327|109|42|3|1|4|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|8158|15425|9580|5210|1553|91|15|5|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.276963;cadd_phred=4.02000;phylop=0.444000;VRS_Allele_IDs=ga4gh:VA.rdQdWEYFt6kLF7MOALuK8C3s7cRb634f,ga4gh:VA.2XhkSqVANptnSe11r0FaMblXCfKNkDpj;VRS_Starts=5030859,5030859;VRS_Ends=5030860,5030860;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1193T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1193T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1193T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1193T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1193T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1193T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1193T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1193T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1193T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030866	.	A	C	.	AC0;AS_VQSR	AC=0;AN=75440;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=39230;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=36210;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=4520;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=3720;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=8240;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=300;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=316;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=616;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3806;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4868;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8674;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1110;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=978;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2088;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=336;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=430;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=766;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1606;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4814;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6420;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=90;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=82;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=172;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26432;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18968;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=45400;nhomalt_nfe=0;AC_raw=1;AF_raw=1.05419e-05;AN_raw=94860;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=484;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=472;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=956;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=546;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1562;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2108;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=142.130;MQ=34.1479;MQRankSum=-1.44900;QUALapprox=1101540;QD=17.1925;ReadPosRankSum=-0.727000;SOR=5.12900;VarDP=64071;AS_FS=.;AS_MQ=27.0000;AS_pab_max=1.00000;AS_QUALapprox=99;AS_QD=33.0000;AS_SB_TABLE=14157,11131|0,3;AS_SOR=2.81050;AS_VarDP=3;inbreeding_coeff=-1.05420e-05;AS_culprit=AS_SOR;AS_VQSLOD=-8.01930;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25044|7781|3057|961|337|149|89|71|45|37|34|17|16|26|12|44;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|8189|14476|8752|4746|1451|84|14|5|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.188774;cadd_phred=2.99700;phylop=-0.841000;VRS_Allele_IDs=ga4gh:VA.QMORE0W9Ql_6cOb5J-ENm3jQmyv8PrLQ,ga4gh:VA.V5SHchUxa13pQQdvBU5T98DG2U6QA2or;VRS_Starts=5030865,5030865;VRS_Ends=5030866,5030866;VRS_States=A,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1187A>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1187A>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1187A>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1187A>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1187A>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1187A>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1187A>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1187A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1187A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030866	rs1442940209	A	G	.	AS_VQSR	AC=376;AN=74512;AF=0.00504617;grpmax=afr;fafmax_faf95_max=0.0155470;fafmax_faf95_max_gen_anc=afr;AC_XX=178;AF_XX=0.00458999;AN_XX=38780;nhomalt_XX=5;AC_XY=198;AF_XY=0.00554125;AN_XY=35732;nhomalt_XY=3;nhomalt=8;AC_afr_XX=73;AF_afr_XX=0.0167585;AN_afr_XX=4356;nhomalt_afr_XX=5;AC_afr_XY=69;AF_afr_XY=0.0194147;AN_afr_XY=3554;nhomalt_afr_XY=3;AC_afr=142;AF_afr=0.0179520;AN_afr=7910;nhomalt_afr=8;AC_ami_XX=5;AF_ami_XX=0.0171233;AN_ami_XX=292;nhomalt_ami_XX=0;AC_ami_XY=2;AF_ami_XY=0.00641026;AN_ami_XY=312;nhomalt_ami_XY=0;AC_ami=7;AF_ami=0.0115894;AN_ami=604;nhomalt_ami=0;AC_amr_XX=26;AF_amr_XX=0.00691857;AN_amr_XX=3758;nhomalt_amr_XX=0;AC_amr_XY=36;AF_amr_XY=0.00750939;AN_amr_XY=4794;nhomalt_amr_XY=0;AC_amr=62;AF_amr=0.00724977;AN_amr=8552;nhomalt_amr=0;AC_asj_XX=4;AF_asj_XX=0.00364299;AN_asj_XX=1098;nhomalt_asj_XX=0;AC_asj_XY=1;AF_asj_XY=0.00103734;AN_asj_XY=964;nhomalt_asj_XY=0;AC_asj=5;AF_asj=0.00242483;AN_asj=2062;nhomalt_asj=0;AC_eas_XX=3;AF_eas_XX=0.00920245;AN_eas_XX=326;nhomalt_eas_XX=0;AC_eas_XY=5;AF_eas_XY=0.0119617;AN_eas_XY=418;nhomalt_eas_XY=0;AC_eas=8;AF_eas=0.0107527;AN_eas=744;nhomalt_eas=0;AC_fin_XX=4;AF_fin_XX=0.00251256;AN_fin_XX=1592;nhomalt_fin_XX=0;AC_fin_XY=25;AF_fin_XY=0.00524549;AN_fin_XY=4766;nhomalt_fin_XY=0;AC_fin=29;AF_fin=0.00456118;AN_fin=6358;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=80;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=80;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=160;nhomalt_mid=0;AC_nfe_XX=57;AF_nfe_XX=0.00216945;AN_nfe_XX=26274;nhomalt_nfe_XX=0;AC_nfe_XY=44;AF_nfe_XY=0.00233496;AN_nfe_XY=18844;nhomalt_nfe_XY=0;AC_nfe=101;AF_nfe=0.00223857;AN_nfe=45118;nhomalt_nfe=0;AC_raw=11416;AF_raw=0.120275;AN_raw=94916;nhomalt_raw=5173;AC_remaining_XX=4;AF_remaining_XX=0.00836820;AN_remaining_XX=478;nhomalt_remaining_XX=0;AC_remaining_XY=3;AF_remaining_XY=0.00635593;AN_remaining_XY=472;nhomalt_remaining_XY=0;AC_remaining=7;AF_remaining=0.00736842;AN_remaining=950;nhomalt_remaining=0;AC_sas_XX=2;AF_sas_XX=0.00380228;AN_sas_XX=526;nhomalt_sas_XX=0;AC_sas_XY=13;AF_sas_XY=0.00850785;AN_sas_XY=1528;nhomalt_sas_XY=0;AC_sas=15;AF_sas=0.00730282;AN_sas=2054;nhomalt_sas=0;AC_grpmax=142;AF_grpmax=0.0179520;AN_grpmax=7910;nhomalt_grpmax=8;faf95=0.00462577;faf95_afr=0.0155470;faf95_amr=0.00580375;faf95_eas=0.00534966;faf95_nfe=0.00188423;faf95_sas=0.00450107;faf99=0.00445963;faf99_afr=0.0146337;faf99_amr=0.00528088;faf99_eas=0.00390582;faf99_nfe=0.00175269;faf99_sas=0.00363941;fafmax_faf99_max=0.0146337;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=6|7|9|7|22|31|18|14|10|6;age_hist_het_n_smaller=22;age_hist_het_n_larger=2;age_hist_hom_bin_freq=0|0|0|0|0|1|1|0|0|1;age_hist_hom_n_smaller=1;age_hist_hom_n_larger=0;FS=142.130;MQ=34.1479;MQRankSum=-1.44900;QUALapprox=1101540;QD=17.1925;ReadPosRankSum=-0.727000;SOR=5.12900;VarDP=64071;AS_FS=142.130;AS_MQ=34.1480;AS_MQRankSum=-1.43400;AS_pab_max=1.00000;AS_QUALapprox=1101495;AS_QD=17.1921;AS_ReadPosRankSum=-0.700000;AS_SB_TABLE=14157,11131|2774,36008;AS_SOR=5.12990;AS_VarDP=64070;inbreeding_coeff=0.893458;AS_culprit=AS_FS;AS_VQSLOD=-18.8439;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|4|35|8|18|23|30|54|29|25|31|17|13|25|12|43;gq_hist_all_bin_freq=0|0|0|0|24975|7709|2978|904|265|104|63|56|29|28|32|17|13|25|12|43;dp_hist_alt_bin_freq=0|0|187|128|41|9|2|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|8072|14334|8592|4714|1438|82|14|4|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|200|117|31|7|5|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.218441;cadd_phred=3.33600;phylop=-0.841000;VRS_Allele_IDs=ga4gh:VA.QMORE0W9Ql_6cOb5J-ENm3jQmyv8PrLQ,ga4gh:VA.ig-R-8DTMAt0pPgXWW1YvFkuI2s49prI;VRS_Starts=5030865,5030865;VRS_Ends=5030866,5030866;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1187A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1187A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1187A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1187A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1187A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1187A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1187A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1187A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1187A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030870	rs1987117710	C	T	.	AC0	AC=0;AN=79764;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=41478;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=38286;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5516;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4466;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9982;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=318;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=330;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=648;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4084;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5184;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9268;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1158;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1008;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2166;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=396;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=500;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=896;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1680;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5020;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6700;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=82;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=180;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27112;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19430;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46542;nhomalt_nfe=0;AC_raw=2;AF_raw=1.91556e-05;AN_raw=104408;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=502;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=506;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1008;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=614;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1760;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2374;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=36.3456;QUALapprox=178;QD=35.6000;SOR=1.02200;VarDP=5;AS_MQ=38.3275;AS_QUALapprox=133;AS_QD=33.2500;AS_SB_TABLE=0,0|2,2;AS_SOR=0.693147;AS_VarDP=4;inbreeding_coeff=1.00000;AS_culprit=AS_QD;AS_VQSLOD=-1.52410;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25805|8357|3596|1281|444|215|97|33|26|17|6|3|1|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9051|15418|9013|4824|1466|89|13|5|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.161233;cadd_phred=2.69400;phylop=0.565000;VRS_Allele_IDs=ga4gh:VA.NaVYgcU73h9JNEkS5T5JSV0Dq06vOv_A,ga4gh:VA.BV44wbfIPQYboar30twKkhIHS1ZAKyGT;VRS_Starts=5030869,5030869;VRS_Ends=5030870,5030870;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1183C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1183C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1183C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1183C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1183C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1183C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1183C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1183C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1183C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030871	.	C	T	.	AC0;AS_VQSR	AC=0;AN=79844;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=41508;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=38336;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5522;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4490;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=10012;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=320;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=330;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=650;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4078;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5196;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9274;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1160;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1018;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2178;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=394;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=494;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=888;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1678;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5022;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6700;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=82;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=180;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27136;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19440;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46576;nhomalt_nfe=0;AC_raw=4;AF_raw=3.81032e-05;AN_raw=104978;nhomalt_raw=2;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=508;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=506;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1014;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=614;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1758;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2372;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=5.17976;MQ=36.6915;MQRankSum=-0.736000;QUALapprox=153;QD=8.05263;ReadPosRankSum=0.736000;SOR=1.50200;VarDP=19;AS_FS=6.86381;AS_MQ=27.0000;AS_QUALapprox=118;AS_QD=59.0000;AS_SB_TABLE=6,9|2,0;AS_SOR=2.25024;AS_VarDP=2;inbreeding_coeff=1.00000;AS_culprit=AS_QD;AS_VQSLOD=-6.68890;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25830|8372|3598|1286|439|213|97|33|26|17|6|3|1|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9124|15396|9005|4823|1463|89|14|5|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.166320;cadd_phred=2.74900;phylop=0.565000;VRS_Allele_IDs=ga4gh:VA.nP4nvNbyLsZCFdpz0sf6E8GwEYC9zAvx,ga4gh:VA.JPITppeWJoFcYDXR7hCMPYBxCWr3r4mM;VRS_Starts=5030870,5030870;VRS_Ends=5030871,5030871;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1182C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1182C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1182C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1182C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1182C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1182C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1182C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1182C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1182C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030872	.	T	A	.	AC0	AC=0;AN=79596;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=41388;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=38208;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5506;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4486;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9992;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=312;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=326;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=638;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4078;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5184;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9262;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1160;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1020;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2180;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=396;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=482;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=878;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1676;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4970;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6646;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=82;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=180;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27034;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19410;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46444;nhomalt_nfe=0;AC_raw=1;AF_raw=9.48029e-06;AN_raw=105482;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=510;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=508;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1018;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=618;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1740;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2358;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.83322;MQ=35.2522;MQRankSum=0.727000;QUALapprox=326;QD=15.5238;ReadPosRankSum=0.727000;SOR=1.23000;VarDP=21;AS_FS=2.59637;AS_MQ=36.9704;AS_MQRankSum=0.727000;AS_pab_max=0.625000;AS_QUALapprox=122;AS_QD=7.62500;AS_ReadPosRankSum=0.727000;AS_SB_TABLE=5,8|2,1;AS_SOR=0.991192;AS_VarDP=16;inbreeding_coeff=-9.48038e-06;AS_culprit=AS_MQ;AS_VQSLOD=-2.02370;negative_train_site;allele_type=snv;n_alt_alleles=4;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25797|8343|3588|1254|432|204|93|33|26|17|6|3|1|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9087|15327|8993|4817|1463|89|14|5|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.261166;cadd_phred=3.83500;phylop=-0.365000;VRS_Allele_IDs=ga4gh:VA.XsnfK_HgSETXUApx2YRaWrEs6NR-Fpe5,ga4gh:VA.pvKGFK1iot_ZVFdudon-Q-mRqoD5L6Cs;VRS_Starts=5030871,5030871;VRS_Ends=5030872,5030872;VRS_States=T,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1181T>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1181T>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1181T>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1181T>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1181T>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1181T>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1181T>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1181T>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1181T>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030872	.	T	C	.	AC0;AS_VQSR	AC=0;AN=79596;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=41388;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=38208;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5506;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4486;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9992;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=312;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=326;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=638;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4078;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5184;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9262;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1160;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1020;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2180;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=396;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=482;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=878;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1676;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4970;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6646;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=82;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=180;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27034;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19410;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46444;nhomalt_nfe=0;AC_raw=2;AF_raw=1.89606e-05;AN_raw=105482;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=510;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=508;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1018;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=618;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1740;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2358;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.83322;MQ=35.2522;MQRankSum=0.727000;QUALapprox=326;QD=15.5238;ReadPosRankSum=0.727000;SOR=1.23000;VarDP=21;AS_FS=2.80827;AS_MQ=34.1248;AS_QUALapprox=79;AS_QD=39.5000;AS_SB_TABLE=5,8|0,2;AS_SOR=1.60944;AS_VarDP=2;inbreeding_coeff=1.00000;AS_culprit=AS_MQ;AS_VQSLOD=-3.50250;negative_train_site;allele_type=snv;n_alt_alleles=4;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25797|8343|3588|1254|432|204|93|33|26|17|6|3|1|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9087|15327|8993|4817|1463|89|14|5|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.309580;cadd_phred=4.40000;phylop=-0.365000;VRS_Allele_IDs=ga4gh:VA.XsnfK_HgSETXUApx2YRaWrEs6NR-Fpe5,ga4gh:VA.Wmwh3QDr6rViskVmIJqRINB1NlKSK3qu;VRS_Starts=5030871,5030871;VRS_Ends=5030872,5030872;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1181T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1181T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1181T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1181T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1181T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1181T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1181T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1181T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1181T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030873	.	A	C	.	AC0;AS_VQSR	AC=0;AN=80048;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=41564;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=38484;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5562;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4530;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=10092;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=312;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=330;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=642;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4102;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5206;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9308;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1168;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1020;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2188;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=398;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=496;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=894;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1682;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5060;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6742;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=82;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=180;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27114;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19480;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46594;nhomalt_nfe=0;AC_raw=4;AF_raw=3.74350e-05;AN_raw=106852;nhomalt_raw=2;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=506;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=510;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1016;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=622;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1770;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2392;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=2.17067;MQ=31.8188;MQRankSum=0.804000;QUALapprox=242;QD=15.1250;ReadPosRankSum=0.804000;SOR=0.223000;VarDP=16;AS_FS=2.92013;AS_MQ=27.0000;AS_MQRankSum=0.804000;AS_pab_max=1.00000;AS_QUALapprox=188;AS_QD=47.0000;AS_ReadPosRankSum=0.804000;AS_SB_TABLE=7,3|1,2;AS_SOR=0.916291;AS_VarDP=4;inbreeding_coeff=1.00000;AS_culprit=AS_QD;AS_VQSLOD=-5.87810;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25876|8408|3651|1262|442|205|93|33|26|17|6|3|1|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9273|15362|8995|4820|1463|89|14|5|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.114605;cadd_phred=2.22500;phylop=-0.213000;VRS_Allele_IDs=ga4gh:VA.bb79CV8UeQOU5pJ1lRgiG7jTwboD5ovy,ga4gh:VA.kO9aOsKwNaqGBrh_WdEIORkCkM1L1U-X;VRS_Starts=5030872,5030872;VRS_Ends=5030873,5030873;VRS_States=A,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1180A>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1180A>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1180A>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1180A>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1180A>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1180A>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1180A>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1180A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1180A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030875	.	G	T	.	AC0;AS_VQSR	AC=0;AN=79522;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=41384;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=38138;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5486;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4482;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9968;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=318;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=322;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=640;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4066;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5160;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9226;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1162;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1010;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2172;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=388;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=496;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=884;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1670;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4946;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6616;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=82;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=180;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27074;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19382;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46456;nhomalt_nfe=0;AC_raw=2;AF_raw=1.85791e-05;AN_raw=107648;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=502;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=504;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1006;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=620;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1754;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2374;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=32.3110;MQRankSum=0.804000;QUALapprox=155;QD=31.0000;ReadPosRankSum=0.804000;SOR=0.223000;VarDP=5;AS_MQ=33.5075;AS_MQRankSum=0.804000;AS_pab_max=1.00000;AS_QUALapprox=110;AS_QD=27.5000;AS_ReadPosRankSum=0.804000;AS_SB_TABLE=0,1|1,2;AS_SOR=0.446287;AS_VarDP=4;inbreeding_coeff=1.00000;AS_culprit=AS_MQ;AS_VQSLOD=-3.41280;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25759|8349|3591|1248|434|203|90|33|26|17|6|3|1|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9126|15267|8981|4815|1462|88|14|5|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.110971;cadd_phred=2.19100;phylop=0.560000;VRS_Allele_IDs=ga4gh:VA.svjZhlU5d2JXtxIYO-wHBkBSktevdOVi,ga4gh:VA.ZE45AAKbjio9jJEO6hqBKoMHaiCsEbNx;VRS_Starts=5030874,5030874;VRS_Ends=5030875,5030875;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1178G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1178G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1178G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1178G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1178G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1178G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1178G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1178G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1178G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030876	.	A	C	.	AC0;AS_VQSR	AC=0;AN=79520;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=41370;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=38150;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5502;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4454;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9956;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=316;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=328;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=644;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4084;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5142;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9226;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1162;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1012;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2174;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=392;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=496;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=888;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1666;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5002;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6668;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=78;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=176;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27024;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19376;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46400;nhomalt_nfe=0;AC_raw=3;AF_raw=2.76223e-05;AN_raw=108608;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=506;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=508;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1014;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=620;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1754;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2374;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=14.0386;MQ=34.5104;MQRankSum=0.736000;QUALapprox=186;QD=6.20000;ReadPosRankSum=0.736000;SOR=2.80400;VarDP=30;AS_FS=10.1931;AS_MQ=35.5638;AS_MQRankSum=0.804000;AS_pab_max=1.00000;AS_QUALapprox=111;AS_QD=7.92857;AS_ReadPosRankSum=0.804000;AS_SB_TABLE=13,9|0,4;AS_SOR=3.23908;AS_VarDP=14;inbreeding_coeff=0.666657;AS_culprit=AS_SOR;AS_VQSLOD=-6.24280;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25762|8359|3587|1242|431|202|91|33|24|18|6|3|1|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9152|15259|8967|4812|1460|89|14|5|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.274872;cadd_phred=3.99600;phylop=-0.354000;VRS_Allele_IDs=ga4gh:VA.o_483G-LUYrqUdJjj9uVvf4ir3V0V07a,ga4gh:VA.aYdG1L6DAb1Lk9JFDruDnw7R8BgmYSff;VRS_Starts=5030875,5030875;VRS_Ends=5030876,5030876;VRS_States=A,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1177A>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1177A>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1177A>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1177A>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1177A>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1177A>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1177A>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1177A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1177A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030876	.	A	G	.	AC0	AC=0;AN=79520;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=41370;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=38150;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5502;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4454;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9956;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=316;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=328;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=644;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4084;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5142;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9226;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1162;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1012;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2174;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=392;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=496;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=888;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1666;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5002;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6668;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=78;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=176;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27024;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19376;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46400;nhomalt_nfe=0;AC_raw=2;AF_raw=1.84148e-05;AN_raw=108608;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=506;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=508;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1014;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=620;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1754;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2374;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=14.0386;MQ=34.5104;MQRankSum=0.736000;QUALapprox=186;QD=6.20000;ReadPosRankSum=0.736000;SOR=2.80400;VarDP=30;AS_FS=5.14155;AS_MQ=33.5615;AS_MQRankSum=0.736000;AS_pab_max=1.00000;AS_QUALapprox=75;AS_QD=4.68750;AS_ReadPosRankSum=0.736000;AS_SB_TABLE=13,9|1,3;AS_SOR=1.50634;AS_VarDP=16;inbreeding_coeff=-1.84152e-05;AS_culprit=AS_MQ;AS_VQSLOD=-2.33190;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25762|8359|3587|1242|431|202|91|33|24|18|6|3|1|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9152|15259|8967|4812|1460|89|14|5|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.304539;cadd_phred=4.34200;phylop=-0.354000;VRS_Allele_IDs=ga4gh:VA.o_483G-LUYrqUdJjj9uVvf4ir3V0V07a,ga4gh:VA.rK4PwKUKWEecRnDRoQ0Hb_CFQwzLXXRA;VRS_Starts=5030875,5030875;VRS_Ends=5030876,5030876;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1177A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1177A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1177A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1177A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1177A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1177A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1177A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1177A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1177A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030877	.	C	A	.	AC0;AS_VQSR	AC=0;AN=79680;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=41414;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=38266;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5534;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4502;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=10036;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=316;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=328;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=644;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4052;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5176;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9228;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1166;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1018;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2184;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=384;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=500;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=884;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1674;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4996;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6670;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=82;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=180;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27068;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19416;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46484;nhomalt_nfe=0;AC_raw=2;AF_raw=1.82508e-05;AN_raw=109584;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=502;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=506;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1008;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=620;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1742;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2362;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=4.82164e-16;MQ=36.9016;MQRankSum=-1.27100;QUALapprox=97;QD=8.81818;ReadPosRankSum=-0.480000;SOR=1.17900;VarDP=11;AS_FS=4.82164e-16;AS_MQ=36.9016;AS_MQRankSum=-1.27100;AS_pab_max=0.109375;AS_QUALapprox=97;AS_QD=8.81818;AS_ReadPosRankSum=-0.480000;AS_SB_TABLE=4,4|2,1;AS_SOR=1.17865;AS_VarDP=11;inbreeding_coeff=1.00000;AS_culprit=AS_MQ;AS_VQSLOD=-2.88870;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25794|8371|3608|1250|430|208|93|33|24|18|6|3|1|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9246|15253|8965|4806|1459|89|14|6|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.116140;cadd_phred=2.23900;phylop=-0.849000;VRS_Allele_IDs=ga4gh:VA.lhMWDXYHWRR5WnV-lDI14xDkUv3Y1hC5,ga4gh:VA.r5JX0NU_yIMOGCMY78hHwm-r1vM3ewvd;VRS_Starts=5030876,5030876;VRS_Ends=5030877,5030877;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1176C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1176C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1176C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1176C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1176C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1176C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1176C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1176C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1176C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030878	.	C	A	.	AC0	AC=0;AN=79568;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=41370;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=38198;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5536;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4510;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=10046;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=320;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=328;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=648;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4080;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5166;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9246;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1168;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1018;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2186;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=392;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=506;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=898;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1670;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4998;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6668;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=88;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=78;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=166;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27000;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19352;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46352;nhomalt_nfe=0;AC_raw=8;AF_raw=7.23144e-05;AN_raw=110628;nhomalt_raw=3;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=502;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=508;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1010;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=614;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1734;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2348;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=40.1999;MQRankSum=0.736000;QUALapprox=283;QD=10.1071;ReadPosRankSum=0.322000;SOR=0.450000;VarDP=28;AS_FS=0.00000;AS_MQ=40.6065;AS_MQRankSum=0.736000;AS_pab_max=1.00000;AS_QUALapprox=238;AS_QD=8.81481;AS_ReadPosRankSum=0.322000;AS_SB_TABLE=6,12|3,6;AS_SOR=0.635488;AS_VarDP=27;inbreeding_coeff=0.749982;AS_culprit=AS_MQ;AS_VQSLOD=-1.87830;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25735|8373|3597|1253|435|207|93|33|24|18|6|3|1|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9216|15218|8969|4805|1460|89|14|6|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.112763;cadd_phred=2.20800;phylop=0.565000;VRS_Allele_IDs=ga4gh:VA.uTN8WHzle4hldj3UOvIG2OHcuMstFdjL,ga4gh:VA.v7Ya2SawWFiEKEXU2ynfTUMVzz1613-h;VRS_Starts=5030877,5030877;VRS_Ends=5030878,5030878;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1175C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1175C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1175C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1175C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1175C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1175C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1175C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1175C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1175C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030880	.	A	C	.	AC0;AS_VQSR	AC=0;AN=79290;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=41232;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=38058;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5500;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4466;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9966;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=310;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=324;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=634;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4052;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5136;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9188;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1152;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1014;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2166;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=392;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=504;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=896;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1652;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4986;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6638;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=82;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=180;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26962;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19320;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46282;nhomalt_nfe=0;AC_raw=6;AF_raw=5.35963e-05;AN_raw=111948;nhomalt_raw=3;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=496;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=498;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=994;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=618;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1728;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2346;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=4.82164e-16;MQ=37.1699;MQRankSum=0.00000;QUALapprox=278;QD=30.8889;ReadPosRankSum=0.00000;SOR=0.368000;VarDP=9;AS_FS=.;AS_MQ=30.7693;AS_QUALapprox=155;AS_QD=51.6667;AS_SB_TABLE=0,2|0,3;AS_SOR=1.02165;AS_VarDP=3;inbreeding_coeff=1.00000;AS_culprit=AS_QD;AS_VQSLOD=-3.89370;negative_train_site;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25705|8330|3565|1237|433|198|92|33|24|17|6|3|1|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9211|15130|8933|4804|1456|89|14|6|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0811050;cadd_phred=1.92700;phylop=0.443000;VRS_Allele_IDs=ga4gh:VA.fE2SOWvnMUcQ5eFN6PJhtU0RudBl_Ecv,ga4gh:VA.L89oJlKW-gvRXUlWWwyGt7pqhJ0R7fuF;VRS_Starts=5030879,5030879;VRS_Ends=5030880,5030880;VRS_States=A,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1173A>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1173A>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1173A>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1173A>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1173A>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1173A>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1173A>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1173A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1173A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030882	.	C	T	.	AC0	AC=0;AN=79356;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=41270;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=38086;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5494;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4478;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9972;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=318;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=328;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=646;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4052;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5136;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9188;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1158;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1014;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2172;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=390;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=500;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=890;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1674;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4956;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6630;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=82;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=180;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26960;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19360;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46320;nhomalt_nfe=0;AC_raw=2;AF_raw=1.75784e-05;AN_raw=113776;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=502;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=506;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1008;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=624;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1726;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2350;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=4.09862;MQ=35.4390;MQRankSum=0.804000;QUALapprox=205;QD=8.20000;ReadPosRankSum=0.804000;SOR=0.952000;VarDP=25;AS_FS=5.65143;AS_MQ=35.6890;AS_MQRankSum=0.804000;AS_pab_max=1.00000;AS_QUALapprox=90;AS_QD=5.62500;AS_ReadPosRankSum=0.804000;AS_SB_TABLE=11,6|1,3;AS_SOR=1.46794;AS_VarDP=16;inbreeding_coeff=-1.75787e-05;AS_culprit=AS_MQ;AS_VQSLOD=-2.10700;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25701|8339|3573|1250|432|207|91|33|24|17|6|3|1|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9297|15090|8922|4803|1456|89|13|6|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0176550;cadd_phred=1.22900;phylop=-0.203000;VRS_Allele_IDs=ga4gh:VA.DIsj6vqkIFeVQQ9rhEu17qobxYCjFEzC,ga4gh:VA.8zSVzDtrTqBOsFfKwuqCPRdUSOl4GRN9;VRS_Starts=5030881,5030881;VRS_Ends=5030882,5030882;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1171C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1171C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1171C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1171C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1171C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1171C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1171C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1171C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1171C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030883	.	A	G	.	AC0	AC=0;AN=79600;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=41372;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=38228;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5516;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4506;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=10022;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=318;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=330;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=648;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4078;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5164;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9242;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1160;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1020;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2180;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=398;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=488;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=886;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1672;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5064;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6736;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=84;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=182;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27004;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19334;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46338;nhomalt_nfe=0;AC_raw=1;AF_raw=8.71004e-06;AN_raw=114810;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=504;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=508;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1012;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=624;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1730;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2354;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=2.07672;MQ=33.5294;MQRankSum=0.736000;QUALapprox=203;QD=11.2778;ReadPosRankSum=0.736000;SOR=1.20600;VarDP=18;AS_FS=0.00000;AS_MQ=36.3570;AS_MQRankSum=0.727000;AS_pab_max=0.625000;AS_QUALapprox=87;AS_QD=7.25000;AS_ReadPosRankSum=0.727000;AS_SB_TABLE=7,5|2,1;AS_SOR=0.817851;AS_VarDP=12;inbreeding_coeff=-8.71012e-06;AS_culprit=AS_MQ;AS_VQSLOD=-2.18240;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25719|8370|3616|1277|434|206|93|33|24|17|6|3|1|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9386|15116|8931|4802|1456|88|13|6|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.106324;cadd_phred=2.14800;phylop=-0.361000;VRS_Allele_IDs=ga4gh:VA.tlo3qRcNzLHaIfQ48dHVkrHnRXT3VgPC,ga4gh:VA.pYJ_ZH7PV3qFI4wjOgsM7wV3wkk6QeMo;VRS_Starts=5030882,5030882;VRS_Ends=5030883,5030883;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1170A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1170A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1170A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1170A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1170A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1170A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1170A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1170A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1170A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030883	.	A	T	.	AC0;AS_VQSR	AC=0;AN=79600;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=41372;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=38228;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5516;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4506;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=10022;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=318;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=330;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=648;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4078;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5164;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9242;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1160;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1020;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2180;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=398;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=488;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=886;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1672;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5064;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6736;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=84;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=182;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27004;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19334;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46338;nhomalt_nfe=0;AC_raw=1;AF_raw=8.71004e-06;AN_raw=114810;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=504;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=508;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1012;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=624;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1730;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2354;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=2.07672;MQ=33.5294;MQRankSum=0.736000;QUALapprox=203;QD=11.2778;ReadPosRankSum=0.736000;SOR=1.20600;VarDP=18;AS_FS=6.98970;AS_MQ=27.0000;AS_MQRankSum=0.804000;AS_pab_max=1.00000;AS_QUALapprox=116;AS_QD=19.3333;AS_ReadPosRankSum=0.804000;AS_SB_TABLE=7,5|0,3;AS_SOR=2.80714;AS_VarDP=6;inbreeding_coeff=-8.71012e-06;AS_culprit=AS_SOR;AS_VQSLOD=-6.68570;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25719|8370|3616|1277|434|206|93|33|24|17|6|3|1|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9386|15116|8931|4802|1456|88|13|6|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0631700;cadd_phred=1.78100;phylop=-0.361000;VRS_Allele_IDs=ga4gh:VA.tlo3qRcNzLHaIfQ48dHVkrHnRXT3VgPC,ga4gh:VA.3Y8VwuZDhfVeKkIY5ndihNfeeDLV1pyn;VRS_Starts=5030882,5030882;VRS_Ends=5030883,5030883;VRS_States=A,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1170A>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1170A>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1170A>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1170A>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1170A>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1170A>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1170A>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1170A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1170A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030884	.	G	A	.	AC0	AC=0;AN=79254;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=41194;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=38060;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5470;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4456;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9926;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=312;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=328;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=640;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4050;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5136;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9186;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1164;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1016;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2180;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=396;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=492;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=888;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1658;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4990;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6648;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=82;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=180;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26926;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19330;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46256;nhomalt_nfe=0;AC_raw=4;AF_raw=3.48487e-05;AN_raw=114782;nhomalt_raw=2;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=500;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=504;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1004;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=620;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1726;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2346;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=9.75641;MQ=34.1192;MQRankSum=1.29600;QUALapprox=112;QD=7.00000;ReadPosRankSum=0.736000;SOR=1.86400;VarDP=16;AS_FS=9.75641;AS_MQ=34.1192;AS_MQRankSum=1.29600;AS_pab_max=1.00000;AS_QUALapprox=112;AS_QD=7.00000;AS_ReadPosRankSum=0.736000;AS_SB_TABLE=8,3|1,4;AS_SOR=1.86370;AS_VarDP=16;inbreeding_coeff=1.00000;AS_culprit=AS_MQ;AS_VQSLOD=-2.42800;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25652|8309|3585|1269|430|206|90|34|24|17|6|3|1|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9309|15043|8910|4799|1457|88|13|6|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0250980;cadd_phred=1.18600;phylop=-0.214000;VRS_Allele_IDs=ga4gh:VA.aOhxU4FfFrw2MaTJTDHhIN-sIJuX74UX,ga4gh:VA.gOEgMVQ4oWEo7ZtkefphBZ-q9oPIlRFJ;VRS_Starts=5030883,5030883;VRS_Ends=5030884,5030884;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1169G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1169G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1169G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1169G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1169G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1169G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1169G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1169G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1169G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030885	.	A	G	.	AC0;AS_VQSR	AC=0;AN=79134;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=41188;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=37946;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5458;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4430;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9888;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=318;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=330;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=648;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4050;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5116;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9166;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1156;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1016;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2172;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=394;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=492;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=886;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1642;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4944;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6586;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=84;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=182;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26944;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19318;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46262;nhomalt_nfe=0;AC_raw=9;AF_raw=7.79599e-05;AN_raw=115444;nhomalt_raw=3;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=506;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=494;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1000;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=622;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1722;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2344;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=25.5273;MQ=31.4255;MQRankSum=0.736000;QUALapprox=385;QD=12.0313;ReadPosRankSum=0.736000;SOR=3.75300;VarDP=32;AS_FS=24.7066;AS_MQ=31.8482;AS_MQRankSum=0.736000;AS_pab_max=1.00000;AS_QUALapprox=349;AS_QD=12.0345;AS_ReadPosRankSum=0.736000;AS_SB_TABLE=12,7|1,11;AS_SOR=3.59398;AS_VarDP=29;inbreeding_coeff=0.666641;AS_culprit=AS_SOR;AS_VQSLOD=-6.03590;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25599|8323|3570|1257|432|210|90|34|24|17|6|3|1|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9289|15023|8896|4794|1456|88|13|6|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.103511;cadd_phred=2.12300;phylop=-0.273000;VRS_Allele_IDs=ga4gh:VA.uyuEot2yDuNM3J5QVqA_6phzbASEyoa2,ga4gh:VA.xTGdmatgpy3c6uQeA6LOGps__6WOYSeL;VRS_Starts=5030884,5030884;VRS_Ends=5030885,5030885;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1168A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1168A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1168A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1168A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1168A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1168A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1168A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1168A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1168A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030887	.	C	A	.	AC0;AS_VQSR	AC=0;AN=79056;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=41154;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=37902;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5462;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4438;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9900;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=314;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=328;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=642;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4026;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5120;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9146;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1152;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1016;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2168;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=398;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=488;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=886;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1664;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4970;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6634;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=80;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=178;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26912;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19238;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46150;nhomalt_nfe=0;AC_raw=1;AF_raw=8.56267e-06;AN_raw=116786;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=506;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=498;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1004;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=622;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1726;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2348;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=20.4336;MQ=27.8817;MQRankSum=0.804000;QUALapprox=242;QD=14.2353;ReadPosRankSum=0.804000;SOR=3.89600;VarDP=17;AS_FS=15.9106;AS_MQ=28.2135;AS_MQRankSum=0.804000;AS_pab_max=1.00000;AS_QUALapprox=168;AS_QD=14.0000;AS_ReadPosRankSum=0.804000;AS_SB_TABLE=8,3|0,4;AS_SOR=3.22675;AS_VarDP=12;inbreeding_coeff=-8.56274e-06;AS_culprit=AS_SOR;AS_VQSLOD=-6.31650;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25596|8294|3545|1274|435|208|91|33|24|17|6|3|1|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9347|14963|8868|4787|1455|87|13|6|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.110473;cadd_phred=2.18600;phylop=0.565000;VRS_Allele_IDs=ga4gh:VA.cr2EtzVT7Da0yK5Rqi8dedKNHL9fabQy,ga4gh:VA.u-fA5O3gFSwzq7Y8pa4FNwDGC_7Q-DzU;VRS_Starts=5030886,5030886;VRS_Ends=5030887,5030887;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1166C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1166C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1166C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1166C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1166C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1166C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1166C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1166C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1166C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030887	.	C	T	.	AC0;AS_VQSR	AC=0;AN=79056;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=41154;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=37902;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5462;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4438;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9900;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=314;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=328;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=642;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4026;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5120;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9146;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1152;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1016;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2168;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=398;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=488;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=886;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1664;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4970;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6634;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=80;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=178;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26912;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19238;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46150;nhomalt_nfe=0;AC_raw=3;AF_raw=2.56880e-05;AN_raw=116786;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=506;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=498;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1004;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=622;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1726;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2348;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=20.4336;MQ=27.8817;MQRankSum=0.804000;QUALapprox=242;QD=14.2353;ReadPosRankSum=0.804000;SOR=3.89600;VarDP=17;AS_FS=8.92095;AS_MQ=27.0000;AS_MQRankSum=0.727000;AS_pab_max=0.625000;AS_QUALapprox=74;AS_QD=14.8000;AS_ReadPosRankSum=0.727000;AS_SB_TABLE=8,3|0,2;AS_SOR=2.21894;AS_VarDP=5;inbreeding_coeff=0.666658;AS_culprit=AS_SOR;AS_VQSLOD=-4.57570;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25596|8294|3545|1274|435|208|91|33|24|17|6|3|1|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9347|14963|8868|4787|1455|87|13|6|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.169997;cadd_phred=2.78900;phylop=0.565000;VRS_Allele_IDs=ga4gh:VA.cr2EtzVT7Da0yK5Rqi8dedKNHL9fabQy,ga4gh:VA.mwV9l_M_Dn95ub7LRQ-bL9jsVKw4lqm3;VRS_Starts=5030886,5030886;VRS_Ends=5030887,5030887;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1166C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1166C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1166C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1166C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1166C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1166C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1166C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1166C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1166C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030889	.	A	C	.	AC0;AS_VQSR	AC=0;AN=79194;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=41142;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=38052;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5480;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4452;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9932;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=316;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=324;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=640;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4048;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5156;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9204;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1154;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1012;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2166;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=396;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=484;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=880;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1654;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5036;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6690;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=84;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=182;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26872;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19272;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46144;nhomalt_nfe=0;AC_raw=1;AF_raw=8.44138e-06;AN_raw=118464;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=506;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=502;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1008;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=618;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1730;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2348;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=27.0000;MQRankSum=0.804000;QUALapprox=94;QD=13.4286;ReadPosRankSum=0.804000;SOR=0.148000;VarDP=7;AS_FS=0.00000;AS_MQ=27.0000;AS_MQRankSum=0.804000;AS_pab_max=1.00000;AS_QUALapprox=94;AS_QD=13.4286;AS_ReadPosRankSum=0.804000;AS_SB_TABLE=1,4|1,1;AS_SOR=0.148420;AS_VarDP=7;inbreeding_coeff=-8.44145e-06;AS_culprit=AS_MQ;AS_VQSLOD=-4.58040;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25557|8297|3611|1291|448|215|93|33|24|17|6|3|1|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9404|14985|8857|4787|1457|86|13|6|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.266134;cadd_phred=3.89300;phylop=0.443000;VRS_Allele_IDs=ga4gh:VA.jxkvO0PE9AdyJZAFPsq8qBMf2WF1HUh8,ga4gh:VA.Q7tCQImoqj2UbbybRgKlBwRaCRcfvP4p;VRS_Starts=5030888,5030888;VRS_Ends=5030889,5030889;VRS_States=A,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1164A>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1164A>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1164A>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1164A>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1164A>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1164A>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1164A>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1164A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1164A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030890	.	T	G	.	AC0;AS_VQSR	AC=0;AN=77900;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=40594;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=37306;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5342;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4332;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9674;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=312;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=318;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=630;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3972;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5024;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8996;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1148;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1010;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2158;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=380;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=482;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=862;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1644;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4842;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6486;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=84;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=182;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26594;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19024;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=45618;nhomalt_nfe=0;AC_raw=2;AF_raw=1.69627e-05;AN_raw=117906;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=496;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=488;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=984;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=608;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1702;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2310;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=15.0907;MQ=27.0000;MQRankSum=0.736000;QUALapprox=220;QD=15.7143;ReadPosRankSum=0.736000;SOR=3.90100;VarDP=14;AS_FS=10.9255;AS_MQ=27.0000;AS_MQRankSum=0.804000;AS_pab_max=1.00000;AS_QUALapprox=143;AS_QD=15.8889;AS_ReadPosRankSum=0.804000;AS_SB_TABLE=5,3|0,4;AS_SOR=3.23650;AS_VarDP=9;inbreeding_coeff=1.00000;AS_culprit=AS_SOR;AS_VQSLOD=-7.36930;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25262|8108|3506|1242|439|220|88|34|23|17|6|3|1|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9048|14753|8815|4774|1453|86|13|6|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0524580;cadd_phred=1.69900;phylop=-0.271000;VRS_Allele_IDs=ga4gh:VA.FgbulQi38aqOJpMj4YF3-9smFX2jhXrE,ga4gh:VA.lF8OaiY7kwwVpUTD-CSdzXDoXA6ADSzY;VRS_Starts=5030889,5030889;VRS_Ends=5030890,5030890;VRS_States=T,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1163T>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1163T>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1163T>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1163T>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1163T>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1163T>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1163T>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1163T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1163T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030892	.	T	G	.	AC0;AS_VQSR	AC=0;AN=78326;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=40790;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=37536;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5400;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4368;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9768;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=314;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=320;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=634;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4008;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5084;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9092;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1142;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1012;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2154;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=384;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=486;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=870;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1646;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4868;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6514;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=80;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=178;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26692;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19124;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=45816;nhomalt_nfe=0;AC_raw=2;AF_raw=1.67451e-05;AN_raw=119438;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=504;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=498;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1002;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=602;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1696;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2298;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;MQ=32.8238;MQRankSum=0.804000;QUALapprox=83;QD=27.6667;ReadPosRankSum=0.804000;SOR=2.22500;VarDP=3;AS_MQ=32.8238;AS_MQRankSum=0.804000;AS_pab_max=1.00000;AS_QUALapprox=83;AS_QD=27.6667;AS_ReadPosRankSum=0.804000;AS_SB_TABLE=1,0|0,2;AS_SOR=2.22462;AS_VarDP=3;inbreeding_coeff=1.00000;AS_culprit=AS_SOR;AS_VQSLOD=-4.74390;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25311|8156|3577|1273|448|226|86|33|24|18|6|3|1|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9255|14776|8805|4770|1451|85|13|6|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.274435;cadd_phred=3.99100;phylop=0.444000;VRS_Allele_IDs=ga4gh:VA.6OO4KLjCKHxjni-m2EofJJhbMgMk5aRm,ga4gh:VA.gwzbqjHhJzDUvrqpxVoLuOUcc8SXBHpi;VRS_Starts=5030891,5030891;VRS_Ends=5030892,5030892;VRS_States=T,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1161T>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1161T>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1161T>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1161T>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1161T>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1161T>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1161T>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1161T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1161T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030896	rs1271953682	G	A	.	AS_VQSR	AC=291;AN=69590;AF=0.00418164;grpmax=eas;fafmax_faf95_max=0.00614473;fafmax_faf95_max_gen_anc=afr;AC_XX=138;AF_XX=0.00382293;AN_XX=36098;nhomalt_XX=7;AC_XY=153;AF_XY=0.00456826;AN_XY=33492;nhomalt_XY=5;nhomalt=12;AC_afr_XX=37;AF_afr_XX=0.00807508;AN_afr_XX=4582;nhomalt_afr_XX=0;AC_afr_XY=27;AF_afr_XY=0.00712777;AN_afr_XY=3788;nhomalt_afr_XY=1;AC_afr=64;AF_afr=0.00764636;AN_afr=8370;nhomalt_afr=1;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=280;nhomalt_ami_XX=0;AC_ami_XY=1;AF_ami_XY=0.00342466;AN_ami_XY=292;nhomalt_ami_XY=0;AC_ami=1;AF_ami=0.00174825;AN_ami=572;nhomalt_ami=0;AC_amr_XX=13;AF_amr_XX=0.00369318;AN_amr_XX=3520;nhomalt_amr_XX=0;AC_amr_XY=26;AF_amr_XY=0.00578807;AN_amr_XY=4492;nhomalt_amr_XY=1;AC_amr=39;AF_amr=0.00486770;AN_amr=8012;nhomalt_amr=1;AC_asj_XX=3;AF_asj_XX=0.00298211;AN_asj_XX=1006;nhomalt_asj_XX=0;AC_asj_XY=3;AF_asj_XY=0.00334076;AN_asj_XY=898;nhomalt_asj_XY=0;AC_asj=6;AF_asj=0.00315126;AN_asj=1904;nhomalt_asj=0;AC_eas_XX=7;AF_eas_XX=0.0200000;AN_eas_XX=350;nhomalt_eas_XX=1;AC_eas_XY=1;AF_eas_XY=0.00242718;AN_eas_XY=412;nhomalt_eas_XY=0;AC_eas=8;AF_eas=0.0104987;AN_eas=762;nhomalt_eas=1;AC_fin_XX=9;AF_fin_XX=0.00610583;AN_fin_XX=1474;nhomalt_fin_XX=0;AC_fin_XY=29;AF_fin_XY=0.00650808;AN_fin_XY=4456;nhomalt_fin_XY=0;AC_fin=38;AF_fin=0.00640809;AN_fin=5930;nhomalt_fin=0;AC_mid_XX=1;AF_mid_XX=0.0151515;AN_mid_XX=66;nhomalt_mid_XX=0;AC_mid_XY=1;AF_mid_XY=0.0178571;AN_mid_XY=56;nhomalt_mid_XY=0;AC_mid=2;AF_mid=0.0163934;AN_mid=122;nhomalt_mid=0;AC_nfe_XX=68;AF_nfe_XX=0.00285187;AN_nfe_XX=23844;nhomalt_nfe_XX=6;AC_nfe_XY=59;AF_nfe_XY=0.00344264;AN_nfe_XY=17138;nhomalt_nfe_XY=3;AC_nfe=127;AF_nfe=0.00309892;AN_nfe=40982;nhomalt_nfe=9;AC_raw=8401;AF_raw=0.0770508;AN_raw=109032;nhomalt_raw=3019;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=434;nhomalt_remaining_XX=0;AC_remaining_XY=1;AF_remaining_XY=0.00228311;AN_remaining_XY=438;nhomalt_remaining_XY=0;AC_remaining=1;AF_remaining=0.00114679;AN_remaining=872;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=542;nhomalt_sas_XX=0;AC_sas_XY=5;AF_sas_XY=0.00328515;AN_sas_XY=1522;nhomalt_sas_XY=0;AC_sas=5;AF_sas=0.00242248;AN_sas=2064;nhomalt_sas=0;AC_grpmax=8;AF_grpmax=0.0104987;AN_grpmax=762;nhomalt_grpmax=1;faf95=0.00378601;faf95_afr=0.00614473;faf95_amr=0.00366007;faf95_eas=0.00522322;faf95_nfe=0.00266053;faf95_sas=0.000953790;faf99=0.00363188;faf99_afr=0.00559944;faf99_amr=0.00323877;faf99_eas=0.00381293;faf99_nfe=0.00249525;faf99_sas=0.000619680;fafmax_faf99_max=0.00559944;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=9|5|6|16|15|14|11|5|3|5;age_hist_het_n_smaller=12;age_hist_het_n_larger=4;age_hist_hom_bin_freq=0|1|0|0|1|1|0|0|0|0;age_hist_hom_n_smaller=2;age_hist_hom_n_larger=1;FS=74.1596;MQ=31.7911;MQRankSum=-0.727000;QUALapprox=857592;QD=13.9301;ReadPosRankSum=-0.406000;SOR=3.84200;VarDP=61564;AS_FS=74.1596;AS_MQ=31.7892;AS_MQRankSum=-0.727000;AS_pab_max=1.00000;AS_QUALapprox=857539;AS_QD=13.9326;AS_ReadPosRankSum=-0.391000;AS_SB_TABLE=16357,13577|28167,3459;AS_SOR=3.84297;AS_VarDP=61549;inbreeding_coeff=0.695242;AS_culprit=AS_FS;AS_VQSLOD=-6.39450;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|4|51|5|9|1|48|47|18|15|8|9|9|7|12|34;gq_hist_all_bin_freq=0|0|0|0|23013|7007|2908|969|372|156|120|81|40|29|13|12|10|7|13|34;dp_hist_alt_bin_freq=0|0|181|61|23|4|6|1|0|0|1|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|7853|12455|8260|4669|1442|85|11|6|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|154|61|22|5|6|4|4|2|5|1|0|0|1|0|0|0;cadd_raw_score=0.154851;cadd_phred=2.62600;phylop=-0.204000;VRS_Allele_IDs=ga4gh:VA.AT3hyp7qh8HKpEhaO6YvuG-LuGAkxVPi,ga4gh:VA.A6XcWVCuaNlobjMS6Pra9CjfyK7SgeUw;VRS_Starts=5030895,5030895;VRS_Ends=5030896,5030896;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1157G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1157G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1157G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1157G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1157G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1157G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1157G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1157G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1157G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030897	.	A	G	.	AC0	AC=0;AN=78702;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=40924;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=37778;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5484;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4470;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9954;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=316;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=318;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=634;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4022;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5086;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9108;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1140;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1020;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2160;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=400;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=498;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=898;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1644;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4974;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6618;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=84;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=182;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26706;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19124;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=45830;nhomalt_nfe=0;AC_raw=4;AF_raw=3.26073e-05;AN_raw=122672;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=500;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=500;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1000;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=614;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1704;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2318;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=17.7882;MQ=33.1527;MQRankSum=0.804000;QUALapprox=175;QD=8.75000;ReadPosRankSum=0.804000;SOR=2.51600;VarDP=20;AS_FS=13.8973;AS_MQ=33.7672;AS_MQRankSum=1.18200;AS_pab_max=1.00000;AS_QUALapprox=147;AS_QD=8.16667;AS_ReadPosRankSum=1.61100;AS_SB_TABLE=10,3|1,5;AS_SOR=2.21181;AS_VarDP=18;inbreeding_coeff=0.499984;AS_culprit=AS_SOR;AS_VQSLOD=-2.31850;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25184|8174|3688|1367|517|244|93|35|23|13|7|3|2|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9922|14476|8649|4748|1451|86|11|6|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.298850;cadd_phred=4.27600;phylop=0.443000;VRS_Allele_IDs=ga4gh:VA.8okHtc7kQCH0fbhO4uubDg5oyPo0dZjC,ga4gh:VA.k2kx-aM7lwm2uKaJ1d5PVsN08xxIj4jC;VRS_Starts=5030896,5030896;VRS_Ends=5030897,5030897;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1156A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1156A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1156A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1156A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1156A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1156A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1156A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1156A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1156A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030898	.	G	A	.	AC0;AS_VQSR	AC=0;AN=78620;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=40926;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=37694;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5522;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4456;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9978;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=314;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=322;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=636;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4012;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5070;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9082;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1148;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1016;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2164;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=392;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=496;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=888;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1624;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4946;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6570;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=84;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=182;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26706;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19116;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=45822;nhomalt_nfe=0;AC_raw=1;AF_raw=8.13193e-06;AN_raw=122972;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=500;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=496;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=996;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=610;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1692;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2302;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=14.2107;MQ=32.5867;MQRankSum=0.804000;QUALapprox=181;QD=9.52632;ReadPosRankSum=0.804000;SOR=1.85000;VarDP=19;AS_FS=3.46787;AS_MQ=33.6353;AS_MQRankSum=0.804000;AS_pab_max=1.00000;AS_QUALapprox=79;AS_QD=26.3333;AS_ReadPosRankSum=0.804000;AS_SB_TABLE=11,3|1,1;AS_SOR=0.105361;AS_VarDP=3;inbreeding_coeff=-8.13200e-06;AS_culprit=AS_MQ;AS_VQSLOD=-4.46020;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25196|8163|3663|1350|520|243|92|34|23|13|7|3|2|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9915|14460|8634|4745|1451|86|11|6|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.00624000;cadd_phred=1.29700;phylop=-1.66800;VRS_Allele_IDs=ga4gh:VA.0BvgWTh5GTftrtvEhWxFcIBKgd1escHy,ga4gh:VA.ia7zgzTfqvXAb1n99IqHnbjZ5bUrc837;VRS_Starts=5030897,5030897;VRS_Ends=5030898,5030898;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1155G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1155G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1155G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1155G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1155G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1155G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1155G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1155G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1155G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030898	.	G	C	.	AC0;AS_VQSR	AC=0;AN=78620;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=40926;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=37694;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5522;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4456;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9978;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=314;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=322;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=636;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4012;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5070;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9082;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1148;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1016;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2164;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=392;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=496;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=888;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1624;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4946;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6570;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=84;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=182;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26706;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19116;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=45822;nhomalt_nfe=0;AC_raw=2;AF_raw=1.62639e-05;AN_raw=122972;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=500;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=496;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=996;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=610;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1692;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2302;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=14.2107;MQ=32.5867;MQRankSum=0.804000;QUALapprox=181;QD=9.52632;ReadPosRankSum=0.804000;SOR=1.85000;VarDP=19;AS_FS=15.3148;AS_MQ=33.0843;AS_MQRankSum=0.751000;AS_pab_max=1.00000;AS_QUALapprox=79;AS_QD=5.64286;AS_ReadPosRankSum=0.736000;AS_SB_TABLE=11,3|0,3;AS_SOR=2.77951;AS_VarDP=14;inbreeding_coeff=-1.62641e-05;AS_culprit=AS_SOR;AS_VQSLOD=-3.64540;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25196|8163|3663|1350|520|243|92|34|23|13|7|3|2|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9915|14460|8634|4745|1451|86|11|6|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0429350;cadd_phred=1.08900;phylop=-1.66800;VRS_Allele_IDs=ga4gh:VA.0BvgWTh5GTftrtvEhWxFcIBKgd1escHy,ga4gh:VA.Wxr6y8hgqEmV69A7HuserEzN6xoUi2N1;VRS_Starts=5030897,5030897;VRS_Ends=5030898,5030898;VRS_States=G,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1155G>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1155G>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1155G>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1155G>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1155G>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1155G>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1155G>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1155G>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1155G>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030899	.	A	C	.	AC0;AS_VQSR	AC=0;AN=78246;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=40720;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=37526;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5472;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4442;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9914;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=314;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=314;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=628;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3996;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5032;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9028;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1136;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1012;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2148;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=394;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=490;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=884;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1622;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4946;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6568;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=96;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=82;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=178;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26590;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19028;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=45618;nhomalt_nfe=0;AC_raw=8;AF_raw=6.50058e-05;AN_raw=123066;nhomalt_raw=3;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=492;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=498;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=990;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=608;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1682;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2290;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=4.82164e-16;MQ=37.7066;MQRankSum=0.00000;QUALapprox=348;QD=8.09302;ReadPosRankSum=0.804000;SOR=0.892000;VarDP=43;AS_FS=1.93859;AS_MQ=29.6142;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=254;AS_QD=25.4000;AS_ReadPosRankSum=-0.674000;AS_SB_TABLE=11,19|1,5;AS_SOR=1.44456;AS_VarDP=10;inbreeding_coeff=0.749984;AS_culprit=AS_MQ;AS_VQSLOD=-4.71120;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25119|8110|3631|1342|511|242|88|33|21|13|7|3|2|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9831|14382|8619|4737|1449|86|11|6|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.275015;cadd_phred=3.99700;phylop=0.443000;VRS_Allele_IDs=ga4gh:VA.La4l6bwTns8I_4JjNlqwoKo2dw5RXPGV,ga4gh:VA.52Sz9UxDzBPdop93ow6wC2wz91H8-yWl;VRS_Starts=5030898,5030898;VRS_Ends=5030899,5030899;VRS_States=A,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1154A>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1154A>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1154A>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1154A>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1154A>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1154A>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1154A>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1154A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1154A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030900	rs1212611940	T	A	.	AS_VQSR	AC=1;AN=77458;AF=1.29102e-05;grpmax=nfe;AC_XX=1;AF_XX=2.47967e-05;AN_XX=40328;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=37130;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5370;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4390;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9760;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=304;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=314;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=618;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3966;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5028;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8994;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1142;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1008;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2150;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=386;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=490;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=876;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1600;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4804;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6404;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=88;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=80;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=168;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=3.78989e-05;AN_nfe_XX=26386;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18854;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=2.21043e-05;AN_nfe=45240;nhomalt_nfe=0;AC_raw=29;AF_raw=0.000235876;AN_raw=122946;nhomalt_raw=7;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=488;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=502;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=990;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=598;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1660;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2258;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=2.21043e-05;AN_grpmax=45240;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=82.7672;MQ=33.5332;MQRankSum=-0.639000;QUALapprox=4784;QD=12.3618;ReadPosRankSum=0.0370000;SOR=1.87400;VarDP=387;AS_FS=83.4742;AS_MQ=33.4507;AS_MQRankSum=-0.727000;AS_pab_max=1.00000;AS_QUALapprox=4295;AS_QD=12.5219;AS_ReadPosRankSum=-0.298000;AS_SB_TABLE=152,102|32,86;AS_SOR=2.00197;AS_VarDP=343;inbreeding_coeff=0.482637;AS_culprit=AS_FS;AS_VQSLOD=-9.96920;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|24966|8014|3543|1305|486|232|86|33|20|13|7|3|2|0|1|1;dp_hist_alt_bin_freq=0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9637|14234|8564|4728|1445|85|11|6|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0859390;cadd_phred=1.96800;phylop=-0.383000;VRS_Allele_IDs=ga4gh:VA.t55JWFEjY9BqIcX7aDqqzcZwHgLRtxHe,ga4gh:VA.OPa5hUro6Ck47wKjUIh1kS561VATQyvV;VRS_Starts=5030899,5030899;VRS_Ends=5030900,5030900;VRS_States=T,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1153T>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1153T>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1153T>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1153T>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1153T>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1153T>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1153T>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1153T>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1153T>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030900	.	T	C	.	AC0;AS_VQSR	AC=0;AN=77438;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=40336;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=37102;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5364;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4370;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9734;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=304;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=314;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=618;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3960;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5022;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8982;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1142;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1008;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2150;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=386;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=490;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=876;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1600;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4804;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6404;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=94;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=82;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=176;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26396;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18860;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=45256;nhomalt_nfe=0;AC_raw=3;AF_raw=2.44077e-05;AN_raw=122912;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=482;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=496;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=978;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=608;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1656;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2264;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=82.7672;MQ=33.5332;MQRankSum=-0.639000;QUALapprox=4784;QD=12.3618;ReadPosRankSum=0.0370000;SOR=1.87400;VarDP=387;AS_FS=5.12538;AS_MQ=32.2128;AS_MQRankSum=0.804000;AS_pab_max=1.00000;AS_QUALapprox=188;AS_QD=12.5333;AS_ReadPosRankSum=0.804000;AS_SB_TABLE=152,102|1,3;AS_SOR=1.49362;AS_VarDP=15;inbreeding_coeff=0.666659;AS_culprit=AS_MQ;AS_VQSLOD=-2.86870;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|24966|8014|3544|1305|488|233|86|34|20|13|7|3|3|0|1|2;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9640|14237|8565|4728|1445|85|11|6|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.134353;cadd_phred=2.41600;phylop=-0.383000;VRS_Allele_IDs=ga4gh:VA.t55JWFEjY9BqIcX7aDqqzcZwHgLRtxHe,ga4gh:VA.pic-ZdSaWf5dHmoGhLrzhFlMpAkapFkT;VRS_Starts=5030899,5030899;VRS_Ends=5030900,5030900;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1153T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1153T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1153T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1153T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1153T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1153T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1153T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1153T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1153T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030900	.	T	G	.	AC0	AC=0;AN=77438;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=40336;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=37102;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5364;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4370;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9734;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=304;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=314;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=618;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3960;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5022;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8982;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1142;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1008;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2150;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=386;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=490;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=876;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1600;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4804;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6404;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=94;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=82;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=176;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26396;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18860;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=45256;nhomalt_nfe=0;AC_raw=4;AF_raw=3.25436e-05;AN_raw=122912;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=482;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=496;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=978;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=608;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1656;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2264;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=82.7672;MQ=33.5332;MQRankSum=-0.639000;QUALapprox=4784;QD=12.3618;ReadPosRankSum=0.0370000;SOR=1.87400;VarDP=387;AS_FS=4.39406;AS_MQ=35.1303;AS_MQRankSum=0.804000;AS_pab_max=1.00000;AS_QUALapprox=301;AS_QD=10.3793;AS_ReadPosRankSum=0.804000;AS_SB_TABLE=152,102|5,6;AS_SOR=0.595707;AS_VarDP=29;inbreeding_coeff=-3.25447e-05;AS_culprit=AS_MQ;AS_VQSLOD=-2.43620;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|24966|8014|3544|1305|488|233|86|34|20|13|7|3|3|0|1|2;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9640|14237|8565|4728|1445|85|11|6|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.102948;cadd_phred=2.11800;phylop=-0.383000;VRS_Allele_IDs=ga4gh:VA.t55JWFEjY9BqIcX7aDqqzcZwHgLRtxHe,ga4gh:VA.Bn10CGiprdRAcJDE08mbuYiEAH9mIVpF;VRS_Starts=5030899,5030899;VRS_Ends=5030900,5030900;VRS_States=T,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1153T>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1153T>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1153T>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1153T>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1153T>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1153T>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1153T>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1153T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1153T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030902	.	T	C	.	AC0	AC=0;AN=78240;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=40754;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=37486;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5500;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4442;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9942;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=314;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=314;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=628;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3994;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5020;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9014;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1140;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1016;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2156;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=400;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=496;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=896;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1626;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4896;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6522;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=84;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=182;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26576;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19044;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=45620;nhomalt_nfe=0;AC_raw=6;AF_raw=4.81047e-05;AN_raw=124728;nhomalt_raw=2;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=488;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=502;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=990;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=618;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1672;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2290;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=8.39242;MQ=35.7211;MQRankSum=0.804000;QUALapprox=387;QD=21.5000;ReadPosRankSum=0.804000;SOR=2.24500;VarDP=18;AS_FS=5.02124;AS_MQ=37.6747;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=257;AS_QD=19.7692;AS_ReadPosRankSum=1.38000;AS_SB_TABLE=5,3|2,5;AS_SOR=1.49165;AS_VarDP=13;inbreeding_coeff=0.666651;AS_culprit=AS_MQ;AS_VQSLOD=-2.19530;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25110|8118|3667|1313|507|239|87|33|20|13|7|3|2|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9966|14318|8559|4731|1442|85|11|6|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.134146;cadd_phred=2.41400;phylop=0.444000;VRS_Allele_IDs=ga4gh:VA.uMRBtCFylD2ouvUOI8Y9bziBPXyjGWnV,ga4gh:VA.3Qkyj3-wDUh1VKUslfTjndVLGykicUdS;VRS_Starts=5030901,5030901;VRS_Ends=5030902,5030902;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1151T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1151T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1151T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1151T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1151T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1151T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1151T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1151T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1151T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030902	.	T	G	.	AC0;AS_VQSR	AC=0;AN=78240;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=40754;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=37486;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5500;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4442;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9942;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=314;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=314;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=628;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3994;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5020;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9014;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1140;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1016;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2156;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=400;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=496;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=896;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1626;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4896;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6522;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=84;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=182;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26576;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19044;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=45620;nhomalt_nfe=0;AC_raw=2;AF_raw=1.60349e-05;AN_raw=124728;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=488;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=502;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=990;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=618;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1672;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2290;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=8.39242;MQ=35.7211;MQRankSum=0.804000;QUALapprox=387;QD=21.5000;ReadPosRankSum=0.804000;SOR=2.24500;VarDP=18;AS_FS=7.40363;AS_MQ=30.0533;AS_MQRankSum=0.804000;AS_pab_max=1.00000;AS_QUALapprox=130;AS_QD=26.0000;AS_ReadPosRankSum=0.804000;AS_SB_TABLE=5,3|0,3;AS_SOR=2.79999;AS_VarDP=5;inbreeding_coeff=-1.60351e-05;AS_culprit=AS_SOR;AS_VQSLOD=-6.72710;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25110|8118|3667|1313|507|239|87|33|20|13|7|3|2|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9966|14318|8559|4731|1442|85|11|6|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.102741;cadd_phred=2.11600;phylop=0.444000;VRS_Allele_IDs=ga4gh:VA.uMRBtCFylD2ouvUOI8Y9bziBPXyjGWnV,ga4gh:VA.hvh11nzTL9Z_3pyOLTx67Rcocvmud3Er;VRS_Starts=5030901,5030901;VRS_Ends=5030902,5030902;VRS_States=T,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1151T>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1151T>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1151T>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1151T>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1151T>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1151T>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1151T>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1151T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1151T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030903	.	C	A	.	AC0;AS_VQSR	AC=0;AN=78298;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=40754;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=37544;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5538;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4480;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=10018;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=312;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=320;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=632;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4008;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5040;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9048;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1140;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1016;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2156;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=402;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=498;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=900;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1610;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4942;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6552;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=96;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=84;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=180;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26548;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19000;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=45548;nhomalt_nfe=0;AC_raw=1;AF_raw=7.96584e-06;AN_raw=125536;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=492;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=494;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=986;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=608;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1670;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2278;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=5.31479;MQ=29.0201;MQRankSum=0.804000;QUALapprox=114;QD=6.70588;ReadPosRankSum=0.804000;SOR=1.91900;VarDP=17;AS_FS=2.44712;AS_MQ=30.6653;AS_MQRankSum=0.804000;AS_pab_max=1.00000;AS_QUALapprox=93;AS_QD=9.30000;AS_ReadPosRankSum=0.804000;AS_SB_TABLE=7,5|1,3;AS_SOR=1.51787;AS_VarDP=10;inbreeding_coeff=-7.96591e-06;AS_culprit=AS_MQ;AS_VQSLOD=-3.04660;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25100|8138|3679|1324|502|240|86|34|20|13|7|3|2|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10039|14290|8546|4729|1442|85|11|5|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0659840;cadd_phred=0.976000;phylop=0.565000;VRS_Allele_IDs=ga4gh:VA.FQd6HHUN3x2ZTwDb6MbzTmXyhK86aZZB,ga4gh:VA.OFxj9IMOe615Kd2C2mQjj2TQ40_qHp1t;VRS_Starts=5030902,5030902;VRS_Ends=5030903,5030903;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1150C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1150C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1150C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1150C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1150C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1150C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1150C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1150C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1150C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030904	.	A	C	.	AC0;AS_VQSR	AC=0;AN=78208;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=40746;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=37462;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5546;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4464;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=10010;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=314;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=318;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=632;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4006;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5026;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9032;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1148;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1006;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2154;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=402;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=494;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=896;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1624;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4964;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6588;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=94;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=84;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=178;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26506;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18958;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=45464;nhomalt_nfe=0;AC_raw=3;AF_raw=2.38500e-05;AN_raw=125786;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=490;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=496;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=986;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=616;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1652;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2268;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;MQ=31.9270;MQRankSum=0.804000;QUALapprox=79;QD=26.3333;ReadPosRankSum=0.804000;SOR=1.17900;VarDP=3;AS_MQ=31.9270;AS_MQRankSum=0.804000;AS_pab_max=1.00000;AS_QUALapprox=79;AS_QD=26.3333;AS_ReadPosRankSum=0.804000;AS_SB_TABLE=0,1|0,2;AS_SOR=1.17865;AS_VarDP=3;inbreeding_coeff=0.666659;AS_culprit=AS_MQ;AS_VQSLOD=-3.41590;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25088|8131|3668|1315|496|239|86|34|20|13|7|4|2|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10040|14260|8536|4723|1441|86|11|5|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0982000;cadd_phred=2.07500;phylop=0.443000;VRS_Allele_IDs=ga4gh:VA.j686uGp3I1Ln-FEjGatzkZR47rvdtJSL,ga4gh:VA.gX1FOq8ZKKWCwDW43xQJ832HlaiZeXJf;VRS_Starts=5030903,5030903;VRS_Ends=5030904,5030904;VRS_States=A,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1149A>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1149A>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1149A>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1149A>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1149A>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1149A>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1149A>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1149A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1149A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030905	.	T	C	.	AC0;AS_VQSR	AC=0;AN=77028;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=40200;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=36828;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5420;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4364;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9784;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=312;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=316;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=628;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3952;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4952;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8904;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1134;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1002;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2136;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=400;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=492;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=892;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1592;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4738;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6330;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=94;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=82;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=176;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26208;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18766;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=44974;nhomalt_nfe=0;AC_raw=4;AF_raw=3.20724e-05;AN_raw=124718;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=486;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=478;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=964;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=602;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1638;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2240;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=7.20254;MQ=28.4962;MQRankSum=0.742000;QUALapprox=537;QD=20.6538;ReadPosRankSum=0.736000;SOR=2.44800;VarDP=26;AS_FS=1.92184;AS_MQ=28.3122;AS_MQRankSum=-0.736000;AS_pab_max=1.00000;AS_QUALapprox=321;AS_QD=29.1818;AS_ReadPosRankSum=0.736000;AS_SB_TABLE=5,7|2,6;AS_SOR=1.40180;AS_VarDP=11;inbreeding_coeff=0.499984;AS_culprit=AS_MQ;AS_VQSLOD=-4.41430;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|24899|7952|3539|1251|482|227|83|35|20|14|6|3|2|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9677|14095|8494|4706|1439|85|11|5|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.314266;cadd_phred=4.45400;phylop=-1.11900;VRS_Allele_IDs=ga4gh:VA.ACjOVW8SkBRlDQ6uCCVx2cIk4Yo5huNx,ga4gh:VA.oxYIuA52-yYsHCbSH_QSjLV0xHdR2jk9;VRS_Starts=5030904,5030904;VRS_Ends=5030905,5030905;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1148T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1148T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1148T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1148T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1148T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1148T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1148T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1148T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1148T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030905	.	T	G	.	AC0;AS_VQSR	AC=0;AN=77028;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=40200;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=36828;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5420;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4364;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9784;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=312;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=316;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=628;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3952;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4952;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8904;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1134;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1002;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2136;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=400;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=492;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=892;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1592;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4738;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6330;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=94;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=82;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=176;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26208;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18766;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=44974;nhomalt_nfe=0;AC_raw=2;AF_raw=1.60362e-05;AN_raw=124718;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=486;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=478;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=964;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=602;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1638;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2240;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=7.20254;MQ=28.4962;MQRankSum=0.742000;QUALapprox=537;QD=20.6538;ReadPosRankSum=0.736000;SOR=2.44800;VarDP=26;AS_FS=6.11711;AS_MQ=28.8593;AS_MQRankSum=0.742000;AS_pab_max=1.00000;AS_QUALapprox=152;AS_QD=11.6923;AS_ReadPosRankSum=-0.736000;AS_SB_TABLE=5,7|0,5;AS_SOR=3.05636;AS_VarDP=13;inbreeding_coeff=1.00000;AS_culprit=AS_SOR;AS_VQSLOD=-8.04560;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|24899|7952|3539|1251|482|227|83|35|20|14|6|3|2|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9677|14095|8494|4706|1439|85|11|5|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.282861;cadd_phred=4.08900;phylop=-1.11900;VRS_Allele_IDs=ga4gh:VA.ACjOVW8SkBRlDQ6uCCVx2cIk4Yo5huNx,ga4gh:VA.gcmLVlB-QX8WFn_FSc8KLJyS_vxWiuH0;VRS_Starts=5030904,5030904;VRS_Ends=5030905,5030905;VRS_States=T,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1148T>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1148T>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1148T>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1148T>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1148T>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1148T>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1148T>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1148T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1148T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030909	.	T	G	.	AC0;AS_VQSR	AC=0;AN=77880;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=40560;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=37320;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5578;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4540;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=10118;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=318;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=320;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=638;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3968;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4980;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8948;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1134;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1012;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2146;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=406;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=512;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=918;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1572;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4850;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6422;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=92;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=84;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=176;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26428;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18864;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=45292;nhomalt_nfe=0;AC_raw=5;AF_raw=3.91040e-05;AN_raw=127864;nhomalt_raw=2;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=472;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=496;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=968;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=592;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1662;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2254;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=22.8421;MQ=34.5254;MQRankSum=0.736000;QUALapprox=299;QD=10.3103;ReadPosRankSum=0.804000;SOR=3.01900;VarDP=29;AS_FS=16.2441;AS_MQ=27.0000;AS_MQRankSum=0.804000;AS_pab_max=1.00000;AS_QUALapprox=248;AS_QD=27.5556;AS_ReadPosRankSum=0.804000;AS_SB_TABLE=14,6|1,6;AS_SOR=2.52315;AS_VarDP=9;inbreeding_coeff=0.799992;AS_culprit=AS_SOR;AS_VQSLOD=-6.95930;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25064|8047|3656|1278|507|224|84|34|20|14|6|3|2|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10150|14119|8444|4690|1434|85|11|5|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.253188;cadd_phred=3.74200;phylop=-1.14900;VRS_Allele_IDs=ga4gh:VA.SgfCn2rtuusU5g-qn7bke64eye86OGKo,ga4gh:VA.ZpzoUkYYwugH25K1mG_l4OLOveScbQ3v;VRS_Starts=5030908,5030908;VRS_Ends=5030909,5030909;VRS_States=T,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1144T>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1144T>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1144T>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1144T>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1144T>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1144T>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1144T>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1144T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1144T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030912	rs1987117915	C	A	.	AC0;AS_VQSR	AC=0;AN=73314;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=38444;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=34870;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5260;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4262;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9522;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=288;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=308;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=596;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3748;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4664;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8412;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1102;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=942;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2044;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=400;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=492;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=892;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1254;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4354;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=5608;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=90;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=78;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=168;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=25264;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=17762;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=43026;nhomalt_nfe=0;AC_raw=4;AF_raw=3.18781e-05;AN_raw=125478;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=460;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=462;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=922;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=578;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1546;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2124;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=15.7753;MQ=35.4861;MQRankSum=-0.278000;QUALapprox=39406;QD=5.38113;ReadPosRankSum=0.0960000;SOR=1.71900;VarDP=7323;AS_FS=.;AS_MQ=38.9741;AS_MQRankSum=-0.354000;AS_pab_max=0.726563;AS_QUALapprox=128;AS_QD=2.28571;AS_ReadPosRankSum=-0.354000;AS_SB_TABLE=2744,2436|1,11;AS_SOR=3.60518;AS_VarDP=56;inbreeding_coeff=-3.18791e-05;AS_culprit=AS_SOR;AS_VQSLOD=-11.4645;negative_train_site;allele_type=snv;n_alt_alleles=4;variant_type=mixed;was_mixed;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|23959|7504|3291|1111|420|197|84|37|20|15|7|3|3|3|1|2;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9502|13095|8057|4526|1382|78|10|5|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.577585;cadd_phred=0.0810000;phylop=-1.98400;VRS_Allele_IDs=ga4gh:VA.3wb7WBLQVzxluMCpNd5Qb5V56WvHoqGP,ga4gh:VA._iFJblMhTyYs5Q_0urxxRQS1R3vDsVSz;VRS_Starts=5030911,5030911;VRS_Ends=5030912,5030912;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1141C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1141C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1141C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1141C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1141C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1141C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1141C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1141C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1141C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030912	rs1232130144	C	CA	.	PASS	AC=4;AN=73326;AF=5.45509e-05;grpmax=nfe;fafmax_faf95_max=1.84900e-05;fafmax_faf95_max_gen_anc=nfe;AC_XX=3;AF_XX=7.80559e-05;AN_XX=38434;nhomalt_XX=0;AC_XY=1;AF_XY=2.86599e-05;AN_XY=34892;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5266;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4278;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9544;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=288;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=308;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=596;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3752;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4668;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8420;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1102;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=942;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2044;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=400;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=494;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=894;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1248;nhomalt_fin_XX=0;AC_fin_XY=1;AF_fin_XY=0.000229779;AN_fin_XY=4352;nhomalt_fin_XY=0;AC_fin=1;AF_fin=0.000178571;AN_fin=5600;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=82;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=76;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=158;nhomalt_mid=0;AC_nfe_XX=3;AF_nfe_XX=0.000118784;AN_nfe_XX=25256;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=17760;nhomalt_nfe_XY=0;AC_nfe=3;AF_nfe=6.97415e-05;AN_nfe=43016;nhomalt_nfe=0;AC_raw=27;AF_raw=0.000215112;AN_raw=125516;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=466;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=466;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=932;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=574;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1548;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2122;nhomalt_sas=0;AC_grpmax=3;AF_grpmax=6.97415e-05;AN_grpmax=43016;nhomalt_grpmax=0;faf95=1.77300e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=1.84900e-05;faf95_sas=0.00000;faf99=1.05800e-05;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=1.01300e-05;faf99_sas=0.00000;fafmax_faf99_max=1.01300e-05;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|1|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=15.7753;MQ=35.4861;MQRankSum=-0.278000;QUALapprox=39406;QD=5.38113;ReadPosRankSum=0.0960000;SOR=1.71900;VarDP=7323;AS_FS=0.00000;AS_MQ=37.3822;AS_MQRankSum=-0.572000;AS_pab_max=1.00000;AS_QUALapprox=4265;AS_QD=2.66064;AS_ReadPosRankSum=0.0670000;AS_SB_TABLE=2744,2436|179,150;AS_SOR=0.751415;AS_VarDP=1603;inbreeding_coeff=0.0738749;AS_culprit=AS_QD;AS_VQSLOD=13.1444;negative_train_site;allele_type=ins;n_alt_alleles=4;variant_type=mixed;was_mixed;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|1|0|0|1|0|1|0|1|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|23953|7504|3290|1111|420|197|84|37|20|15|7|3|3|3|1|2;dp_hist_alt_bin_freq=0|0|3|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9497|13093|8057|4526|1382|78|10|5|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|3|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0253400;cadd_phred=1.50200;pangolin_largest_ds=0.00000;phylop=-1.98400;VRS_Allele_IDs=ga4gh:VA.3wb7WBLQVzxluMCpNd5Qb5V56WvHoqGP,ga4gh:VA.qo3uY42Xarq553IKx3HD9tRNBijynzTy;VRS_Starts=5030911,5030912;VRS_Ends=5030912,5030922;VRS_States=C,AAAAAAAAAAA;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1131dup|||||||1||1||insertion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1131dup|||||||1||1||insertion||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1131dup|||||||1||1||insertion||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1131dup|||||||1||1||insertion||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1131dup|||||||1||1||insertion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1131dup|||||||1||1||insertion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1131dup|||||||1||1||insertion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1131dup|||||||1||1||insertion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1131dup|||||||1||1||insertion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030912	rs1232130144	CA	C	.	AS_VQSR	AC=19;AN=73274;AF=0.000259301;grpmax=afr;fafmax_faf95_max=0.000646880;fafmax_faf95_max_gen_anc=afr;AC_XX=8;AF_XX=0.000208247;AN_XX=38416;nhomalt_XX=0;AC_XY=11;AF_XY=0.000315566;AN_XY=34858;nhomalt_XY=0;nhomalt=0;AC_afr_XX=4;AF_afr_XX=0.000761035;AN_afr_XX=5256;nhomalt_afr_XX=0;AC_afr_XY=7;AF_afr_XY=0.00163858;AN_afr_XY=4272;nhomalt_afr_XY=0;AC_afr=11;AF_afr=0.00115449;AN_afr=9528;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=288;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=308;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=596;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3752;nhomalt_amr_XX=0;AC_amr_XY=2;AF_amr_XY=0.000428816;AN_amr_XY=4664;nhomalt_amr_XY=0;AC_amr=2;AF_amr=0.000237643;AN_amr=8416;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1102;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=942;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2044;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=400;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=494;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=894;nhomalt_eas=0;AC_fin_XX=1;AF_fin_XX=0.000806452;AN_fin_XX=1240;nhomalt_fin_XX=0;AC_fin_XY=1;AF_fin_XY=0.000229991;AN_fin_XY=4348;nhomalt_fin_XY=0;AC_fin=2;AF_fin=0.000357910;AN_fin=5588;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=82;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=76;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=158;nhomalt_mid=0;AC_nfe_XX=3;AF_nfe_XX=0.000118784;AN_nfe_XX=25256;nhomalt_nfe_XX=0;AC_nfe_XY=1;AF_nfe_XY=5.63634e-05;AN_nfe_XY=17742;nhomalt_nfe_XY=0;AC_nfe=4;AF_nfe=9.30276e-05;AN_nfe=42998;nhomalt_nfe=0;AC_raw=356;AF_raw=0.00283629;AN_raw=125516;nhomalt_raw=74;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=466;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=464;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=930;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=574;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1548;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2122;nhomalt_sas=0;AC_grpmax=11;AF_grpmax=0.00115449;AN_grpmax=9528;nhomalt_grpmax=0;faf95=0.000169300;faf95_afr=0.000646880;faf95_amr=4.21100e-05;faf95_eas=0.00000;faf95_nfe=3.16800e-05;faf95_sas=0.00000;faf99=0.000140340;faf99_afr=0.000499970;faf99_amr=1.75900e-05;faf99_eas=0.00000;faf99_nfe=1.86000e-05;faf99_sas=0.00000;fafmax_faf99_max=0.000499970;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=0|0|1|2|0|1|0|1|1|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=1;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=15.7753;MQ=35.4861;MQRankSum=-0.278000;QUALapprox=39406;QD=5.38113;ReadPosRankSum=0.0960000;SOR=1.71900;VarDP=7323;AS_FS=20.8221;AS_MQ=34.8656;AS_MQRankSum=-0.0850000;AS_pab_max=1.00000;AS_QUALapprox=34963;AS_QD=6.18376;AS_ReadPosRankSum=0.0990000;AS_SB_TABLE=2744,2436|1334,466;AS_SOR=2.00701;AS_VarDP=5654;inbreeding_coeff=0.414068;AS_culprit=AS_FS;AS_VQSLOD=-1.40730;negative_train_site;allele_type=del;n_alt_alleles=4;variant_type=mixed;was_mixed;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|1|2|0|0|3|1|2|3|0|1|0|0|1|3|0|2;gq_hist_all_bin_freq=0|0|0|0|23941|7496|3288|1106|420|197|84|37|20|15|7|3|3|3|1|2;dp_hist_alt_bin_freq=0|0|14|4|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9486|13084|8051|4526|1381|78|10|5|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|7|4|3|1|3|1|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0262850;cadd_phred=1.17900;phylop=-1.98400;VRS_Allele_IDs=ga4gh:VA.4CUYQfgNoe7Q4S6VrEZosZ8qdRIXrBTc,ga4gh:VA.4ohkiinlq4Op6VY_9FVSDUDHcXkJlRbP;VRS_Starts=5030911,5030912;VRS_Ends=5030913,5030922;VRS_States=CA,AAAAAAAAA;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1131del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1131del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1131del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1131del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1131del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1131del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1131del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1131del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1131del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030916	.	A	G	.	AC0;AS_VQSR	AC=0;AN=78522;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=40984;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=37538;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5810;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4716;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=10526;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=316;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=324;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=640;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4004;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4992;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8996;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1130;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1006;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2136;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=416;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=510;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=926;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1594;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4920;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6514;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=96;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=84;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=180;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26538;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18856;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=45394;nhomalt_nfe=0;AC_raw=1;AF_raw=7.61197e-06;AN_raw=131372;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=476;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=498;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=974;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=604;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1632;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2236;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=32.7292;MQRankSum=0.00000;QUALapprox=114;QD=7.60000;ReadPosRankSum=0.00000;SOR=0.646000;VarDP=15;AS_FS=0.00000;AS_MQ=27.0000;AS_MQRankSum=0.804000;AS_pab_max=1.00000;AS_QUALapprox=96;AS_QD=16.0000;AS_ReadPosRankSum=0.804000;AS_SB_TABLE=4,6|1,2;AS_SOR=0.764518;AS_VarDP=6;inbreeding_coeff=-7.61203e-06;AS_culprit=AS_MQ;AS_VQSLOD=-4.02280;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25137|8085|3798|1319|479|263|89|36|25|18|7|3|1|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10953|14065|8205|4554|1384|83|10|5|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.290404;cadd_phred=4.17700;phylop=0.437000;VRS_Allele_IDs=ga4gh:VA._um_YQRhLPylS1Qkdog7ehLaaLDDU257,ga4gh:VA.ePQOTJY7EhCSzqO_udABdoOyLM8Qn2Hw;VRS_Starts=5030915,5030915;VRS_Ends=5030916,5030916;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1137A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1137A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1137A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1137A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1137A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1137A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1137A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1137A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1137A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030917	.	A	G	.	AC0;AS_VQSR	AC=0;AN=77966;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=40710;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=37256;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5714;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4608;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=10322;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=312;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=322;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=634;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3988;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4970;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8958;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1138;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1000;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2138;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=412;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=504;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=916;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1578;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4876;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6454;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=92;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=80;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=172;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26414;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18778;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=45192;nhomalt_nfe=0;AC_raw=1;AF_raw=7.64222e-06;AN_raw=130852;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=472;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=500;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=972;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=590;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1618;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2208;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;MQ=27.0000;MQRankSum=0.804000;QUALapprox=66;QD=33.0000;ReadPosRankSum=0.804000;SOR=0.693000;VarDP=2;AS_MQ=27.0000;AS_MQRankSum=0.804000;AS_pab_max=1.00000;AS_QUALapprox=66;AS_QD=33.0000;AS_ReadPosRankSum=0.804000;AS_SB_TABLE=0,1|0,1;AS_SOR=0.693147;AS_VarDP=2;inbreeding_coeff=-7.64228e-06;AS_culprit=AS_MQ;AS_VQSLOD=-5.58420;allele_type=snv;n_alt_alleles=1;variant_type=snv;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25053|8009|3725|1291|465|258|90|36|26|18|7|3|1|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10800|13979|8175|4546|1383|83|10|5|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.100708;cadd_phred=2.09700;phylop=0.437000;VRS_Allele_IDs=ga4gh:VA.1Teqp-dD9Ml_9iMzquiHaSEeTPH2yota,ga4gh:VA.1w0NQQA5NIYKgptob1QK2JnDq04tBXbt;VRS_Starts=5030916,5030916;VRS_Ends=5030917,5030917;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1136A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1136A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1136A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1136A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1136A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1136A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1136A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1136A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1136A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030922	rs1353088595	A	AT	.	AC0	AC=0;AN=75088;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=39300;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=35788;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5244;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4324;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9568;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=296;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=308;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=604;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3768;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4714;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8482;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1120;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=986;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2106;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=374;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=434;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=808;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1506;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4710;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6216;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=88;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=78;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=166;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=25940;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18336;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=44276;nhomalt_nfe=0;AC_raw=2;AF_raw=1.55887e-05;AN_raw=128298;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=458;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=498;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=956;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=506;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1400;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1906;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=4.92991;MQ=31.5682;MQRankSum=-0.550000;QUALapprox=2642965;QD=13.2839;ReadPosRankSum=0.328000;SOR=0.581000;VarDP=198960;AS_FS=.;AS_MQ=29.1048;AS_MQRankSum=0.198000;AS_pab_max=1.00000;AS_QUALapprox=869;AS_QD=17.3800;AS_ReadPosRankSum=0.727000;AS_SB_TABLE=54330,42821|18,12;AS_SOR=0.844564;AS_VarDP=50;inbreeding_coeff=-1.55890e-05;AS_culprit=AS_FS;AS_VQSLOD=16.2099;allele_type=ins;n_alt_alleles=3;variant_type=mixed;was_mixed;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|23469|7152|3202|1005|400|239|199|199|163|125|102|99|90|126|121|818;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10730|13247|7708|4388|1340|79|11|4|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.187890;cadd_phred=0.542000;phylop=-1.14100;VRS_Allele_IDs=ga4gh:VA.Opv-OGGGx7HTRHhDaJ6Bgf_CJme13qQW,ga4gh:VA.OZ6IFxCB9lg4LDF8RKCBUmA1aoaLby-u;VRS_Starts=5030921,5030922;VRS_Ends=5030922,5030924;VRS_States=A,TTT;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1129dup|||||||1||1||insertion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1129dup|||||||1||1||insertion||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1129dup|||||||1||1||insertion||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1129dup|||||||1||1||insertion||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1129dup|||||||1||1||insertion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1129dup|||||||1||1||insertion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1129dup|||||||1||1||insertion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1129dup|||||||1||1||insertion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1129dup|||||||1||1||insertion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030922	.	A	C	.	AC0;AS_VQSR	AC=0;AN=75018;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=39296;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=35722;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5236;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4282;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9518;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=296;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=308;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=604;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3762;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4708;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8470;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1120;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=986;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2106;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=376;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=432;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=808;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1506;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4710;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6216;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=96;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=80;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=176;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=25944;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18338;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=44282;nhomalt_nfe=0;AC_raw=1;AF_raw=7.80056e-06;AN_raw=128196;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=450;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=488;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=938;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=510;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1390;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1900;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=4.92991;MQ=31.5682;MQRankSum=-0.550000;QUALapprox=2642965;QD=13.2839;ReadPosRankSum=0.328000;SOR=0.581000;VarDP=198960;AS_FS=.;AS_MQ=27.0000;AS_pab_max=0.625000;AS_QUALapprox=121;AS_QD=30.2500;AS_SB_TABLE=54330,42821|2,2;AS_SOR=0.483173;AS_VarDP=4;inbreeding_coeff=-7.80062e-06;AS_culprit=AS_MQ;AS_VQSLOD=-5.34530;allele_type=snv;n_alt_alleles=3;variant_type=mixed;was_mixed;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|23469|7152|3202|1005|400|239|199|199|163|125|102|99|90|126|121|818;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10730|13247|7708|4388|1340|79|11|4|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0612290;cadd_phred=1.76600;phylop=-1.14100;VRS_Allele_IDs=ga4gh:VA.Opv-OGGGx7HTRHhDaJ6Bgf_CJme13qQW,ga4gh:VA.puXHBIPXpXP_I1bzdi8JCDPZpUCRlRyn;VRS_Starts=5030921,5030921;VRS_Ends=5030922,5030922;VRS_States=A,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1131A>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1131A>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1131A>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1131A>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1131A>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1131A>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1131A>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1131A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1131A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030922	rs1285450803	A	T	.	AS_VQSR	AC=2417;AN=73728;AF=0.0327827;grpmax=eas;fafmax_faf95_max=0.160974;fafmax_faf95_max_gen_anc=eas;AC_XX=1218;AF_XX=0.0315430;AN_XX=38614;nhomalt_XX=81;AC_XY=1199;AF_XY=0.0341459;AN_XY=35114;nhomalt_XY=72;nhomalt=153;AC_afr_XX=461;AF_afr_XX=0.0919059;AN_afr_XX=5016;nhomalt_afr_XX=37;AC_afr_XY=400;AF_afr_XY=0.0971817;AN_afr_XY=4116;nhomalt_afr_XY=32;AC_afr=861;AF_afr=0.0942838;AN_afr=9132;nhomalt_afr=69;AC_ami_XX=14;AF_ami_XX=0.0489510;AN_ami_XX=286;nhomalt_ami_XX=0;AC_ami_XY=9;AF_ami_XY=0.0294118;AN_ami_XY=306;nhomalt_ami_XY=0;AC_ami=23;AF_ami=0.0388514;AN_ami=592;nhomalt_ami=0;AC_amr_XX=189;AF_amr_XX=0.0513866;AN_amr_XX=3678;nhomalt_amr_XX=12;AC_amr_XY=189;AF_amr_XY=0.0411944;AN_amr_XY=4588;nhomalt_amr_XY=5;AC_amr=378;AF_amr=0.0457295;AN_amr=8266;nhomalt_amr=17;AC_asj_XX=21;AF_asj_XX=0.0191257;AN_asj_XX=1098;nhomalt_asj_XX=0;AC_asj_XY=21;AF_asj_XY=0.0215164;AN_asj_XY=976;nhomalt_asj_XY=0;AC_asj=42;AF_asj=0.0202507;AN_asj=2074;nhomalt_asj=0;AC_eas_XX=67;AF_eas_XX=0.191429;AN_eas_XX=350;nhomalt_eas_XX=16;AC_eas_XY=75;AF_eas_XY=0.181159;AN_eas_XY=414;nhomalt_eas_XY=15;AC_eas=142;AF_eas=0.185864;AN_eas=764;nhomalt_eas=31;AC_fin_XX=38;AF_fin_XX=0.0256065;AN_fin_XX=1484;nhomalt_fin_XX=1;AC_fin_XY=139;AF_fin_XY=0.0297900;AN_fin_XY=4666;nhomalt_fin_XY=3;AC_fin=177;AF_fin=0.0287805;AN_fin=6150;nhomalt_fin=4;AC_mid_XX=3;AF_mid_XX=0.0348837;AN_mid_XX=86;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=78;nhomalt_mid_XY=0;AC_mid=3;AF_mid=0.0182927;AN_mid=164;nhomalt_mid=0;AC_nfe_XX=352;AF_nfe_XX=0.0137050;AN_nfe_XX=25684;nhomalt_nfe_XX=3;AC_nfe_XY=236;AF_nfe_XY=0.0130028;AN_nfe_XY=18150;nhomalt_nfe_XY=2;AC_nfe=588;AF_nfe=0.0134142;AN_nfe=43834;nhomalt_nfe=5;AC_raw=16313;AF_raw=0.127149;AN_raw=128298;nhomalt_raw=4220;AC_remaining_XX=20;AF_remaining_XX=0.0442478;AN_remaining_XX=452;nhomalt_remaining_XX=4;AC_remaining_XY=23;AF_remaining_XY=0.0471311;AN_remaining_XY=488;nhomalt_remaining_XY=4;AC_remaining=43;AF_remaining=0.0457447;AN_remaining=940;nhomalt_remaining=8;AC_sas_XX=53;AF_sas_XX=0.110417;AN_sas_XX=480;nhomalt_sas_XX=8;AC_sas_XY=107;AF_sas_XY=0.0803303;AN_sas_XY=1332;nhomalt_sas_XY=11;AC_sas=160;AF_sas=0.0883002;AN_sas=1812;nhomalt_sas=19;AC_grpmax=142;AF_grpmax=0.185864;AN_grpmax=764;nhomalt_grpmax=31;faf95=0.0316932;faf95_afr=0.0890610;faf95_amr=0.0419301;faf95_eas=0.160974;faf95_nfe=0.0125169;faf95_sas=0.0771393;faf99=0.0312504;faf99_afr=0.0869702;faf99_amr=0.0404362;faf99_eas=0.151514;faf99_nfe=0.0121607;faf99_sas=0.0728757;fafmax_faf99_max=0.151514;fafmax_faf99_max_gen_anc=eas;age_hist_het_bin_freq=43|57|53|74|123|101|98|74|59|27;age_hist_het_n_smaller=95;age_hist_het_n_larger=7;age_hist_hom_bin_freq=2|3|2|7|11|5|4|6|4|0;age_hist_hom_n_smaller=5;age_hist_hom_n_larger=0;FS=4.92991;MQ=31.5682;MQRankSum=-0.550000;QUALapprox=2642965;QD=13.2839;ReadPosRankSum=0.328000;SOR=0.581000;VarDP=198960;AS_FS=4.92991;AS_MQ=31.5688;AS_MQRankSum=-0.546000;AS_pab_max=1.00000;AS_QUALapprox=2642456;AS_QD=13.2841;AS_ReadPosRankSum=0.322000;AS_SB_TABLE=54330,42821|48940,52849;AS_SOR=0.580725;AS_VarDP=198919;inbreeding_coeff=0.447075;AS_culprit=AS_MQ;AS_VQSLOD=-3.36440;allele_type=snv;n_alt_alleles=3;variant_type=mixed;was_mixed;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|5|14|169|60|39|69|141|165|126|116|97|92|87|126|120|818;gq_hist_all_bin_freq=0|0|0|0|23395|7022|3080|935|285|175|170|176|132|118|98|93|87|126|121|818;dp_hist_alt_bin_freq=0|0|1252|665|252|58|15|1|1|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10491|12999|7564|4347|1335|78|11|4|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|628|497|346|184|139|47|93|10|54|45|17|11|29|1|0|0;cadd_raw_score=0.0477430;cadd_phred=1.66300;phylop=-1.14100;VRS_Allele_IDs=ga4gh:VA.Opv-OGGGx7HTRHhDaJ6Bgf_CJme13qQW,ga4gh:VA.qE0BMxbm5zZL2EMVNGhJ-ZGK2iQFFZ-8;VRS_Starts=5030921,5030921;VRS_Ends=5030922,5030922;VRS_States=A,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1131A>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1131A>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1131A>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1131A>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1131A>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1131A>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1131A>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1131A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1131A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030924	.	T	G	.	AC0;AS_VQSR	AC=0;AN=79450;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=41640;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=37810;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=6540;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=5238;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=11778;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=312;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=324;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=636;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3988;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4964;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8952;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1156;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=994;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2150;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=500;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=626;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1126;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1514;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4814;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6328;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=102;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=90;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=192;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26422;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18602;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=45024;nhomalt_nfe=0;AC_raw=1;AF_raw=7.50773e-06;AN_raw=133196;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=494;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=518;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1012;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=612;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1640;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2252;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=9.89005;MQ=27.8723;MQRankSum=0.00000;QUALapprox=114;QD=8.76923;ReadPosRankSum=0.358000;SOR=2.22500;VarDP=13;AS_FS=12.1748;AS_MQ=28.9461;AS_MQRankSum=-1.23100;AS_pab_max=1.00000;AS_QUALapprox=83;AS_QD=11.8571;AS_ReadPosRankSum=0.358000;AS_SB_TABLE=5,2|0,4;AS_SOR=3.22883;AS_VarDP=7;inbreeding_coeff=-7.50779e-06;AS_culprit=AS_SOR;AS_VQSLOD=-6.54350;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|26038|8268|3673|1175|354|154|36|18|4|3|1|0|0|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|11639|14248|7928|4453|1361|82|8|4|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0630480;cadd_phred=1.78000;phylop=-0.376000;VRS_Allele_IDs=ga4gh:VA.TGA9ZhpV0R4awmRLO7ebBjQudCTDgeC_,ga4gh:VA.tGgKjFKwrPUAP3TyfzqUqHuqk9S2JPwn;VRS_Starts=5030923,5030923;VRS_Ends=5030924,5030924;VRS_States=T,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1129T>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1129T>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1129T>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1129T>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1129T>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1129T>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1129T>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1129T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1129T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030928	rs1987118131	C	T	.	AC0	AC=0;AN=80984;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=42396;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=38588;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=6882;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=5536;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=12418;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=316;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=324;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=640;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4044;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5078;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9122;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1160;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1010;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2170;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=552;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=674;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1226;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1554;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4914;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6468;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=106;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=86;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=192;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26664;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18740;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=45404;nhomalt_nfe=0;AC_raw=1;AF_raw=7.35478e-06;AN_raw=135966;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=490;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=540;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1030;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=628;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1686;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2314;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=9.64327e-16;MQ=35.6438;MQRankSum=0.116000;QUALapprox=1285;QD=22.9464;ReadPosRankSum=1.18200;SOR=0.668000;VarDP=56;AS_FS=9.64327e-16;AS_MQ=35.6438;AS_MQRankSum=0.116000;AS_pab_max=0.125000;AS_QUALapprox=1285;AS_QD=22.9464;AS_ReadPosRankSum=1.18200;AS_SB_TABLE=7,5|25,19;AS_SOR=0.668150;AS_VarDP=56;inbreeding_coeff=-7.35483e-06;AS_culprit=AS_MQ;AS_VQSLOD=-2.35610;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|26744|8396|3670|1137|340|147|33|16|4|3|1|0|0|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|12396|14298|7904|4438|1358|83|9|4|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0397580;cadd_phred=1.10600;phylop=0.565000;VRS_Allele_IDs=ga4gh:VA.jaCQEtj4qlUuOLxfKcNI2DwbHlp8CazH,ga4gh:VA.DDFTc8y4Key4FAZvCFOtO-ZrKqr5rTk5;VRS_Starts=5030927,5030927;VRS_Ends=5030928,5030928;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1125C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1125C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1125C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1125C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1125C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1125C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1125C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1125C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1125C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030929	.	A	C	.	AC0;AS_VQSR	AC=0;AN=81362;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=42598;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=38764;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=6952;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=5574;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=12526;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=320;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=326;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=646;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4074;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5132;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9206;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1170;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1010;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2180;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=554;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=680;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1234;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1554;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4938;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6492;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=106;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=90;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=196;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26734;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18804;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=45538;nhomalt_nfe=0;AC_raw=1;AF_raw=7.32332e-06;AN_raw=136550;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=500;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=536;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1036;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=634;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1674;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2308;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=38.1285;MQRankSum=0.804000;QUALapprox=81;QD=5.78571;ReadPosRankSum=0.804000;SOR=0.631000;VarDP=14;AS_FS=0.00000;AS_MQ=27.0000;AS_MQRankSum=0.804000;AS_pab_max=1.00000;AS_QUALapprox=68;AS_QD=34.0000;AS_ReadPosRankSum=0.804000;AS_SB_TABLE=4,7|0,1;AS_SOR=0.940983;AS_VarDP=2;inbreeding_coeff=-7.32338e-06;AS_culprit=AS_QD;AS_VQSLOD=-5.47770;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|26851|8435|3710|1140|342|146|33|15|4|3|1|0|0|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|12567|14324|7901|4435|1357|82|9|4|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0830090;cadd_phred=0.899000;phylop=-0.365000;VRS_Allele_IDs=ga4gh:VA.6L-PFNNRv59etj_20hQa83_Ef0jtcv4D,ga4gh:VA.mE_li1fzdHkidVfdqW_LA7cXYr9yUial;VRS_Starts=5030928,5030928;VRS_Ends=5030929,5030929;VRS_States=A,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1124A>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1124A>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1124A>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1124A>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1124A>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1124A>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1124A>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1124A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1124A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030932	.	C	A	.	AC0;AS_VQSR	AC=0;AN=81144;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=42544;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=38600;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=7036;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=5594;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=12630;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=328;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=328;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=656;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4052;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5106;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9158;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1174;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1008;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2182;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=556;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=700;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1256;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1552;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4872;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6424;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=106;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=92;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=198;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26598;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18704;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=45302;nhomalt_nfe=0;AC_raw=2;AF_raw=1.46239e-05;AN_raw=136762;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=512;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=536;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1048;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=630;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1660;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2290;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=8.23075;MQ=28.9341;MQRankSum=0.727000;QUALapprox=975;QD=12.8289;ReadPosRankSum=0.135000;SOR=0.222000;VarDP=76;AS_FS=0.00000;AS_MQ=28.7359;AS_MQRankSum=0.727000;AS_pab_max=0.625000;AS_QUALapprox=78;AS_QD=4.10526;AS_ReadPosRankSum=0.727000;AS_SB_TABLE=32,12|2,1;AS_SOR=0.299492;AS_VarDP=19;inbreeding_coeff=-1.46242e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.35000;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|26921|8389|3626|1108|331|138|31|15|5|3|1|0|0|0|1|3;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|12596|14241|7856|4427|1355|82|9|4|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0860550;cadd_phred=0.886000;phylop=0.565000;VRS_Allele_IDs=ga4gh:VA.Kb-VbECWaWobhId0nnRWz7X61oZRiss3,ga4gh:VA.H_JRK2k5kkmA0nwbqrpk74GADDtuUQIo;VRS_Starts=5030931,5030931;VRS_Ends=5030932,5030932;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1121C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1121C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1121C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1121C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1121C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1121C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1121C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1121C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1121C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030932	rs1360267601	C	G	.	AS_VQSR	AC=2;AN=81144;AF=2.46475e-05;grpmax=afr;fafmax_faf95_max=2.81200e-05;fafmax_faf95_max_gen_anc=afr;AC_XX=1;AF_XX=2.35051e-05;AN_XX=42544;nhomalt_XX=0;AC_XY=1;AF_XY=2.59067e-05;AN_XY=38600;nhomalt_XY=0;nhomalt=0;AC_afr_XX=1;AF_afr_XX=0.000142126;AN_afr_XX=7036;nhomalt_afr_XX=0;AC_afr_XY=1;AF_afr_XY=0.000178763;AN_afr_XY=5594;nhomalt_afr_XY=0;AC_afr=2;AF_afr=0.000158353;AN_afr=12630;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=328;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=328;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=656;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4052;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5106;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9158;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1174;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1008;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2182;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=556;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=700;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1256;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1552;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4872;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6424;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=106;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=92;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=198;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26598;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18704;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=45302;nhomalt_nfe=0;AC_raw=5;AF_raw=3.65599e-05;AN_raw=136762;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=512;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=536;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1048;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=630;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1660;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2290;nhomalt_sas=0;AC_grpmax=2;AF_grpmax=0.000158353;AN_grpmax=12630;nhomalt_grpmax=0;faf95=4.09000e-06;faf95_afr=2.81200e-05;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=1.53000e-06;faf99_afr=1.17500e-05;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=1.17500e-05;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=0|0|0|0|1|0|0|0|1|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=8.23075;MQ=28.9341;MQRankSum=0.727000;QUALapprox=975;QD=12.8289;ReadPosRankSum=0.135000;SOR=0.222000;VarDP=76;AS_FS=4.60314;AS_MQ=29.0117;AS_MQRankSum=0.736000;AS_pab_max=1.00000;AS_QUALapprox=525;AS_QD=15.4412;AS_ReadPosRankSum=-0.474000;AS_SB_TABLE=32,12|9,7;AS_SOR=0.217111;AS_VarDP=34;inbreeding_coeff=0.399978;AS_culprit=AS_MQ;AS_VQSLOD=-5.23860;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|2;gq_hist_all_bin_freq=0|0|0|0|26921|8389|3626|1108|331|138|31|15|5|3|1|0|0|0|1|3;dp_hist_alt_bin_freq=0|0|1|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|12596|14241|7856|4427|1355|82|9|4|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|1|0|0|0|0|0|1|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0688030;cadd_phred=0.963000;phylop=0.565000;VRS_Allele_IDs=ga4gh:VA.Kb-VbECWaWobhId0nnRWz7X61oZRiss3,ga4gh:VA.cgDbGmIXm6vHKjnC2wI-7LhvsZ3FZqJk;VRS_Starts=5030931,5030931;VRS_Ends=5030932,5030932;VRS_States=C,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1121C>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1121C>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1121C>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1121C>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1121C>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1121C>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1121C>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1121C>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1121C>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030932	rs1360267601	C	T	.	AS_VQSR	AC=1;AN=81144;AF=1.23238e-05;grpmax=nfe;AC_XX=1;AF_XX=2.35051e-05;AN_XX=42544;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=38600;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=7036;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=5594;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=12630;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=328;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=328;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=656;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4052;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5106;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9158;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1174;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1008;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2182;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=556;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=700;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1256;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1552;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4872;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6424;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=106;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=92;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=198;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=3.75968e-05;AN_nfe_XX=26598;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18704;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=2.20741e-05;AN_nfe=45302;nhomalt_nfe=0;AC_raw=1;AF_raw=7.31197e-06;AN_raw=136762;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=512;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=536;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1048;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=630;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1660;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2290;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=2.20741e-05;AN_grpmax=45302;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=8.23075;MQ=28.9341;MQRankSum=0.727000;QUALapprox=975;QD=12.8289;ReadPosRankSum=0.135000;SOR=0.222000;VarDP=76;AS_FS=5.11532;AS_MQ=28.9885;AS_MQRankSum=-0.227000;AS_pab_max=0.453125;AS_QUALapprox=372;AS_QD=16.1739;AS_ReadPosRankSum=0.198000;AS_SB_TABLE=32,12|7,6;AS_SOR=0.184565;AS_VarDP=23;inbreeding_coeff=-7.31203e-06;AS_culprit=AS_MQ;AS_VQSLOD=-4.86510;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|26921|8389|3626|1108|331|138|31|15|5|3|1|0|0|0|1|3;dp_hist_alt_bin_freq=0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|12596|14241|7856|4427|1355|82|9|4|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0;cadd_raw_score=-0.0265310;cadd_phred=1.17800;phylop=0.565000;VRS_Allele_IDs=ga4gh:VA.Kb-VbECWaWobhId0nnRWz7X61oZRiss3,ga4gh:VA.SO20D4_xs-zBQTVc4Tcq7jxRIoSyuDeO;VRS_Starts=5030931,5030931;VRS_Ends=5030932,5030932;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1121C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1121C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1121C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1121C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1121C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1121C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1121C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1121C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1121C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030937	rs1464427235	T	TGGTGCACGCCTGCAGTCCCGGC	.	PASS	AC=6;AN=80654;AF=7.43918e-05;grpmax=afr;fafmax_faf95_max=2.64400e-05;fafmax_faf95_max_gen_anc=afr;AC_XX=4;AF_XX=9.44778e-05;AN_XX=42338;nhomalt_XX=0;AC_XY=2;AF_XY=5.21975e-05;AN_XY=38316;nhomalt_XY=0;nhomalt=0;AC_afr_XX=2;AF_afr_XX=0.000278396;AN_afr_XX=7184;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=5784;nhomalt_afr_XY=0;AC_afr=2;AF_afr=0.000154226;AN_afr=12968;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=330;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=318;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=648;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4046;nhomalt_amr_XX=0;AC_amr_XY=1;AF_amr_XY=0.000200080;AN_amr_XY=4998;nhomalt_amr_XY=0;AC_amr=1;AF_amr=0.000110571;AN_amr=9044;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1162;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1000;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2162;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=590;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=752;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1342;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1366;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4672;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6038;nhomalt_fin=0;AC_mid_XX=1;AF_mid_XX=0.0104167;AN_mid_XX=96;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=82;nhomalt_mid_XY=0;AC_mid=1;AF_mid=0.00561798;AN_mid=178;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=3.78587e-05;AN_nfe_XX=26414;nhomalt_nfe_XX=0;AC_nfe_XY=1;AF_nfe_XY=5.39840e-05;AN_nfe_XY=18524;nhomalt_nfe_XY=0;AC_nfe=2;AF_nfe=4.45058e-05;AN_nfe=44938;nhomalt_nfe=0;AC_raw=26;AF_raw=0.000189734;AN_raw=137034;nhomalt_raw=5;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=528;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=532;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1060;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=622;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1654;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2276;nhomalt_sas=0;AC_grpmax=2;AF_grpmax=0.000154226;AN_grpmax=12968;nhomalt_grpmax=0;faf95=3.16800e-05;faf95_afr=2.64400e-05;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=7.38000e-06;faf95_sas=0.00000;faf99=2.15100e-05;faf99_afr=1.05000e-05;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=2.76000e-06;faf99_sas=0.00000;fafmax_faf99_max=1.05000e-05;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.74368;MQ=31.0386;MQRankSum=0.00000;QUALapprox=18360;QD=24.1579;ReadPosRankSum=-0.198000;SOR=0.579000;VarDP=760;AS_FS=1.74480;AS_MQ=30.9923;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=18206;AS_QD=24.9056;AS_ReadPosRankSum=-0.198000;AS_SB_TABLE=187,216|175,174;AS_SOR=0.566472;AS_VarDP=731;inbreeding_coeff=0.384499;AS_culprit=AS_MQRankSum;AS_VQSLOD=1.81690;allele_type=ins;n_alt_alleles=3;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|6;gq_hist_all_bin_freq=0|0|0|0|27016|8266|3485|1038|308|122|28|13|3|2|1|0|0|0|1|6;dp_hist_alt_bin_freq=0|0|5|2|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|12748|14036|7725|4357|1332|78|7|4|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|2|0|0|0|0|2|0|1|0|0|0|1|0|0|0;cadd_raw_score=-0.0605950;cadd_phred=1.00100;pangolin_largest_ds=0.00000;phylop=0.444000;VRS_Allele_IDs=ga4gh:VA.609X0fJ8-pLaAH3BAZawguDoheeunaI1,ga4gh:VA.tLL9Vnh5BghNeU8y5UDbdFVp-WNUjyVe;VRS_Starts=5030936,5030937;VRS_Ends=5030937,5030959;VRS_States=T,GGTGCACGCCTGCAGTCCCGGCGGTGCACGCCTGCAGTCCCGGC;vep=GGTGCACGCCTGCAGTCCCGGC|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1115_698-1094dup|||||||1||1||insertion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,GGTGCACGCCTGCAGTCCCGGC|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1115_347-1094dup|||||||1||1||insertion||||||5|||ENSP00000484302||Ensembl|||||||||||||,GGTGCACGCCTGCAGTCCCGGC|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1115_347-1094dup|||||||1||1||insertion||||||2|||ENSP00000485649||Ensembl|||||||||||||,GGTGCACGCCTGCAGTCCCGGC|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1115_*312-1094dup|||||||1||1||insertion||||||2|||ENSP00000485557||Ensembl|||||||||||||,GGTGCACGCCTGCAGTCCCGGC|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1115_698-1094dup|||||||1||1||insertion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,GGTGCACGCCTGCAGTCCCGGC|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1115_698-1094dup|||||||1||1||insertion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,GGTGCACGCCTGCAGTCCCGGC|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1115_698-1094dup|||||||1||1||insertion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,GGTGCACGCCTGCAGTCCCGGC|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1115_698-1094dup|||||||1||1||insertion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,GGTGCACGCCTGCAGTCCCGGC|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1115_698-1094dup|||||||1||1||insertion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030942	rs1987118388	C	T	.	AS_VQSR	AC=1;AN=82718;AF=1.20893e-05;grpmax=nfe;AC_XX=1;AF_XX=2.30181e-05;AN_XX=43444;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=39274;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=7564;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=6050;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=13614;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=332;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=322;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=654;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4122;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5150;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9272;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1200;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1014;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2214;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=636;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=776;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1412;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1498;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4904;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6402;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=108;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=102;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=210;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=3.72550e-05;AN_nfe_XX=26842;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18770;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=2.19241e-05;AN_nfe=45612;nhomalt_nfe=0;AC_raw=1;AF_raw=7.21033e-06;AN_raw=138690;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=520;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=532;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1052;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=622;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1654;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2276;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=2.19241e-05;AN_grpmax=45612;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|1|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.33249;MQ=35.3538;MQRankSum=-0.751000;QUALapprox=390;QD=10.8333;ReadPosRankSum=0.751000;SOR=0.421000;VarDP=36;AS_FS=0.00000;AS_MQ=35.5563;AS_MQRankSum=-1.38300;AS_pab_max=1.00000;AS_QUALapprox=376;AS_QD=13.9259;AS_ReadPosRankSum=-0.995000;AS_SB_TABLE=8,13|6,8;AS_SOR=0.520669;AS_VarDP=27;inbreeding_coeff=-7.21038e-06;AS_culprit=AS_MQ;AS_VQSLOD=-3.26520;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|27695|8476|3638|1057|317|127|26|13|4|2|2|0|0|0|1|1;dp_hist_alt_bin_freq=0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|13635|14206|7752|4355|1322|77|7|3|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.165421;cadd_phred=2.73900;phylop=0.565000;VRS_Allele_IDs=ga4gh:VA.KzASvd0JLP5VhzVlZzDx6u8Qq_3w6udg,ga4gh:VA.FU0jHSSp7uVYoYzGfpJdlsMcUsfXyJkq;VRS_Starts=5030941,5030941;VRS_Ends=5030942,5030942;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1111C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1111C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1111C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1111C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1111C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1111C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1111C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1111C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1111C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030944	.	C	A	.	AC0;AS_VQSR	AC=0;AN=83250;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=43714;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=39536;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=7688;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=6152;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=13840;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=330;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=324;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=654;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4136;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5164;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9300;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1194;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1012;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2206;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=674;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=802;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1476;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1508;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4918;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6426;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=106;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=102;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=208;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26912;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18838;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=45750;nhomalt_nfe=0;AC_raw=1;AF_raw=7.17731e-06;AN_raw=139328;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=518;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=530;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1048;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=648;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1694;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2342;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=2.40030;MQ=31.8855;MQRankSum=0.720000;QUALapprox=1030;QD=8.24000;ReadPosRankSum=0.727000;SOR=0.935000;VarDP=125;AS_FS=0.00000;AS_MQ=27.0000;AS_MQRankSum=0.731000;AS_pab_max=0.375000;AS_QUALapprox=72;AS_QD=5.53846;AS_ReadPosRankSum=1.06700;AS_SB_TABLE=43,39|2,1;AS_SOR=1.05065;AS_VarDP=13;inbreeding_coeff=-7.17736e-06;AS_culprit=AS_MQ;AS_VQSLOD=-3.03220;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|27850|8553|3682|1059|311|121|27|13|4|3|1|0|0|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|13852|14272|7736|4355|1321|77|7|3|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.351563;cadd_phred=0.243000;phylop=-3.57300;VRS_Allele_IDs=ga4gh:VA.r7hE541-SVlzV9ed8Bifk0m4lXuBxw8f,ga4gh:VA.eVVHXVasjMFOeQAoVj_iwLIsKQM97aBd;VRS_Starts=5030943,5030943;VRS_Ends=5030944,5030944;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1109C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1109C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1109C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1109C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1109C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1109C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1109C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1109C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1109C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030944	rs1402698247	C	T	.	AC0;AS_VQSR	AC=0;AN=83250;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=43714;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=39536;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=7688;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=6152;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=13840;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=330;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=324;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=654;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4136;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5164;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9300;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1194;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1012;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2206;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=674;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=802;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1476;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1508;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4918;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6426;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=106;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=102;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=208;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26912;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18838;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=45750;nhomalt_nfe=0;AC_raw=6;AF_raw=4.30638e-05;AN_raw=139328;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=518;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=530;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1048;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=648;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1694;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2342;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=2.40030;MQ=31.8855;MQRankSum=0.720000;QUALapprox=1030;QD=8.24000;ReadPosRankSum=0.727000;SOR=0.935000;VarDP=125;AS_FS=1.55204;AS_MQ=32.4003;AS_MQRankSum=0.720000;AS_pab_max=1.00000;AS_QUALapprox=958;AS_QD=8.55357;AS_ReadPosRankSum=0.482000;AS_SB_TABLE=43,39|23,17;AS_SOR=0.903910;AS_VarDP=112;inbreeding_coeff=-4.30657e-05;AS_culprit=AS_MQ;AS_VQSLOD=-2.73450;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|27850|8553|3682|1059|311|121|27|13|4|3|1|0|0|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|13852|14272|7736|4355|1321|77|7|3|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.292039;cadd_phred=0.324000;phylop=-3.57300;VRS_Allele_IDs=ga4gh:VA.r7hE541-SVlzV9ed8Bifk0m4lXuBxw8f,ga4gh:VA.XBBiv3SoLOHRqrnjw2_NUdNayEy3F-Gs;VRS_Starts=5030943,5030943;VRS_Ends=5030944,5030944;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1109C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1109C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1109C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1109C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1109C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1109C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1109C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1109C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1109C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030945	rs1171726127	G	A	.	AS_VQSR	AC=2;AN=83760;AF=2.38777e-05;grpmax=nfe;fafmax_faf95_max=7.23000e-06;fafmax_faf95_max_gen_anc=nfe;AC_XX=1;AF_XX=2.27500e-05;AN_XX=43956;nhomalt_XX=0;AC_XY=1;AF_XY=2.51231e-05;AN_XY=39804;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=7780;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=6254;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=14034;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=330;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=324;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=654;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4158;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5186;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9344;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1212;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1018;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2230;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=690;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=814;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1504;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1520;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4976;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6496;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=108;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=102;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=210;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=3.70508e-05;AN_nfe_XX=26990;nhomalt_nfe_XX=0;AC_nfe_XY=1;AF_nfe_XY=5.29773e-05;AN_nfe_XY=18876;nhomalt_nfe_XY=0;AC_nfe=2;AF_nfe=4.36053e-05;AN_nfe=45866;nhomalt_nfe=0;AC_raw=8;AF_raw=5.71951e-05;AN_raw=139872;nhomalt_raw=2;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=522;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=544;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1066;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=646;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1710;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2356;nhomalt_sas=0;AC_grpmax=2;AF_grpmax=4.36053e-05;AN_grpmax=45866;nhomalt_grpmax=0;faf95=3.96000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=7.23000e-06;faf95_sas=0.00000;faf99=1.48000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=2.70000e-06;faf99_sas=0.00000;fafmax_faf99_max=2.70000e-06;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|0|0|1|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=33.1188;MQRankSum=0.800000;QUALapprox=2199;QD=15.0616;ReadPosRankSum=0.198000;SOR=0.678000;VarDP=146;AS_FS=0.00000;AS_MQ=33.1188;AS_MQRankSum=0.800000;AS_pab_max=1.00000;AS_QUALapprox=2199;AS_QD=15.0616;AS_ReadPosRankSum=0.198000;AS_SB_TABLE=24,39|32,51;AS_SOR=0.677996;AS_VarDP=146;inbreeding_coeff=0.499971;AS_culprit=AS_MQ;AS_VQSLOD=-3.06270;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|1;gq_hist_all_bin_freq=0|0|0|0|28050|8572|3707|1059|318|124|28|13|3|2|1|0|0|1|1|1;dp_hist_alt_bin_freq=0|0|1|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14057|14320|7742|4351|1320|77|8|3|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|1|0|0|1|0|0|0|0|0|0|0;cadd_raw_score=-0.0137000;cadd_phred=1.25200;phylop=-1.61800;VRS_Allele_IDs=ga4gh:VA.pBK5bN2Qf51rfpQBvscXTnOA-Z-rrdB3,ga4gh:VA.OTxFyMyk5Jn9_gMlwKMdC1U0qdysLLR9;VRS_Starts=5030944,5030944;VRS_Ends=5030945,5030945;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1108G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1108G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1108G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1108G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1108G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1108G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1108G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1108G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1108G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030954	rs1474917957	C	A	.	AS_VQSR	AC=1;AN=85254;AF=1.17297e-05;grpmax=amr;AC_XX=1;AF_XX=2.23604e-05;AN_XX=44722;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=40532;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=8276;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=6682;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=14958;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=344;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=326;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=670;nhomalt_ami=0;AC_amr_XX=1;AF_amr_XX=0.000239578;AN_amr_XX=4174;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5220;nhomalt_amr_XY=0;AC_amr=1;AF_amr=0.000106451;AN_amr=9394;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1234;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1032;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2266;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=746;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=868;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1614;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1516;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5022;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6538;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=100;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=100;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=200;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27148;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18982;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46130;nhomalt_nfe=0;AC_raw=3;AF_raw=2.11700e-05;AN_raw=141710;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=544;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=558;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1102;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=640;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1742;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2382;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000106451;AN_grpmax=9394;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=13.9449;MQ=33.4877;MQRankSum=0.00000;QUALapprox=304;QD=7.60000;ReadPosRankSum=-0.296000;SOR=2.98500;VarDP=40;AS_FS=13.9449;AS_MQ=33.4877;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=304;AS_QD=7.60000;AS_ReadPosRankSum=-0.296000;AS_SB_TABLE=13,13|12,2;AS_SOR=2.98456;AS_VarDP=40;inbreeding_coeff=-2.11704e-05;AS_culprit=AS_SOR;AS_VQSLOD=-5.46390;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|28431|8690|3843|1109|321|129|32|14|3|2|1|0|0|0|1|0;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14782|14431|7643|4317|1314|76|8|3|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.119170;cadd_phred=2.26800;phylop=0.553000;VRS_Allele_IDs=ga4gh:VA.-MnGg1fmcl8-UExY52W6UTbkf0x_5Ilm,ga4gh:VA.yFo4PrpTEBAPHb36L5JYEo1CRHqIfRat;VRS_Starts=5030953,5030953;VRS_Ends=5030954,5030954;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1099C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1099C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1099C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1099C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1099C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1099C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1099C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1099C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1099C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030956	rs1415684917	C	T	.	AS_VQSR	AC=5;AN=85646;AF=5.83798e-05;grpmax=eas;fafmax_faf95_max=2.91600e-05;fafmax_faf95_max_gen_anc=nfe;AC_XX=1;AF_XX=2.22529e-05;AN_XX=44938;nhomalt_XX=0;AC_XY=4;AF_XY=9.82608e-05;AN_XY=40708;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=8362;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=6754;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=15116;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=342;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=330;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=672;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4194;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5246;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9440;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1222;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1028;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2250;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=776;nhomalt_eas_XX=0;AC_eas_XY=1;AF_eas_XY=0.00113122;AN_eas_XY=884;nhomalt_eas_XY=0;AC_eas=1;AF_eas=0.000602410;AN_eas=1660;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1534;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5000;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6534;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=100;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=100;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=200;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=3.67350e-05;AN_nfe_XX=27222;nhomalt_nfe_XX=0;AC_nfe_XY=3;AF_nfe_XY=0.000157546;AN_nfe_XY=19042;nhomalt_nfe_XY=0;AC_nfe=4;AF_nfe=8.64603e-05;AN_nfe=46264;nhomalt_nfe=0;AC_raw=9;AF_raw=6.33714e-05;AN_raw=142020;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=544;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=556;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1100;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=642;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1768;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2410;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000602410;AN_grpmax=1660;nhomalt_grpmax=0;faf95=2.20600e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=2.91600e-05;faf95_sas=0.00000;faf99=1.43800e-05;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=1.75700e-05;faf99_sas=0.00000;fafmax_faf99_max=1.75700e-05;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|1|1|1|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=12.1846;MQ=33.1904;MQRankSum=0.135000;QUALapprox=2816;QD=14.4410;ReadPosRankSum=0.491000;SOR=1.20400;VarDP=195;AS_FS=12.1846;AS_MQ=33.1904;AS_MQRankSum=0.135000;AS_pab_max=1.00000;AS_QUALapprox=2816;AS_QD=14.4410;AS_ReadPosRankSum=0.491000;AS_SB_TABLE=45,41|42,67;AS_SOR=1.20431;AS_VarDP=195;inbreeding_coeff=0.222173;AS_culprit=AS_MQ;AS_VQSLOD=-2.91470;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|4;gq_hist_all_bin_freq=0|0|0|0|28570|8733|3859|1110|322|120|33|15|3|2|1|1|0|0|1|4;dp_hist_alt_bin_freq=0|0|1|1|3|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14976|14456|7641|4306|1307|76|7|3|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|1|0|0|0|0|2|0|1|0|1|0|0|0|0|0;cadd_raw_score=-0.00868200;cadd_phred=1.28200;phylop=-1.79800;VRS_Allele_IDs=ga4gh:VA.6w5KhM-GqA0qcaff2UkXvdxU6QurrPjz,ga4gh:VA.1gRHauVfSFyREzmIzbhs_tly767ErMTU;VRS_Starts=5030955,5030955;VRS_Ends=5030956,5030956;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1097C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1097C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1097C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1097C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1097C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1097C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1097C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1097C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1097C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030957	rs1183687469	G	A	.	AS_VQSR	AC=1328;AN=84950;AF=0.0156327;grpmax=afr;fafmax_faf95_max=0.0805193;fafmax_faf95_max_gen_anc=afr;AC_XX=753;AF_XX=0.0168933;AN_XX=44574;nhomalt_XX=53;AC_XY=575;AF_XY=0.0142411;AN_XY=40376;nhomalt_XY=43;nhomalt=96;AC_afr_XX=715;AF_afr_XX=0.0864989;AN_afr_XX=8266;nhomalt_afr_XX=51;AC_afr_XY=543;AF_afr_XY=0.0817771;AN_afr_XY=6640;nhomalt_afr_XY=42;AC_afr=1258;AF_afr=0.0843955;AN_afr=14906;nhomalt_afr=93;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=328;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=328;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=656;nhomalt_ami=0;AC_amr_XX=29;AF_amr_XX=0.00693448;AN_amr_XX=4182;nhomalt_amr_XX=1;AC_amr_XY=24;AF_amr_XY=0.00461894;AN_amr_XY=5196;nhomalt_amr_XY=0;AC_amr=53;AF_amr=0.00565152;AN_amr=9378;nhomalt_amr=1;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1224;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1038;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2262;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=748;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=858;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1606;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1512;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4988;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6500;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=102;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=200;nhomalt_mid=0;AC_nfe_XX=5;AF_nfe_XX=0.000184693;AN_nfe_XX=27072;nhomalt_nfe_XX=1;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18916;nhomalt_nfe_XY=0;AC_nfe=5;AF_nfe=0.000108724;AN_nfe=45988;nhomalt_nfe=1;AC_raw=4447;AF_raw=0.0316018;AN_raw=140720;nhomalt_raw=581;AC_remaining_XX=4;AF_remaining_XX=0.00754717;AN_remaining_XX=530;nhomalt_remaining_XX=0;AC_remaining_XY=8;AF_remaining_XY=0.0143885;AN_remaining_XY=556;nhomalt_remaining_XY=1;AC_remaining=12;AF_remaining=0.0110497;AN_remaining=1086;nhomalt_remaining=1;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=614;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1754;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2368;nhomalt_sas=0;AC_grpmax=1258;AF_grpmax=0.0843955;AN_grpmax=14906;nhomalt_grpmax=93;faf95=0.0149331;faf95_afr=0.0805193;faf95_amr=0.00443739;faf95_eas=0.00000;faf95_nfe=4.26000e-05;faf95_sas=0.00000;faf99=0.0146521;faf99_afr=0.0789581;faf99_amr=0.00400282;faf99_eas=0.00000;faf99_nfe=2.70200e-05;faf99_sas=0.00000;fafmax_faf99_max=0.0789581;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=17|36|47|46|67|62|47|49|31|20;age_hist_het_n_smaller=93;age_hist_het_n_larger=7;age_hist_hom_bin_freq=0|2|0|6|5|4|11|9|2|0;age_hist_hom_n_smaller=3;age_hist_hom_n_larger=0;FS=7.02412;MQ=29.1997;MQRankSum=0.00000;QUALapprox=975942;QD=14.5730;ReadPosRankSum=0.298000;SOR=0.771000;VarDP=66969;AS_FS=7.02412;AS_MQ=29.1997;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=975942;AS_QD=14.5730;AS_ReadPosRankSum=0.315000;AS_SB_TABLE=16610,13597|16552,20210;AS_SOR=0.770543;AS_VarDP=66969;inbreeding_coeff=0.237194;AS_culprit=AS_MQ;AS_VQSLOD=-3.79560;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|6|8|78|26|19|29|32|50|39|54|21|31|40|50|88|646;gq_hist_all_bin_freq=0|0|0|0|27987|8388|3534|1003|294|136|53|57|42|56|22|31|40|50|88|646;dp_hist_alt_bin_freq=0|0|850|272|78|12|3|1|1|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14804|14374|7583|4271|1305|77|8|3|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|79|122|117|110|133|64|162|51|112|77|37|28|30|0|0|0;cadd_raw_score=-0.0461440;cadd_phred=1.07300;phylop=-0.451000;VRS_Allele_IDs=ga4gh:VA.3LHlcC4uFLCvx5siRSI1NMvsX5yV1XHi,ga4gh:VA.EdaFJFvtrrLHvSpyAdKecNSDfiY2yjPq;VRS_Starts=5030956,5030956;VRS_Ends=5030957,5030957;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1096G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1096G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1096G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1096G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1096G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1096G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1096G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1096G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1096G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030958	.	G	T	.	AS_VQSR	AC=1;AN=87466;AF=1.14330e-05;grpmax=sas;AC_XX=0;AF_XX=0.00000;AN_XX=45844;nhomalt_XX=0;AC_XY=1;AF_XY=2.40258e-05;AN_XY=41622;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=9106;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=7482;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=16588;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=342;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=332;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=674;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4232;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5270;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9502;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1232;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1044;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2276;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=794;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=890;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1684;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1532;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5054;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6586;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=100;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=102;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=202;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27324;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19102;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46426;nhomalt_nfe=0;AC_raw=1;AF_raw=7.01321e-06;AN_raw=142588;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=540;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=566;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1106;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=642;nhomalt_sas_XX=0;AC_sas_XY=1;AF_sas_XY=0.000561798;AN_sas_XY=1780;nhomalt_sas_XY=0;AC_sas=1;AF_sas=0.000412882;AN_sas=2422;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000412882;AN_grpmax=2422;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.52694;MQ=29.3295;MQRankSum=1.95300;QUALapprox=527;QD=19.5185;ReadPosRankSum=0.594000;SOR=0.603000;VarDP=27;AS_FS=1.52694;AS_MQ=29.3295;AS_MQRankSum=1.95300;AS_pab_max=0.0385742;AS_QUALapprox=527;AS_QD=19.5185;AS_ReadPosRankSum=0.594000;AS_SB_TABLE=7,5|7,8;AS_SOR=0.603291;AS_VarDP=27;inbreeding_coeff=-7.01326e-06;AS_culprit=AS_MQ;AS_VQSLOD=-4.25120;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|29192|8934|3885|1144|314|146|45|8|5|4|1|0|1|0|0|2;dp_hist_alt_bin_freq=0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|15491|14832|7659|4301|1308|78|7|3|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|0;cadd_raw_score=0.0821150;cadd_phred=1.93600;phylop=0.548000;VRS_Allele_IDs=ga4gh:VA.OnJiLgievYFn2A4kN6CNOb7STZk5jsR9,ga4gh:VA.GEvspItrCYtcmagvQlJL7KOLUWNbafNI;VRS_Starts=5030957,5030957;VRS_Ends=5030958,5030958;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1095G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1095G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1095G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1095G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1095G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1095G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1095G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1095G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1095G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030960	rs1473057602	T	C	.	AS_VQSR	AC=534;AN=86970;AF=0.00614005;grpmax=afr;fafmax_faf95_max=0.0261335;fafmax_faf95_max_gen_anc=afr;AC_XX=294;AF_XX=0.00644200;AN_XX=45638;nhomalt_XX=18;AC_XY=240;AF_XY=0.00580664;AN_XY=41332;nhomalt_XY=26;nhomalt=44;AC_afr_XX=258;AF_afr_XX=0.0286158;AN_afr_XX=9016;nhomalt_afr_XX=16;AC_afr_XY=205;AF_afr_XY=0.0278230;AN_afr_XY=7368;nhomalt_afr_XY=22;AC_afr=463;AF_afr=0.0282593;AN_afr=16384;nhomalt_afr=38;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=346;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=328;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=674;nhomalt_ami=0;AC_amr_XX=24;AF_amr_XX=0.00567644;AN_amr_XX=4228;nhomalt_amr_XX=2;AC_amr_XY=21;AF_amr_XY=0.00398936;AN_amr_XY=5264;nhomalt_amr_XY=4;AC_amr=45;AF_amr=0.00474083;AN_amr=9492;nhomalt_amr=6;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1230;nhomalt_asj_XX=0;AC_asj_XY=3;AF_asj_XY=0.00286260;AN_asj_XY=1048;nhomalt_asj_XY=0;AC_asj=3;AF_asj=0.00131694;AN_asj=2278;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=814;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=894;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1708;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1510;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5004;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6514;nhomalt_fin=0;AC_mid_XX=1;AF_mid_XX=0.0102041;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=1;AF_mid_XY=0.0100000;AN_mid_XY=100;nhomalt_mid_XY=0;AC_mid=2;AF_mid=0.0101010;AN_mid=198;nhomalt_mid=0;AC_nfe_XX=8;AF_nfe_XX=0.000293794;AN_nfe_XX=27230;nhomalt_nfe_XX=0;AC_nfe_XY=9;AF_nfe_XY=0.000473585;AN_nfe_XY=19004;nhomalt_nfe_XY=0;AC_nfe=17;AF_nfe=0.000367695;AN_nfe=46234;nhomalt_nfe=0;AC_raw=835;AF_raw=0.00586863;AN_raw=142282;nhomalt_raw=123;AC_remaining_XX=3;AF_remaining_XX=0.00551471;AN_remaining_XX=544;nhomalt_remaining_XX=0;AC_remaining_XY=1;AF_remaining_XY=0.00177305;AN_remaining_XY=564;nhomalt_remaining_XY=0;AC_remaining=4;AF_remaining=0.00361011;AN_remaining=1108;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=622;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1758;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2380;nhomalt_sas=0;AC_grpmax=463;AF_grpmax=0.0282593;AN_grpmax=16384;nhomalt_grpmax=38;faf95=0.00570920;faf95_afr=0.0261335;faf95_amr=0.00364099;faf95_eas=0.00000;faf95_nfe=0.000234010;faf95_sas=0.00000;faf99=0.00553819;faf99_afr=0.0252933;faf99_amr=0.00325295;faf99_eas=0.00000;faf99_nfe=0.000191990;faf99_sas=0.00000;fafmax_faf99_max=0.0252933;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=3|20|9|23|17|21|18|7|7|4;age_hist_het_n_smaller=53;age_hist_het_n_larger=3;age_hist_hom_bin_freq=0|3|0|0|0|3|3|2|0|0;age_hist_hom_n_smaller=5;age_hist_hom_n_larger=0;FS=10.7981;MQ=32.8197;MQRankSum=0.365000;QUALapprox=408966;QD=19.4339;ReadPosRankSum=0.0220000;SOR=1.14000;VarDP=21044;AS_FS=10.7981;AS_MQ=32.8197;AS_MQRankSum=0.365000;AS_pab_max=1.00000;AS_QUALapprox=408966;AS_QD=19.4339;AS_ReadPosRankSum=0.00000;AS_SB_TABLE=3309,2851|5850,9034;AS_SOR=1.14004;AS_VarDP=21044;inbreeding_coeff=0.290447;AS_culprit=AS_MQ;AS_VQSLOD=-3.75150;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|27|20|45|17|11|17|24|18|14|21|7|16|11|14|16|212;gq_hist_all_bin_freq=0|0|0|0|29022|8782|3775|1059|293|120|44|23|16|23|8|16|11|14|16|212;dp_hist_alt_bin_freq=0|0|234|154|71|22|8|0|1|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|15439|14717|7627|4270|1292|77|8|3|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|2|4|9|17|13|40|27|45|65|32|71|102|18|0|0;cadd_raw_score=0.286479;cadd_phred=4.13100;phylop=0.435000;VRS_Allele_IDs=ga4gh:VA.l-Ug7BkI3tdmUExzYlYVYMArBNomlLvf,ga4gh:VA.89jiIsvzBUDKnDA-qQ8fhwMATd_6KE-E;VRS_Starts=5030959,5030959;VRS_Ends=5030960,5030960;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1093T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1093T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1093T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1093T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1093T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1093T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1093T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1093T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1093T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030962	.	C	A	.	AS_VQSR	AC=1;AN=88300;AF=1.13250e-05;grpmax=sas;AC_XX=0;AF_XX=0.00000;AN_XX=46324;nhomalt_XX=0;AC_XY=1;AF_XY=2.38231e-05;AN_XY=41976;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=9378;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=7644;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=17022;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=342;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=328;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=670;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4266;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5320;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9586;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1246;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1046;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2292;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=848;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=936;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1784;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1518;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5096;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6614;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=100;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=100;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=200;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27428;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19154;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46582;nhomalt_nfe=0;AC_raw=1;AF_raw=6.99252e-06;AN_raw=143010;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=548;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=570;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1118;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=650;nhomalt_sas_XX=0;AC_sas_XY=1;AF_sas_XY=0.000561167;AN_sas_XY=1782;nhomalt_sas_XY=0;AC_sas=1;AF_sas=0.000411184;AN_sas=2432;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000411184;AN_grpmax=2432;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=31.3176;MQRankSum=0.538000;QUALapprox=543;QD=18.7241;ReadPosRankSum=0.807000;SOR=0.818000;VarDP=29;AS_FS=0.00000;AS_MQ=29.9333;AS_MQRankSum=0.538000;AS_pab_max=0.0212708;AS_QUALapprox=507;AS_QD=31.6875;AS_ReadPosRankSum=0.807000;AS_SB_TABLE=7,7|6,7;AS_SOR=0.835568;AS_VarDP=16;inbreeding_coeff=-6.99257e-06;AS_culprit=AS_MQ;AS_VQSLOD=-4.29260;allele_type=snv;n_alt_alleles=2;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|29502|9074|3949|1106|314|116|23|5|3|2|1|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|15919|14861|7661|4266|1298|80|7|3|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0;cadd_raw_score=0.0909260;cadd_phred=2.01100;phylop=-0.211000;VRS_Allele_IDs=ga4gh:VA.vuFbFWPmQN6HXqdsMVwH_UewxplAma9B,ga4gh:VA.1QHQ1oDsS1cl-XU7n6k62tDcsILF2PbG;VRS_Starts=5030961,5030961;VRS_Ends=5030962,5030962;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1091C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1091C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1091C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1091C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1091C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1091C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1091C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1091C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1091C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030963	.	T	C	.	AC0	AC=0;AN=87554;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=46014;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=41540;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=9264;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=7478;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=16742;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=346;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=328;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=674;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4220;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5280;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9500;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1226;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1044;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2270;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=828;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=900;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1728;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1512;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5072;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6584;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=104;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=102;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=206;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27336;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19042;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46378;nhomalt_nfe=0;AC_raw=1;AF_raw=7.02454e-06;AN_raw=142358;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=536;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=558;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1094;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=642;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1736;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2378;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=18.5431;MQ=28.2135;MQRankSum=1.02600;QUALapprox=66;QD=5.07692;ReadPosRankSum=0.00000;SOR=1.38900;VarDP=13;AS_FS=18.5431;AS_MQ=28.2135;AS_MQRankSum=1.02600;AS_pab_max=1.00000;AS_QUALapprox=66;AS_QD=5.07692;AS_ReadPosRankSum=0.00000;AS_SB_TABLE=9,0|1,3;AS_SOR=1.38879;AS_VarDP=13;inbreeding_coeff=-7.02459e-06;AS_culprit=AS_MQ;AS_VQSLOD=-2.36690;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|29415|8986|3833|1096|305|109|22|5|3|2|1|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|15684|14804|7639|4260|1299|80|7|3|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0900600;cadd_phred=2.00400;phylop=-0.394000;VRS_Allele_IDs=ga4gh:VA.hLAHn4tsfRPZFfvsDqpq9EdkiM69hLn5,ga4gh:VA.s9zcDlT727roZ9Z-zbTfV5LYeEXEl3DQ;VRS_Starts=5030962,5030962;VRS_Ends=5030963,5030963;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1090T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1090T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1090T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1090T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1090T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1090T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1090T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1090T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1090T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030965	rs1987118714	G	A	.	AC0;AS_VQSR	AC=0;AN=88814;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=46662;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=42152;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=9582;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=7736;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=17318;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=352;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=340;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=692;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4268;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5316;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9584;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1238;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1044;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2282;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=864;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=944;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1808;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1526;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5124;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6650;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=106;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=104;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=210;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27528;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19192;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46720;nhomalt_nfe=0;AC_raw=2;AF_raw=1.39702e-05;AN_raw=143162;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=540;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=560;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1100;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=658;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1792;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2450;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=2.34518;MQ=34.7859;MQRankSum=0.807000;QUALapprox=110;QD=6.11111;ReadPosRankSum=-0.269000;SOR=0.211000;VarDP=18;AS_FS=10.2119;AS_MQ=27.0000;AS_QUALapprox=64;AS_QD=32.0000;AS_SB_TABLE=3,10|2,0;AS_SOR=2.21181;AS_VarDP=2;inbreeding_coeff=1.00000;AS_culprit=AS_SOR;AS_VQSLOD=-6.55120;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|29742|9157|3941|1116|309|111|20|5|3|2|1|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|16163|14956|7640|4256|1301|80|7|3|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0426490;cadd_phred=1.09100;phylop=0.548000;VRS_Allele_IDs=ga4gh:VA.McwDcS7lh--0yHxOkCFAcs-f60TL03JC,ga4gh:VA.0Jr_gFD_ZhOYhkeAOpipHXdYCMgmUMBB;VRS_Starts=5030964,5030964;VRS_Ends=5030965,5030965;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1088G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1088G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1088G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1088G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1088G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1088G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1088G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1088G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1088G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030970	rs1232265720	G	A	.	AS_VQSR	AC=2;AN=89950;AF=2.22346e-05;AC_XX=0;AF_XX=0.00000;AN_XX=47244;nhomalt_XX=0;AC_XY=2;AF_XY=4.68318e-05;AN_XY=42706;nhomalt_XY=1;nhomalt=1;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=9826;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=7990;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=17816;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=350;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=340;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=690;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4314;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5360;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9674;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1254;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1060;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2314;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=910;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=990;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1900;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1538;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5178;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6716;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=110;nhomalt_mid_XX=0;AC_mid_XY=2;AF_mid_XY=0.0192308;AN_mid_XY=104;nhomalt_mid_XY=1;AC_mid=2;AF_mid=0.00934579;AN_mid=214;nhomalt_mid=1;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27714;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19280;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46994;nhomalt_nfe=0;AC_raw=2;AF_raw=1.38767e-05;AN_raw=144126;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=548;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=568;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1116;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=680;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1836;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2516;nhomalt_sas=0;faf95=3.69000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=1.38000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=32.4061;QUALapprox=348;QD=29.0000;SOR=1.02200;VarDP=12;AS_FS=.;AS_MQ=32.4061;AS_QUALapprox=348;AS_QD=29.0000;AS_SB_TABLE=0,0|5,7;AS_SOR=1.02165;AS_VarDP=12;inbreeding_coeff=1.00000;AS_culprit=AS_MQ;AS_VQSLOD=-3.17800;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|30125|9269|4019|1109|319|101|19|5|5|2|1|1|0|0|0|0;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|16644|15063|7633|4247|1298|79|7|3|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.135529;cadd_phred=2.42800;phylop=0.548000;VRS_Allele_IDs=ga4gh:VA.uxXMtlM2DdLDpf_Yj8b8rG-CRf3OuVKq,ga4gh:VA.p2U3w8oGtl8MPnj0m1X6tV8QmGJ5luUZ;VRS_Starts=5030969,5030969;VRS_Ends=5030970,5030970;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1083G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1083G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1083G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1083G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1083G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1083G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1083G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1083G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1083G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030972	rs1202148217	C	T	.	AS_VQSR	AC=1;AN=89592;AF=1.11617e-05;grpmax=eas;AC_XX=1;AF_XX=2.12811e-05;AN_XX=46990;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=42602;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=9804;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=8042;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=17846;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=344;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=338;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=682;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4290;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5334;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9624;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1246;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1060;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2306;nhomalt_asj=0;AC_eas_XX=1;AF_eas_XX=0.00112108;AN_eas_XX=892;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=984;nhomalt_eas_XY=0;AC_eas=1;AF_eas=0.000533049;AN_eas=1876;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1538;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5130;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6668;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=100;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=102;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=202;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27556;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19218;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46774;nhomalt_nfe=0;AC_raw=3;AF_raw=2.08989e-05;AN_raw=143548;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=552;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=568;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1120;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=668;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1826;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2494;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000533049;AN_grpmax=1876;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.794471;MQ=30.2787;MQRankSum=0.572000;QUALapprox=1092;QD=12.2697;ReadPosRankSum=-0.415000;SOR=0.828000;VarDP=89;AS_FS=2.98708;AS_MQ=26.7264;AS_MQRankSum=0.572000;AS_pab_max=1.00000;AS_QUALapprox=259;AS_QD=8.63333;AS_ReadPosRankSum=-0.572000;AS_SB_TABLE=21,23|7,4;AS_SOR=1.22386;AS_VarDP=30;inbreeding_coeff=-2.08994e-05;AS_culprit=AS_MQ;AS_VQSLOD=-4.29290;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|30144|9204|3898|1065|304|96|21|5|4|2|1|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|16512|15004|7609|4234|1296|78|8|3|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0356480;cadd_phred=1.12800;phylop=-1.65600;VRS_Allele_IDs=ga4gh:VA.C3-8Qp977eDwvp-xeyjKx7CmD-0-N7Qb,ga4gh:VA.edHMenwsGWn_L9V5EJ-xOk7xtXL3quEO;VRS_Starts=5030971,5030971;VRS_Ends=5030972,5030972;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1081C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1081C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1081C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1081C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1081C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1081C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1081C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1081C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1081C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030973	rs1458966767	G	A	.	AS_VQSR	AC=4;AN=90782;AF=4.40616e-05;grpmax=eas;fafmax_faf95_max=0.000426450;fafmax_faf95_max_gen_anc=eas;AC_XX=2;AF_XX=4.19886e-05;AN_XX=47632;nhomalt_XX=0;AC_XY=2;AF_XY=4.63499e-05;AN_XY=43150;nhomalt_XY=0;nhomalt=0;AC_afr_XX=1;AF_afr_XX=9.95223e-05;AN_afr_XX=10048;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=8224;nhomalt_afr_XY=0;AC_afr=1;AF_afr=5.47285e-05;AN_afr=18272;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=350;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=342;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=692;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4342;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5396;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9738;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1248;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1072;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2320;nhomalt_asj=0;AC_eas_XX=1;AF_eas_XX=0.00109649;AN_eas_XX=912;nhomalt_eas_XX=0;AC_eas_XY=2;AF_eas_XY=0.00199601;AN_eas_XY=1002;nhomalt_eas_XY=0;AC_eas=3;AF_eas=0.00156740;AN_eas=1914;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1538;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5154;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6692;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=102;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=200;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27866;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19416;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=47282;nhomalt_nfe=0;AC_raw=7;AF_raw=4.85067e-05;AN_raw=144310;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=562;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=586;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1148;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=668;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1856;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2524;nhomalt_sas=0;AC_grpmax=3;AF_grpmax=0.00156740;AN_grpmax=1914;nhomalt_grpmax=0;faf95=1.42900e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.000426450;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=8.93000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.000227730;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=0.000227730;fafmax_faf99_max_gen_anc=eas;age_hist_het_bin_freq=0|0|0|0|0|0|0|1|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=7.11582;MQ=30.1114;MQRankSum=-0.0270000;QUALapprox=3072;QD=12.1905;ReadPosRankSum=-0.457000;SOR=1.09500;VarDP=252;AS_FS=7.11582;AS_MQ=30.1114;AS_MQRankSum=-0.0270000;AS_pab_max=1.00000;AS_QUALapprox=3072;AS_QD=12.1905;AS_ReadPosRankSum=-0.457000;AS_SB_TABLE=54,77|40,81;AS_SOR=1.09488;AS_VarDP=252;inbreeding_coeff=-4.85090e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.74530;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|4;gq_hist_all_bin_freq=0|0|0|0|30461|9332|4006|1081|316|106|20|6|4|2|1|0|0|0|0|4;dp_hist_alt_bin_freq=0|0|3|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|16976|15138|7604|4235|1296|78|8|3|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|1|0|1|2|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0438060;cadd_phred=1.08500;phylop=-0.868000;VRS_Allele_IDs=ga4gh:VA.mZoOgziZfbhCcignTmzARcrD0wC0phQs,ga4gh:VA.XcjmiLIzTQlgoHaMTEMHh10aHly4UEI4;VRS_Starts=5030972,5030972;VRS_Ends=5030973,5030973;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1080G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1080G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1080G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1080G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1080G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1080G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1080G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1080G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1080G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030979	rs1258291703	G	A	.	AC0;AS_VQSR	AC=0;AN=92088;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=48372;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=43716;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=10370;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=8414;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=18784;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=362;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=346;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=708;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4384;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5464;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9848;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1262;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1082;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2344;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=958;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1042;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2000;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1564;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5230;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6794;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=112;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=102;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=214;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=28102;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19556;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=47658;nhomalt_nfe=0;AC_raw=2;AF_raw=1.37646e-05;AN_raw=145300;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=556;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=578;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1134;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=702;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1902;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2604;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;MQ=27.0000;QUALapprox=95;QD=31.6667;SOR=2.83300;VarDP=3;AS_MQ=27.0000;AS_QUALapprox=95;AS_QD=31.6667;AS_SB_TABLE=0,0|3,0;AS_SOR=2.83321;AS_VarDP=3;inbreeding_coeff=1.00000;AS_culprit=AS_SOR;AS_VQSLOD=-7.71990;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|30840|9439|4176|1110|320|118|27|6|5|2|1|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|17557|15326|7578|4205|1289|77|9|2|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0460170;cadd_phred=1.07300;phylop=-0.291000;VRS_Allele_IDs=ga4gh:VA.jmGvPML3GNq2hcNN7-BHPlkJm_CetB52,ga4gh:VA.R1zg8Xhmqobr3dRfJEtEAQAdWhuqqKDv;VRS_Starts=5030978,5030978;VRS_Ends=5030979,5030979;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1074G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1074G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1074G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1074G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1074G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1074G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1074G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1074G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1074G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030985	rs1212761393	C	T	.	AS_VQSR	AC=7;AN=92804;AF=7.54278e-05;grpmax=nfe;fafmax_faf95_max=4.02800e-05;fafmax_faf95_max_gen_anc=nfe;AC_XX=5;AF_XX=0.000102619;AN_XX=48724;nhomalt_XX=1;AC_XY=2;AF_XY=4.53721e-05;AN_XY=44080;nhomalt_XY=0;nhomalt=1;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=10624;nhomalt_afr_XX=0;AC_afr_XY=2;AF_afr_XY=0.000232342;AN_afr_XY=8608;nhomalt_afr_XY=0;AC_afr=2;AF_afr=0.000103993;AN_afr=19232;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=364;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=350;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=714;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4392;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5482;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9874;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1264;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1096;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2360;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=958;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1060;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2018;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1556;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5270;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6826;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=110;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=106;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=216;nhomalt_mid=0;AC_nfe_XX=5;AF_nfe_XX=0.000177305;AN_nfe_XX=28200;nhomalt_nfe_XX=1;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19626;nhomalt_nfe_XY=0;AC_nfe=5;AF_nfe=0.000104546;AN_nfe=47826;nhomalt_nfe=1;AC_raw=14;AF_raw=9.64134e-05;AN_raw=145208;nhomalt_raw=4;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=566;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=588;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1154;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=690;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1894;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2584;nhomalt_sas=0;AC_grpmax=5;AF_grpmax=0.000104546;AN_grpmax=47826;nhomalt_grpmax=1;faf95=3.52800e-05;faf95_afr=1.81900e-05;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=4.02800e-05;faf95_sas=0.00000;faf99=2.51000e-05;faf99_afr=7.42000e-06;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=2.61400e-05;faf99_sas=0.00000;fafmax_faf99_max=2.61400e-05;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|0|0|0|1|1|1;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|1|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=7.01853;MQ=31.0497;MQRankSum=0.318000;QUALapprox=9633;QD=18.5250;ReadPosRankSum=0.382000;SOR=1.23000;VarDP=520;AS_FS=7.01853;AS_MQ=31.0497;AS_MQRankSum=0.318000;AS_pab_max=1.00000;AS_QUALapprox=9633;AS_QD=18.5250;AS_ReadPosRankSum=0.382000;AS_SB_TABLE=69,97|111,243;AS_SOR=1.23008;AS_VarDP=520;inbreeding_coeff=0.571387;AS_culprit=AS_MQ;AS_VQSLOD=-3.56990;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|1|0|0|0|0|1|0|0|0|0|0|0|4;gq_hist_all_bin_freq=0|0|0|0|31087|9557|4228|1080|309|98|26|5|5|2|1|0|0|0|0|4;dp_hist_alt_bin_freq=0|0|2|1|2|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|17979|15331|7529|4185|1291|76|9|2|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|1|0|1|0|1|1|1|0|0|0|0|0;cadd_raw_score=-0.0518700;cadd_phred=1.04400;phylop=-1.00900;VRS_Allele_IDs=ga4gh:VA.1w6PgEaJCo6mZggh4neRXwDMnYKsn-4s,ga4gh:VA.IDgHpyH3TJzbapopNLLA7aVaZoof3iJD;VRS_Starts=5030984,5030984;VRS_Ends=5030985,5030985;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1068C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1068C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1068C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1068C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1068C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1068C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1068C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1068C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1068C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030986	rs1332234209	T	C	.	AS_VQSR	AC=2;AN=92586;AF=2.16015e-05;grpmax=nfe;fafmax_faf95_max=6.94000e-06;fafmax_faf95_max_gen_anc=nfe;AC_XX=0;AF_XX=0.00000;AN_XX=48654;nhomalt_XX=0;AC_XY=2;AF_XY=4.55249e-05;AN_XY=43932;nhomalt_XY=1;nhomalt=1;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=10648;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=8576;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=19224;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=364;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=346;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=710;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4386;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5444;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9830;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1254;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1096;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2350;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=952;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1048;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2000;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1550;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5240;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6790;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=114;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=104;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=218;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=28148;nhomalt_nfe_XX=0;AC_nfe_XY=2;AF_nfe_XY=0.000101978;AN_nfe_XY=19612;nhomalt_nfe_XY=1;AC_nfe=2;AF_nfe=4.18760e-05;AN_nfe=47760;nhomalt_nfe=1;AC_raw=2;AF_raw=1.37935e-05;AN_raw=144996;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=554;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=592;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1146;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=684;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1874;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2558;nhomalt_sas=0;AC_grpmax=2;AF_grpmax=4.18760e-05;AN_grpmax=47760;nhomalt_grpmax=1;faf95=3.59000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=6.94000e-06;faf95_sas=0.00000;faf99=1.34000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=2.60000e-06;faf99_sas=0.00000;fafmax_faf99_max=2.60000e-06;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=3.52183;MQ=29.8291;MQRankSum=1.54200;QUALapprox=472;QD=26.2222;ReadPosRankSum=-0.771000;SOR=0.761000;VarDP=18;AS_FS=3.52183;AS_MQ=29.8291;AS_MQRankSum=1.54200;AS_QUALapprox=472;AS_QD=26.2222;AS_ReadPosRankSum=-0.771000;AS_SB_TABLE=1,0|7,10;AS_SOR=0.761098;AS_VarDP=18;inbreeding_coeff=1.00000;AS_culprit=AS_MQ;AS_VQSLOD=-5.48860;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|31079|9521|4175|1076|313|95|23|5|3|2|1|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|17908|15304|7523|4185|1287|76|8|2|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.254893;cadd_phred=3.76200;phylop=0.435000;VRS_Allele_IDs=ga4gh:VA.KrDAAMeom2OPKJhYRhF0ba0hf43X_KHQ,ga4gh:VA.ScjQDhiZl2ruN2WVAa3rKao1z5gIbTor;VRS_Starts=5030985,5030985;VRS_Ends=5030986,5030986;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1067T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1067T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1067T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1067T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1067T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1067T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1067T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1067T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1067T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030989	rs1291339987	T	C	.	AC0;AS_VQSR	AC=0;AN=92966;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=48752;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=44214;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=10742;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=8674;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=19416;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=366;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=352;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=718;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4366;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5490;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9856;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1272;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1106;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2378;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=976;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1084;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2060;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1554;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5266;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6820;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=110;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=106;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=216;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=28128;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19642;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=47770;nhomalt_nfe=0;AC_raw=1;AF_raw=6.88696e-06;AN_raw=145202;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=554;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=584;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1138;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=684;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1910;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2594;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=9.70037;MQ=27.0000;MQRankSum=-0.684000;QUALapprox=71;QD=8.87500;ReadPosRankSum=0.322000;SOR=0.823000;VarDP=8;AS_FS=9.70037;AS_MQ=27.0000;AS_MQRankSum=-0.684000;AS_pab_max=0.726563;AS_QUALapprox=71;AS_QD=8.87500;AS_ReadPosRankSum=0.322000;AS_SB_TABLE=5,0|1,2;AS_SOR=0.823200;AS_VarDP=8;inbreeding_coeff=-6.88700e-06;AS_culprit=AS_MQ;AS_VQSLOD=-3.43240;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|31168|9516|4269|1080|315|99|24|5|4|2|1|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18087|15330|7510|4180|1289|77|8|2|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.259581;cadd_phred=3.81700;phylop=-0.339000;VRS_Allele_IDs=ga4gh:VA.wgzyPQ04vvnrnbYlfej4qTNF2qUy2NyP,ga4gh:VA.RrEKa1aMfr2RCu1uLsFVuFUM8ZbqPO_I;VRS_Starts=5030988,5030988;VRS_Ends=5030989,5030989;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1064T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1064T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1064T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1064T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1064T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1064T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1064T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1064T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1064T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030994	rs1228423614	C	T	.	AS_VQSR	AC=1;AN=93852;AF=1.06551e-05;AC_XX=0;AF_XX=0.00000;AN_XX=49372;nhomalt_XX=0;AC_XY=1;AF_XY=2.24820e-05;AN_XY=44480;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=11006;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=8840;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=19846;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=366;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=356;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=722;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4394;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5470;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9864;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1278;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1106;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2384;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=990;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1104;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2094;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1582;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5264;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6846;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=112;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=106;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=218;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=28366;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19726;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=48092;nhomalt_nfe=0;AC_raw=2;AF_raw=1.37370e-05;AN_raw=145592;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=566;nhomalt_remaining_XX=0;AC_remaining_XY=1;AF_remaining_XY=0.00167785;AN_remaining_XY=596;nhomalt_remaining_XY=0;AC_remaining=1;AF_remaining=0.000860585;AN_remaining=1162;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=712;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1912;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2624;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|1|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=5.16700;MQ=27.8817;MQRankSum=0.546000;QUALapprox=139;QD=8.17647;ReadPosRankSum=-0.546000;SOR=2.27600;VarDP=17;AS_FS=5.16700;AS_MQ=27.8817;AS_MQRankSum=0.546000;AS_pab_max=1.00000;AS_QUALapprox=139;AS_QD=8.17647;AS_ReadPosRankSum=-0.546000;AS_SB_TABLE=5,6|5,1;AS_SOR=2.27570;AS_VarDP=17;inbreeding_coeff=-1.37372e-05;AS_culprit=AS_SOR;AS_VQSLOD=-5.33040;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|31398|9680|4299|1086|325|101|24|6|3|3|1|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18451|15440|7495|4170|1284|76|8|2|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.124690;cadd_phred=2.32100;phylop=0.553000;VRS_Allele_IDs=ga4gh:VA.6BKzGe-vC52XWPtcch5fLGZ8kUPCkYTA,ga4gh:VA.WXM9Kv6xXwvQYVtQzwYjPzUkPKSTYIv5;VRS_Starts=5030993,5030993;VRS_Ends=5030994,5030994;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1059C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1059C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1059C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1059C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1059C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1059C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1059C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1059C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1059C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5030998	rs1987119296	G	T	.	AC0;AS_VQSR	AC=0;AN=94276;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=49582;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=44694;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=11122;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=8946;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=20068;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=358;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=356;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=714;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4410;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5544;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9954;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1280;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1088;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2368;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=984;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1102;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2086;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1576;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5298;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6874;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=112;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=106;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=218;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=28464;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19750;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=48214;nhomalt_nfe=0;AC_raw=1;AF_raw=6.85279e-06;AN_raw=145926;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=566;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=590;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1156;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=710;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1914;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2624;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=4.77121;MQ=27.0000;MQRankSum=0.751000;QUALapprox=227;QD=25.2222;ReadPosRankSum=0.751000;SOR=1.73900;VarDP=9;AS_FS=4.77121;AS_MQ=27.0000;AS_MQRankSum=0.751000;AS_pab_max=0.0390625;AS_QUALapprox=227;AS_QD=25.2222;AS_ReadPosRankSum=0.751000;AS_SB_TABLE=1,0|2,6;AS_SOR=1.73949;AS_VarDP=9;inbreeding_coeff=-6.85284e-06;AS_culprit=AS_MQ;AS_VQSLOD=-5.18370;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|31423|9731|4385|1135|324|106|23|5|3|2|1|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18669|15460|7487|4156|1280|76|8|2|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0584390;cadd_phred=1.74400;phylop=-0.217000;VRS_Allele_IDs=ga4gh:VA.rhu6S7aA-xNKKy2GjHJssLI_JKBF_rKQ,ga4gh:VA.qTXLJra47tJxSewRAEMUYt2ZdjbfAG1F;VRS_Starts=5030997,5030997;VRS_Ends=5030998,5030998;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1055G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1055G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1055G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1055G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1055G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1055G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1055G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1055G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1055G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031004	rs1380485929	C	G	.	AS_VQSR	AC=14;AN=94170;AF=0.000148667;grpmax=sas;fafmax_faf95_max=6.82500e-05;fafmax_faf95_max_gen_anc=nfe;AC_XX=4;AF_XX=8.07005e-05;AN_XX=49566;nhomalt_XX=0;AC_XY=10;AF_XY=0.000224195;AN_XY=44604;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=11218;nhomalt_afr_XX=0;AC_afr_XY=4;AF_afr_XY=0.000440432;AN_afr_XY=9082;nhomalt_afr_XY=0;AC_afr=4;AF_afr=0.000197044;AN_afr=20300;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=356;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=348;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=704;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4402;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5528;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9930;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1290;nhomalt_asj_XX=0;AC_asj_XY=1;AF_asj_XY=0.000924214;AN_asj_XY=1082;nhomalt_asj_XY=0;AC_asj=1;AF_asj=0.000421585;AN_asj=2372;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1000;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1124;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2124;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1554;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5106;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6660;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=102;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=200;nhomalt_mid=0;AC_nfe_XX=3;AF_nfe_XX=0.000105678;AN_nfe_XX=28388;nhomalt_nfe_XX=0;AC_nfe_XY=4;AF_nfe_XY=0.000202758;AN_nfe_XY=19728;nhomalt_nfe_XY=0;AC_nfe=7;AF_nfe=0.000145482;AN_nfe=48116;nhomalt_nfe=0;AC_raw=24;AF_raw=0.000164994;AN_raw=145460;nhomalt_raw=2;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=574;nhomalt_remaining_XX=0;AC_remaining_XY=1;AF_remaining_XY=0.00167785;AN_remaining_XY=596;nhomalt_remaining_XY=0;AC_remaining=1;AF_remaining=0.000854701;AN_remaining=1170;nhomalt_remaining=0;AC_sas_XX=1;AF_sas_XX=0.00145773;AN_sas_XX=686;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1908;nhomalt_sas_XY=0;AC_sas=1;AF_sas=0.000385505;AN_sas=2594;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000385505;AN_grpmax=2594;nhomalt_grpmax=0;faf95=8.90300e-05;faf95_afr=6.68100e-05;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=6.82500e-05;faf95_sas=0.00000;faf99=7.12300e-05;faf99_afr=3.98200e-05;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=4.76800e-05;faf99_sas=0.00000;fafmax_faf99_max=4.76800e-05;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|1|1|1|0|0|1|1|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.44649e-15;MQ=28.8566;MQRankSum=0.00000;QUALapprox=14962;QD=14.3589;ReadPosRankSum=0.358000;SOR=0.701000;VarDP=1042;AS_FS=1.44649e-15;AS_MQ=28.8882;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=14392;AS_QD=14.2495;AS_ReadPosRankSum=0.380000;AS_SB_TABLE=208,260|245,308;AS_SOR=0.698988;AS_VarDP=1010;inbreeding_coeff=0.166529;AS_culprit=AS_MQ;AS_VQSLOD=-3.66480;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|1|1|0|2|8;gq_hist_all_bin_freq=0|0|0|0|31416|9712|4310|1112|319|104|23|5|3|3|2|1|1|0|2|9;dp_hist_alt_bin_freq=0|0|7|2|4|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18724|15396|7418|4133|1266|76|7|2|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|1|1|1|5|0|1|0|2|1|0|0|1|0|0|0;cadd_raw_score=-0.511049;cadd_phred=0.113000;phylop=-2.64400;VRS_Allele_IDs=ga4gh:VA.fX8TyXDvrCU49XeOqzvmxnjSp2IvOT_p,ga4gh:VA.EQFHC1xSodCAIOBqk6M1VowTZRx0biMQ;VRS_Starts=5031003,5031003;VRS_Ends=5031004,5031004;VRS_States=C,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1049C>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1049C>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1049C>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1049C>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1049C>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1049C>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1049C>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1049C>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1049C>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031004	rs1380485929	C	T	.	AS_VQSR	AC=1;AN=94044;AF=1.06333e-05;grpmax=amr;AC_XX=0;AF_XX=0.00000;AN_XX=49560;nhomalt_XX=0;AC_XY=1;AF_XY=2.24800e-05;AN_XY=44484;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=11200;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=8996;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=20196;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=356;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=348;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=704;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4398;nhomalt_amr_XX=0;AC_amr_XY=1;AF_amr_XY=0.000181291;AN_amr_XY=5516;nhomalt_amr_XY=0;AC_amr=1;AF_amr=0.000100867;AN_amr=9914;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1290;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1082;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2372;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1006;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1122;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2128;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1554;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5106;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6660;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=108;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=104;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=212;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=28394;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19726;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=48120;nhomalt_nfe=0;AC_raw=2;AF_raw=1.37605e-05;AN_raw=145344;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=562;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=586;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1148;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=692;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1898;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2590;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000100867;AN_grpmax=9914;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.44649e-15;MQ=28.8566;MQRankSum=0.00000;QUALapprox=14962;QD=14.3589;ReadPosRankSum=0.358000;SOR=0.701000;VarDP=1042;AS_FS=4.82164e-16;AS_MQ=27.8613;AS_MQRankSum=0.0990000;AS_pab_max=0.774414;AS_QUALapprox=570;AS_QD=17.8125;AS_ReadPosRankSum=0.198000;AS_SB_TABLE=208,260|9,12;AS_SOR=0.734132;AS_VarDP=32;inbreeding_coeff=-1.37606e-05;AS_culprit=AS_MQ;AS_VQSLOD=-4.16570;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|31416|9712|4310|1112|319|104|23|5|3|3|2|1|1|0|2|9;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18724|15396|7418|4133|1266|76|7|2|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.468776;cadd_phred=0.138000;phylop=-2.64400;VRS_Allele_IDs=ga4gh:VA.fX8TyXDvrCU49XeOqzvmxnjSp2IvOT_p,ga4gh:VA.v3FWtalhDsgsB_KarVUcp1XRlvkPGJDr;VRS_Starts=5031003,5031003;VRS_Ends=5031004,5031004;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1049C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1049C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1049C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1049C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1049C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1049C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1049C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1049C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1049C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031005	rs1445008851	G	A	.	AS_VQSR	AC=11;AN=95052;AF=0.000115726;grpmax=sas;fafmax_faf95_max=0.000133820;fafmax_faf95_max_gen_anc=sas;AC_XX=9;AF_XX=0.000179971;AN_XX=50008;nhomalt_XX=0;AC_XY=2;AF_XY=4.44010e-05;AN_XY=45044;nhomalt_XY=0;nhomalt=0;AC_afr_XX=4;AF_afr_XX=0.000350754;AN_afr_XX=11404;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=9158;nhomalt_afr_XY=0;AC_afr=4;AF_afr=0.000194534;AN_afr=20562;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=360;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=362;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=722;nhomalt_ami=0;AC_amr_XX=2;AF_amr_XX=0.000451875;AN_amr_XX=4426;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5566;nhomalt_amr_XY=0;AC_amr=2;AF_amr=0.000200160;AN_amr=9992;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1296;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1092;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2388;nhomalt_asj=0;AC_eas_XX=1;AF_eas_XX=0.000950570;AN_eas_XX=1052;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1144;nhomalt_eas_XY=0;AC_eas=1;AF_eas=0.000455373;AN_eas=2196;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1556;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5250;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6806;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=112;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=102;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=214;nhomalt_mid=0;AC_nfe_XX=2;AF_nfe_XX=7.01361e-05;AN_nfe_XX=28516;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19848;nhomalt_nfe_XY=0;AC_nfe=2;AF_nfe=4.13531e-05;AN_nfe=48364;nhomalt_nfe=0;AC_raw=18;AF_raw=0.000123158;AN_raw=146154;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=568;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=586;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1154;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=718;nhomalt_sas_XX=0;AC_sas_XY=2;AF_sas_XY=0.00103306;AN_sas_XY=1936;nhomalt_sas_XY=0;AC_sas=2;AF_sas=0.000753580;AN_sas=2654;nhomalt_sas=0;AC_grpmax=2;AF_grpmax=0.000753580;AN_grpmax=2654;nhomalt_grpmax=0;faf95=6.39300e-05;faf95_afr=6.62300e-05;faf95_amr=3.49800e-05;faf95_eas=0.00000;faf95_nfe=6.86000e-06;faf95_sas=0.000133820;faf99=4.92200e-05;faf99_afr=3.94300e-05;faf99_amr=1.43100e-05;faf99_eas=0.00000;faf99_nfe=2.57000e-06;faf99_sas=5.56400e-05;fafmax_faf99_max=5.56400e-05;fafmax_faf99_max_gen_anc=sas;age_hist_het_bin_freq=0|2|0|0|0|0|1|0|0|0;age_hist_het_n_smaller=1;age_hist_het_n_larger=1;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=4.23859;MQ=28.6685;MQRankSum=0.0870000;QUALapprox=15065;QD=16.0266;ReadPosRankSum=0.529000;SOR=0.985000;VarDP=940;AS_FS=6.25722;AS_MQ=28.1484;AS_MQRankSum=0.101000;AS_pab_max=1.00000;AS_QUALapprox=5393;AS_QD=10.5953;AS_ReadPosRankSum=0.715000;AS_SB_TABLE=165,228|111,110;AS_SOR=0.434095;AS_VarDP=509;inbreeding_coeff=-0.000123173;AS_culprit=AS_MQ;AS_VQSLOD=-3.78640;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|1|0|0|0|2|0|2|1|0|1|4;gq_hist_all_bin_freq=0|0|0|0|31586|9817|4440|1165|338|121|31|8|3|5|1|2|1|0|1|7;dp_hist_alt_bin_freq=0|0|7|3|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|19092|15525|7420|4137|1266|77|7|2|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|2|0|1|2|1|1|1|0|1|1|0|0|0|0|0;cadd_raw_score=0.0683590;cadd_phred=1.82300;phylop=-2.80700;VRS_Allele_IDs=ga4gh:VA.K4Hv9zxdLYiK-N4etCvUWW4DYRW2sKld,ga4gh:VA.4nu9oOCQo9b7QypHzLHZWklZUY_6_27R;VRS_Starts=5031004,5031004;VRS_Ends=5031005,5031005;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1048G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1048G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1048G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1048G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1048G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1048G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1048G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1048G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1048G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031005	rs1445008851	G	C	.	AS_VQSR	AC=1;AN=95056;AF=1.05201e-05;grpmax=amr;AC_XX=1;AF_XX=1.99952e-05;AN_XX=50012;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=45044;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=11404;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=9158;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=20562;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=360;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=362;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=722;nhomalt_ami=0;AC_amr_XX=1;AF_amr_XX=0.000225836;AN_amr_XX=4428;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5566;nhomalt_amr_XY=0;AC_amr=1;AF_amr=0.000100060;AN_amr=9994;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1296;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1092;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2388;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1052;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1144;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2196;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1556;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5250;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6806;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=112;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=102;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=214;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=28518;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19848;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=48366;nhomalt_nfe=0;AC_raw=1;AF_raw=6.84210e-06;AN_raw=146154;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=568;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=586;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1154;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=718;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1936;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2654;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000100060;AN_grpmax=9994;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|1|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=4.23859;MQ=28.6685;MQRankSum=0.0870000;QUALapprox=15065;QD=16.0266;ReadPosRankSum=0.529000;SOR=0.985000;VarDP=940;AS_FS=7.04286;AS_MQ=29.9691;AS_MQRankSum=-0.134000;AS_pab_max=0.523467;AS_QUALapprox=1857;AS_QD=18.0291;AS_ReadPosRankSum=1.11500;AS_SB_TABLE=165,228|16,44;AS_SOR=1.54370;AS_VarDP=103;inbreeding_coeff=-6.84214e-06;AS_culprit=AS_MQ;AS_VQSLOD=-3.46260;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|31586|9817|4441|1166|338|121|31|8|3|5|1|2|1|0|1|7;dp_hist_alt_bin_freq=0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|19092|15525|7422|4137|1266|77|7|2|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0;cadd_raw_score=0.0316640;cadd_phred=1.54600;phylop=-2.80700;VRS_Allele_IDs=ga4gh:VA.K4Hv9zxdLYiK-N4etCvUWW4DYRW2sKld,ga4gh:VA.QNshH48K6OQq7GGL-FExVMXFFMRpJHqp;VRS_Starts=5031004,5031004;VRS_Ends=5031005,5031005;VRS_States=G,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1048G>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1048G>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1048G>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1048G>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1048G>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1048G>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1048G>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1048G>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1048G>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031005	rs1445008851	G	T	.	AS_VQSR	AC=8;AN=95056;AF=8.41609e-05;AC_XX=5;AF_XX=9.99760e-05;AN_XX=50012;nhomalt_XX=1;AC_XY=3;AF_XY=6.66015e-05;AN_XY=45044;nhomalt_XY=1;nhomalt=2;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=11404;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=9158;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=20562;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=360;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=362;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=722;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4428;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5566;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9994;nhomalt_amr=0;AC_asj_XX=5;AF_asj_XX=0.00385802;AN_asj_XX=1296;nhomalt_asj_XX=1;AC_asj_XY=3;AF_asj_XY=0.00274725;AN_asj_XY=1092;nhomalt_asj_XY=1;AC_asj=8;AF_asj=0.00335008;AN_asj=2388;nhomalt_asj=2;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1052;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1144;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2196;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1556;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5250;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6806;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=112;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=102;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=214;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=28518;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19848;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=48366;nhomalt_nfe=0;AC_raw=14;AF_raw=9.57894e-05;AN_raw=146154;nhomalt_raw=4;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=568;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=586;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1154;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=718;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1936;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2654;nhomalt_sas=0;faf95=4.11100e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=3.00700e-05;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|1|0|0|0|1;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=4.23859;MQ=28.6685;MQRankSum=0.0870000;QUALapprox=15065;QD=16.0266;ReadPosRankSum=0.529000;SOR=0.985000;VarDP=940;AS_FS=16.4904;AS_MQ=29.0535;AS_MQRankSum=0.0870000;AS_pab_max=1.00000;AS_QUALapprox=7815;AS_QD=23.8262;AS_ReadPosRankSum=0.109000;AS_SB_TABLE=165,228|69,197;AS_SOR=1.64946;AS_VarDP=328;inbreeding_coeff=0.571388;AS_culprit=AS_MQ;AS_VQSLOD=-5.29280;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|2|2|0|0|0|0|0|0|0|0|0|0|2;gq_hist_all_bin_freq=0|0|0|0|31586|9817|4441|1166|338|121|31|8|3|5|1|2|1|0|1|7;dp_hist_alt_bin_freq=0|0|3|0|3|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|19092|15525|7422|4137|1266|77|7|2|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|1|0|1|0|0|0|2|0|0|0;cadd_raw_score=0.0195060;cadd_phred=1.46200;phylop=-2.80700;VRS_Allele_IDs=ga4gh:VA.K4Hv9zxdLYiK-N4etCvUWW4DYRW2sKld,ga4gh:VA.4gdC-M7SKDjH0juFm1_p3oMYq_HUsMxW;VRS_Starts=5031004,5031004;VRS_Ends=5031005,5031005;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1048G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1048G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1048G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1048G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1048G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1048G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1048G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1048G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1048G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031011	rs1987119630	G	A	.	AC0;AS_VQSR	AC=0;AN=95544;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=50302;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=45242;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=11560;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=9254;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=20814;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=364;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=360;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=724;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4430;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5546;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9976;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1288;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1096;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2384;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1068;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1192;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2260;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1556;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5228;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6784;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=112;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=100;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=212;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=28626;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19936;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=48562;nhomalt_nfe=0;AC_raw=1;AF_raw=6.82380e-06;AN_raw=146546;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=570;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=588;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1158;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=728;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1942;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2670;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=26.8187;MQ=29.1097;MQRankSum=-1.06700;QUALapprox=93;QD=4.04348;ReadPosRankSum=0.00000;SOR=3.89400;VarDP=23;AS_FS=26.8187;AS_MQ=29.1097;AS_MQRankSum=-1.06700;AS_pab_max=0.289063;AS_QUALapprox=93;AS_QD=4.04348;AS_ReadPosRankSum=0.00000;AS_SB_TABLE=4,13|6,0;AS_SOR=3.89442;AS_VarDP=23;inbreeding_coeff=-6.82384e-06;AS_culprit=AS_SOR;AS_VQSLOD=-5.90540;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|31680|9923|4476|1186|329|125|34|9|6|3|1|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|19334|15567|7394|4135|1260|75|6|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0891550;cadd_phred=1.99600;phylop=-0.217000;VRS_Allele_IDs=ga4gh:VA.zziLxYtmhBXohe_HmTxrYzj95l8dEmbm,ga4gh:VA.vUgOsRy34loCr8i5slI01LPOxG6Jk4b5;VRS_Starts=5031010,5031010;VRS_Ends=5031011,5031011;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1042G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1042G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1042G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1042G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1042G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1042G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1042G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1042G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1042G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031012	rs1461067140	C	CGGTGACCT	.	AS_VQSR	AC=4;AN=94466;AF=4.23433e-05;grpmax=eas;AC_XX=2;AF_XX=4.01623e-05;AN_XX=49798;nhomalt_XX=0;AC_XY=2;AF_XY=4.47748e-05;AN_XY=44668;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=11418;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=9134;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=20552;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=362;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=360;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=722;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4354;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5498;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9852;nhomalt_amr=0;AC_asj_XX=1;AF_asj_XX=0.000770416;AN_asj_XX=1298;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1088;nhomalt_asj_XY=0;AC_asj=1;AF_asj=0.000419111;AN_asj=2386;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1030;nhomalt_eas_XX=0;AC_eas_XY=1;AF_eas_XY=0.000874126;AN_eas_XY=1144;nhomalt_eas_XY=0;AC_eas=1;AF_eas=0.000459982;AN_eas=2174;nhomalt_eas=0;AC_fin_XX=1;AF_fin_XX=0.000660502;AN_fin_XX=1514;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5106;nhomalt_fin_XY=0;AC_fin=1;AF_fin=0.000151057;AN_fin=6620;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=110;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=102;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=212;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=28466;nhomalt_nfe_XX=0;AC_nfe_XY=1;AF_nfe_XY=5.06329e-05;AN_nfe_XY=19750;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=2.07400e-05;AN_nfe=48216;nhomalt_nfe=0;AC_raw=4;AF_raw=2.74740e-05;AN_raw=145592;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=562;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=588;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1150;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=684;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1898;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2582;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000459982;AN_grpmax=2174;nhomalt_grpmax=0;faf95=1.38900e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=8.66000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|1|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=1;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=2.46983;MQ=28.5045;MQRankSum=-0.368000;QUALapprox=8721;QD=13.7339;ReadPosRankSum=-0.193000;SOR=0.517000;VarDP=635;AS_FS=115.257;AS_MQ=28.5189;AS_MQRankSum=-0.197000;AS_pab_max=0.607239;AS_QUALapprox=1205;AS_QD=13.2418;AS_ReadPosRankSum=-0.217000;AS_SB_TABLE=124,189|31,0;AS_SOR=6.93189;AS_VarDP=91;inbreeding_coeff=-2.74748e-05;AS_culprit=AS_FS;AS_VQSLOD=-69.2361;allele_type=ins;n_alt_alleles=2;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|4;gq_hist_all_bin_freq=0|0|0|0|31486|9822|4331|1115|314|111|27|6|2|3|1|0|0|1|0|14;dp_hist_alt_bin_freq=0|0|1|3|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|19023|15393|7356|4122|1261|72|5|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|1|0|0|1|0|0|0|0|0|0|1|0|0|0|0;cadd_raw_score=-0.0524920;cadd_phred=1.04100;phylop=0.553000;VRS_Allele_IDs=ga4gh:VA.UBPA4snVwZ5cmx9QmpEVAwMl_NDpCDgF,ga4gh:VA.gV6cTK-5b7_bSS39AJsoJ3BVga5iSOok;VRS_Starts=5031011,5031012;VRS_Ends=5031012,5031020;VRS_States=C,GGTGACCTGGTGACCT;vep=GGTGACCT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1040_698-1033dup|||||||1||1||insertion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,GGTGACCT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1040_347-1033dup|||||||1||1||insertion||||||5|||ENSP00000484302||Ensembl|||||||||||||,GGTGACCT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1040_347-1033dup|||||||1||1||insertion||||||2|||ENSP00000485649||Ensembl|||||||||||||,GGTGACCT|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1040_*312-1033dup|||||||1||1||insertion||||||2|||ENSP00000485557||Ensembl|||||||||||||,GGTGACCT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1040_698-1033dup|||||||1||1||insertion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,GGTGACCT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1040_698-1033dup|||||||1||1||insertion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,GGTGACCT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1040_698-1033dup|||||||1||1||insertion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,GGTGACCT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1040_698-1033dup|||||||1||1||insertion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,GGTGACCT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1040_698-1033dup|||||||1||1||insertion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031012	rs1348384669	C	T	.	AS_VQSR	AC=15;AN=94592;AF=0.000158576;grpmax=eas;fafmax_faf95_max=0.00151309;fafmax_faf95_max_gen_anc=eas;AC_XX=8;AF_XX=0.000160604;AN_XX=49812;nhomalt_XX=0;AC_XY=7;AF_XY=0.000156320;AN_XY=44780;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=11432;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=9218;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=20650;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=362;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=360;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=722;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4360;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5510;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9870;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1298;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1088;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2386;nhomalt_asj=0;AC_eas_XX=2;AF_eas_XX=0.00195313;AN_eas_XX=1024;nhomalt_eas_XX=0;AC_eas_XY=5;AF_eas_XY=0.00436300;AN_eas_XY=1146;nhomalt_eas_XY=0;AC_eas=7;AF_eas=0.00322581;AN_eas=2170;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1514;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5106;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6620;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=100;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=100;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=200;nhomalt_mid=0;AC_nfe_XX=6;AF_nfe_XX=0.000210807;AN_nfe_XX=28462;nhomalt_nfe_XX=0;AC_nfe_XY=2;AF_nfe_XY=0.000101266;AN_nfe_XY=19750;nhomalt_nfe_XY=0;AC_nfe=8;AF_nfe=0.000165934;AN_nfe=48212;nhomalt_nfe=0;AC_raw=26;AF_raw=0.000178442;AN_raw=145706;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=576;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=598;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1174;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=684;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1904;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2588;nhomalt_sas=0;AC_grpmax=7;AF_grpmax=0.00322581;AN_grpmax=2170;nhomalt_grpmax=0;faf95=9.69500e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00151309;faf95_nfe=8.20900e-05;faf95_sas=0.00000;faf99=7.82100e-05;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00107286;faf99_nfe=5.92900e-05;faf99_sas=0.00000;fafmax_faf99_max=0.00107286;fafmax_faf99_max_gen_anc=eas;age_hist_het_bin_freq=2|1|1|0|1|0|1|1|0|2;age_hist_het_n_smaller=0;age_hist_het_n_larger=1;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=2.46983;MQ=28.5045;MQRankSum=-0.368000;QUALapprox=8721;QD=13.7339;ReadPosRankSum=-0.193000;SOR=0.517000;VarDP=635;AS_FS=0.529519;AS_MQ=28.5017;AS_MQRankSum=-0.368000;AS_pab_max=1.00000;AS_QUALapprox=7516;AS_QD=13.8162;AS_ReadPosRankSum=-0.143000;AS_SB_TABLE=124,189|112,179;AS_SOR=0.741103;AS_VarDP=544;inbreeding_coeff=0.0767583;AS_culprit=AS_MQ;AS_VQSLOD=-3.96600;allele_type=snv;n_alt_alleles=2;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|2|0|1|0|0|0|0|1|0|0|0|0|0|1|0|10;gq_hist_all_bin_freq=0|0|0|0|31486|9822|4331|1115|314|111|27|6|2|3|1|0|0|1|0|14;dp_hist_alt_bin_freq=0|0|8|5|2|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|19023|15393|7356|4122|1261|72|5|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|2|0|0|2|2|4|1|0|1|0|1|1|0|0|0;cadd_raw_score=0.111704;cadd_phred=2.19800;phylop=0.553000;VRS_Allele_IDs=ga4gh:VA.UBPA4snVwZ5cmx9QmpEVAwMl_NDpCDgF,ga4gh:VA.HRtxFqhhGZt4vFCg6nwNbRI_LCxC-zhf;VRS_Starts=5031011,5031011;VRS_Ends=5031012,5031012;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1041C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1041C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1041C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1041C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1041C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1041C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1041C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1041C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1041C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031013	rs1166952778	G	A	.	AS_VQSR	AC=2;AN=95362;AF=2.09727e-05;grpmax=nfe;fafmax_faf95_max=6.84000e-06;fafmax_faf95_max_gen_anc=nfe;AC_XX=1;AF_XX=1.99037e-05;AN_XX=50242;nhomalt_XX=0;AC_XY=1;AF_XY=2.21631e-05;AN_XY=45120;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=11532;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=9214;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=20746;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=364;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=356;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=720;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4418;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5540;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9958;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1292;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1090;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2382;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1074;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1186;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2260;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1552;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5236;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6788;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=112;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=102;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=214;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=3.49528e-05;AN_nfe_XX=28610;nhomalt_nfe_XX=0;AC_nfe_XY=1;AF_nfe_XY=5.03170e-05;AN_nfe_XY=19874;nhomalt_nfe_XY=0;AC_nfe=2;AF_nfe=4.12507e-05;AN_nfe=48484;nhomalt_nfe=0;AC_raw=4;AF_raw=2.73744e-05;AN_raw=146122;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=560;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=580;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1140;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=728;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1942;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2670;nhomalt_sas=0;AC_grpmax=2;AF_grpmax=4.12507e-05;AN_grpmax=48484;nhomalt_grpmax=0;faf95=3.48000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=6.84000e-06;faf95_sas=0.00000;faf99=1.30000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=2.56000e-06;faf99_sas=0.00000;fafmax_faf99_max=2.56000e-06;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|1|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=8.41762;MQ=27.4895;MQRankSum=0.278000;QUALapprox=1903;QD=15.9916;ReadPosRankSum=0.278000;SOR=1.47400;VarDP=119;AS_FS=8.41762;AS_MQ=27.4895;AS_MQRankSum=0.278000;AS_pab_max=1.00000;AS_QUALapprox=1903;AS_QD=15.9916;AS_ReadPosRankSum=0.278000;AS_SB_TABLE=32,16|56,15;AS_SOR=1.47432;AS_VarDP=119;inbreeding_coeff=-2.73751e-05;AS_culprit=AS_MQ;AS_VQSLOD=-4.07040;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1|1|0;gq_hist_all_bin_freq=0|0|0|0|31648|9931|4436|1144|338|121|38|8|5|5|2|2|1|1|1|0;dp_hist_alt_bin_freq=0|0|2|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|19303|15517|7384|4132|1264|75|5|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|1|1|0|0|0|0|0|0;cadd_raw_score=-0.195912;cadd_phred=0.521000;phylop=-1.18000;VRS_Allele_IDs=ga4gh:VA.CzoV6kF40OL4Jego6QOej5SmAuH35Sbd,ga4gh:VA.kvrMefy3MhOYWeY4OOe7pW5n7QmFn943;VRS_Starts=5031012,5031012;VRS_Ends=5031013,5031013;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1040G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1040G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1040G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1040G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1040G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1040G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1040G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1040G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1040G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031016	rs1406067300	G	A	.	AC0;AS_VQSR	AC=0;AN=95008;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=50164;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=44844;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=11564;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=9174;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=20738;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=364;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=356;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=720;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4376;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5478;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9854;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1296;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1096;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2392;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1064;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1200;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2264;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1540;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5108;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6648;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=110;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=100;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=210;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=28560;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19818;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=48378;nhomalt_nfe=0;AC_raw=1;AF_raw=6.84894e-06;AN_raw=146008;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=566;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=586;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1152;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=724;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1928;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2652;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=21.7567;MQ=27.4379;MQRankSum=-0.731000;QUALapprox=488;QD=8.13333;ReadPosRankSum=-0.0990000;SOR=2.60800;VarDP=60;AS_FS=13.1429;AS_MQ=27.0000;AS_MQRankSum=-1.38000;AS_pab_max=0.687500;AS_QUALapprox=109;AS_QD=18.1667;AS_ReadPosRankSum=-0.720000;AS_SB_TABLE=17,22|4,0;AS_SOR=3.24308;AS_VarDP=6;inbreeding_coeff=-6.84899e-06;AS_culprit=AS_SOR;AS_VQSLOD=-8.07250;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|31553|9856|4413|1150|320|142|43|12|6|5|2|1|0|0|0|1;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|19257|15436|7354|4119|1257|73|7|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.108363;cadd_phred=2.16700;phylop=0.548000;VRS_Allele_IDs=ga4gh:VA.QlNOXPsUOaEfuVBu5iHdn81P6TiVAItQ,ga4gh:VA.JWOyX6WdDxCM8waRJLOq9SJ8JXkNyu56;VRS_Starts=5031015,5031015;VRS_Ends=5031016,5031016;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1037G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1037G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1037G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1037G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1037G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1037G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1037G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1037G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1037G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031016	rs1406067300	G	C	.	AS_VQSR	AC=2;AN=95008;AF=2.10509e-05;grpmax=nfe;fafmax_faf95_max=6.85000e-06;fafmax_faf95_max_gen_anc=nfe;AC_XX=1;AF_XX=1.99346e-05;AN_XX=50164;nhomalt_XX=0;AC_XY=1;AF_XY=2.22995e-05;AN_XY=44844;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=11564;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=9174;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=20738;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=364;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=356;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=720;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4376;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5478;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9854;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1296;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1096;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2392;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1064;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1200;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2264;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1540;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5108;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6648;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=110;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=100;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=210;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=3.50140e-05;AN_nfe_XX=28560;nhomalt_nfe_XX=0;AC_nfe_XY=1;AF_nfe_XY=5.04592e-05;AN_nfe_XY=19818;nhomalt_nfe_XY=0;AC_nfe=2;AF_nfe=4.13411e-05;AN_nfe=48378;nhomalt_nfe=0;AC_raw=2;AF_raw=1.36979e-05;AN_raw=146008;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=566;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=586;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1152;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=724;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1928;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2652;nhomalt_sas=0;AC_grpmax=2;AF_grpmax=4.13411e-05;AN_grpmax=48378;nhomalt_grpmax=0;faf95=3.50000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=6.85000e-06;faf95_sas=0.00000;faf99=1.31000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=2.56000e-06;faf99_sas=0.00000;fafmax_faf99_max=2.56000e-06;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|0|0|2|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=21.7567;MQ=27.4379;MQRankSum=-0.731000;QUALapprox=488;QD=8.13333;ReadPosRankSum=-0.0990000;SOR=2.60800;VarDP=60;AS_FS=13.9717;AS_MQ=27.4852;AS_MQRankSum=-0.0990000;AS_pab_max=0.375000;AS_QUALapprox=379;AS_QD=7.01852;AS_ReadPosRankSum=0.731000;AS_SB_TABLE=17,22|13,4;AS_SOR=2.13446;AS_VarDP=54;inbreeding_coeff=-1.36981e-05;AS_culprit=AS_MQ;AS_VQSLOD=-2.82430;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|31553|9856|4413|1150|320|142|43|12|6|5|2|1|0|0|0|1;dp_hist_alt_bin_freq=0|0|1|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|19257|15436|7354|4119|1257|73|7|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0716680;cadd_phred=1.84900;phylop=0.548000;VRS_Allele_IDs=ga4gh:VA.QlNOXPsUOaEfuVBu5iHdn81P6TiVAItQ,ga4gh:VA.w6oLkVblVTETgO-nBSKwNNHA0zToImGq;VRS_Starts=5031015,5031015;VRS_Ends=5031016,5031016;VRS_States=G,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1037G>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1037G>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1037G>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1037G>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1037G>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1037G>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1037G>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1037G>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1037G>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031018	rs1175471922	C	CCTATGATCACACCGT	.	AC0	AC=0;AN=95266;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=50150;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=45116;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=11576;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=9296;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=20872;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=358;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=356;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=714;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4388;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5490;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9878;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1298;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1076;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2374;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1058;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1198;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2256;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1522;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5192;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6714;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=100;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=96;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=196;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=28560;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19874;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=48434;nhomalt_nfe=0;AC_raw=1;AF_raw=6.85439e-06;AN_raw=145892;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=580;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=606;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1186;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=710;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1932;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2642;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=27.0000;MQRankSum=0.00000;QUALapprox=366;QD=28.1538;ReadPosRankSum=-0.358000;SOR=0.892000;VarDP=13;AS_FS=0.00000;AS_MQ=27.0000;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=366;AS_QD=28.1538;AS_ReadPosRankSum=-0.358000;AS_SB_TABLE=2,2|4,5;AS_SOR=0.891998;AS_VarDP=13;inbreeding_coeff=-6.85443e-06;AS_culprit=AS_FS;AS_VQSLOD=15.4216;allele_type=ins;n_alt_alleles=1;variant_type=indel;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|31589|9885|4469|1132|312|132|34|7|6|4|1|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|19333|15467|7345|4098|1250|70|7|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.275750;cadd_phred=0.351000;phylop=-1.78900;VRS_Allele_IDs=ga4gh:VA.rYpuYa3seHD4HMqlM3_t6hD0tsTpzwlI,ga4gh:VA.BDt9gE2Cm1-NszRrJv6ZRWCHPtqwMZK0;VRS_Starts=5031017,5031018;VRS_Ends=5031018,5031032;VRS_States=C,CTATGATCACACCGTCTATGATCACACCG;vep=CTATGATCACACCGT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1021_698-1020insTCTATGATCACACCG|||||||1||1||insertion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,CTATGATCACACCGT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1021_347-1020insTCTATGATCACACCG|||||||1||1||insertion||||||5|||ENSP00000484302||Ensembl|||||||||||||,CTATGATCACACCGT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1021_347-1020insTCTATGATCACACCG|||||||1||1||insertion||||||2|||ENSP00000485649||Ensembl|||||||||||||,CTATGATCACACCGT|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1021_*312-1020insTCTATGATCACACCG|||||||1||1||insertion||||||2|||ENSP00000485557||Ensembl|||||||||||||,CTATGATCACACCGT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1021_698-1020insTCTATGATCACACCG|||||||1||1||insertion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,CTATGATCACACCGT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1021_698-1020insTCTATGATCACACCG|||||||1||1||insertion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,CTATGATCACACCGT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1021_698-1020insTCTATGATCACACCG|||||||1||1||insertion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,CTATGATCACACCGT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1021_698-1020insTCTATGATCACACCG|||||||1||1||insertion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,CTATGATCACACCGT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1021_698-1020insTCTATGATCACACCG|||||||1||1||insertion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031031	rs1441313282	C	T	.	AS_VQSR	AC=239;AN=94354;AF=0.00253301;grpmax=afr;fafmax_faf95_max=0.00808422;fafmax_faf95_max_gen_anc=afr;AC_XX=137;AF_XX=0.00275310;AN_XX=49762;nhomalt_XX=1;AC_XY=102;AF_XY=0.00228741;AN_XY=44592;nhomalt_XY=1;nhomalt=2;AC_afr_XX=110;AF_afr_XX=0.00964067;AN_afr_XX=11410;nhomalt_afr_XX=1;AC_afr_XY=78;AF_afr_XY=0.00854701;AN_afr_XY=9126;nhomalt_afr_XY=1;AC_afr=188;AF_afr=0.00915466;AN_afr=20536;nhomalt_afr=2;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=358;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=354;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=712;nhomalt_ami=0;AC_amr_XX=10;AF_amr_XX=0.00229991;AN_amr_XX=4348;nhomalt_amr_XX=0;AC_amr_XY=11;AF_amr_XY=0.00201539;AN_amr_XY=5458;nhomalt_amr_XY=0;AC_amr=21;AF_amr=0.00214155;AN_amr=9806;nhomalt_amr=0;AC_asj_XX=5;AF_asj_XX=0.00390625;AN_asj_XX=1280;nhomalt_asj_XX=0;AC_asj_XY=8;AF_asj_XY=0.00739372;AN_asj_XY=1082;nhomalt_asj_XY=0;AC_asj=13;AF_asj=0.00550381;AN_asj=2362;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1044;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1186;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2230;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1484;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5020;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6504;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=100;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=100;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=200;nhomalt_mid=0;AC_nfe_XX=12;AF_nfe_XX=0.000421526;AN_nfe_XX=28468;nhomalt_nfe_XX=0;AC_nfe_XY=4;AF_nfe_XY=0.000202184;AN_nfe_XY=19784;nhomalt_nfe_XY=0;AC_nfe=16;AF_nfe=0.000331592;AN_nfe=48252;nhomalt_nfe=0;AC_raw=473;AF_raw=0.00325162;AN_raw=145466;nhomalt_raw=28;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=572;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=586;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1158;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=698;nhomalt_sas_XX=0;AC_sas_XY=1;AF_sas_XY=0.000527426;AN_sas_XY=1896;nhomalt_sas_XY=0;AC_sas=1;AF_sas=0.000385505;AN_sas=2594;nhomalt_sas=0;AC_grpmax=188;AF_grpmax=0.00915466;AN_grpmax=20536;nhomalt_grpmax=2;faf95=0.00226910;faf95_afr=0.00808422;faf95_amr=0.00143425;faf95_eas=0.00000;faf95_nfe=0.000207470;faf95_sas=0.00000;faf99=0.00216696;faf99_afr=0.00767296;faf99_amr=0.00120546;faf99_eas=0.00000;faf99_nfe=0.000168910;faf99_sas=0.00000;fafmax_faf99_max=0.00767296;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=7|2|4|8|11|17|13|9|6|4;age_hist_het_n_smaller=15;age_hist_het_n_larger=1;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=2.44003;MQ=27.7416;MQRankSum=0.00000;QUALapprox=138839;QD=12.7562;ReadPosRankSum=0.248000;SOR=0.898000;VarDP=10884;AS_FS=2.44003;AS_MQ=27.7416;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=138839;AS_QD=12.7562;AS_ReadPosRankSum=0.248000;AS_SB_TABLE=2830,2628|3066,2360;AS_SOR=0.898228;AS_VarDP=10884;inbreeding_coeff=0.115517;AS_culprit=AS_MQ;AS_VQSLOD=-3.76440;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|1|1|10|2|0|2|8|13|6|7|4|4|5|12|23|136;gq_hist_all_bin_freq=0|0|0|0|31275|9671|4307|1165|324|124|34|21|7|11|5|4|5|12|23|136;dp_hist_alt_bin_freq=0|0|159|54|15|5|1|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|19342|15210|7250|4011|1234|71|5|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|17|23|28|26|24|15|31|10|27|14|3|4|10|1|0|0;cadd_raw_score=0.127917;cadd_phred=2.35200;phylop=0.557000;VRS_Allele_IDs=ga4gh:VA.n7W6lwlmkbeopvVradTmXdf6JSPSISGu,ga4gh:VA.zfG8N6bP7Z-nlUkU5XxneV7qJYm0OFbl;VRS_Starts=5031030,5031030;VRS_Ends=5031031,5031031;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1022C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1022C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1022C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1022C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1022C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1022C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1022C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1022C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1022C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031032	rs1238497740	G	A	.	AS_VQSR	AC=1;AN=93536;AF=1.06911e-05;grpmax=afr;AC_XX=1;AF_XX=2.02560e-05;AN_XX=49368;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=44168;nhomalt_XY=0;nhomalt=0;AC_afr_XX=1;AF_afr_XX=8.88731e-05;AN_afr_XX=11252;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=8958;nhomalt_afr_XY=0;AC_afr=1;AF_afr=4.94805e-05;AN_afr=20210;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=356;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=348;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=704;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4318;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5408;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9726;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1282;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1086;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2368;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=986;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1168;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2154;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1466;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5008;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6474;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=110;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=92;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=202;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=28396;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19694;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=48090;nhomalt_nfe=0;AC_raw=5;AF_raw=3.46069e-05;AN_raw=144480;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=556;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=574;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1130;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=646;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1832;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2478;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=4.94805e-05;AN_grpmax=20210;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=1;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=33.8906;MQ=27.9375;MQRankSum=-0.361000;QUALapprox=4564;QD=14.4889;ReadPosRankSum=0.406000;SOR=0.586000;VarDP=315;AS_FS=33.8906;AS_MQ=27.9375;AS_MQRankSum=-0.361000;AS_pab_max=1.00000;AS_QUALapprox=4564;AS_QD=14.4889;AS_ReadPosRankSum=0.406000;AS_SB_TABLE=92,49|78,96;AS_SOR=0.585930;AS_VarDP=315;inbreeding_coeff=0.399979;AS_culprit=AS_FS;AS_VQSLOD=-6.81940;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|31263|9654|4214|1164|324|113|24|8|1|2|1|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|19133|15082|7233|4009|1235|70|5|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0;cadd_raw_score=-0.103337;cadd_phred=0.816000;phylop=-1.18500;VRS_Allele_IDs=ga4gh:VA.9h19jG5wY9YXpqnD3anSD4ExDYPon8ex,ga4gh:VA.52SMHiBIXEnDSksEe3xKxfl4JZLxJaF2;VRS_Starts=5031031,5031031;VRS_Ends=5031032,5031032;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1021G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1021G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1021G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1021G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1021G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1021G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1021G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1021G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1021G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031048	rs1466826258	G	T	.	AC0;AS_VQSR	AC=0;AN=92200;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=48656;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=43544;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=10912;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=8842;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=19754;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=352;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=360;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=712;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4286;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5312;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9598;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1268;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1062;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2330;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=988;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1160;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2148;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1392;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4796;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6188;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=106;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=100;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=206;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=28100;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19532;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=47632;nhomalt_nfe=0;AC_raw=1;AF_raw=6.93347e-06;AN_raw=144228;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=554;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=558;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1112;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=698;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1822;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2520;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=27.0000;MQRankSum=-0.731000;QUALapprox=111;QD=22.2000;ReadPosRankSum=0.731000;SOR=1.98100;VarDP=5;AS_FS=.;AS_MQ=27.0000;AS_MQRankSum=-0.731000;AS_pab_max=0.375000;AS_QUALapprox=111;AS_QD=22.2000;AS_ReadPosRankSum=0.731000;AS_SB_TABLE=1,0|4,0;AS_SOR=1.98100;AS_VarDP=5;inbreeding_coeff=-6.93351e-06;AS_culprit=AS_MQ;AS_VQSLOD=-4.93130;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|30887|9313|4157|1217|324|143|42|4|5|6|1|1|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18959|14840|7081|3930|1213|72|4|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0245450;cadd_phred=1.49700;phylop=0.552000;VRS_Allele_IDs=ga4gh:VA.dONgcGGTtedb3XATzUmQnYlzNxEvprQA,ga4gh:VA.aCVnEIL8ti5U93qE9IJCMJ9bE_IgQtCp;VRS_Starts=5031047,5031047;VRS_Ends=5031048,5031048;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1005G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1005G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1005G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1005G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1005G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1005G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1005G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1005G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1005G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031052	rs1266880145	A	G	.	AC0;AS_VQSR	AC=0;AN=92264;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=48616;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=43648;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=10880;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=8786;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=19666;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=352;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=356;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=708;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4320;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5358;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9678;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1280;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1070;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2350;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=968;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1154;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2122;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1344;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4878;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6222;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=108;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=98;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=206;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=28120;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19578;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=47698;nhomalt_nfe=0;AC_raw=1;AF_raw=6.92463e-06;AN_raw=144412;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=560;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=542;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1102;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=684;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1828;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2512;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=28.4938;MQRankSum=-1.06100;QUALapprox=90;QD=5.00000;ReadPosRankSum=-0.550000;SOR=0.859000;VarDP=18;AS_FS=0.00000;AS_MQ=28.4938;AS_MQRankSum=-1.06100;AS_pab_max=1.00000;AS_QUALapprox=90;AS_QD=5.00000;AS_ReadPosRankSum=-0.550000;AS_SB_TABLE=6,7|2,3;AS_SOR=0.859132;AS_VarDP=18;inbreeding_coeff=-6.92468e-06;AS_culprit=AS_MQ;AS_VQSLOD=-3.90910;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|30695|9348|4283|1234|348|146|53|7|11|5|1|1|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|19077|14819|7053|3895|1211|73|3|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0420000;cadd_phred=1.62100;phylop=-0.375000;VRS_Allele_IDs=ga4gh:VA.0LfUsDOffUQssoy6W3Bh7kPSnYc_sGTZ,ga4gh:VA.6FWCupAD-X2vZc5wab_DSeIUHzj1a-Tv;VRS_Starts=5031051,5031051;VRS_Ends=5031052,5031052;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-1001A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-1001A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-1001A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-1001A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-1001A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-1001A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-1001A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-1001A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-1001A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031055	rs1221631480	C	T	.	AS_VQSR	AC=2;AN=89712;AF=2.22936e-05;grpmax=nfe;fafmax_faf95_max=7.07000e-06;fafmax_faf95_max_gen_anc=nfe;AC_XX=2;AF_XX=4.21479e-05;AN_XX=47452;nhomalt_XX=1;AC_XY=0;AF_XY=0.00000;AN_XY=42260;nhomalt_XY=0;nhomalt=1;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=10508;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=8520;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=19028;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=348;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=354;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=702;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4156;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5098;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9254;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1262;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1058;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2320;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=938;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1140;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2078;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1290;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4480;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=5770;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=106;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=90;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=196;nhomalt_mid=0;AC_nfe_XX=2;AF_nfe_XX=7.23589e-05;AN_nfe_XX=27640;nhomalt_nfe_XX=1;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19246;nhomalt_nfe_XY=0;AC_nfe=2;AF_nfe=4.26567e-05;AN_nfe=46886;nhomalt_nfe=1;AC_raw=2;AF_raw=1.39995e-05;AN_raw=142862;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=534;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=522;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1056;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=670;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1752;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2422;nhomalt_sas=0;AC_grpmax=2;AF_grpmax=4.26567e-05;AN_grpmax=46886;nhomalt_grpmax=1;faf95=3.70000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=7.07000e-06;faf95_sas=0.00000;faf99=1.39000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=2.65000e-06;faf99_sas=0.00000;fafmax_faf99_max=2.65000e-06;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=10.8090;MQ=28.2881;MQRankSum=0.00000;QUALapprox=593;QD=25.7826;ReadPosRankSum=-1.02600;SOR=2.09700;VarDP=23;AS_FS=10.8090;AS_MQ=28.2881;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=593;AS_QD=25.7826;AS_ReadPosRankSum=-1.02600;AS_SB_TABLE=2,0|5,16;AS_SOR=2.09665;AS_VarDP=23;inbreeding_coeff=1.00000;AS_culprit=AS_MQ;AS_VQSLOD=-6.49790;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|30118|9034|4014|1117|330|149|49|14|13|10|3|2|1|0|1|1;dp_hist_alt_bin_freq=0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18299|14457|6963|3859|1199|75|3|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0694620;cadd_phred=0.960000;phylop=-0.873000;VRS_Allele_IDs=ga4gh:VA.BnXeo7XqnOS8UhSZOL--Qr0azaTQK-kV,ga4gh:VA.uCNG-l7OG-b2X-Sx8TA6b3QREW8MVy7m;VRS_Starts=5031054,5031054;VRS_Ends=5031055,5031055;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-998C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-998C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-998C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-998C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-998C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-998C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-998C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-998C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-998C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031057	rs1315871206	G	C	.	AS_VQSR	AC=1;AN=87456;AF=1.14343e-05;grpmax=afr;AC_XX=1;AF_XX=2.15619e-05;AN_XX=46378;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=41078;nhomalt_XY=0;nhomalt=0;AC_afr_XX=1;AF_afr_XX=9.74469e-05;AN_afr_XX=10262;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=8364;nhomalt_afr_XY=0;AC_afr=1;AF_afr=5.36884e-05;AN_afr=18626;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=334;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=352;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=686;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4046;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4996;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9042;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1250;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1058;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2308;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=850;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1012;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1862;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1086;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4204;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=5290;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=84;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=182;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27398;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18854;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46252;nhomalt_nfe=0;AC_raw=2;AF_raw=1.42219e-05;AN_raw=140628;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=534;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=526;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1060;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=520;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1628;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2148;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=5.36884e-05;AN_grpmax=18626;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|1|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=14.7744;MQ=27.8971;MQRankSum=-0.177000;QUALapprox=596;QD=13.8605;ReadPosRankSum=0.825000;SOR=0.805000;VarDP=43;AS_FS=24.2807;AS_MQ=28.8477;AS_MQRankSum=0.751000;AS_pab_max=0.387695;AS_QUALapprox=233;AS_QD=11.0952;AS_ReadPosRankSum=0.825000;AS_SB_TABLE=17,6|1,8;AS_SOR=3.01560;AS_VarDP=21;inbreeding_coeff=-1.42221e-05;AS_culprit=AS_SOR;AS_VQSLOD=-4.14140;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|29613|8824|3819|1052|276|106|27|4|2|2|2|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|17910|14076|6742|3767|1164|66|2|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0;cadd_raw_score=0.0318880;cadd_phred=1.54800;phylop=0.552000;VRS_Allele_IDs=ga4gh:VA.ANbGREc7tHBkW8K7WCNdnQWUp2uoJMQQ,ga4gh:VA.4MvHFa0d4Ejx6xOhO5wGMBb7-yvNs2A0;VRS_Starts=5031056,5031056;VRS_Ends=5031057,5031057;VRS_States=G,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-996G>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-996G>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-996G>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-996G>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-996G>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-996G>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-996G>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-996G>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-996G>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031057	rs1315871206	G	T	.	AS_VQSR	AC=1;AN=87456;AF=1.14343e-05;grpmax=afr;AC_XX=1;AF_XX=2.15619e-05;AN_XX=46378;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=41078;nhomalt_XY=0;nhomalt=0;AC_afr_XX=1;AF_afr_XX=9.74469e-05;AN_afr_XX=10262;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=8364;nhomalt_afr_XY=0;AC_afr=1;AF_afr=5.36884e-05;AN_afr=18626;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=334;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=352;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=686;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4046;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4996;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9042;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1250;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1058;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2308;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=850;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1012;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1862;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1086;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4204;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=5290;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=84;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=182;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27398;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18854;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46252;nhomalt_nfe=0;AC_raw=1;AF_raw=7.11096e-06;AN_raw=140628;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=534;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=526;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1060;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=520;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1628;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2148;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=5.36884e-05;AN_grpmax=18626;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=14.7744;MQ=27.8971;MQRankSum=-0.177000;QUALapprox=596;QD=13.8605;ReadPosRankSum=0.825000;SOR=0.805000;VarDP=43;AS_FS=5.29651;AS_MQ=27.0000;AS_MQRankSum=-0.177000;AS_pab_max=0.607239;AS_QUALapprox=225;AS_QD=15.0000;AS_ReadPosRankSum=1.23700;AS_SB_TABLE=17,6|6,0;AS_SOR=2.12948;AS_VarDP=15;inbreeding_coeff=-7.11101e-06;AS_culprit=AS_MQ;AS_VQSLOD=-4.36000;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|29613|8824|3819|1052|276|106|27|4|2|2|2|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|17910|14076|6742|3767|1164|66|2|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0197300;cadd_phred=1.46400;phylop=0.552000;VRS_Allele_IDs=ga4gh:VA.ANbGREc7tHBkW8K7WCNdnQWUp2uoJMQQ,ga4gh:VA.vbucofou_51tXkk-FKpDyvQ3zcdldO7y;VRS_Starts=5031056,5031056;VRS_Ends=5031057,5031057;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-996G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-996G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-996G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-996G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-996G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-996G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-996G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-996G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-996G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031059	rs1238524500	A	G	.	AS_VQSR	AC=14;AN=90730;AF=0.000154304;grpmax=nfe;fafmax_faf95_max=0.000145740;fafmax_faf95_max_gen_anc=nfe;AC_XX=6;AF_XX=0.000125570;AN_XX=47782;nhomalt_XX=1;AC_XY=8;AF_XY=0.000186272;AN_XY=42948;nhomalt_XY=1;nhomalt=2;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=10610;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=8660;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=19270;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=348;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=356;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=704;nhomalt_ami=0;AC_amr_XX=1;AF_amr_XX=0.000236072;AN_amr_XX=4236;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5250;nhomalt_amr_XY=0;AC_amr=1;AF_amr=0.000105419;AN_amr=9486;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1264;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1070;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2334;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=926;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1104;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2030;nhomalt_eas=0;AC_fin_XX=1;AF_fin_XX=0.000803859;AN_fin_XX=1244;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4666;nhomalt_fin_XY=0;AC_fin=1;AF_fin=0.000169205;AN_fin=5910;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=96;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=94;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=190;nhomalt_mid=0;AC_nfe_XX=4;AF_nfe_XX=0.000143637;AN_nfe_XX=27848;nhomalt_nfe_XX=1;AC_nfe_XY=8;AF_nfe_XY=0.000411480;AN_nfe_XY=19442;nhomalt_nfe_XY=1;AC_nfe=12;AF_nfe=0.000253753;AN_nfe=47290;nhomalt_nfe=2;AC_raw=19;AF_raw=0.000132224;AN_raw=143696;nhomalt_raw=3;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=558;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=536;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1094;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=652;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1770;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2422;nhomalt_sas=0;AC_grpmax=12;AF_grpmax=0.000253753;AN_grpmax=47290;nhomalt_grpmax=2;faf95=9.22900e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.000145740;faf95_sas=0.00000;faf99=7.37700e-05;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.000114240;faf99_sas=0.00000;fafmax_faf99_max=0.000114240;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|1|2|1|1|1|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|1|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=6.75270;MQ=28.3992;MQRankSum=-0.473000;QUALapprox=6512;QD=16.1588;ReadPosRankSum=0.382000;SOR=1.24300;VarDP=403;AS_FS=6.75270;AS_MQ=28.3992;AS_MQRankSum=-0.473000;AS_pab_max=1.00000;AS_QUALapprox=6512;AS_QD=16.1588;AS_ReadPosRankSum=0.382000;AS_SB_TABLE=60,95|71,177;AS_SOR=1.24349;AS_VarDP=403;inbreeding_coeff=0.315699;AS_culprit=AS_MQ;AS_VQSLOD=-3.73480;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|1|0|1|0|1|0|0|1|0|1|0|0|1|6;gq_hist_all_bin_freq=0|0|0|0|30168|9099|4172|1242|345|169|54|28|15|13|6|6|1|1|2|6;dp_hist_alt_bin_freq=0|0|5|3|2|2|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18789|14515|6913|3827|1196|76|11|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|1|1|1|2|1|0|2|0|2|0|0|0|0;cadd_raw_score=0.0362140;cadd_phred=1.57900;phylop=0.436000;VRS_Allele_IDs=ga4gh:VA.sFOHUsj40SyfqwKNwSrEXAuqrNG7g6B2,ga4gh:VA.BZc-fiHhfuEkg1aexBRjMAkpfOSNHCMy;VRS_Starts=5031058,5031058;VRS_Ends=5031059,5031059;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-994A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-994A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-994A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-994A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-994A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-994A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-994A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-994A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-994A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031062	rs1987120258	A	G	.	AS_VQSR	AC=1;AN=85242;AF=1.17313e-05;grpmax=nfe;AC_XX=0;AF_XX=0.00000;AN_XX=45162;nhomalt_XX=0;AC_XY=1;AF_XY=2.49501e-05;AN_XY=40080;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=9778;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=8110;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=17888;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=328;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=340;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=668;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3980;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4814;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8794;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1220;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1040;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2260;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=860;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1024;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1884;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1062;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3970;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=5032;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=92;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=86;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=178;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26814;nhomalt_nfe_XX=0;AC_nfe_XY=1;AF_nfe_XY=5.38213e-05;AN_nfe_XY=18580;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=2.20293e-05;AN_nfe=45394;nhomalt_nfe=0;AC_raw=1;AF_raw=7.15471e-06;AN_raw=139768;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=496;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=500;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=996;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=532;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1616;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2148;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=2.20293e-05;AN_grpmax=45394;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=27.7750;MQRankSum=-0.107000;QUALapprox=101;QD=3.48276;ReadPosRankSum=1.39600;SOR=0.446000;VarDP=29;AS_FS=4.31219;AS_MQ=27.9327;AS_MQRankSum=-1.52800;AS_pab_max=0.143463;AS_QUALapprox=79;AS_QD=4.64706;AS_ReadPosRankSum=-0.158000;AS_SB_TABLE=8,14|3,2;AS_SOR=0.759767;AS_VarDP=17;inbreeding_coeff=-7.15476e-06;AS_culprit=AS_MQ;AS_VQSLOD=-3.45050;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|29131|8499|3579|1004|263|111|21|5|3|3|1|1|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|17241|13751|6660|3722|1169|74|4|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.211426;cadd_phred=3.25500;phylop=0.436000;VRS_Allele_IDs=ga4gh:VA.IwmEXHdsJMKNn1auClhnmUTCam581Ng4,ga4gh:VA.nxO-Bs7VAPvfKcKt3neqx0-TWcsEub0g;VRS_Starts=5031061,5031061;VRS_Ends=5031062,5031062;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-991A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-991A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-991A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-991A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-991A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-991A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-991A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-991A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-991A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031072	rs1310387969	A	T	.	AS_VQSR	AC=1;AN=90228;AF=1.10830e-05;grpmax=afr;AC_XX=1;AF_XX=2.10553e-05;AN_XX=47494;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=42734;nhomalt_XY=0;nhomalt=0;AC_afr_XX=1;AF_afr_XX=9.64506e-05;AN_afr_XX=10368;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=8490;nhomalt_afr_XY=0;AC_afr=1;AF_afr=5.30279e-05;AN_afr=18858;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=346;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=362;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=708;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4180;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5170;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9350;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1274;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1056;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2330;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=988;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1148;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2136;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1222;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4628;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=5850;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=96;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=194;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27804;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19462;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=47266;nhomalt_nfe=0;AC_raw=1;AF_raw=6.95314e-06;AN_raw=143820;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=526;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=528;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1054;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=688;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1794;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2482;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=5.30279e-05;AN_grpmax=18858;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=28.7692;MQRankSum=-2.37200;QUALapprox=244;QD=16.2667;ReadPosRankSum=-0.521000;SOR=0.569000;VarDP=15;AS_FS=0.00000;AS_MQ=28.7692;AS_MQRankSum=-2.37200;AS_pab_max=1.00000;AS_QUALapprox=244;AS_QD=16.2667;AS_ReadPosRankSum=-0.521000;AS_SB_TABLE=7,1|6,1;AS_SOR=0.568505;AS_VarDP=15;inbreeding_coeff=-6.95318e-06;AS_culprit=AS_MQ;AS_VQSLOD=-4.11660;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|30014|8976|4167|1244|381|182|69|35|13|12|6|6|2|4|1|2;dp_hist_alt_bin_freq=0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18947|14396|6780|3727|1172|84|6|2|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.00192000;cadd_phred=1.32300;phylop=0.436000;VRS_Allele_IDs=ga4gh:VA.Fj_ulg0xAwsPfZJK12Z23FsqPedP-onW,ga4gh:VA.lSZEEsc1qZoBXQ66EYmx5DKToMdmgcZC;VRS_Starts=5031071,5031071;VRS_Ends=5031072,5031072;VRS_States=A,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-981A>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-981A>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-981A>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-981A>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-981A>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-981A>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-981A>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-981A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-981A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031078	.	T	C	.	AC0;AS_VQSR	AC=0;AN=82334;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=43862;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=38472;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=9530;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=7740;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=17270;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=324;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=344;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=668;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3772;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4640;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8412;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1190;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1030;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2220;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=822;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=942;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1764;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=698;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3588;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=4286;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=96;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=86;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=182;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26494;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18106;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=44600;nhomalt_nfe=0;AC_raw=3;AF_raw=2.19138e-05;AN_raw=136900;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=492;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=492;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=984;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=444;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1504;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1948;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=8.63962;MQ=28.7483;MQRankSum=0.480000;QUALapprox=186;QD=4.32558;ReadPosRankSum=0.480000;SOR=0.775000;VarDP=43;AS_FS=6.69277;AS_MQ=28.0777;AS_MQRankSum=0.480000;AS_pab_max=0.687500;AS_QUALapprox=96;AS_QD=3.09677;AS_ReadPosRankSum=0.480000;AS_SB_TABLE=23,10|3,4;AS_SOR=0.572430;AS_VarDP=31;inbreeding_coeff=-2.19143e-05;AS_culprit=AS_MQ;AS_VQSLOD=-2.87120;allele_type=snv;n_alt_alleles=3;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|28288|8083|3413|967|277|96|31|6|3|2|1|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|16989|13283|6257|3483|1097|56|2|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.232881;cadd_phred=3.50400;phylop=0.438000;VRS_Allele_IDs=ga4gh:VA.r6SRDXITCy00qX8qscE3DwXc2oHQHSSk,ga4gh:VA.4yhPmYwZpwEjQniavx2zkHyNybkYLLgN;VRS_Starts=5031077,5031077;VRS_Ends=5031078,5031078;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-975T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-975T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-975T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-975T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-975T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-975T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-975T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-975T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-975T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031081	rs1440671911	A	G	.	AC0;AS_VQSR	AC=0;AN=89118;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=46962;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=42156;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=10148;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=8278;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=18426;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=344;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=366;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=710;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4068;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5096;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9164;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1272;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1070;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2342;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1014;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1150;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2164;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1234;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4502;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=5736;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=100;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=98;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=198;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27582;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19290;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46872;nhomalt_nfe=0;AC_raw=2;AF_raw=1.39915e-05;AN_raw=142944;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=526;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=532;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1058;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=674;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1774;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2448;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=26.3249;QUALapprox=216;QD=30.8571;SOR=4.17400;VarDP=7;AS_FS=.;AS_MQ=26.3249;AS_QUALapprox=216;AS_QD=30.8571;AS_SB_TABLE=0,0|7,0;AS_SOR=4.17439;AS_VarDP=7;inbreeding_coeff=1.00000;AS_culprit=AS_SOR;AS_VQSLOD=-14.5890;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|29381|8749|4225|1325|424|234|102|37|44|12|12|4|4|2|2|2;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18704|14278|6706|3622|1147|92|7|3|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0359720;cadd_phred=1.57700;phylop=-0.494000;VRS_Allele_IDs=ga4gh:VA.ybvGZeSfcEjGeqXxIV8U6Q6aRnQkvJCR,ga4gh:VA.X5ceTfuwLiklV-U-RBRgrjjaGLswv8fo;VRS_Starts=5031080,5031080;VRS_Ends=5031081,5031081;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-972A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-972A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-972A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-972A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-972A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-972A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-972A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-972A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-972A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031082	rs1987120432	T	C	.	AC0;AS_VQSR	AC=0;AN=81630;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=43340;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=38290;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=9238;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=7606;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=16844;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=326;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=326;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=652;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3692;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4496;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8188;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1190;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1006;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2196;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=892;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1022;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1914;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=868;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3678;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=4546;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=90;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=82;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=172;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26000;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=17994;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=43994;nhomalt_nfe=0;AC_raw=1;AF_raw=7.32934e-06;AN_raw=136438;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=484;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=486;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=970;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=560;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1594;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2154;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=27.3313;MQRankSum=-0.589000;QUALapprox=84;QD=4.20000;ReadPosRankSum=0.248000;SOR=0.252000;VarDP=20;AS_FS=4.82164e-16;AS_MQ=27.0000;AS_MQRankSum=-1.42200;AS_pab_max=0.507813;AS_QUALapprox=68;AS_QD=7.55556;AS_ReadPosRankSum=0.248000;AS_SB_TABLE=13,2|3,0;AS_SOR=0.550831;AS_VarDP=9;inbreeding_coeff=-7.32939e-06;AS_culprit=AS_MQ;AS_VQSLOD=-3.80140;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|28006|7966|3413|934|299|122|40|17|10|4|3|1|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|16566|13214|6347|3495|1103|83|6|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.235774;cadd_phred=3.53800;phylop=0.438000;VRS_Allele_IDs=ga4gh:VA.uEHzB2qCvKPVqd3ksmZrHb4aIXHtsbY8,ga4gh:VA.g8WD1Tycv91eYMnfOY-CgarEoKroUoBH;VRS_Starts=5031081,5031081;VRS_Ends=5031082,5031082;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-971T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-971T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-971T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-971T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-971T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-971T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-971T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-971T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-971T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031086	.	T	A	.	AC0;AS_VQSR	AC=0;AN=81504;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=43324;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=38180;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=9312;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=7600;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=16912;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=330;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=330;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=660;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3694;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4474;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8168;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1168;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1026;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2194;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=856;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1012;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1868;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=808;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3674;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=4482;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=76;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=80;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=156;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26062;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=17938;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=44000;nhomalt_nfe=0;AC_raw=3;AF_raw=2.19809e-05;AN_raw=136482;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=500;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=490;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=990;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=518;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1556;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2074;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=4.02517;MQ=27.4441;MQRankSum=-0.736000;QUALapprox=131;QD=3.44737;ReadPosRankSum=0.736000;SOR=1.72100;VarDP=38;AS_FS=8.06585;AS_MQ=27.5760;AS_MQRankSum=-0.736000;AS_pab_max=0.453125;AS_QUALapprox=89;AS_QD=3.06897;AS_ReadPosRankSum=0.762000;AS_SB_TABLE=9,20|0,7;AS_SOR=2.74164;AS_VarDP=29;inbreeding_coeff=-2.19814e-05;AS_culprit=AS_SOR;AS_VQSLOD=-4.65730;allele_type=snv;n_alt_alleles=2;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|27776|8061|3499|948|294|110|34|11|3|3|2|1|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|16683|13183|6268|3437|1085|80|6|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.230819;cadd_phred=3.48000;phylop=0.438000;VRS_Allele_IDs=ga4gh:VA.PU8Qd7c86VgbWGZ25HuudfcJmS61PU35,ga4gh:VA.acLczxRGqtBOFTvAm74hsoHonREjyUzy;VRS_Starts=5031085,5031085;VRS_Ends=5031086,5031086;VRS_States=T,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-967T>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-967T>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-967T>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-967T>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-967T>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-967T>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-967T>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-967T>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-967T>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031092	.	G	T	.	AC0	AC=0;AN=81504;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=43280;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=38224;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=9202;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=7570;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=16772;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=320;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=334;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=654;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3668;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4616;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8284;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1200;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1028;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2228;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=882;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1006;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1888;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=828;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3558;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=4386;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=68;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=68;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=136;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26108;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=17972;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=44080;nhomalt_nfe=0;AC_raw=2;AF_raw=1.46224e-05;AN_raw=136776;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=498;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=508;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1006;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=506;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1564;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2070;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=19.8075;MQ=29.4227;MQRankSum=-0.0450000;QUALapprox=122;QD=1.96774;ReadPosRankSum=0.736000;SOR=1.42900;VarDP=62;AS_FS=19.8075;AS_MQ=29.4227;AS_MQRankSum=-0.0450000;AS_pab_max=1.00000;AS_QUALapprox=122;AS_QD=1.96774;AS_ReadPosRankSum=0.736000;AS_SB_TABLE=35,14|4,9;AS_SOR=1.42878;AS_VarDP=62;inbreeding_coeff=-1.46227e-05;AS_culprit=AS_QD;AS_VQSLOD=-1.03690;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|27495|8104|3630|1038|307|108|36|12|5|3|2|1|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|16752|13161|6253|3397|1089|81|8|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.113155;cadd_phred=0.779000;phylop=-1.00800;VRS_Allele_IDs=ga4gh:VA.RapfvUhkEbY_FNSN5ZuHGtFv0bYBoWeS,ga4gh:VA.MZwDY9bvqob7_iJtni2SWbEuUPRFT8HO;VRS_Starts=5031091,5031091;VRS_Ends=5031092,5031092;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-961G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-961G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-961G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-961G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-961G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-961G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-961G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-961G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-961G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031093	.	A	G	.	AC0;AS_VQSR	AC=0;AN=87024;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=45932;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=41092;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=9770;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=8026;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=17796;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=330;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=362;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=692;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3950;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4996;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8946;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1256;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1056;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2312;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=980;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1116;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2096;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1126;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4142;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=5268;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=90;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=76;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=166;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27242;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19040;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46282;nhomalt_nfe=0;AC_raw=3;AF_raw=2.12483e-05;AN_raw=141188;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=520;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=526;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1046;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=668;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1752;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2420;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.78981;MQ=29.7001;MQRankSum=0.736000;QUALapprox=94;QD=2.35000;ReadPosRankSum=0.736000;SOR=0.284000;VarDP=40;AS_FS=4.19661;AS_MQ=29.8144;AS_MQRankSum=-0.0850000;AS_pab_max=1.00000;AS_QUALapprox=83;AS_QD=2.86207;AS_ReadPosRankSum=0.589000;AS_SB_TABLE=10,23|3,3;AS_SOR=0.190678;AS_VarDP=29;inbreeding_coeff=-2.12487e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.31540;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|28444|8740|4316|1307|408|182|63|26|10|7|5|2|2|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18341|13958|6527|3467|1118|91|9|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.265056;cadd_phred=3.88100;phylop=0.436000;VRS_Allele_IDs=ga4gh:VA.XSp86eLow5XH2GcoZ1RqDQgNO9mx0ks5,ga4gh:VA.StjKIi4-VAF67ILxC5KhsE9N6psZb2kd;VRS_Starts=5031092,5031092;VRS_Ends=5031093,5031093;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-960A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-960A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-960A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-960A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-960A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-960A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-960A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-960A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-960A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031097	rs1365720684	G	T	.	PASS	AC=1;AN=83280;AF=1.20077e-05;grpmax=afr;AC_XX=0;AF_XX=0.00000;AN_XX=44154;nhomalt_XX=0;AC_XY=1;AF_XY=2.55585e-05;AN_XY=39126;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=9326;nhomalt_afr_XX=0;AC_afr_XY=1;AF_afr_XY=0.000130548;AN_afr_XY=7660;nhomalt_afr_XY=0;AC_afr=1;AF_afr=5.88720e-05;AN_afr=16986;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=342;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=344;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=686;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3784;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4704;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8488;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1200;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1024;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2224;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=994;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1054;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2048;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=988;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3724;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=4712;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=68;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=74;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=142;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26326;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18394;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=44720;nhomalt_nfe=0;AC_raw=7;AF_raw=5.06520e-05;AN_raw=138198;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=484;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=510;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=994;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=642;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1638;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2280;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=5.88720e-05;AN_grpmax=16986;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=18.2740;MQ=28.8267;MQRankSum=0.198000;QUALapprox=261;QD=2.55882;ReadPosRankSum=0.198000;SOR=2.16800;VarDP=102;AS_FS=18.2740;AS_MQ=28.8267;AS_MQRankSum=0.198000;AS_pab_max=1.00000;AS_QUALapprox=261;AS_QD=2.55882;AS_ReadPosRankSum=0.198000;AS_SB_TABLE=44,37|5,16;AS_SOR=2.16801;AS_VarDP=102;inbreeding_coeff=-5.06545e-05;AS_culprit=AS_SOR;AS_VQSLOD=-2.05410;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|27256|8389|4112|1198|388|182|58|27|15|6|5|2|2|0|0|0;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|17348|13432|6312|3352|1094|91|11|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0880830;cadd_phred=1.98700;pangolin_largest_ds=0.00000;phylop=0.552000;VRS_Allele_IDs=ga4gh:VA.8C5dLdObTP9aiSD4opS0LWBn07QhMeFz,ga4gh:VA.ondEPi_nhwst-nZnUrykgM2iFj61X8uo;VRS_Starts=5031096,5031096;VRS_Ends=5031097,5031097;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-956G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-956G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-956G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-956G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-956G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-956G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-956G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-956G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-956G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031098	.	G	T	.	AC0;AS_VQSR	AC=0;AN=82708;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=43800;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=38908;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=9210;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=7664;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=16874;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=336;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=338;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=674;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3738;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4684;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8422;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1174;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1014;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2188;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=984;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1068;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2052;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=942;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3680;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=4622;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=78;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=70;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=148;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26234;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18274;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=44508;nhomalt_nfe=0;AC_raw=5;AF_raw=3.63896e-05;AN_raw=137402;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=508;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=524;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1032;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=596;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1592;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2188;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=10.2133;MQ=29.6068;MQRankSum=-0.696000;QUALapprox=128;QD=1.93939;ReadPosRankSum=0.572000;SOR=2.43000;VarDP=66;AS_FS=11.7917;AS_MQ=29.0909;AS_MQRankSum=-0.696000;AS_pab_max=0.453125;AS_QUALapprox=94;AS_QD=2.04348;AS_ReadPosRankSum=0.572000;AS_SB_TABLE=27,28|1,7;AS_SOR=2.76730;AS_VarDP=46;inbreeding_coeff=-3.63909e-05;AS_culprit=AS_SOR;AS_VQSLOD=-4.01730;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|27109|8319|4042|1188|395|181|61|23|12|5|5|3|2|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|17217|13354|6268|3317|1090|89|10|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0903910;cadd_phred=2.00600;phylop=-0.886000;VRS_Allele_IDs=ga4gh:VA.hkgs2Wxs_CjPGm0T7UFQSQMlavnLk6H2,ga4gh:VA.euB0_lTzqzV1NiEZIho_HKfr494rXpqw;VRS_Starts=5031097,5031097;VRS_Ends=5031098,5031098;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-955G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-955G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-955G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-955G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-955G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-955G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-955G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-955G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-955G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031099	.	T	C	.	AC0;AS_VQSR	AC=0;AN=87942;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=46372;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=41570;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=9858;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=8142;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=18000;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=354;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=360;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=714;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4014;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4964;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8978;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1252;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1066;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2318;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1034;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1140;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2174;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1116;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4236;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=5352;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=92;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=84;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=176;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27464;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19310;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46774;nhomalt_nfe=0;AC_raw=2;AF_raw=1.41533e-05;AN_raw=141310;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=516;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=540;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1056;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=672;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1728;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2400;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=28.1063;MQRankSum=-0.529000;QUALapprox=674;QD=11.8246;ReadPosRankSum=0.00000;SOR=0.843000;VarDP=57;AS_FS=4.82164e-16;AS_MQ=28.1665;AS_MQRankSum=-0.529000;AS_pab_max=1.00000;AS_QUALapprox=658;AS_QD=12.1852;AS_ReadPosRankSum=0.529000;AS_SB_TABLE=19,8|21,8;AS_SOR=0.792993;AS_VarDP=54;inbreeding_coeff=-1.41535e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.53880;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|27925|8849|4716|1530|504|256|104|38|26|8|9|4|2|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18795|14166|6458|3354|1096|91|11|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.291649;cadd_phred=4.19200;phylop=-0.982000;VRS_Allele_IDs=ga4gh:VA.B0hbKHol_TglQt9xoQ0PcQPe1NUi_UYM,ga4gh:VA.jfIw-XQ6Lf3WTPRJD6zV0ypUFHC9DejW;VRS_Starts=5031098,5031098;VRS_Ends=5031099,5031099;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-954T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-954T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-954T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-954T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-954T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-954T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-954T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-954T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-954T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031100	rs1295560097	T	A	.	AC0;AS_VQSR	AC=0;AN=87516;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=46204;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=41312;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=9838;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=8062;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=17900;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=356;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=358;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=714;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4006;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4928;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8934;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1236;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1064;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2300;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1026;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1140;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2166;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1096;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4174;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=5270;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=94;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=80;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=174;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27382;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19220;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46602;nhomalt_nfe=0;AC_raw=2;AF_raw=1.41713e-05;AN_raw=141130;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=508;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=538;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1046;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=662;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1748;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2410;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=29.3296;MQRankSum=0.358000;QUALapprox=278;QD=5.79167;ReadPosRankSum=0.752000;SOR=0.776000;VarDP=48;AS_FS=1.59611;AS_MQ=29.5804;AS_MQRankSum=0.198000;AS_pab_max=0.453125;AS_QUALapprox=210;AS_QD=8.07692;AS_ReadPosRankSum=0.198000;AS_SB_TABLE=21,12|7,2;AS_SOR=1.24790;AS_VarDP=26;inbreeding_coeff=-1.41715e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.30040;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|27774|8838|4679|1520|493|261|104|40|26|8|9|4|2|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18656|14117|6435|3351|1096|92|11|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.241190;cadd_phred=3.60100;phylop=-0.0680000;VRS_Allele_IDs=ga4gh:VA._6dM3F51L7zKkI6n_an81ytjW_tDn9cJ,ga4gh:VA.JihioreS3CGOT1NWKZzuPM75MSbFBg9F;VRS_Starts=5031099,5031099;VRS_Ends=5031100,5031100;VRS_States=T,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-953T>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-953T>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-953T>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-953T>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-953T>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-953T>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-953T>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-953T>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-953T>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031100	.	T	C	.	AC0;AS_VQSR	AC=0;AN=87518;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=46206;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=41312;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=9838;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=8062;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=17900;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=356;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=358;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=714;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4006;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4928;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8934;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1236;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1064;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2300;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1026;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1140;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2166;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1096;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4174;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=5270;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=94;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=80;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=174;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27384;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19220;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46604;nhomalt_nfe=0;AC_raw=1;AF_raw=7.08567e-06;AN_raw=141130;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=508;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=538;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1046;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=662;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1748;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2410;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=29.3296;MQRankSum=0.358000;QUALapprox=278;QD=5.79167;ReadPosRankSum=0.752000;SOR=0.776000;VarDP=48;AS_FS=1.81756;AS_MQ=29.0188;AS_MQRankSum=0.358000;AS_pab_max=1.00000;AS_QUALapprox=68;AS_QD=3.09091;AS_ReadPosRankSum=1.23100;AS_SB_TABLE=21,12|3,3;AS_SOR=0.299492;AS_VarDP=22;inbreeding_coeff=-7.08572e-06;AS_culprit=AS_MQ;AS_VQSLOD=-2.96650;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|27774|8838|4680|1520|493|261|104|40|26|8|9|4|2|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18657|14117|6435|3351|1096|92|11|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.289604;cadd_phred=4.16800;phylop=-0.0680000;VRS_Allele_IDs=ga4gh:VA._6dM3F51L7zKkI6n_an81ytjW_tDn9cJ,ga4gh:VA.KIiQnwatV275tQcwEhPRFRjX88fbBK16;VRS_Starts=5031099,5031099;VRS_Ends=5031100,5031100;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-953T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-953T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-953T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-953T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-953T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-953T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-953T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-953T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-953T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031101	.	A	T	.	AC0;AS_VQSR	AC=0;AN=82102;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=43498;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=38604;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=9050;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=7494;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=16544;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=340;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=336;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=676;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3728;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4630;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8358;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1152;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=998;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2150;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=956;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1052;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2008;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1012;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3646;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=4658;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=80;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=74;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=154;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26076;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18284;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=44360;nhomalt_nfe=0;AC_raw=3;AF_raw=2.19375e-05;AN_raw=136752;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=492;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=506;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=998;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=612;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1584;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2196;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=13.8985;MQ=27.4808;MQRankSum=-0.727000;QUALapprox=134;QD=3.82857;ReadPosRankSum=0.736000;SOR=2.80300;VarDP=35;AS_FS=17.3508;AS_MQ=27.8315;AS_MQRankSum=-0.736000;AS_pab_max=1.00000;AS_QUALapprox=109;AS_QD=4.03704;AS_ReadPosRankSum=0.736000;AS_SB_TABLE=16,11|0,6;AS_SOR=3.90194;AS_VarDP=27;inbreeding_coeff=-2.19380e-05;AS_culprit=AS_SOR;AS_VQSLOD=-7.41910;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|26593|8227|4127|1296|437|216|83|36|16|6|10|2|2|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|16857|13444|6268|3297|1082|92|11|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0271370;cadd_phred=1.51500;phylop=-0.295000;VRS_Allele_IDs=ga4gh:VA.ahci9URxS8oINYaMyPtWYfsgoCeM1KKf,ga4gh:VA.qmAlAfBMJFEXQKb6S3MZkEMFO-Ql6ZFx;VRS_Starts=5031100,5031100;VRS_Ends=5031101,5031101;VRS_States=A,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-952A>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-952A>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-952A>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-952A>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-952A>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-952A>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-952A>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-952A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-952A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031102	.	A	T	.	AS_VQSR	AC=1;AN=77604;AF=1.28859e-05;grpmax=amr;AC_XX=0;AF_XX=0.00000;AN_XX=41190;nhomalt_XX=0;AC_XY=1;AF_XY=2.74620e-05;AN_XY=36414;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=8530;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=7002;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=15532;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=318;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=318;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=636;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3462;nhomalt_amr_XX=0;AC_amr_XY=1;AF_amr_XY=0.000228519;AN_amr_XY=4376;nhomalt_amr_XY=0;AC_amr=1;AF_amr=0.000127584;AN_amr=7838;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1120;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=964;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2084;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=944;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1020;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1964;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=986;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3370;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=4356;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=78;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=62;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=140;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=24692;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=17308;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=42000;nhomalt_nfe=0;AC_raw=7;AF_raw=5.27625e-05;AN_raw=132670;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=452;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=472;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=924;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=608;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1522;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2130;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000127584;AN_grpmax=7838;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=67.4102;MQ=28.6051;MQRankSum=0.348000;QUALapprox=406;QD=3.35537;ReadPosRankSum=0.248000;SOR=5.35100;VarDP=121;AS_FS=67.4102;AS_MQ=28.6051;AS_MQRankSum=0.348000;AS_pab_max=1.00000;AS_QUALapprox=406;AS_QD=3.35537;AS_ReadPosRankSum=0.248000;AS_SB_TABLE=51,41|1,28;AS_SOR=5.35140;AS_VarDP=121;inbreeding_coeff=-5.27653e-05;AS_culprit=AS_SOR;AS_VQSLOD=-4.01320;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25391|7774|3783|1145|393|192|65|29|11|8|7|2|2|0|0|0;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|15660|12774|6060|3167|1041|89|11|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.239384;cadd_phred=3.58000;phylop=-1.06800;VRS_Allele_IDs=ga4gh:VA.s5ztx4nibiIqfd0g51RwyJnGHVZGKhIJ,ga4gh:VA.0OvYy5HOPQL-8ML8HgQgQnDrzlo4b3n6;VRS_Starts=5031101,5031101;VRS_Ends=5031102,5031102;VRS_States=A,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-951A>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-951A>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-951A>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-951A>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-951A>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-951A>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-951A>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-951A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-951A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031103	rs1437268287	T	C	.	AS_VQSR	AC=12;AN=88370;AF=0.000135793;grpmax=afr;fafmax_faf95_max=0.000379390;fafmax_faf95_max_gen_anc=afr;AC_XX=6;AF_XX=0.000128860;AN_XX=46562;nhomalt_XX=0;AC_XY=6;AF_XY=0.000143513;AN_XY=41808;nhomalt_XY=0;nhomalt=0;AC_afr_XX=6;AF_afr_XX=0.000601323;AN_afr_XX=9978;nhomalt_afr_XX=0;AC_afr_XY=6;AF_afr_XY=0.000727096;AN_afr_XY=8252;nhomalt_afr_XY=0;AC_afr=12;AF_afr=0.000658256;AN_afr=18230;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=350;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=354;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=704;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4038;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4954;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8992;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1254;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1090;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2344;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1008;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1126;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2134;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1090;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4280;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=5370;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=84;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=82;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=166;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=27570;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=19370;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=46940;nhomalt_nfe=0;AC_raw=36;AF_raw=0.000255254;AN_raw=141036;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=534;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=558;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1092;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=656;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1742;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2398;nhomalt_sas=0;AC_grpmax=12;AF_grpmax=0.000658256;AN_grpmax=18230;nhomalt_grpmax=0;faf95=7.82100e-05;faf95_afr=0.000379390;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=6.09700e-05;faf99_afr=0.000297330;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=0.000297330;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=1|0|0|0|1|0|1|0|0|0;age_hist_het_n_smaller=3;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=8.13354;MQ=29.7450;MQRankSum=0.198000;QUALapprox=6975;QD=12.4332;ReadPosRankSum=0.340000;SOR=0.468000;VarDP=561;AS_FS=8.13354;AS_MQ=29.7824;AS_MQRankSum=0.103000;AS_pab_max=1.00000;AS_QUALapprox=6954;AS_QD=12.5750;AS_ReadPosRankSum=0.322000;AS_SB_TABLE=113,167|145,135;AS_SOR=0.478049;AS_VarDP=553;inbreeding_coeff=0.0553144;AS_culprit=AS_MQ;AS_VQSLOD=-3.93630;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|1|1|1|1|0|0|0|0|0|2|6;gq_hist_all_bin_freq=0|0|0|0|27415|8848|4960|1709|583|346|169|49|43|18|9|7|4|1|4|6;dp_hist_alt_bin_freq=0|0|8|4|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18884|14380|6474|3263|1063|96|11|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|3|3|0|0|2|0|0|1|1|2|0|0|0|0;cadd_raw_score=0.310945;cadd_phred=4.41600;phylop=0.272000;VRS_Allele_IDs=ga4gh:VA.FQIJvG8eN-lFkInnTsI41MUoPwbWqsTT,ga4gh:VA._TFlUQ5Q5Vkqje5xa4NERWjBmLCUN1ra;VRS_Starts=5031102,5031102;VRS_Ends=5031103,5031103;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-950T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-950T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-950T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-950T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-950T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-950T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-950T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-950T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-950T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031107	rs2123012478	A	T	.	AS_VQSR	AC=4;AN=74470;AF=5.37129e-05;grpmax=eas;fafmax_faf95_max=8.09000e-06;fafmax_faf95_max_gen_anc=nfe;AC_XX=3;AF_XX=7.55820e-05;AN_XX=39692;nhomalt_XX=0;AC_XY=1;AF_XY=2.87538e-05;AN_XY=34778;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=8378;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=6970;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=15348;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=324;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=326;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=650;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3310;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4092;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=7402;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1048;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=980;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2028;nhomalt_asj=0;AC_eas_XX=1;AF_eas_XX=0.00124688;AN_eas_XX=802;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=882;nhomalt_eas_XY=0;AC_eas=1;AF_eas=0.000593824;AN_eas=1684;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=620;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2922;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=3542;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=70;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=64;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=134;nhomalt_mid=0;AC_nfe_XX=2;AF_nfe_XX=8.25014e-05;AN_nfe_XX=24242;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=16742;nhomalt_nfe_XY=0;AC_nfe=2;AF_nfe=4.87995e-05;AN_nfe=40984;nhomalt_nfe=0;AC_raw=12;AF_raw=9.29872e-05;AN_raw=129050;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=466;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=464;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=930;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=432;nhomalt_sas_XX=0;AC_sas_XY=1;AF_sas_XY=0.000748503;AN_sas_XY=1336;nhomalt_sas_XY=0;AC_sas=1;AF_sas=0.000565611;AN_sas=1768;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000593824;AN_grpmax=1684;nhomalt_grpmax=0;faf95=1.75400e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=8.09000e-06;faf95_sas=0.00000;faf99=1.04500e-05;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=3.03000e-06;faf99_sas=0.00000;fafmax_faf99_max=3.03000e-06;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=78.2622;MQ=31.0428;MQRankSum=0.480000;QUALapprox=607;QD=2.52917;ReadPosRankSum=0.0670000;SOR=5.05000;VarDP=240;AS_FS=96.8168;AS_MQ=31.3129;AS_MQRankSum=0.691000;AS_pab_max=1.00000;AS_QUALapprox=578;AS_QD=2.66359;AS_ReadPosRankSum=0.198000;AS_SB_TABLE=78,109|0,49;AS_SOR=7.16276;AS_VarDP=217;inbreeding_coeff=-9.29959e-05;AS_culprit=AS_SOR;AS_VQSLOD=-8.22350;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|2|0|1|0|0|0|0|0|0|0|0|0|1|0|0|0;gq_hist_all_bin_freq=0|0|0|0|24565|7369|3630|1055|369|149|63|16|14|3|2|0|1|0|0|0;dp_hist_alt_bin_freq=0|0|3|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|15140|12464|5658|2965|941|64|4|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|2|1|1|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.236135;cadd_phred=3.54200;phylop=-0.187000;VRS_Allele_IDs=ga4gh:VA.wWWpv7XVCkSNzWGNXRyjGf_pTFBTHH2L,ga4gh:VA.Rmud03RILWtjPdcw15OmjnHIMlov_lm-;VRS_Starts=5031106,5031106;VRS_Ends=5031107,5031107;VRS_States=A,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-946A>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-946A>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-946A>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-946A>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-946A>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-946A>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-946A>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-946A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-946A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031109	rs1987120736	G	T	.	AS_VQSR	AC=4;AN=69356;AF=5.76735e-05;grpmax=eas;AC_XX=2;AF_XX=5.39491e-05;AN_XX=37072;nhomalt_XX=0;AC_XY=2;AF_XY=6.19502e-05;AN_XY=32284;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=7952;nhomalt_afr_XX=0;AC_afr_XY=1;AF_afr_XY=0.000151699;AN_afr_XY=6592;nhomalt_afr_XY=0;AC_afr=1;AF_afr=6.87569e-05;AN_afr=14544;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=300;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=298;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=598;nhomalt_ami=0;AC_amr_XX=1;AF_amr_XX=0.000324675;AN_amr_XX=3080;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=3808;nhomalt_amr_XY=0;AC_amr=1;AF_amr=0.000145180;AN_amr=6888;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=992;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=886;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1878;nhomalt_asj=0;AC_eas_XX=1;AF_eas_XX=0.00129199;AN_eas_XX=774;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=822;nhomalt_eas_XY=0;AC_eas=1;AF_eas=0.000626566;AN_eas=1596;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=544;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2684;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=3228;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=58;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=58;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=116;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=22604;nhomalt_nfe_XX=0;AC_nfe_XY=1;AF_nfe_XY=6.45078e-05;AN_nfe_XY=15502;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=2.62426e-05;AN_nfe=38106;nhomalt_nfe=0;AC_raw=20;AF_raw=0.000160018;AN_raw=124986;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=416;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=452;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=868;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=352;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1182;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1534;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000626566;AN_grpmax=1596;nhomalt_grpmax=0;faf95=1.94600e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=1.10700e-05;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|1|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=79.6146;MQ=30.4828;MQRankSum=0.425000;QUALapprox=1567;QD=2.65593;ReadPosRankSum=0.572000;SOR=5.41900;VarDP=590;AS_FS=84.9046;AS_MQ=30.5306;AS_MQRankSum=0.572000;AS_pab_max=1.00000;AS_QUALapprox=1389;AS_QD=2.51630;AS_ReadPosRankSum=0.572000;AS_SB_TABLE=229,233|3,116;AS_SOR=6.71848;AS_VarDP=552;inbreeding_coeff=-0.000160044;AS_culprit=AS_SOR;AS_VQSLOD=-7.16520;allele_type=snv;n_alt_alleles=3;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|3|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|23059|6806|3318|972|310|127|55|12|10|3|3|0|1|0|0|0;dp_hist_alt_bin_freq=0|0|3|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14065|11539|5362|2765|878|60|7|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|3|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0703260;cadd_phred=1.83900;phylop=0.632000;VRS_Allele_IDs=ga4gh:VA.8Rt4nBqKZOAfVUf1sDtgZRG7LwgWscMa,ga4gh:VA.MKKoTyG8Oa7WQN2pR7pQH89OeynM4dGf;VRS_Starts=5031108,5031108;VRS_Ends=5031109,5031109;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-944G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-944G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-944G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-944G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-944G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-944G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-944G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-944G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-944G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031109	.	GT	G	.	AC0	AC=0;AN=69360;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=37072;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=32288;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=7950;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=6586;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=14536;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=300;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=298;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=598;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3078;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=3810;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=6888;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=992;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=886;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1878;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=776;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=822;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1598;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=544;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2684;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=3228;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=62;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=62;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=124;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=22608;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=15506;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=38114;nhomalt_nfe=0;AC_raw=2;AF_raw=1.60013e-05;AN_raw=124990;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=408;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=450;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=858;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=354;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1184;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1538;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=79.6146;MQ=30.4828;MQRankSum=0.425000;QUALapprox=1567;QD=2.65593;ReadPosRankSum=0.572000;SOR=5.41900;VarDP=590;AS_FS=.;AS_MQ=27.0000;AS_MQRankSum=0.198000;AS_pab_max=0.453125;AS_QUALapprox=102;AS_QD=6.37500;AS_ReadPosRankSum=0.198000;AS_SB_TABLE=229,233|2,2;AS_SOR=0.676054;AS_VarDP=16;inbreeding_coeff=-1.60015e-05;AS_culprit=AS_FS;AS_VQSLOD=15.3742;allele_type=del;n_alt_alleles=3;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|23060|6807|3319|973|310|127|55|12|10|3|3|0|1|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14066|11542|5362|2765|878|60|7|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.106755;cadd_phred=0.803000;phylop=0.632000;VRS_Allele_IDs=ga4gh:VA.MUlBHOWMbsD5crXBYZweexfVKO5onJc3,ga4gh:VA.rTaSkrCaW2zeUwa0bQ6VqS4jwQl8vTcs;VRS_Starts=5031108,5031109;VRS_Ends=5031110,5031111;VRS_States=GT,T;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-942del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-942del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-942del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-942del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-942del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-942del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-942del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-942del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-942del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031112	.	A	G	.	AC0;AS_VQSR	AC=0;AN=70700;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=37876;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=32824;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=7842;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=6512;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=14354;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=296;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=294;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=590;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3152;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=3822;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=6974;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1046;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=948;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1994;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=784;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=814;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1598;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=570;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2630;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=3200;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=72;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=60;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=132;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=23290;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=16036;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=39326;nhomalt_nfe=0;AC_raw=3;AF_raw=2.38398e-05;AN_raw=125840;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=434;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=422;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=856;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=390;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1286;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1676;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=86.7421;MQ=30.8891;MQRankSum=0.198000;QUALapprox=1499;QD=2.38315;ReadPosRankSum=0.623000;SOR=6.56800;VarDP=629;AS_FS=0.00000;AS_MQ=28.6959;AS_MQRankSum=-1.06700;AS_pab_max=1.00000;AS_QUALapprox=66;AS_QD=3.14286;AS_ReadPosRankSum=-0.358000;AS_SB_TABLE=237,269|2,3;AS_SOR=0.867668;AS_VarDP=21;inbreeding_coeff=-2.38404e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.68820;allele_type=snv;n_alt_alleles=4;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|23116|7001|3509|1109|382|155|47|17|8|3|2|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14045|12025|5519|2803|883|67|7|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0264550;cadd_phred=1.51000;phylop=-3.18600;VRS_Allele_IDs=ga4gh:VA.fxSy6bJC0gg7qtetcGM4tyUSS2vMGg63,ga4gh:VA.ERPLivK9t5Mb0gNqTmDzJpnRaKUtZzVU;VRS_Starts=5031111,5031111;VRS_Ends=5031112,5031112;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-941A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-941A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-941A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-941A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-941A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-941A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-941A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-941A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-941A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031112	rs2123012518	A	T	.	AS_VQSR	AC=4;AN=70690;AF=5.65851e-05;grpmax=afr;fafmax_faf95_max=2.39700e-05;fafmax_faf95_max_gen_anc=afr;AC_XX=1;AF_XX=2.64047e-05;AN_XX=37872;nhomalt_XX=0;AC_XY=3;AF_XY=9.14132e-05;AN_XY=32818;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=7848;nhomalt_afr_XX=0;AC_afr_XY=2;AF_afr_XY=0.000306654;AN_afr_XY=6522;nhomalt_afr_XY=0;AC_afr=2;AF_afr=0.000139179;AN_afr=14370;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=296;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=294;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=590;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3158;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=3822;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=6980;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1046;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=948;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1994;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=780;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=816;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1596;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=570;nhomalt_fin_XX=0;AC_fin_XY=1;AF_fin_XY=0.000380228;AN_fin_XY=2630;nhomalt_fin_XY=0;AC_fin=1;AF_fin=0.000312500;AN_fin=3200;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=62;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=56;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=118;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=4.29443e-05;AN_nfe_XX=23286;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=16034;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=2.54323e-05;AN_nfe=39320;nhomalt_nfe=0;AC_raw=26;AF_raw=0.000206615;AN_raw=125838;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=440;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=422;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=862;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=386;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1274;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1660;nhomalt_sas=0;AC_grpmax=2;AF_grpmax=0.000139179;AN_grpmax=14370;nhomalt_grpmax=0;faf95=1.92000e-05;faf95_afr=2.39700e-05;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=1.09000e-05;faf99_afr=9.58000e-06;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=9.58000e-06;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=86.7421;MQ=30.8891;MQRankSum=0.198000;QUALapprox=1499;QD=2.38315;ReadPosRankSum=0.623000;SOR=6.56800;VarDP=629;AS_FS=84.1654;AS_MQ=30.9388;AS_MQRankSum=0.198000;AS_pab_max=1.00000;AS_QUALapprox=1387;AS_QD=2.37500;AS_ReadPosRankSum=0.623000;AS_SB_TABLE=237,269|1,113;AS_SOR=7.83420;AS_VarDP=584;inbreeding_coeff=-0.000206658;AS_culprit=AS_SOR;AS_VQSLOD=-15.4038;allele_type=snv;n_alt_alleles=4;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|1|0|2|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|23116|7001|3509|1109|382|155|47|17|8|3|2|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|3|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14045|12025|5519|2803|883|67|7|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|3|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0166980;cadd_phred=1.23400;phylop=-3.18600;VRS_Allele_IDs=ga4gh:VA.fxSy6bJC0gg7qtetcGM4tyUSS2vMGg63,ga4gh:VA.jVbV_Fj5M_uwk9NG0_BN46tXFsRWnRHm;VRS_Starts=5031111,5031111;VRS_Ends=5031112,5031112;VRS_States=A,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-941A>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-941A>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-941A>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-941A>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-941A>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-941A>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-941A>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-941A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-941A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031114	.	G	T	.	AC0	AC=0;AN=77822;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=41544;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=36278;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=8604;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=7070;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=15674;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=314;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=318;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=632;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3488;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4306;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=7794;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1116;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=998;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2114;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=884;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=940;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1824;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=768;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3202;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=3970;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=72;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=62;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=134;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=25258;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=17424;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=42682;nhomalt_nfe=0;AC_raw=4;AF_raw=3.01073e-05;AN_raw=132858;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=488;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=488;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=976;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=552;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1470;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2022;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=43.3315;MQ=30.1922;MQRankSum=0.747000;QUALapprox=870;QD=5.02890;ReadPosRankSum=0.524000;SOR=3.16900;VarDP=173;AS_FS=44.7643;AS_MQ=30.2359;AS_MQRankSum=0.747000;AS_pab_max=1.00000;AS_QUALapprox=523;AS_QD=3.48667;AS_ReadPosRankSum=0.524000;AS_SB_TABLE=62,65|3,29;AS_SOR=3.95609;AS_VarDP=150;inbreeding_coeff=-3.01082e-05;AS_culprit=AS_SOR;AS_VQSLOD=-2.38930;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|24306|7942|4303|1456|516|239|86|28|17|9|3|2|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|15630|13185|6060|2991|940|88|12|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0347700;cadd_phred=1.56800;phylop=0.242000;VRS_Allele_IDs=ga4gh:VA.fGBLlemn0_QplMbVYfvdzn_RDwper8VQ,ga4gh:VA.Qqlri1MV-vq7KXLtlSl0MJ3IoRzI7Ns6;VRS_Starts=5031113,5031113;VRS_Ends=5031114,5031114;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-939G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-939G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-939G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-939G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-939G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-939G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-939G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-939G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-939G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031115	.	T	G	.	AC0;AS_VQSR	AC=0;AN=81560;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=43134;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=38426;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=9036;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=7426;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=16462;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=336;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=344;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=680;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3668;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4538;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8206;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1172;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1038;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2210;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=958;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1044;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2002;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=832;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3708;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=4540;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=90;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=78;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=168;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=25958;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18184;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=44142;nhomalt_nfe=0;AC_raw=7;AF_raw=5.14335e-05;AN_raw=136098;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=484;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=492;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=976;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=600;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1574;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2174;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=18.0272;MQ=29.6155;MQRankSum=0.731000;QUALapprox=281;QD=3.05435;ReadPosRankSum=0.742000;SOR=3.29900;VarDP=92;AS_FS=24.6426;AS_MQ=29.9151;AS_MQRankSum=0.731000;AS_pab_max=1.00000;AS_QUALapprox=262;AS_QD=3.19512;AS_ReadPosRankSum=0.742000;AS_SB_TABLE=31,46|0,13;AS_SOR=4.52024;AS_VarDP=82;inbreeding_coeff=-5.14362e-05;AS_culprit=AS_SOR;AS_VQSLOD=-8.88870;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|24988|8345|4767|1641|591|275|94|38|20|14|3|2|0|0|1|1;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|16559|13811|6309|3026|962|100|12|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0215870;cadd_phred=1.47600;phylop=0.411000;VRS_Allele_IDs=ga4gh:VA.6mrGcigMUkyIX4QHBWx63ZCcsJFmfhbZ,ga4gh:VA._POq8Hcs9TYu2wrFeNQBWOS5V2zfr0By;VRS_Starts=5031114,5031114;VRS_Ends=5031115,5031115;VRS_States=T,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-938T>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-938T>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-938T>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-938T>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-938T>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-938T>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-938T>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-938T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-938T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031116	.	G	T	.	AC0;AS_VQSR	AC=0;AN=83494;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=44262;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=39232;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=9152;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=7466;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=16618;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=346;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=336;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=682;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3778;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4666;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8444;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1186;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1064;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2250;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=976;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1094;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2070;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=994;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3782;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=4776;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=82;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=78;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=160;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26580;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18592;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=45172;nhomalt_nfe=0;AC_raw=2;AF_raw=1.45529e-05;AN_raw=137430;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=508;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=506;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1014;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=660;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1648;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2308;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=31.1885;MQRankSum=0.572000;QUALapprox=76;QD=3.04000;ReadPosRankSum=-0.572000;SOR=0.616000;VarDP=25;AS_FS=0.00000;AS_MQ=31.1885;AS_MQRankSum=0.572000;AS_pab_max=0.687500;AS_QUALapprox=76;AS_QD=3.04000;AS_ReadPosRankSum=-0.572000;AS_SB_TABLE=8,12|2,3;AS_SOR=0.616304;AS_VarDP=25;inbreeding_coeff=-1.45531e-05;AS_culprit=AS_QD;AS_VQSLOD=-3.67650;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25247|8608|4981|1740|640|332|116|37|21|17|3|4|0|0|0|1;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|17077|14109|6427|3053|968|99|13|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0407140;cadd_phred=1.61100;phylop=0.288000;VRS_Allele_IDs=ga4gh:VA.VqhwYi1kDrKw6JTVCGG3oQ1kWskY-g10,ga4gh:VA.vdsKFqlgXCnTlZLEvfzdsOxNgIMAU98q;VRS_Starts=5031115,5031115;VRS_Ends=5031116,5031116;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-937G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-937G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-937G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-937G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-937G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-937G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-937G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-937G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-937G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031118	.	C	G	.	AC0;AS_VQSR	AC=0;AN=76166;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=40568;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=35598;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=8262;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=6772;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=15034;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=314;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=324;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=638;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3370;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4188;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=7558;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1110;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1008;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2118;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=882;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=964;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1846;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=736;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3170;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=3906;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=66;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=56;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=122;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=24812;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=17212;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=42024;nhomalt_nfe=0;AC_raw=1;AF_raw=7.64164e-06;AN_raw=130862;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=442;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=452;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=894;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=574;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1452;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2026;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=57.8144;MQ=29.7118;MQRankSum=0.727000;QUALapprox=527;QD=2.99432;ReadPosRankSum=0.296000;SOR=5.21900;VarDP=176;AS_FS=12.1412;AS_MQ=27.4919;AS_MQRankSum=1.04400;AS_pab_max=0.125000;AS_QUALapprox=76;AS_QD=1.85366;AS_ReadPosRankSum=0.589000;AS_SB_TABLE=71,76|0,5;AS_SOR=3.48052;AS_VarDP=41;inbreeding_coeff=-7.64170e-06;AS_culprit=AS_SOR;AS_VQSLOD=-6.62570;allele_type=snv;n_alt_alleles=4;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|23439|7947|4278|1491|552|241|76|30|15|11|3|2|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14857|13116|6111|2955|942|92|11|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0983700;cadd_phred=2.07600;phylop=-0.811000;VRS_Allele_IDs=ga4gh:VA.zvp8RCAs9_yLDpRWs6JbXoA0AKJbE7bO,ga4gh:VA.tNKcqJVlquTFrhuk2zPg5rI6TpzpyL-M;VRS_Starts=5031117,5031117;VRS_Ends=5031118,5031118;VRS_States=C,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-935C>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-935C>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-935C>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-935C>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-935C>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-935C>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-935C>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-935C>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-935C>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031118	.	C	T	.	AC0;AS_VQSR	AC=0;AN=76170;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=40572;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=35598;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=8250;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=6758;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=15008;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=314;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=324;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=638;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3366;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4188;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=7554;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1110;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1008;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2118;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=886;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=962;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1848;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=736;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3170;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=3906;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=72;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=60;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=132;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=24820;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=17218;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=42038;nhomalt_nfe=0;AC_raw=3;AF_raw=2.29235e-05;AN_raw=130870;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=436;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=448;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=884;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=582;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1462;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2044;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=57.8144;MQ=29.7118;MQRankSum=0.727000;QUALapprox=527;QD=2.99432;ReadPosRankSum=0.296000;SOR=5.21900;VarDP=176;AS_FS=43.6799;AS_MQ=30.4683;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=372;AS_QD=3.00000;AS_ReadPosRankSum=0.296000;AS_SB_TABLE=71,76|1,21;AS_SOR=4.67092;AS_VarDP=124;inbreeding_coeff=-2.29240e-05;AS_culprit=AS_SOR;AS_VQSLOD=-5.50010;allele_type=snv;n_alt_alleles=4;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|23439|7947|4278|1491|552|241|76|30|15|11|3|2|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14857|13116|6111|2955|942|92|11|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.140643;cadd_phred=2.47900;phylop=-0.811000;VRS_Allele_IDs=ga4gh:VA.zvp8RCAs9_yLDpRWs6JbXoA0AKJbE7bO,ga4gh:VA.xbvKG0sQNuOz4wtkq3KqssEk-Luu3GbS;VRS_Starts=5031117,5031117;VRS_Ends=5031118,5031118;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-935C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-935C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-935C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-935C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-935C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-935C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-935C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-935C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-935C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031119	.	T	C	.	AC0;AS_VQSR	AC=0;AN=82656;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=43738;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=38918;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=8946;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=7304;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=16250;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=336;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=348;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=684;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3774;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4662;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8436;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1174;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1070;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2244;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=982;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1040;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2022;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=964;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3890;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=4854;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=88;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=76;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=164;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26330;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18362;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=44692;nhomalt_nfe=0;AC_raw=1;AF_raw=7.29948e-06;AN_raw=136996;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=476;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=508;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=984;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=668;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1658;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2326;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=4.82164e-16;MQ=32.9886;MQRankSum=0.736000;QUALapprox=79;QD=3.95000;ReadPosRankSum=0.736000;SOR=0.693000;VarDP=20;AS_FS=0.00000;AS_MQ=32.5381;AS_MQRankSum=0.736000;AS_pab_max=1.00000;AS_QUALapprox=61;AS_QD=5.54545;AS_ReadPosRankSum=0.736000;AS_SB_TABLE=5,11|1,2;AS_SOR=0.446287;AS_VarDP=11;inbreeding_coeff=-7.29954e-06;AS_culprit=AS_MQ;AS_VQSLOD=-2.77720;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|24318|8746|5145|1857|684|356|121|45|33|16|4|2|1|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|16583|14192|6462|3010|967|99|14|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.295188;cadd_phred=4.23300;phylop=0.438000;VRS_Allele_IDs=ga4gh:VA.U__OVNPMghXXobsZyxoJSS9fZmT_yeCk,ga4gh:VA.1QOW8hghtv30nh2AakplxvFOoA9QAc19;VRS_Starts=5031118,5031118;VRS_Ends=5031119,5031119;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-934T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-934T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-934T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-934T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-934T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-934T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-934T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-934T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-934T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031120	.	T	C	.	AC0	AC=0;AN=84152;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=44446;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=39706;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=9232;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=7508;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=16740;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=344;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=344;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=688;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3840;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4728;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8568;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1186;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1080;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2266;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=980;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1084;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2064;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1002;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4120;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=5122;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=84;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=76;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=160;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26602;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18580;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=45182;nhomalt_nfe=0;AC_raw=2;AF_raw=1.44668e-05;AN_raw=138248;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=498;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=524;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1022;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=678;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1662;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2340;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=4.07485;MQ=31.8002;MQRankSum=0.382000;QUALapprox=271;QD=10.0370;ReadPosRankSum=0.727000;SOR=0.190000;VarDP=27;AS_FS=8.10233;AS_MQ=32.7414;AS_MQRankSum=0.727000;AS_pab_max=0.625000;AS_QUALapprox=80;AS_QD=5.00000;AS_ReadPosRankSum=0.727000;AS_SB_TABLE=13,3|1,2;AS_SOR=0.846569;AS_VarDP=16;inbreeding_coeff=-1.44670e-05;AS_culprit=AS_MQ;AS_VQSLOD=-2.12630;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|24717|8866|5289|1895|702|368|136|46|34|16|4|2|1|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|17126|14362|6488|3019|968|98|14|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.303641;cadd_phred=4.33100;phylop=-0.226000;VRS_Allele_IDs=ga4gh:VA.hAkQ8N8soMpnpWxCvOVaHuO-mTKOh1fE,ga4gh:VA.N72B05Up7UUzArECmHv-pI2Smw42vdHf;VRS_Starts=5031119,5031119;VRS_Ends=5031120,5031120;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-933T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-933T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-933T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-933T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-933T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-933T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-933T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-933T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-933T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031121	.	T	C	.	AC0;AS_VQSR	AC=0;AN=82378;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=43582;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=38796;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=9008;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=7368;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=16376;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=340;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=338;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=678;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3744;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4606;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8350;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1158;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1056;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2214;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=972;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1068;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2040;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=894;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3830;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=4724;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=86;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=78;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=164;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26236;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18280;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=44516;nhomalt_nfe=0;AC_raw=2;AF_raw=1.46482e-05;AN_raw=136536;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=480;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=520;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1000;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=664;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1652;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2316;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=3.27778;MQ=30.6045;MQRankSum=0.727000;QUALapprox=451;QD=3.95614;ReadPosRankSum=0.736000;SOR=1.10700;VarDP=114;AS_FS=2.74683;AS_MQ=28.5478;AS_MQRankSum=0.720000;AS_pab_max=0.687500;AS_QUALapprox=174;AS_QD=3.62500;AS_ReadPosRankSum=0.727000;AS_SB_TABLE=40,53|6,5;AS_SOR=0.661443;AS_VarDP=48;inbreeding_coeff=-1.46484e-05;AS_culprit=AS_MQ;AS_VQSLOD=-2.81350;negative_train_site;allele_type=snv;n_alt_alleles=6;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|24361|8632|5115|1822|681|351|132|41|33|14|4|2|1|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|16591|14102|6425|2999|962|95|14|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.310040;cadd_phred=4.40500;phylop=-0.343000;VRS_Allele_IDs=ga4gh:VA.Tel7VkEcbEBxLQQDZ994je9nmTX2dxpx,ga4gh:VA.N5qKgROi6sGmxzH_Y197AVO92gdYuLpH;VRS_Starts=5031120,5031120;VRS_Ends=5031121,5031121;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-932T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-932T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-932T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-932T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-932T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-932T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-932T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-932T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-932T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031121	.	TCACC	T	.	AC0	AC=0;AN=82378;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=43582;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=38796;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=9008;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=7368;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=16376;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=340;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=338;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=678;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3744;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4606;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8350;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1158;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1056;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2214;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=972;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1068;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2040;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=894;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3830;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=4724;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=86;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=78;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=164;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26236;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18280;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=44516;nhomalt_nfe=0;AC_raw=1;AF_raw=7.32408e-06;AN_raw=136536;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=480;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=520;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1000;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=664;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1652;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2316;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=3.27778;MQ=30.6045;MQRankSum=0.727000;QUALapprox=451;QD=3.95614;ReadPosRankSum=0.736000;SOR=1.10700;VarDP=114;AS_FS=2.94753;AS_MQ=33.1788;AS_MQRankSum=0.747000;AS_pab_max=0.625000;AS_QUALapprox=80;AS_QD=6.66667;AS_ReadPosRankSum=0.736000;AS_SB_TABLE=40,53|0,2;AS_SOR=1.82266;AS_VarDP=12;inbreeding_coeff=-7.32413e-06;AS_culprit=AS_SOR;AS_VQSLOD=-0.275600;negative_train_site;allele_type=del;n_alt_alleles=6;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|24361|8632|5115|1822|681|351|132|41|33|14|4|2|1|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|16591|14102|6425|2999|962|95|14|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0499890;cadd_phred=1.05300;phylop=-0.343000;VRS_Allele_IDs=ga4gh:VA.F6owCj7gSZXwprakgHBG7sRqe7obwuLP,ga4gh:VA.U_lvAxyPfWxZeFqYcudbKmP8Qg0iXKr5;VRS_Starts=5031120,5031121;VRS_Ends=5031125,5031125;VRS_States=TCACC,;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-931_698-928del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-931_347-928del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-931_347-928del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-931_*312-928del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-931_698-928del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-931_698-928del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-931_698-928del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-931_698-928del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-931_698-928del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031122	.	C	A	.	AS_VQSR	AC=3;AN=75024;AF=3.99872e-05;grpmax=afr;fafmax_faf95_max=8.00000e-06;fafmax_faf95_max_gen_anc=nfe;AC_XX=1;AF_XX=2.50916e-05;AN_XX=39854;nhomalt_XX=0;AC_XY=2;AF_XY=5.68666e-05;AN_XY=35170;nhomalt_XY=0;nhomalt=0;AC_afr_XX=1;AF_afr_XX=0.000125502;AN_afr_XX=7968;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=6558;nhomalt_afr_XY=0;AC_afr=1;AF_afr=6.88421e-05;AN_afr=14526;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=290;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=324;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=614;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3424;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4228;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=7652;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1060;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=966;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2026;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=828;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=904;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1732;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=652;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3270;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=3922;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=68;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=58;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=126;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=24568;nhomalt_nfe_XX=0;AC_nfe_XY=2;AF_nfe_XY=0.000118427;AN_nfe_XY=16888;nhomalt_nfe_XY=0;AC_nfe=2;AF_nfe=4.82439e-05;AN_nfe=41456;nhomalt_nfe=0;AC_raw=20;AF_raw=0.000157848;AN_raw=126704;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=466;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=486;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=952;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=530;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1488;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2018;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=6.88421e-05;AN_grpmax=14526;nhomalt_grpmax=0;faf95=1.06200e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=8.00000e-06;faf95_sas=0.00000;faf99=4.94000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=2.99000e-06;faf99_sas=0.00000;fafmax_faf99_max=2.99000e-06;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|0|1|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=77.6969;MQ=29.7799;MQRankSum=0.198000;QUALapprox=10264;QD=5.65198;ReadPosRankSum=0.537000;SOR=4.63300;VarDP=1816;AS_FS=27.5044;AS_MQ=30.4733;AS_MQRankSum=0.0670000;AS_pab_max=0.625000;AS_QUALapprox=671;AS_QD=1.59762;AS_ReadPosRankSum=0.315000;AS_SB_TABLE=644,649|1,72;AS_SOR=7.17994;AS_VarDP=420;inbreeding_coeff=-0.000157873;AS_culprit=AS_SOR;AS_VQSLOD=-30.9885;allele_type=snv;n_alt_alleles=3;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|3|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|22205|7884|4606|1678|615|323|118|32|27|14|6|3|1|0|0|5;dp_hist_alt_bin_freq=0|0|3|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14775|12808|6026|2882|930|84|11|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|2|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.124423;cadd_phred=2.31800;phylop=0.295000;VRS_Allele_IDs=ga4gh:VA.QDN6VM5sPygbovCpDaMPaQTRvxlVII92,ga4gh:VA.mXHqliZ0AealFP_28pu92_ZH9rDV-jCA;VRS_Starts=5031121,5031121;VRS_Ends=5031122,5031122;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-931C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-931C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-931C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-931C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-931C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-931C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-931C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-931C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-931C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031122	rs1344758965	C	T	.	AS_VQSR	AC=6;AN=75042;AF=7.99552e-05;grpmax=nfe;fafmax_faf95_max=4.73600e-05;fafmax_faf95_max_gen_anc=nfe;AC_XX=3;AF_XX=7.52559e-05;AN_XX=39864;nhomalt_XX=0;AC_XY=3;AF_XY=8.52806e-05;AN_XY=35178;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=7960;nhomalt_afr_XX=0;AC_afr_XY=1;AF_afr_XY=0.000152625;AN_afr_XY=6552;nhomalt_afr_XY=0;AC_afr=1;AF_afr=6.89085e-05;AN_afr=14512;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=290;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=324;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=614;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3420;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4230;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=7650;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1060;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=966;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2026;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=832;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=904;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1736;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=652;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3270;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=3922;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=78;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=62;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=140;nhomalt_mid=0;AC_nfe_XX=3;AF_nfe_XX=0.000122050;AN_nfe_XX=24580;nhomalt_nfe_XX=0;AC_nfe_XY=2;AF_nfe_XY=0.000118399;AN_nfe_XY=16892;nhomalt_nfe_XY=0;AC_nfe=5;AF_nfe=0.000120563;AN_nfe=41472;nhomalt_nfe=0;AC_raw=8;AF_raw=6.31353e-05;AN_raw=126712;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=458;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=480;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=938;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=534;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1498;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2032;nhomalt_sas=0;AC_grpmax=5;AF_grpmax=0.000120563;AN_grpmax=41472;nhomalt_grpmax=0;faf95=3.46700e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=4.73600e-05;faf95_sas=0.00000;faf99=2.28200e-05;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=3.05100e-05;faf99_sas=0.00000;fafmax_faf99_max=3.05100e-05;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|1|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=77.6969;MQ=29.7799;MQRankSum=0.198000;QUALapprox=10264;QD=5.65198;ReadPosRankSum=0.537000;SOR=4.63300;VarDP=1816;AS_FS=14.4768;AS_MQ=31.3389;AS_MQRankSum=-0.322000;AS_pab_max=1.00000;AS_QUALapprox=4142;AS_QD=15.8092;AS_ReadPosRankSum=-0.711000;AS_SB_TABLE=644,649|39,117;AS_SOR=2.25854;AS_VarDP=262;inbreeding_coeff=-6.31393e-05;AS_culprit=AS_SOR;AS_VQSLOD=-4.79210;allele_type=snv;n_alt_alleles=3;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|5;gq_hist_all_bin_freq=0|0|0|0|22206|7885|4607|1679|615|323|118|32|27|14|6|3|1|0|0|5;dp_hist_alt_bin_freq=0|0|2|2|1|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14776|12810|6027|2882|930|84|11|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|1|1|1|1|1|0|0|1|0|0|0|0;cadd_raw_score=0.183948;cadd_phred=2.94200;phylop=0.295000;VRS_Allele_IDs=ga4gh:VA.QDN6VM5sPygbovCpDaMPaQTRvxlVII92,ga4gh:VA.P3hWwYKN262HUaPXRSjys6ZAavewCW_q;VRS_Starts=5031121,5031121;VRS_Ends=5031122,5031122;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-931C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-931C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-931C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-931C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-931C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-931C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-931C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-931C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-931C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031122	rs1156940977	CA	C	.	AS_VQSR	AC=7;AN=75022;AF=9.33060e-05;grpmax=afr;fafmax_faf95_max=5.56100e-05;fafmax_faf95_max_gen_anc=afr;AC_XX=5;AF_XX=0.000125452;AN_XX=39856;nhomalt_XX=0;AC_XY=2;AF_XY=5.68731e-05;AN_XY=35166;nhomalt_XY=0;nhomalt=0;AC_afr_XX=1;AF_afr_XX=0.000125660;AN_afr_XX=7958;nhomalt_afr_XX=0;AC_afr_XY=2;AF_afr_XY=0.000305250;AN_afr_XY=6552;nhomalt_afr_XY=0;AC_afr=3;AF_afr=0.000206754;AN_afr=14510;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=290;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=324;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=614;nhomalt_ami=0;AC_amr_XX=1;AF_amr_XX=0.000292740;AN_amr_XX=3416;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4230;nhomalt_amr_XY=0;AC_amr=1;AF_amr=0.000130787;AN_amr=7646;nhomalt_amr=0;AC_asj_XX=1;AF_asj_XX=0.000943396;AN_asj_XX=1060;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=966;nhomalt_asj_XY=0;AC_asj=1;AF_asj=0.000493583;AN_asj=2026;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=832;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=904;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1736;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=652;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3270;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=3922;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=78;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=62;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=140;nhomalt_mid=0;AC_nfe_XX=2;AF_nfe_XX=8.13736e-05;AN_nfe_XX=24578;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=16882;nhomalt_nfe_XY=0;AC_nfe=2;AF_nfe=4.82393e-05;AN_nfe=41460;nhomalt_nfe=0;AC_raw=75;AF_raw=0.000591893;AN_raw=126712;nhomalt_raw=2;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=458;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=480;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=938;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=534;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1496;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2030;nhomalt_sas=0;AC_grpmax=3;AF_grpmax=0.000206754;AN_grpmax=14510;nhomalt_grpmax=0;faf95=4.36800e-05;faf95_afr=5.56100e-05;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=7.99000e-06;faf95_sas=0.00000;faf99=3.08400e-05;faf99_afr=2.91100e-05;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=2.99000e-06;faf99_sas=0.00000;fafmax_faf99_max=2.91100e-05;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|1|1;age_hist_het_n_smaller=1;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=77.6969;MQ=29.7799;MQRankSum=0.198000;QUALapprox=10264;QD=5.65198;ReadPosRankSum=0.537000;SOR=4.63300;VarDP=1816;AS_FS=93.0953;AS_MQ=29.1460;AS_MQRankSum=0.296000;AS_pab_max=1.00000;AS_QUALapprox=5451;AS_QD=4.80688;AS_ReadPosRankSum=0.727000;AS_SB_TABLE=644,649|6,288;AS_SOR=7.42618;AS_VarDP=1134;inbreeding_coeff=0.0527727;AS_culprit=AS_FS;AS_VQSLOD=-51.0399;allele_type=del;n_alt_alleles=3;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|1|2|1|1|1|1|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|22204|7881|4607|1677|613|323|118|32|27|14|6|3|1|0|0|5;dp_hist_alt_bin_freq=0|0|6|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14767|12809|6027|2882|930|84|11|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|4|2|1|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0522820;cadd_phred=1.04200;phylop=0.295000;VRS_Allele_IDs=ga4gh:VA.6QSHrmgrFyDfr7dbKklTZZ0M6GpaIHHv,ga4gh:VA.4WDPW6txDXQGbZFsCYMbf1AXbKo7yPCM;VRS_Starts=5031121,5031122;VRS_Ends=5031123,5031123;VRS_States=CA,;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-930del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-930del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-930del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-930del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-930del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-930del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-930del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-930del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-930del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031123	rs1421383796	A	C	.	AS_VQSR	AC=76;AN=52476;AF=0.00144828;grpmax=amr;fafmax_faf95_max=0.00159674;fafmax_faf95_max_gen_anc=amr;AC_XX=41;AF_XX=0.00146418;AN_XX=28002;nhomalt_XX=0;AC_XY=35;AF_XY=0.00143009;AN_XY=24474;nhomalt_XY=0;nhomalt=0;AC_afr_XX=10;AF_afr_XX=0.00187406;AN_afr_XX=5336;nhomalt_afr_XX=0;AC_afr_XY=3;AF_afr_XY=0.000678119;AN_afr_XY=4424;nhomalt_afr_XY=0;AC_afr=13;AF_afr=0.00133197;AN_afr=9760;nhomalt_afr=0;AC_ami_XX=1;AF_ami_XX=0.00531915;AN_ami_XX=188;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=214;nhomalt_ami_XY=0;AC_ami=1;AF_ami=0.00248756;AN_ami=402;nhomalt_ami=0;AC_amr_XX=5;AF_amr_XX=0.00215146;AN_amr_XX=2324;nhomalt_amr_XX=0;AC_amr_XY=9;AF_amr_XY=0.00302623;AN_amr_XY=2974;nhomalt_amr_XY=0;AC_amr=14;AF_amr=0.00264251;AN_amr=5298;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=808;nhomalt_asj_XX=0;AC_asj_XY=1;AF_asj_XY=0.00144928;AN_asj_XY=690;nhomalt_asj_XY=0;AC_asj=1;AF_asj=0.000667557;AN_asj=1498;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=626;nhomalt_eas_XX=0;AC_eas_XY=1;AF_eas_XY=0.00161812;AN_eas_XY=618;nhomalt_eas_XY=0;AC_eas=1;AF_eas=0.000803859;AN_eas=1244;nhomalt_eas=0;AC_fin_XX=2;AF_fin_XX=0.00344828;AN_fin_XX=580;nhomalt_fin_XX=0;AC_fin_XY=1;AF_fin_XY=0.000496032;AN_fin_XY=2016;nhomalt_fin_XY=0;AC_fin=3;AF_fin=0.00115562;AN_fin=2596;nhomalt_fin=0;AC_mid_XX=2;AF_mid_XX=0.0588235;AN_mid_XX=34;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=34;nhomalt_mid_XY=0;AC_mid=2;AF_mid=0.0294118;AN_mid=68;nhomalt_mid=0;AC_nfe_XX=20;AF_nfe_XX=0.00115580;AN_nfe_XX=17304;nhomalt_nfe_XX=0;AC_nfe_XY=18;AF_nfe_XY=0.00148613;AN_nfe_XY=12112;nhomalt_nfe_XY=0;AC_nfe=38;AF_nfe=0.00129181;AN_nfe=29416;nhomalt_nfe=0;AC_raw=332;AF_raw=0.00321861;AN_raw=103150;nhomalt_raw=1;AC_remaining_XX=1;AF_remaining_XX=0.00301205;AN_remaining_XX=332;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=338;nhomalt_remaining_XY=0;AC_remaining=1;AF_remaining=0.00149254;AN_remaining=670;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=470;nhomalt_sas_XX=0;AC_sas_XY=2;AF_sas_XY=0.00189753;AN_sas_XY=1054;nhomalt_sas_XY=0;AC_sas=2;AF_sas=0.00131234;AN_sas=1524;nhomalt_sas=0;AC_grpmax=14;AF_grpmax=0.00264251;AN_grpmax=5298;nhomalt_grpmax=0;faf95=0.00118533;faf95_afr=0.000787350;faf95_amr=0.00159674;faf95_eas=0.00000;faf95_nfe=0.000966770;faf95_sas=0.000232380;faf99=0.00108995;faf99_afr=0.000624380;faf99_amr=0.00127978;faf99_eas=0.00000;faf99_nfe=0.000853780;faf99_sas=9.66900e-05;fafmax_faf99_max=0.00127978;fafmax_faf99_max_gen_anc=amr;age_hist_het_bin_freq=2|2|5|2|5|3|4|2|3|0;age_hist_het_n_smaller=4;age_hist_het_n_larger=1;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=89.2479;MQ=31.6921;MQRankSum=0.365000;QUALapprox=21050;QD=2.30357;ReadPosRankSum=0.107000;SOR=7.54900;VarDP=9138;AS_FS=85.6272;AS_MQ=31.7157;AS_MQRankSum=0.365000;AS_pab_max=1.00000;AS_QUALapprox=19607;AS_QD=2.20502;AS_ReadPosRankSum=0.0670000;AS_SB_TABLE=2744,4089|20,2209;AS_SOR=8.51512;AS_VarDP=8892;inbreeding_coeff=0.00281454;AS_culprit=AS_SOR;AS_VQSLOD=-22.2100;allele_type=snv;n_alt_alleles=5;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|20|20|7|8|10|1|5|0|2|0|2|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|16294|5430|2767|1011|342|220|92|39|12|21|10|2|4|0|0|1;dp_hist_alt_bin_freq=0|0|47|17|10|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9421|9092|4640|2276|735|70|10|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|29|26|14|2|4|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.282728;cadd_phred=4.08800;phylop=-0.579000;VRS_Allele_IDs=ga4gh:VA.VwXctrYzexUGSYHXYLZ5oWkZw0KxlwkL,ga4gh:VA.fSeuqp3xZQVqAEOl4h4RbNPvaIX02p_w;VRS_Starts=5031122,5031122;VRS_Ends=5031123,5031123;VRS_States=A,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-930A>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-930A>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-930A>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-930A>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-930A>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-930A>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-930A>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-930A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-930A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031123	rs1421383796	A	G	.	AS_VQSR	AC=1;AN=52536;AF=1.90346e-05;AC_XX=0;AF_XX=0.00000;AN_XX=28042;nhomalt_XX=0;AC_XY=1;AF_XY=4.08263e-05;AN_XY=24494;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5336;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4420;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9756;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=190;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=214;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=404;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2326;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2976;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=5302;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=808;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=690;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1498;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=630;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=614;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1244;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=584;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2016;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2600;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=36;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=34;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=70;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=17328;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=12126;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=29454;nhomalt_nfe=0;AC_raw=2;AF_raw=1.93855e-05;AN_raw=103170;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=326;nhomalt_remaining_XX=0;AC_remaining_XY=1;AF_remaining_XY=0.00294118;AN_remaining_XY=340;nhomalt_remaining_XY=0;AC_remaining=1;AF_remaining=0.00150150;AN_remaining=666;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=478;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1064;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1542;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=1|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=89.2479;MQ=31.6921;MQRankSum=0.365000;QUALapprox=21050;QD=2.30357;ReadPosRankSum=0.107000;SOR=7.54900;VarDP=9138;AS_FS=.;AS_MQ=30.0568;AS_MQRankSum=-0.322000;AS_pab_max=0.480682;AS_QUALapprox=298;AS_QD=7.64103;AS_ReadPosRankSum=0.0670000;AS_SB_TABLE=2744,4089|3,12;AS_SOR=1.75055;AS_VarDP=39;inbreeding_coeff=-1.93859e-05;AS_culprit=AS_MQ;AS_VQSLOD=-4.00910;allele_type=snv;n_alt_alleles=5;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|16304|5431|2774|1013|343|220|93|39|12|21|10|3|4|0|0|1;dp_hist_alt_bin_freq=0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9432|9100|4643|2277|735|70|10|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0;cadd_raw_score=0.312396;cadd_phred=4.43300;phylop=-0.579000;VRS_Allele_IDs=ga4gh:VA.VwXctrYzexUGSYHXYLZ5oWkZw0KxlwkL,ga4gh:VA.CxtEmAlZu2jCPVVi36QG5oi2a22giBWC;VRS_Starts=5031122,5031122;VRS_Ends=5031123,5031123;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-930A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-930A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-930A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-930A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-930A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-930A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-930A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-930A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-930A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031123	rs1421383796	A	T	.	AS_VQSR	AC=1;AN=52532;AF=1.90360e-05;grpmax=nfe;AC_XX=1;AF_XX=3.56633e-05;AN_XX=28040;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=24492;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5336;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4418;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9754;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=190;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=214;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=404;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2326;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2976;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=5302;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=808;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=690;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1498;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=628;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=614;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1242;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=584;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2016;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2600;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=36;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=34;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=70;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=5.77101e-05;AN_nfe_XX=17328;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=12126;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=3.39512e-05;AN_nfe=29454;nhomalt_nfe=0;AC_raw=9;AF_raw=8.72347e-05;AN_raw=103170;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=326;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=340;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=666;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=478;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1064;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1542;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=3.39512e-05;AN_grpmax=29454;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=89.2479;MQ=31.6921;MQRankSum=0.365000;QUALapprox=21050;QD=2.30357;ReadPosRankSum=0.107000;SOR=7.54900;VarDP=9138;AS_FS=.;AS_MQ=31.4570;AS_MQRankSum=0.898000;AS_pab_max=1.00000;AS_QUALapprox=566;AS_QD=3.87671;AS_ReadPosRankSum=0.437000;AS_SB_TABLE=2744,4089|2,34;AS_SOR=4.13212;AS_VarDP=146;inbreeding_coeff=-8.72423e-05;AS_culprit=AS_SOR;AS_VQSLOD=-14.1091;allele_type=snv;n_alt_alleles=5;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|16302|5431|2774|1013|343|220|93|39|12|21|10|3|4|0|0|1;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9430|9100|4643|2277|735|70|10|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.269242;cadd_phred=3.93000;phylop=-0.579000;VRS_Allele_IDs=ga4gh:VA.VwXctrYzexUGSYHXYLZ5oWkZw0KxlwkL,ga4gh:VA.zyA7LT1oSlv4thjKbyq9jff6hrew80gk;VRS_Starts=5031122,5031122;VRS_Ends=5031123,5031123;VRS_States=A,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-930A>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-930A>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-930A>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-930A>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-930A>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-930A>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-930A>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-930A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-930A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031123	rs1380871438	AC	A	.	AC0	AC=0;AN=52536;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=28042;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=24494;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5336;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4420;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9756;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=190;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=214;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=404;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2326;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2976;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=5302;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=808;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=690;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1498;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=630;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=614;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1244;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=584;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2016;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2600;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=36;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=34;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=70;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=17328;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=12126;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=29454;nhomalt_nfe=0;AC_raw=4;AF_raw=3.87710e-05;AN_raw=103170;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=326;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=340;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=666;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=478;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1064;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1542;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=89.2479;MQ=31.6921;MQRankSum=0.365000;QUALapprox=21050;QD=2.30357;ReadPosRankSum=0.107000;SOR=7.54900;VarDP=9138;AS_FS=.;AS_MQ=29.5137;AS_MQRankSum=-0.421000;AS_pab_max=1.00000;AS_QUALapprox=548;AS_QD=10.5385;AS_ReadPosRankSum=0.572000;AS_SB_TABLE=2744,4089|9,15;AS_SOR=0.766922;AS_VarDP=52;inbreeding_coeff=0.499981;AS_culprit=AS_FS;AS_VQSLOD=16.1373;allele_type=del;n_alt_alleles=5;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|16304|5431|2774|1013|343|220|93|39|12|21|10|3|4|0|0|1;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9432|9100|4643|2277|735|70|10|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0528460;cadd_phred=1.03900;phylop=-0.579000;VRS_Allele_IDs=ga4gh:VA.rhCkTUc_2mLlYhiiuoi1aiv9anlbOT3G,ga4gh:VA.1qyjrgQenW6yUlqlx8NAI1Uh83-s-HZl;VRS_Starts=5031122,5031123;VRS_Ends=5031124,5031125;VRS_States=AC,C;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-928del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-928del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-928del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-928del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-928del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-928del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-928del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-928del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-928del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031124	rs1172746738	C	A	.	AS_VQSR	AC=1;AN=79352;AF=1.26021e-05;grpmax=afr;AC_XX=1;AF_XX=2.37462e-05;AN_XX=42112;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=37240;nhomalt_XY=0;nhomalt=0;AC_afr_XX=1;AF_afr_XX=0.000116741;AN_afr_XX=8566;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=6944;nhomalt_afr_XY=0;AC_afr=1;AF_afr=6.44745e-05;AN_afr=15510;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=336;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=326;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=662;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3604;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4442;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8046;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1142;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1022;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2164;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=928;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1014;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1942;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=844;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3528;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=4372;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=84;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=72;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=156;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=25478;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=17780;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=43258;nhomalt_nfe=0;AC_raw=3;AF_raw=2.29628e-05;AN_raw=130646;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=478;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=492;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=970;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=652;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1620;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2272;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=6.44745e-05;AN_grpmax=15510;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|1;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=5.04532;MQ=30.1019;MQRankSum=-0.354000;QUALapprox=1939;QD=13.2808;ReadPosRankSum=-0.354000;SOR=1.10100;VarDP=146;AS_FS=8.88901;AS_MQ=31.9561;AS_MQRankSum=0.231000;AS_pab_max=1.00000;AS_QUALapprox=536;AS_QD=13.0732;AS_ReadPosRankSum=-0.358000;AS_SB_TABLE=32,42|13,7;AS_SOR=1.29513;AS_VarDP=41;inbreeding_coeff=-2.29633e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.46410;allele_type=snv;n_alt_alleles=4;variant_type=mixed;was_mixed;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0;gq_hist_all_bin_freq=0|0|0|0|20639|8011|5745|2655|976|852|397|126|147|64|24|21|11|2|4|2;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|15346|13706|6729|2866|901|108|15|4|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0;cadd_raw_score=0.132729;cadd_phred=2.40000;phylop=0.0520000;VRS_Allele_IDs=ga4gh:VA.ekDNO6YxzK99YngHJ1gtnM7fFSarafgT,ga4gh:VA.Z8IlfZRVNM0ncqIhENILRQtHtF5OXQIN;VRS_Starts=5031123,5031123;VRS_Ends=5031124,5031124;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-929C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-929C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-929C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-929C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-929C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-929C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-929C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-929C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-929C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031125	rs1218191980	C	CT	.	PASS	AC=471;AN=52740;AF=0.00893060;grpmax=afr;fafmax_faf95_max=0.0122562;fafmax_faf95_max_gen_anc=afr;AC_XX=273;AF_XX=0.00967948;AN_XX=28204;nhomalt_XX=9;AC_XY=198;AF_XY=0.00806978;AN_XY=24536;nhomalt_XY=6;nhomalt=15;AC_afr_XX=78;AF_afr_XX=0.0155255;AN_afr_XX=5024;nhomalt_afr_XX=2;AC_afr_XY=52;AF_afr_XY=0.0126829;AN_afr_XY=4100;nhomalt_afr_XY=3;AC_afr=130;AF_afr=0.0142481;AN_afr=9124;nhomalt_afr=5;AC_ami_XX=1;AF_ami_XX=0.00413223;AN_ami_XX=242;nhomalt_ami_XX=0;AC_ami_XY=2;AF_ami_XY=0.00869565;AN_ami_XY=230;nhomalt_ami_XY=0;AC_ami=3;AF_ami=0.00635593;AN_ami=472;nhomalt_ami=0;AC_amr_XX=11;AF_amr_XX=0.00485437;AN_amr_XX=2266;nhomalt_amr_XX=1;AC_amr_XY=19;AF_amr_XY=0.00675195;AN_amr_XY=2814;nhomalt_amr_XY=1;AC_amr=30;AF_amr=0.00590551;AN_amr=5080;nhomalt_amr=2;AC_asj_XX=6;AF_asj_XX=0.00748130;AN_asj_XX=802;nhomalt_asj_XX=0;AC_asj_XY=1;AF_asj_XY=0.00136986;AN_asj_XY=730;nhomalt_asj_XY=0;AC_asj=7;AF_asj=0.00456919;AN_asj=1532;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=562;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=582;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1144;nhomalt_eas=0;AC_fin_XX=1;AF_fin_XX=0.00193050;AN_fin_XX=518;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2232;nhomalt_fin_XY=0;AC_fin=1;AF_fin=0.000363636;AN_fin=2750;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=48;nhomalt_mid_XX=0;AC_mid_XY=1;AF_mid_XY=0.0277778;AN_mid_XY=36;nhomalt_mid_XY=0;AC_mid=1;AF_mid=0.0119048;AN_mid=84;nhomalt_mid=0;AC_nfe_XX=175;AF_nfe_XX=0.00972222;AN_nfe_XX=18000;nhomalt_nfe_XX=6;AC_nfe_XY=122;AF_nfe_XY=0.00982287;AN_nfe_XY=12420;nhomalt_nfe_XY=2;AC_nfe=297;AF_nfe=0.00976331;AN_nfe=30420;nhomalt_nfe=8;AC_raw=2641;AF_raw=0.0231874;AN_raw=113898;nhomalt_raw=441;AC_remaining_XX=1;AF_remaining_XX=0.00331126;AN_remaining_XX=302;nhomalt_remaining_XX=0;AC_remaining_XY=1;AF_remaining_XY=0.00328947;AN_remaining_XY=304;nhomalt_remaining_XY=0;AC_remaining=2;AF_remaining=0.00330033;AN_remaining=606;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=440;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1088;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1528;nhomalt_sas=0;AC_grpmax=130;AF_grpmax=0.0142481;AN_grpmax=9124;nhomalt_grpmax=5;faf95=0.00826459;faf95_afr=0.0122562;faf95_amr=0.00424983;faf95_eas=0.00000;faf95_nfe=0.00884998;faf95_sas=0.00000;faf99=0.00800074;faf99_afr=0.0115021;faf99_amr=0.00368901;faf99_eas=0.00000;faf99_nfe=0.00849313;faf99_sas=0.00000;fafmax_faf99_max=0.0115021;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=6|3|7|19|20|20|23|22|16|14;age_hist_het_n_smaller=18;age_hist_het_n_larger=2;age_hist_hom_bin_freq=1|0|0|0|0|2|0|0|0|2;age_hist_hom_n_smaller=2;age_hist_hom_n_larger=0;FS=1.80413;MQ=29.9567;MQRankSum=-0.0770000;QUALapprox=2404026;QD=8.06047;ReadPosRankSum=0.358000;SOR=0.826000;VarDP=298249;AS_FS=2.71878;AS_MQ=30.7896;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=323739;AS_QD=8.91843;AS_ReadPosRankSum=0.00000;AS_SB_TABLE=53223,82230|7297,15116;AS_SOR=1.02872;AS_VarDP=36300;inbreeding_coeff=0.318154;AS_culprit=AS_MQRankSum;AS_VQSLOD=1.65300;negative_train_site;allele_type=ins;n_alt_alleles=28;variant_type=mixed;was_mixed;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|38|42|43|35|24|33|36|25|32|27|16|20|19|19|9|38;gq_hist_all_bin_freq=0|0|0|0|12786|5130|3287|1465|752|754|548|280|284|368|164|114|153|79|46|165;dp_hist_alt_bin_freq=0|0|375|67|12|2|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10825|7933|4559|2232|725|89|8|3|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|5|24|49|19|47|29|75|34|64|45|22|22|6|0|0|0;cadd_raw_score=0.0132360;cadd_phred=1.42000;pangolin_largest_ds=0.00000;phylop=2.24600;VRS_Allele_IDs=ga4gh:VA.Vrd862Izki0wxEEPzFoE7pLu-QJ7YPJD,ga4gh:VA.b_dcfA2yhSFSugWjwHRWpVpIKwrOUuHx;VRS_Starts=5031124,5031125;VRS_Ends=5031125,5031147;VRS_States=C,TTTTTTTTTTTTTTTTTTTTTTT;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-906dup|||||||1||1||insertion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-906dup|||||||1||1||insertion||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-906dup|||||||1||1||insertion||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-906dup|||||||1||1||insertion||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-906dup|||||||1||1||insertion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-906dup|||||||1||1||insertion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-906dup|||||||1||1||insertion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-906dup|||||||1||1||insertion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-906dup|||||||1||1||insertion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031125	rs1218191980	C	CTT	.	PASS	AC=21;AN=52736;AF=0.000398210;grpmax=afr;fafmax_faf95_max=0.000758800;fafmax_faf95_max_gen_anc=afr;AC_XX=11;AF_XX=0.000390071;AN_XX=28200;nhomalt_XX=0;AC_XY=10;AF_XY=0.000407564;AN_XY=24536;nhomalt_XY=0;nhomalt=0;AC_afr_XX=6;AF_afr_XX=0.00119474;AN_afr_XX=5022;nhomalt_afr_XX=0;AC_afr_XY=6;AF_afr_XY=0.00146341;AN_afr_XY=4100;nhomalt_afr_XY=0;AC_afr=12;AF_afr=0.00131550;AN_afr=9122;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=242;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=230;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=472;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2266;nhomalt_amr_XX=0;AC_amr_XY=1;AF_amr_XY=0.000355366;AN_amr_XY=2814;nhomalt_amr_XY=0;AC_amr=1;AF_amr=0.000196850;AN_amr=5080;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=802;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=730;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1532;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=562;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=582;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1144;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=518;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2232;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2750;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=48;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=36;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=84;nhomalt_mid=0;AC_nfe_XX=5;AF_nfe_XX=0.000277809;AN_nfe_XX=17998;nhomalt_nfe_XX=0;AC_nfe_XY=3;AF_nfe_XY=0.000241546;AN_nfe_XY=12420;nhomalt_nfe_XY=0;AC_nfe=8;AF_nfe=0.000263002;AN_nfe=30418;nhomalt_nfe=0;AC_raw=230;AF_raw=0.00201935;AN_raw=113898;nhomalt_raw=23;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=302;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=304;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=606;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=440;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1088;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1528;nhomalt_sas=0;AC_grpmax=12;AF_grpmax=0.00131550;AN_grpmax=9122;nhomalt_grpmax=0;faf95=0.000265980;faf95_afr=0.000758800;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.000130510;faf95_sas=0.00000;faf99=0.000223940;faf99_afr=0.000594510;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=9.51400e-05;faf99_sas=0.00000;fafmax_faf99_max=0.000594510;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=0|1|0|0|3|2|1|0|0|0;age_hist_het_n_smaller=2;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.80413;MQ=29.9567;MQRankSum=-0.0770000;QUALapprox=2404026;QD=8.06047;ReadPosRankSum=0.358000;SOR=0.826000;VarDP=298249;AS_FS=0.00000;AS_MQ=30.3131;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=41813;AS_QD=10.0779;AS_ReadPosRankSum=-0.198000;AS_SB_TABLE=53223,82230|898,1346;AS_SOR=0.662947;AS_VarDP=4149;inbreeding_coeff=0.198381;AS_culprit=AS_FS;AS_VQSLOD=17.9707;negative_train_site;allele_type=ins;n_alt_alleles=28;variant_type=mixed;was_mixed;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|3|1|1|0|1|0|0|0|3|0|0|0|4|0|8;gq_hist_all_bin_freq=0|0|0|0|12787|5129|3286|1464|753|754|549|280|284|373|169|113|151|75|44|162;dp_hist_alt_bin_freq=0|0|18|3|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10824|7932|4559|2232|725|89|8|3|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|4|2|1|1|5|1|5|0|2|0|0|0|0|0|0|0;cadd_raw_score=0.00896900;cadd_phred=1.39300;pangolin_largest_ds=0.00000;phylop=2.24600;VRS_Allele_IDs=ga4gh:VA.Vrd862Izki0wxEEPzFoE7pLu-QJ7YPJD,ga4gh:VA.tjPOm3D0lcLOi_3qk_h6W4FJ1tkKQMs5;VRS_Starts=5031124,5031125;VRS_Ends=5031125,5031147;VRS_States=C,TTTTTTTTTTTTTTTTTTTTTTTT;vep=TT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-907_698-906dup|||||||1||1||insertion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,TT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-907_347-906dup|||||||1||1||insertion||||||5|||ENSP00000484302||Ensembl|||||||||||||,TT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-907_347-906dup|||||||1||1||insertion||||||2|||ENSP00000485649||Ensembl|||||||||||||,TT|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-907_*312-906dup|||||||1||1||insertion||||||2|||ENSP00000485557||Ensembl|||||||||||||,TT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-907_698-906dup|||||||1||1||insertion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,TT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-907_698-906dup|||||||1||1||insertion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,TT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-907_698-906dup|||||||1||1||insertion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,TT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-907_698-906dup|||||||1||1||insertion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,TT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-907_698-906dup|||||||1||1||insertion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031125	rs1218191980	C	CTTT	.	PASS	AC=2;AN=52746;AF=3.79176e-05;grpmax=nfe;fafmax_faf95_max=1.08800e-05;fafmax_faf95_max_gen_anc=nfe;AC_XX=0;AF_XX=0.00000;AN_XX=28198;nhomalt_XX=0;AC_XY=2;AF_XY=8.14730e-05;AN_XY=24548;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5020;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4094;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9114;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=242;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=230;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=472;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2260;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2816;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=5076;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=802;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=730;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1532;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=564;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=584;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1148;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=518;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2232;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2750;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=50;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=38;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=88;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=18000;nhomalt_nfe_XX=0;AC_nfe_XY=2;AF_nfe_XY=0.000161005;AN_nfe_XY=12422;nhomalt_nfe_XY=0;AC_nfe=2;AF_nfe=6.57419e-05;AN_nfe=30422;nhomalt_nfe=0;AC_raw=32;AF_raw=0.000280948;AN_raw=113900;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=294;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=304;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=598;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=448;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1098;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1546;nhomalt_sas=0;AC_grpmax=2;AF_grpmax=6.57419e-05;AN_grpmax=30422;nhomalt_grpmax=0;faf95=6.29000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=1.08800e-05;faf95_sas=0.00000;faf99=2.35000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=4.07000e-06;faf99_sas=0.00000;fafmax_faf99_max=4.07000e-06;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|1|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.80413;MQ=29.9567;MQRankSum=-0.0770000;QUALapprox=2404026;QD=8.06047;ReadPosRankSum=0.358000;SOR=0.826000;VarDP=298249;AS_FS=.;AS_MQ=30.4074;AS_MQRankSum=-0.0850000;AS_pab_max=1.00000;AS_QUALapprox=6179;AS_QD=11.7920;AS_ReadPosRankSum=-0.533000;AS_SB_TABLE=53223,82230|133,135;AS_SOR=0.358745;AS_VarDP=524;inbreeding_coeff=0.0622365;AS_culprit=AS_FS;AS_VQSLOD=15.4769;negative_train_site;allele_type=ins;n_alt_alleles=28;variant_type=mixed;was_mixed;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|1|1|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|12787|5129|3286|1465|753|755|549|280|284|372|169|114|151|75|44|160;dp_hist_alt_bin_freq=0|0|2|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10824|7932|4559|2232|725|89|8|3|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|1|0|1|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.00470200;cadd_phred=1.36500;pangolin_largest_ds=0.00000;phylop=2.24600;VRS_Allele_IDs=ga4gh:VA.Vrd862Izki0wxEEPzFoE7pLu-QJ7YPJD,ga4gh:VA.GIN09oUiA7S0virbo0CyYlzx7wLrkz65;VRS_Starts=5031124,5031125;VRS_Ends=5031125,5031147;VRS_States=C,TTTTTTTTTTTTTTTTTTTTTTTTT;vep=TTT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-908_698-906dup|||||||1||1||insertion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,TTT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-908_347-906dup|||||||1||1||insertion||||||5|||ENSP00000484302||Ensembl|||||||||||||,TTT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-908_347-906dup|||||||1||1||insertion||||||2|||ENSP00000485649||Ensembl|||||||||||||,TTT|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-908_*312-906dup|||||||1||1||insertion||||||2|||ENSP00000485557||Ensembl|||||||||||||,TTT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-908_698-906dup|||||||1||1||insertion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,TTT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-908_698-906dup|||||||1||1||insertion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,TTT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-908_698-906dup|||||||1||1||insertion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,TTT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-908_698-906dup|||||||1||1||insertion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,TTT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-908_698-906dup|||||||1||1||insertion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031125	rs1218191980	C	CTTTT	.	PASS	AC=4;AN=52746;AF=7.58351e-05;grpmax=afr;fafmax_faf95_max=2.61200e-05;fafmax_faf95_max_gen_anc=nfe;AC_XX=2;AF_XX=7.09270e-05;AN_XX=28198;nhomalt_XX=0;AC_XY=2;AF_XY=8.14730e-05;AN_XY=24548;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5020;nhomalt_afr_XX=0;AC_afr_XY=1;AF_afr_XY=0.000244260;AN_afr_XY=4094;nhomalt_afr_XY=0;AC_afr=1;AF_afr=0.000109721;AN_afr=9114;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=242;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=230;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=472;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2260;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2816;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=5076;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=802;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=730;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1532;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=564;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=584;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1148;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=518;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2232;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2750;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=50;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=38;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=88;nhomalt_mid=0;AC_nfe_XX=2;AF_nfe_XX=0.000111111;AN_nfe_XX=18000;nhomalt_nfe_XX=0;AC_nfe_XY=1;AF_nfe_XY=8.05023e-05;AN_nfe_XY=12422;nhomalt_nfe_XY=0;AC_nfe=3;AF_nfe=9.86128e-05;AN_nfe=30422;nhomalt_nfe=0;AC_raw=6;AF_raw=5.26778e-05;AN_raw=113900;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=294;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=304;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=598;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=448;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1098;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1546;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000109721;AN_grpmax=9114;nhomalt_grpmax=0;faf95=2.56800e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=2.61200e-05;faf95_sas=0.00000;faf99=1.49100e-05;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=1.42400e-05;faf99_sas=0.00000;fafmax_faf99_max=1.42400e-05;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|1|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.80413;MQ=29.9567;MQRankSum=-0.0770000;QUALapprox=2404026;QD=8.06047;ReadPosRankSum=0.358000;SOR=0.826000;VarDP=298249;AS_FS=.;AS_MQ=30.2079;AS_MQRankSum=0.731000;AS_pab_max=1.00000;AS_QUALapprox=823;AS_QD=9.45977;AS_ReadPosRankSum=0.00000;AS_SB_TABLE=53223,82230|22,11;AS_SOR=1.40917;AS_VarDP=87;inbreeding_coeff=-5.26806e-05;AS_culprit=AS_FS;AS_VQSLOD=14.0719;negative_train_site;allele_type=ins;n_alt_alleles=28;variant_type=mixed;was_mixed;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|1|0|0|0|1|0|0|0|1|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|12787|5129|3286|1465|753|755|549|280|284|372|169|114|151|75|44|160;dp_hist_alt_bin_freq=0|0|2|2|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10824|7932|4559|2232|725|89|8|3|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|4|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.000435000;cadd_phred=1.33800;pangolin_largest_ds=0.00000;phylop=2.24600;VRS_Allele_IDs=ga4gh:VA.Vrd862Izki0wxEEPzFoE7pLu-QJ7YPJD,ga4gh:VA.sKajOwPr1BbP93SY6m_7MTSuEirJ5BzP;VRS_Starts=5031124,5031125;VRS_Ends=5031125,5031147;VRS_States=C,TTTTTTTTTTTTTTTTTTTTTTTTTT;vep=TTTT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-909_698-906dup|||||||1||1||insertion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,TTTT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-909_347-906dup|||||||1||1||insertion||||||5|||ENSP00000484302||Ensembl|||||||||||||,TTTT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-909_347-906dup|||||||1||1||insertion||||||2|||ENSP00000485649||Ensembl|||||||||||||,TTTT|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-909_*312-906dup|||||||1||1||insertion||||||2|||ENSP00000485557||Ensembl|||||||||||||,TTTT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-909_698-906dup|||||||1||1||insertion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,TTTT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-909_698-906dup|||||||1||1||insertion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,TTTT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-909_698-906dup|||||||1||1||insertion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,TTTT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-909_698-906dup|||||||1||1||insertion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,TTTT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-909_698-906dup|||||||1||1||insertion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031125	.	C	CTTTTT	.	AC0;AS_VQSR	AC=0;AN=52746;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=28198;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=24548;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5020;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4094;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9114;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=242;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=230;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=472;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2260;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2816;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=5076;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=802;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=730;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1532;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=564;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=584;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1148;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=518;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2232;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2750;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=50;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=38;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=88;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=18000;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=12422;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=30422;nhomalt_nfe=0;AC_raw=2;AF_raw=1.75593e-05;AN_raw=113900;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=294;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=304;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=598;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=448;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1098;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1546;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.80413;MQ=29.9567;MQRankSum=-0.0770000;QUALapprox=2404026;QD=8.06047;ReadPosRankSum=0.358000;SOR=0.826000;VarDP=298249;AS_FS=.;AS_MQ=26.5866;AS_MQRankSum=0.736000;AS_pab_max=1.00000;AS_QUALapprox=94;AS_QD=23.5000;AS_ReadPosRankSum=0.736000;AS_SB_TABLE=53223,82230|3,0;AS_SOR=2.79844;AS_VarDP=4;inbreeding_coeff=1.00000;AS_culprit=AS_SOR;AS_VQSLOD=-2.01600;negative_train_site;allele_type=ins;n_alt_alleles=28;variant_type=mixed;was_mixed;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|12787|5129|3286|1465|753|755|549|280|284|372|169|114|151|75|44|160;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10824|7932|4559|2232|725|89|8|3|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.00383200;cadd_phred=1.31200;phylop=2.24600;VRS_Allele_IDs=ga4gh:VA.Vrd862Izki0wxEEPzFoE7pLu-QJ7YPJD,ga4gh:VA.DwogAjz9eEs04Da447CsMAxJL20gPvR-;VRS_Starts=5031124,5031125;VRS_Ends=5031125,5031147;VRS_States=C,TTTTTTTTTTTTTTTTTTTTTTTTTTT;vep=TTTTT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-910_698-906dup|||||||1||1||insertion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,TTTTT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-910_347-906dup|||||||1||1||insertion||||||5|||ENSP00000484302||Ensembl|||||||||||||,TTTTT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-910_347-906dup|||||||1||1||insertion||||||2|||ENSP00000485649||Ensembl|||||||||||||,TTTTT|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-910_*312-906dup|||||||1||1||insertion||||||2|||ENSP00000485557||Ensembl|||||||||||||,TTTTT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-910_698-906dup|||||||1||1||insertion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,TTTTT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-910_698-906dup|||||||1||1||insertion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,TTTTT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-910_698-906dup|||||||1||1||insertion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,TTTTT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-910_698-906dup|||||||1||1||insertion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,TTTTT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-910_698-906dup|||||||1||1||insertion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031125	.	C	CTTTTTT	.	AC0	AC=0;AN=52746;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=28198;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=24548;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5020;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4094;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9114;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=242;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=230;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=472;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2260;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2816;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=5076;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=802;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=730;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1532;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=564;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=584;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1148;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=518;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2232;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2750;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=50;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=38;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=88;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=18000;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=12422;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=30422;nhomalt_nfe=0;AC_raw=1;AF_raw=8.77963e-06;AN_raw=113900;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=294;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=304;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=598;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=448;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1098;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1546;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.80413;MQ=29.9567;MQRankSum=-0.0770000;QUALapprox=2404026;QD=8.06047;ReadPosRankSum=0.358000;SOR=0.826000;VarDP=298249;AS_FS=.;AS_MQ=31.5343;AS_MQRankSum=-0.480000;AS_pab_max=1.00000;AS_QUALapprox=176;AS_QD=7.04000;AS_ReadPosRankSum=-0.550000;AS_SB_TABLE=53223,82230|3,5;AS_SOR=0.664026;AS_VarDP=25;inbreeding_coeff=-8.77971e-06;AS_culprit=AS_FS;AS_VQSLOD=15.2243;negative_train_site;allele_type=ins;n_alt_alleles=28;variant_type=mixed;was_mixed;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|12787|5129|3286|1465|753|755|549|280|284|372|169|114|151|75|44|160;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10824|7932|4559|2232|725|89|8|3|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.00809800;cadd_phred=1.28500;phylop=2.24600;VRS_Allele_IDs=ga4gh:VA.Vrd862Izki0wxEEPzFoE7pLu-QJ7YPJD,ga4gh:VA.0JVnK0qaiYfaCRMxUtyz7X_Lq7tE78VY;VRS_Starts=5031124,5031125;VRS_Ends=5031125,5031147;VRS_States=C,TTTTTTTTTTTTTTTTTTTTTTTTTTTT;vep=TTTTTT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-911_698-906dup|||||||1||1||insertion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,TTTTTT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-911_347-906dup|||||||1||1||insertion||||||5|||ENSP00000484302||Ensembl|||||||||||||,TTTTTT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-911_347-906dup|||||||1||1||insertion||||||2|||ENSP00000485649||Ensembl|||||||||||||,TTTTTT|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-911_*312-906dup|||||||1||1||insertion||||||2|||ENSP00000485557||Ensembl|||||||||||||,TTTTTT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-911_698-906dup|||||||1||1||insertion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,TTTTTT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-911_698-906dup|||||||1||1||insertion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,TTTTTT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-911_698-906dup|||||||1||1||insertion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,TTTTTT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-911_698-906dup|||||||1||1||insertion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,TTTTTT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-911_698-906dup|||||||1||1||insertion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031125	.	C	CTTTTTTT	.	AC0	AC=0;AN=52746;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=28198;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=24548;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5020;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4094;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9114;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=242;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=230;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=472;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2260;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2816;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=5076;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=802;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=730;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1532;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=564;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=584;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1148;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=518;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2232;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2750;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=50;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=38;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=88;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=18000;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=12422;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=30422;nhomalt_nfe=0;AC_raw=1;AF_raw=8.77963e-06;AN_raw=113900;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=294;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=304;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=598;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=448;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1098;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1546;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.80413;MQ=29.9567;MQRankSum=-0.0770000;QUALapprox=2404026;QD=8.06047;ReadPosRankSum=0.358000;SOR=0.826000;VarDP=298249;AS_FS=.;AS_MQ=29.5585;AS_MQRankSum=-0.550000;AS_pab_max=0.687500;AS_QUALapprox=199;AS_QD=6.63333;AS_ReadPosRankSum=-0.731000;AS_SB_TABLE=53223,82230|3,5;AS_SOR=0.664026;AS_VarDP=30;inbreeding_coeff=-8.77971e-06;AS_culprit=AS_FS;AS_VQSLOD=14.7891;negative_train_site;allele_type=ins;n_alt_alleles=28;variant_type=mixed;was_mixed;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|12787|5129|3286|1465|753|755|549|280|284|372|169|114|151|75|44|160;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10824|7932|4559|2232|725|89|8|3|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0123650;cadd_phred=1.26000;phylop=2.24600;VRS_Allele_IDs=ga4gh:VA.Vrd862Izki0wxEEPzFoE7pLu-QJ7YPJD,ga4gh:VA.og3i5VUdX95bAmJpwbcolcykdzRx7u6g;VRS_Starts=5031124,5031125;VRS_Ends=5031125,5031147;VRS_States=C,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT;vep=TTTTTTT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-912_698-906dup|||||||1||1||insertion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,TTTTTTT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-912_347-906dup|||||||1||1||insertion||||||5|||ENSP00000484302||Ensembl|||||||||||||,TTTTTTT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-912_347-906dup|||||||1||1||insertion||||||2|||ENSP00000485649||Ensembl|||||||||||||,TTTTTTT|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-912_*312-906dup|||||||1||1||insertion||||||2|||ENSP00000485557||Ensembl|||||||||||||,TTTTTTT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-912_698-906dup|||||||1||1||insertion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,TTTTTTT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-912_698-906dup|||||||1||1||insertion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,TTTTTTT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-912_698-906dup|||||||1||1||insertion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,TTTTTTT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-912_698-906dup|||||||1||1||insertion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,TTTTTTT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-912_698-906dup|||||||1||1||insertion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031125	rs1485342661	C	T	.	AS_VQSR	AC=1;AN=52744;AF=1.89595e-05;AC_XX=1;AF_XX=3.54660e-05;AN_XX=28196;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=24548;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5020;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4094;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9114;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=242;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=230;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=472;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2258;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2816;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=5074;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=802;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=730;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1532;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=564;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=584;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1148;nhomalt_eas=0;AC_fin_XX=1;AF_fin_XX=0.00193050;AN_fin_XX=518;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2232;nhomalt_fin_XY=0;AC_fin=1;AF_fin=0.000363636;AN_fin=2750;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=50;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=38;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=88;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=18000;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=12422;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=30422;nhomalt_nfe=0;AC_raw=20;AF_raw=0.000175593;AN_raw=113900;nhomalt_raw=2;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=294;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=304;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=598;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=448;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1098;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1546;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.80413;MQ=29.9567;MQRankSum=-0.0770000;QUALapprox=2404026;QD=8.06047;ReadPosRankSum=0.358000;SOR=0.826000;VarDP=298249;AS_FS=.;AS_MQ=31.3256;AS_MQRankSum=0.406000;AS_pab_max=1.00000;AS_QUALapprox=1955;AS_QD=4.86318;AS_ReadPosRankSum=-0.358000;AS_SB_TABLE=53223,82230|8,128;AS_SOR=4.46668;AS_VarDP=402;inbreeding_coeff=0.199860;AS_culprit=AS_SOR;AS_VQSLOD=-17.1999;negative_train_site;allele_type=snv;n_alt_alleles=28;variant_type=mixed;was_mixed;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|12786|5129|3286|1465|753|755|549|280|284|372|169|114|151|75|44|160;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10824|7931|4559|2232|725|89|8|3|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.203890;cadd_phred=3.16800;phylop=2.24600;VRS_Allele_IDs=ga4gh:VA.Vrd862Izki0wxEEPzFoE7pLu-QJ7YPJD,ga4gh:VA.mG7IOj1QKKc6YwqJKWihm6oRr2k-sX1o;VRS_Starts=5031124,5031124;VRS_Ends=5031125,5031125;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-928C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-928C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-928C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-928C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-928C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-928C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-928C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-928C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-928C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031125	rs1218191980	CT	C	.	PASS	AC=3697;AN=52708;AF=0.0701412;grpmax=afr;fafmax_faf95_max=0.0909241;fafmax_faf95_max_gen_anc=afr;AC_XX=2008;AF_XX=0.0712410;AN_XX=28186;nhomalt_XX=73;AC_XY=1689;AF_XY=0.0688769;AN_XY=24522;nhomalt_XY=72;nhomalt=145;AC_afr_XX=456;AF_afr_XX=0.0908729;AN_afr_XX=5018;nhomalt_afr_XX=30;AC_afr_XY=421;AF_afr_XY=0.102733;AN_afr_XY=4098;nhomalt_afr_XY=24;AC_afr=877;AF_afr=0.0962045;AN_afr=9116;nhomalt_afr=54;AC_ami_XX=13;AF_ami_XX=0.0537190;AN_ami_XX=242;nhomalt_ami_XX=2;AC_ami_XY=8;AF_ami_XY=0.0347826;AN_ami_XY=230;nhomalt_ami_XY=0;AC_ami=21;AF_ami=0.0444915;AN_ami=472;nhomalt_ami=2;AC_amr_XX=100;AF_amr_XX=0.0441306;AN_amr_XX=2266;nhomalt_amr_XX=1;AC_amr_XY=127;AF_amr_XY=0.0451315;AN_amr_XY=2814;nhomalt_amr_XY=4;AC_amr=227;AF_amr=0.0446850;AN_amr=5080;nhomalt_amr=5;AC_asj_XX=75;AF_asj_XX=0.0935162;AN_asj_XX=802;nhomalt_asj_XX=6;AC_asj_XY=69;AF_asj_XY=0.0945205;AN_asj_XY=730;nhomalt_asj_XY=3;AC_asj=144;AF_asj=0.0939948;AN_asj=1532;nhomalt_asj=9;AC_eas_XX=57;AF_eas_XX=0.101423;AN_eas_XX=562;nhomalt_eas_XX=5;AC_eas_XY=49;AF_eas_XY=0.0841924;AN_eas_XY=582;nhomalt_eas_XY=7;AC_eas=106;AF_eas=0.0926573;AN_eas=1144;nhomalt_eas=12;AC_fin_XX=16;AF_fin_XX=0.0308880;AN_fin_XX=518;nhomalt_fin_XX=1;AC_fin_XY=36;AF_fin_XY=0.0161290;AN_fin_XY=2232;nhomalt_fin_XY=2;AC_fin=52;AF_fin=0.0189091;AN_fin=2750;nhomalt_fin=3;AC_mid_XX=2;AF_mid_XX=0.0416667;AN_mid_XX=48;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=36;nhomalt_mid_XY=0;AC_mid=2;AF_mid=0.0238095;AN_mid=84;nhomalt_mid=0;AC_nfe_XX=1252;AF_nfe_XX=0.0696020;AN_nfe_XX=17988;nhomalt_nfe_XX=27;AC_nfe_XY=922;AF_nfe_XY=0.0743069;AN_nfe_XY=12408;nhomalt_nfe_XY=26;AC_nfe=2174;AF_nfe=0.0715226;AN_nfe=30396;nhomalt_nfe=53;AC_raw=22518;AF_raw=0.197703;AN_raw=113898;nhomalt_raw=4518;AC_remaining_XX=22;AF_remaining_XX=0.0728477;AN_remaining_XX=302;nhomalt_remaining_XX=1;AC_remaining_XY=28;AF_remaining_XY=0.0921053;AN_remaining_XY=304;nhomalt_remaining_XY=4;AC_remaining=50;AF_remaining=0.0825083;AN_remaining=606;nhomalt_remaining=5;AC_sas_XX=15;AF_sas_XX=0.0340909;AN_sas_XX=440;nhomalt_sas_XX=0;AC_sas_XY=29;AF_sas_XY=0.0266544;AN_sas_XY=1088;nhomalt_sas_XY=2;AC_sas=44;AF_sas=0.0287958;AN_sas=1528;nhomalt_sas=2;AC_grpmax=877;AF_grpmax=0.0962045;AN_grpmax=9116;nhomalt_grpmax=54;faf95=0.0682542;faf95_afr=0.0909241;faf95_amr=0.0399202;faf95_eas=0.0783668;faf95_nfe=0.0690181;faf95_sas=0.0220456;faf99=0.0674852;faf99_afr=0.0888083;faf99_amr=0.0380761;faf99_eas=0.0730139;faf99_nfe=0.0680015;faf99_sas=0.0196664;fafmax_faf99_max=0.0888083;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=43|66|62|147|174|209|191|181|128|83;age_hist_het_n_smaller=120;age_hist_het_n_larger=21;age_hist_hom_bin_freq=4|3|4|7|11|10|12|7|3|4;age_hist_hom_n_smaller=2;age_hist_hom_n_larger=3;FS=1.80413;MQ=29.9567;MQRankSum=-0.0770000;QUALapprox=2404026;QD=8.06047;ReadPosRankSum=0.358000;SOR=0.826000;VarDP=298249;AS_FS=1.13434;AS_MQ=29.7839;AS_MQRankSum=-0.143000;AS_pab_max=1.00000;AS_QUALapprox=2068251;AS_QD=8.03907;AS_ReadPosRankSum=0.358000;AS_SB_TABLE=53223,82230|52210,89262;AS_SOR=0.799537;AS_VarDP=257275;inbreeding_coeff=0.253741;AS_culprit=AS_FS;AS_VQSLOD=1.86870;negative_train_site;allele_type=del;n_alt_alleles=28;variant_type=mixed;was_mixed;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|208|400|415|220|232|409|360|197|203|317|144|98|135|56|36|124;gq_hist_all_bin_freq=0|0|0|0|12780|5127|3283|1463|753|752|545|280|285|371|168|114|154|74|45|165;dp_hist_alt_bin_freq=0|0|2917|542|76|15|4|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10815|7930|4557|2231|725|89|8|3|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|122|500|672|433|579|249|421|75|214|92|28|17|6|0|0|0;cadd_raw_score=-0.0574050;cadd_phred=1.01600;pangolin_largest_ds=0.00000;phylop=2.24600;VRS_Allele_IDs=ga4gh:VA.SKMdoaobLA5m4TN0b4iCUxn42XVLarYr,ga4gh:VA.K2lbfTZ4dwEcnZd59_QVAdYmn3P7yrgT;VRS_Starts=5031124,5031125;VRS_Ends=5031126,5031147;VRS_States=CT,TTTTTTTTTTTTTTTTTTTTT;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-906del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-906del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-906del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-906del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-906del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-906del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-906del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-906del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-906del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031125	rs1218191980	CTT	C	.	PASS	AC=23;AN=52728;AF=0.000436201;grpmax=afr;fafmax_faf95_max=0.000676000;fafmax_faf95_max_gen_anc=afr;AC_XX=14;AF_XX=0.000496595;AN_XX=28192;nhomalt_XX=0;AC_XY=9;AF_XY=0.000366808;AN_XY=24536;nhomalt_XY=0;nhomalt=0;AC_afr_XX=7;AF_afr_XX=0.00139387;AN_afr_XX=5022;nhomalt_afr_XX=0;AC_afr_XY=4;AF_afr_XY=0.000975610;AN_afr_XY=4100;nhomalt_afr_XY=0;AC_afr=11;AF_afr=0.00120588;AN_afr=9122;nhomalt_afr=0;AC_ami_XX=1;AF_ami_XX=0.00413223;AN_ami_XX=242;nhomalt_ami_XX=0;AC_ami_XY=1;AF_ami_XY=0.00434783;AN_ami_XY=230;nhomalt_ami_XY=0;AC_ami=2;AF_ami=0.00423729;AN_ami=472;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2264;nhomalt_amr_XX=0;AC_amr_XY=3;AF_amr_XY=0.00106610;AN_amr_XY=2814;nhomalt_amr_XY=0;AC_amr=3;AF_amr=0.000590784;AN_amr=5078;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=802;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=730;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1532;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=562;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=582;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1144;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=518;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2232;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2750;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=48;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=36;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=84;nhomalt_mid=0;AC_nfe_XX=5;AF_nfe_XX=0.000277901;AN_nfe_XX=17992;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=12420;nhomalt_nfe_XY=0;AC_nfe=5;AF_nfe=0.000164409;AN_nfe=30412;nhomalt_nfe=0;AC_raw=170;AF_raw=0.00149256;AN_raw=113898;nhomalt_raw=23;AC_remaining_XX=1;AF_remaining_XX=0.00331126;AN_remaining_XX=302;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=304;nhomalt_remaining_XY=0;AC_remaining=1;AF_remaining=0.00165017;AN_remaining=606;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=440;nhomalt_sas_XX=0;AC_sas_XY=1;AF_sas_XY=0.000919118;AN_sas_XY=1088;nhomalt_sas_XY=0;AC_sas=1;AF_sas=0.000654450;AN_sas=1528;nhomalt_sas=0;AC_grpmax=11;AF_grpmax=0.00120588;AN_grpmax=9122;nhomalt_grpmax=0;faf95=0.000297300;faf95_afr=0.000676000;faf95_amr=0.000160880;faf95_eas=0.00000;faf95_nfe=6.42600e-05;faf95_sas=0.00000;faf99=0.000252050;faf99_afr=0.000522650;faf99_amr=8.55400e-05;faf99_eas=0.00000;faf99_nfe=4.17500e-05;faf99_sas=0.00000;fafmax_faf99_max=0.000522650;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=0|0|0|1|0|0|2|1|0|2;age_hist_het_n_smaller=1;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.80413;MQ=29.9567;MQRankSum=-0.0770000;QUALapprox=2404026;QD=8.06047;ReadPosRankSum=0.358000;SOR=0.826000;VarDP=298249;AS_FS=0.00000;AS_MQ=30.7772;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=46001;AS_QD=9.20388;AS_ReadPosRankSum=0.387000;AS_SB_TABLE=53223,82230|772,1908;AS_SOR=1.26836;AS_VarDP=4998;inbreeding_coeff=0.269498;AS_culprit=AS_FS;AS_VQSLOD=14.8195;negative_train_site;allele_type=del;n_alt_alleles=28;variant_type=mixed;was_mixed;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|1|0|1|1|0|2|0|1|1|2|0|2|1|11;gq_hist_all_bin_freq=0|0|0|0|12785|5127|3286|1464|753|755|548|280|284|373|169|114|151|75|45|160;dp_hist_alt_bin_freq=0|0|17|6|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10821|7932|4558|2232|725|89|8|3|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|1|2|2|4|3|5|2|1|0|1|1|0|0|0|0;cadd_raw_score=-0.0611820;cadd_phred=0.998000;pangolin_largest_ds=0.00000;phylop=2.24600;VRS_Allele_IDs=ga4gh:VA.MrxAfU20vp6CzVC_6rhkroGD50gFJf-k,ga4gh:VA.xbDC1oj65H_E4BmoXs1NQnQw7hD9NMgn;VRS_Starts=5031124,5031125;VRS_Ends=5031127,5031147;VRS_States=CTT,TTTTTTTTTTTTTTTTTTTT;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-907_698-906del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-907_347-906del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-907_347-906del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-907_*312-906del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-907_698-906del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-907_698-906del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-907_698-906del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-907_698-906del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-907_698-906del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031125	.	CTTT	C	.	AC0	AC=0;AN=52746;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=28198;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=24548;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5020;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4094;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9114;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=242;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=230;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=472;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2260;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2816;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=5076;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=802;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=730;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1532;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=564;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=584;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1148;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=518;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2232;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2750;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=50;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=38;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=88;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=18000;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=12422;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=30422;nhomalt_nfe=0;AC_raw=9;AF_raw=7.90167e-05;AN_raw=113900;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=294;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=304;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=598;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=448;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1098;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1546;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.80413;MQ=29.9567;MQRankSum=-0.0770000;QUALapprox=2404026;QD=8.06047;ReadPosRankSum=0.358000;SOR=0.826000;VarDP=298249;AS_FS=.;AS_MQ=31.6618;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=7584;AS_QD=7.90000;AS_ReadPosRankSum=0.365000;AS_SB_TABLE=53223,82230|120,331;AS_SOR=1.42405;AS_VarDP=960;inbreeding_coeff=-7.90229e-05;AS_culprit=AS_FS;AS_VQSLOD=13.8528;negative_train_site;allele_type=del;n_alt_alleles=28;variant_type=mixed;was_mixed;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|12787|5129|3286|1465|753|755|549|280|284|372|169|114|151|75|44|160;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10824|7932|4559|2232|725|89|8|3|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0656930;cadd_phred=0.977000;phylop=2.24600;VRS_Allele_IDs=ga4gh:VA.V3JJNJfk4dy1OKnGUNg8aSHOCTlCdq7A,ga4gh:VA.FvbmxCFwhLp5XRyyy4a2pfX205gCfrVu;VRS_Starts=5031124,5031125;VRS_Ends=5031128,5031147;VRS_States=CTTT,TTTTTTTTTTTTTTTTTTT;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-908_698-906del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-908_347-906del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-908_347-906del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-908_*312-906del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-908_698-906del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-908_698-906del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-908_698-906del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-908_698-906del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-908_698-906del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031125	.	CTTTT	C	.	AC0	AC=0;AN=52746;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=28198;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=24548;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5020;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4094;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9114;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=242;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=230;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=472;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2260;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2816;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=5076;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=802;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=730;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1532;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=564;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=584;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1148;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=518;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2232;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2750;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=50;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=38;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=88;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=18000;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=12422;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=30422;nhomalt_nfe=0;AC_raw=2;AF_raw=1.75593e-05;AN_raw=113900;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=294;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=304;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=598;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=448;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1098;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1546;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.80413;MQ=29.9567;MQRankSum=-0.0770000;QUALapprox=2404026;QD=8.06047;ReadPosRankSum=0.358000;SOR=0.826000;VarDP=298249;AS_FS=.;AS_MQ=31.8125;AS_MQRankSum=-0.361000;AS_pab_max=1.00000;AS_QUALapprox=2913;AS_QD=8.15966;AS_ReadPosRankSum=0.361000;AS_SB_TABLE=53223,82230|56,105;AS_SOR=0.895595;AS_VarDP=357;inbreeding_coeff=-1.75596e-05;AS_culprit=AS_FS;AS_VQSLOD=15.9017;negative_train_site;allele_type=del;n_alt_alleles=28;variant_type=mixed;was_mixed;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|12787|5129|3286|1465|753|755|549|280|284|372|169|114|151|75|44|160;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10824|7932|4559|2232|725|89|8|3|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0702530;cadd_phred=0.956000;phylop=2.24600;VRS_Allele_IDs=ga4gh:VA.mFOQ3Kbtr8PhO2tYXvHhVucbU0NYCfdL,ga4gh:VA.MTbSOdQ_d-u9xMfMQ2kxsBeqLg85IReh;VRS_Starts=5031124,5031125;VRS_Ends=5031129,5031147;VRS_States=CTTTT,TTTTTTTTTTTTTTTTTT;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-909_698-906del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-909_347-906del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-909_347-906del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-909_*312-906del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-909_698-906del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-909_698-906del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-909_698-906del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-909_698-906del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-909_698-906del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031125	rs1218191980	CTTTTT	C	.	PASS	AC=1;AN=52746;AF=1.89588e-05;grpmax=nfe;AC_XX=1;AF_XX=3.54635e-05;AN_XX=28198;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=24548;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5020;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4094;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9114;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=242;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=230;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=472;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2260;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2816;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=5076;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=802;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=730;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1532;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=564;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=584;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1148;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=518;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2232;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2750;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=50;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=38;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=88;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=5.55556e-05;AN_nfe_XX=18000;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=12422;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=3.28709e-05;AN_nfe=30422;nhomalt_nfe=0;AC_raw=2;AF_raw=1.75593e-05;AN_raw=113900;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=294;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=304;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=598;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=448;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1098;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1546;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=3.28709e-05;AN_grpmax=30422;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|1|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.80413;MQ=29.9567;MQRankSum=-0.0770000;QUALapprox=2404026;QD=8.06047;ReadPosRankSum=0.358000;SOR=0.826000;VarDP=298249;AS_FS=.;AS_MQ=31.3864;AS_MQRankSum=0.550000;AS_pab_max=1.00000;AS_QUALapprox=4964;AS_QD=19.2403;AS_ReadPosRankSum=0.658000;AS_SB_TABLE=53223,82230|95,65;AS_SOR=0.930050;AS_VarDP=258;inbreeding_coeff=-1.75596e-05;AS_culprit=AS_FS;AS_VQSLOD=16.0649;negative_train_site;allele_type=del;n_alt_alleles=28;variant_type=mixed;was_mixed;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|12787|5129|3286|1465|753|755|549|280|284|372|169|114|151|75|44|160;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10824|7932|4559|2232|725|89|8|3|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0745370;cadd_phred=0.937000;pangolin_largest_ds=0.00000;phylop=2.24600;VRS_Allele_IDs=ga4gh:VA.xT3uIkReRBMQpuVU0pWuiFsfU4p1lp74,ga4gh:VA.2O-yxL6mDUsZ0q1-0paDNfBZm-uuY6Gk;VRS_Starts=5031124,5031125;VRS_Ends=5031130,5031147;VRS_States=CTTTTT,TTTTTTTTTTTTTTTTT;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-910_698-906del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-910_347-906del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-910_347-906del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-910_*312-906del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-910_698-906del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-910_698-906del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-910_698-906del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-910_698-906del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-910_698-906del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031125	rs1218191980	CTTTTTT	C	.	PASS	AC=1;AN=52734;AF=1.89631e-05;grpmax=afr;AC_XX=1;AF_XX=3.54610e-05;AN_XX=28200;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=24534;nhomalt_XY=0;nhomalt=0;AC_afr_XX=1;AF_afr_XX=0.000199124;AN_afr_XX=5022;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4100;nhomalt_afr_XY=0;AC_afr=1;AF_afr=0.000109625;AN_afr=9122;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=242;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=230;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=472;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2266;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2814;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=5080;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=802;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=730;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1532;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=562;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=582;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1144;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=518;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2232;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2750;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=48;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=36;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=84;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=17998;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=12418;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=30416;nhomalt_nfe=0;AC_raw=2;AF_raw=1.75596e-05;AN_raw=113898;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=302;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=304;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=606;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=440;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1088;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1528;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000109625;AN_grpmax=9122;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.80413;MQ=29.9567;MQRankSum=-0.0770000;QUALapprox=2404026;QD=8.06047;ReadPosRankSum=0.358000;SOR=0.826000;VarDP=298249;AS_FS=.;AS_MQ=32.3834;AS_MQRankSum=0.474000;AS_pab_max=1.00000;AS_QUALapprox=4865;AS_QD=28.4503;AS_ReadPosRankSum=0.658000;AS_SB_TABLE=53223,82230|76,62;AS_SOR=0.648547;AS_VarDP=171;inbreeding_coeff=-1.75599e-05;AS_culprit=AS_FS;AS_VQSLOD=15.9783;negative_train_site;allele_type=del;n_alt_alleles=28;variant_type=mixed;was_mixed;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|12787|5129|3286|1465|753|755|548|280|284|372|169|114|151|75|44|160;dp_hist_alt_bin_freq=0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10823|7932|4559|2232|725|89|8|3|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0;cadd_raw_score=-0.0681570;cadd_phred=0.966000;pangolin_largest_ds=0.00000;phylop=2.24600;VRS_Allele_IDs=ga4gh:VA.AK_j9jW0jm6pBIJpf9kL-wZ4lftjixmV,ga4gh:VA.PCq1OFaqhanfCFEqw2LQRr7ysPs8j4IT;VRS_Starts=5031124,5031125;VRS_Ends=5031131,5031147;VRS_States=CTTTTTT,TTTTTTTTTTTTTTTT;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-911_698-906del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-911_347-906del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-911_347-906del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-911_*312-906del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-911_698-906del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-911_698-906del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-911_698-906del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-911_698-906del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-911_698-906del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031125	rs1218191980	CTTTTTTT	C	.	AC0	AC=0;AN=52746;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=28198;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=24548;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5020;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4094;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9114;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=242;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=230;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=472;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2260;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2816;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=5076;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=802;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=730;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1532;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=564;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=584;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1148;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=518;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2232;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2750;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=50;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=38;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=88;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=18000;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=12422;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=30422;nhomalt_nfe=0;AC_raw=1;AF_raw=8.77963e-06;AN_raw=113900;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=294;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=304;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=598;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=448;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1098;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1546;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.80413;MQ=29.9567;MQRankSum=-0.0770000;QUALapprox=2404026;QD=8.06047;ReadPosRankSum=0.358000;SOR=0.826000;VarDP=298249;AS_FS=.;AS_MQ=30.6199;AS_MQRankSum=0.922000;AS_pab_max=1.00000;AS_QUALapprox=4022;AS_QD=34.6724;AS_ReadPosRankSum=0.736000;AS_SB_TABLE=53223,82230|62,44;AS_SOR=0.866652;AS_VarDP=116;inbreeding_coeff=-8.77971e-06;AS_culprit=AS_FS;AS_VQSLOD=15.4977;negative_train_site;allele_type=del;n_alt_alleles=28;variant_type=mixed;was_mixed;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|12787|5129|3286|1465|753|755|549|280|284|372|169|114|151|75|44|160;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10824|7932|4559|2232|725|89|8|3|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0654630;cadd_phred=0.978000;phylop=2.24600;VRS_Allele_IDs=ga4gh:VA.IC4W45bjVC1J8JWS1sdSyh8tfA2Es0et,ga4gh:VA.sOHzE9mPflmJWBh5IW_PcexchyHAxW-0;VRS_Starts=5031124,5031125;VRS_Ends=5031132,5031147;VRS_States=CTTTTTTT,TTTTTTTTTTTTTTT;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-912_698-906del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-912_347-906del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-912_347-906del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-912_*312-906del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-912_698-906del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-912_698-906del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-912_698-906del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-912_698-906del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-912_698-906del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031125	rs1218191980	CTTTTTTTTTTT	C	.	PASS	AC=4;AN=52746;AF=7.58351e-05;grpmax=eas;fafmax_faf95_max=3.81300e-05;fafmax_faf95_max_gen_anc=afr;AC_XX=1;AF_XX=3.54635e-05;AN_XX=28198;nhomalt_XX=0;AC_XY=3;AF_XY=0.000122210;AN_XY=24548;nhomalt_XY=0;nhomalt=0;AC_afr_XX=1;AF_afr_XX=0.000199203;AN_afr_XX=5020;nhomalt_afr_XX=0;AC_afr_XY=1;AF_afr_XY=0.000244260;AN_afr_XY=4094;nhomalt_afr_XY=0;AC_afr=2;AF_afr=0.000219443;AN_afr=9114;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=242;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=230;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=472;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2260;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2816;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=5076;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=802;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=730;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1532;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=564;nhomalt_eas_XX=0;AC_eas_XY=1;AF_eas_XY=0.00171233;AN_eas_XY=584;nhomalt_eas_XY=0;AC_eas=1;AF_eas=0.000871080;AN_eas=1148;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=518;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2232;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2750;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=50;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=38;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=88;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=18000;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=12422;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=30422;nhomalt_nfe=0;AC_raw=9;AF_raw=7.90167e-05;AN_raw=113900;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=294;nhomalt_remaining_XX=0;AC_remaining_XY=1;AF_remaining_XY=0.00328947;AN_remaining_XY=304;nhomalt_remaining_XY=0;AC_remaining=1;AF_remaining=0.00167224;AN_remaining=598;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=448;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1098;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1546;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000871080;AN_grpmax=1148;nhomalt_grpmax=0;faf95=2.56800e-05;faf95_afr=3.81300e-05;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=1.49100e-05;faf99_afr=1.54800e-05;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=1.54800e-05;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=0|0|0|0|1|0|1|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=1;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.80413;MQ=29.9567;MQRankSum=-0.0770000;QUALapprox=2404026;QD=8.06047;ReadPosRankSum=0.358000;SOR=0.826000;VarDP=298249;AS_FS=.;AS_MQ=31.0402;AS_MQRankSum=0.158000;AS_pab_max=1.00000;AS_QUALapprox=7697;AS_QD=32.6144;AS_ReadPosRankSum=0.747000;AS_SB_TABLE=53223,82230|112,80;AS_SOR=0.860833;AS_VarDP=236;inbreeding_coeff=0.222161;AS_culprit=AS_FS;AS_VQSLOD=15.5974;negative_train_site;allele_type=del;n_alt_alleles=28;variant_type=mixed;was_mixed;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|1|2;gq_hist_all_bin_freq=0|0|0|0|12787|5129|3286|1465|753|755|549|280|284|372|169|114|151|75|44|160;dp_hist_alt_bin_freq=0|0|4|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10824|7932|4559|2232|725|89|8|3|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|1|1|1|0;cadd_raw_score=-0.0590320;cadd_phred=1.00900;pangolin_largest_ds=0.00000;phylop=2.24600;VRS_Allele_IDs=ga4gh:VA.8pQnmcrchqRVI97677629fJS5oC0TgEc,ga4gh:VA._RfKoz5dP3De40g2lVMxIsMFu8wFTajH;VRS_Starts=5031124,5031125;VRS_Ends=5031136,5031147;VRS_States=CTTTTTTTTTTT,TTTTTTTTTTT;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-916_698-906del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-916_347-906del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-916_347-906del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-916_*312-906del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-916_698-906del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-916_698-906del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-916_698-906del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-916_698-906del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-916_698-906del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031125	rs1218191980	CTTTTTTTTTTTT	C	.	AS_VQSR	AC=2;AN=52746;AF=3.79176e-05;AC_XX=0;AF_XX=0.00000;AN_XX=28198;nhomalt_XX=0;AC_XY=2;AF_XY=8.14730e-05;AN_XY=24548;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5020;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4094;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9114;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=242;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=230;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=472;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2260;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2816;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=5076;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=802;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=730;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1532;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=564;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=584;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1148;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=518;nhomalt_fin_XX=0;AC_fin_XY=2;AF_fin_XY=0.000896057;AN_fin_XY=2232;nhomalt_fin_XY=0;AC_fin=2;AF_fin=0.000727273;AN_fin=2750;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=50;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=38;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=88;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=18000;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=12422;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=30422;nhomalt_nfe=0;AC_raw=2;AF_raw=1.75593e-05;AN_raw=113900;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=294;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=304;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=598;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=448;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1098;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1546;nhomalt_sas=0;faf95=6.29000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=2.35000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.80413;MQ=29.9567;MQRankSum=-0.0770000;QUALapprox=2404026;QD=8.06047;ReadPosRankSum=0.358000;SOR=0.826000;VarDP=298249;AS_FS=.;AS_MQ=29.1480;AS_MQRankSum=0.354000;AS_pab_max=0.753906;AS_QUALapprox=522;AS_QD=24.8571;AS_ReadPosRankSum=0.937000;AS_SB_TABLE=53223,82230|12,1;AS_SOR=3.75347;AS_VarDP=21;inbreeding_coeff=-1.75596e-05;AS_culprit=AS_SOR;AS_VQSLOD=-5.74330;negative_train_site;allele_type=del;n_alt_alleles=28;variant_type=mixed;was_mixed;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|2;gq_hist_all_bin_freq=0|0|0|0|12787|5129|3286|1465|753|755|549|280|284|372|169|114|151|75|44|160;dp_hist_alt_bin_freq=0|0|2|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10824|7932|4559|2232|725|89|8|3|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|1|0|0|0;cadd_raw_score=-0.0613580;cadd_phred=0.997000;phylop=2.24600;VRS_Allele_IDs=ga4gh:VA.Pad0Kvt_Q4PCqWMVSAJsEOf_Jgy1FE8T,ga4gh:VA.aA3_CoHsW5HaDDyv9U9gqfgXEXh9O3pY;VRS_Starts=5031124,5031125;VRS_Ends=5031137,5031147;VRS_States=CTTTTTTTTTTTT,TTTTTTTTTT;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-917_698-906del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-917_347-906del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-917_347-906del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-917_*312-906del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-917_698-906del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-917_698-906del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-917_698-906del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-917_698-906del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-917_698-906del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031125	rs1218191980	CTTTTTTTTTTTTT	C	.	PASS	AC=1;AN=52746;AF=1.89588e-05;grpmax=afr;AC_XX=0;AF_XX=0.00000;AN_XX=28198;nhomalt_XX=0;AC_XY=1;AF_XY=4.07365e-05;AN_XY=24548;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5020;nhomalt_afr_XX=0;AC_afr_XY=1;AF_afr_XY=0.000244260;AN_afr_XY=4094;nhomalt_afr_XY=0;AC_afr=1;AF_afr=0.000109721;AN_afr=9114;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=242;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=230;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=472;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2260;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2816;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=5076;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=802;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=730;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1532;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=564;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=584;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1148;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=518;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2232;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2750;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=50;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=38;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=88;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=18000;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=12422;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=30422;nhomalt_nfe=0;AC_raw=1;AF_raw=8.77963e-06;AN_raw=113900;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=294;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=304;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=598;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=448;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1098;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1546;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000109721;AN_grpmax=9114;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.80413;MQ=29.9567;MQRankSum=-0.0770000;QUALapprox=2404026;QD=8.06047;ReadPosRankSum=0.358000;SOR=0.826000;VarDP=298249;AS_FS=.;AS_MQ=29.8077;AS_MQRankSum=-0.496000;AS_pab_max=1.00000;AS_QUALapprox=382;AS_QD=27.2857;AS_ReadPosRankSum=0.496000;AS_SB_TABLE=53223,82230|9,4;AS_SOR=1.48590;AS_VarDP=14;inbreeding_coeff=-8.77971e-06;AS_culprit=AS_FS;AS_VQSLOD=13.1279;negative_train_site;allele_type=del;n_alt_alleles=28;variant_type=mixed;was_mixed;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|12787|5129|3286|1465|753|755|549|280|284|372|169|114|151|75|44|160;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10824|7932|4559|2232|725|89|8|3|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0651350;cadd_phred=0.980000;pangolin_largest_ds=0.00000;phylop=2.24600;VRS_Allele_IDs=ga4gh:VA.6VQOM5lhSxHB0APub6GMebwuUUvbrX-p,ga4gh:VA.UxMBATrrnRNa9P2hQKL64F8g51RsMMuL;VRS_Starts=5031124,5031125;VRS_Ends=5031138,5031147;VRS_States=CTTTTTTTTTTTTT,TTTTTTTTT;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-918_698-906del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-918_347-906del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-918_347-906del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-918_*312-906del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-918_698-906del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-918_698-906del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-918_698-906del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-918_698-906del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-918_698-906del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031125	rs1218191980	CTTTTTTTTTTTTTT	C	.	PASS	AC=1;AN=52746;AF=1.89588e-05;grpmax=nfe;AC_XX=1;AF_XX=3.54635e-05;AN_XX=28198;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=24548;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5020;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4094;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9114;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=242;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=230;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=472;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2260;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2816;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=5076;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=802;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=730;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1532;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=564;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=584;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1148;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=518;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2232;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2750;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=50;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=38;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=88;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=5.55556e-05;AN_nfe_XX=18000;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=12422;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=3.28709e-05;AN_nfe=30422;nhomalt_nfe=0;AC_raw=1;AF_raw=8.77963e-06;AN_raw=113900;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=294;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=304;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=598;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=448;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1098;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1546;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=3.28709e-05;AN_grpmax=30422;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.80413;MQ=29.9567;MQRankSum=-0.0770000;QUALapprox=2404026;QD=8.06047;ReadPosRankSum=0.358000;SOR=0.826000;VarDP=298249;AS_FS=.;AS_MQ=28.0314;AS_MQRankSum=2.52000;AS_pab_max=1.00000;AS_QUALapprox=477;AS_QD=22.7143;AS_ReadPosRankSum=1.39800;AS_SB_TABLE=53223,82230|10,2;AS_SOR=2.62925;AS_VarDP=21;inbreeding_coeff=-8.77971e-06;AS_culprit=AS_SOR;AS_VQSLOD=-0.255100;negative_train_site;allele_type=del;n_alt_alleles=28;variant_type=mixed;was_mixed;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|12787|5129|3286|1465|753|755|549|280|284|372|169|114|151|75|44|160;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10824|7932|4559|2232|725|89|8|3|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0;cadd_raw_score=-0.0705520;cadd_phred=0.955000;pangolin_largest_ds=0.0100000;phylop=2.24600;VRS_Allele_IDs=ga4gh:VA.g0kyn4n-T7FqjqnQV00igvrB6-Mr43ze,ga4gh:VA.HqQg-8MX_c9Eawvjyy-gkPXbjqgRrTKF;VRS_Starts=5031124,5031125;VRS_Ends=5031139,5031147;VRS_States=CTTTTTTTTTTTTTT,TTTTTTTT;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-919_698-906del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-919_347-906del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-919_347-906del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-919_*312-906del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-919_698-906del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-919_698-906del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-919_698-906del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-919_698-906del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-919_698-906del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031126	rs1219970116	T	A	.	AS_VQSR	AC=2;AN=42820;AF=4.67071e-05;grpmax=sas;fafmax_faf95_max=0.000300220;fafmax_faf95_max_gen_anc=sas;AC_XX=2;AF_XX=8.82379e-05;AN_XX=22666;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=20154;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=3748;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=3022;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=6770;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=210;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=234;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=444;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2034;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2528;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=4562;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=642;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=560;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1202;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=372;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=450;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=822;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=392;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2328;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2720;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=44;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=38;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=82;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=14620;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=9906;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=24526;nhomalt_nfe=0;AC_raw=14;AF_raw=0.000194148;AN_raw=72110;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=268;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=244;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=512;nhomalt_remaining=0;AC_sas_XX=2;AF_sas_XX=0.00595238;AN_sas_XX=336;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=844;nhomalt_sas_XY=0;AC_sas=2;AF_sas=0.00169492;AN_sas=1180;nhomalt_sas=0;AC_grpmax=2;AF_grpmax=0.00169492;AN_grpmax=1180;nhomalt_grpmax=0;faf95=7.74000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.000300220;faf99=2.90000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.000125050;fafmax_faf99_max=0.000125050;fafmax_faf99_max_gen_anc=sas;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=102.920;MQ=30.1499;MQRankSum=0.00000;QUALapprox=6540;QD=3.95644;ReadPosRankSum=0.550000;SOR=6.67600;VarDP=1653;AS_FS=29.7040;AS_MQ=31.8474;AS_MQRankSum=-0.0500000;AS_pab_max=0.687500;AS_QUALapprox=531;AS_QD=1.57101;AS_ReadPosRankSum=0.296000;AS_SB_TABLE=591,630|0,72;AS_SOR=8.45353;AS_VarDP=338;inbreeding_coeff=-0.000194186;AS_culprit=AS_SOR;AS_VQSLOD=-46.3039;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|1|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|12192|4396|2572|1147|509|291|138|58|55|23|9|5|4|0|1|0;dp_hist_alt_bin_freq=0|0|0|2|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|6274|7377|4680|2243|737|74|8|5|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.269139;cadd_phred=3.92900;phylop=-0.232000;VRS_Allele_IDs=ga4gh:VA.IXtN7iU_wkIq0GHzlMhG-MKex9w0G0M1,ga4gh:VA.D5tThzjO0d6ofjACd7QPKMo5Eq9GESPi;VRS_Starts=5031125,5031125;VRS_Ends=5031126,5031126;VRS_States=T,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-927T>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-927T>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-927T>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-927T>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-927T>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-927T>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-927T>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-927T>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-927T>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031126	rs1219970116	T	C	.	AS_VQSR	AC=9;AN=42796;AF=0.000210300;grpmax=afr;fafmax_faf95_max=0.000201620;fafmax_faf95_max_gen_anc=afr;AC_XX=5;AF_XX=0.000220712;AN_XX=22654;nhomalt_XX=0;AC_XY=4;AF_XY=0.000198590;AN_XY=20142;nhomalt_XY=0;nhomalt=0;AC_afr_XX=2;AF_afr_XX=0.000533903;AN_afr_XX=3746;nhomalt_afr_XX=0;AC_afr_XY=2;AF_afr_XY=0.000662252;AN_afr_XY=3020;nhomalt_afr_XY=0;AC_afr=4;AF_afr=0.000591191;AN_afr=6766;nhomalt_afr=0;AC_ami_XX=1;AF_ami_XX=0.00476190;AN_ami_XX=210;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=234;nhomalt_ami_XY=0;AC_ami=1;AF_ami=0.00225225;AN_ami=444;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2028;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2530;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=4558;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=640;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=560;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1200;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=372;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=450;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=822;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=392;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2328;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2720;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=44;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=38;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=82;nhomalt_mid=0;AC_nfe_XX=2;AF_nfe_XX=0.000136818;AN_nfe_XX=14618;nhomalt_nfe_XX=0;AC_nfe_XY=2;AF_nfe_XY=0.000202061;AN_nfe_XY=9898;nhomalt_nfe_XY=0;AC_nfe=4;AF_nfe=0.000163159;AN_nfe=24516;nhomalt_nfe=0;AC_raw=83;AF_raw=0.00115102;AN_raw=72110;nhomalt_raw=2;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=268;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=244;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=512;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=336;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=840;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1176;nhomalt_sas=0;AC_grpmax=4;AF_grpmax=0.000591191;AN_grpmax=6766;nhomalt_grpmax=0;faf95=0.000109500;faf95_afr=0.000201620;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=5.49600e-05;faf95_sas=0.00000;faf99=8.12200e-05;faf99_afr=0.000120690;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=3.35400e-05;faf99_sas=0.00000;fafmax_faf99_max=0.000120690;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=0|0|0|0|1|0|0|0|0|0;age_hist_het_n_smaller=1;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=102.920;MQ=30.1499;MQRankSum=0.00000;QUALapprox=6540;QD=3.95644;ReadPosRankSum=0.550000;SOR=6.67600;VarDP=1653;AS_FS=90.1904;AS_MQ=29.6782;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=6009;AS_QD=4.56958;AS_ReadPosRankSum=0.555000;AS_SB_TABLE=591,630|13,347;AS_SOR=6.30053;AS_VarDP=1315;inbreeding_coeff=0.0470960;AS_culprit=AS_SOR;AS_VQSLOD=-5.00420;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|1|2|3|1|0|1|0|1|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|12188|4392|2572|1146|506|291|138|58|55|23|9|5|4|0|1|0;dp_hist_alt_bin_freq=0|0|9|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|6265|7374|4680|2243|737|74|8|5|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|3|4|2|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.317553;cadd_phred=4.49200;phylop=-0.232000;VRS_Allele_IDs=ga4gh:VA.IXtN7iU_wkIq0GHzlMhG-MKex9w0G0M1,ga4gh:VA.gRDUInkIoZv5bs5A2hZyDm_pF1uVAa0L;VRS_Starts=5031125,5031125;VRS_Ends=5031126,5031126;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-927T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-927T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-927T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-927T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-927T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-927T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-927T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-927T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-927T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031127	.	T	C	.	AC0	AC=0;AN=55500;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=29266;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=26234;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5386;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4294;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9680;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=242;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=268;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=510;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2616;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=3252;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=5868;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=778;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=684;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1462;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=514;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=612;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1126;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=710;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3050;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=3760;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=48;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=46;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=94;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=18148;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=12536;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=30684;nhomalt_nfe=0;AC_raw=3;AF_raw=3.45026e-05;AN_raw=86950;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=340;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=320;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=660;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=484;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1172;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1656;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=16.0971;MQ=27.6347;MQRankSum=-0.480000;QUALapprox=125;QD=3.12500;ReadPosRankSum=0.0670000;SOR=2.22700;VarDP=40;AS_FS=13.0299;AS_MQ=27.7452;AS_MQRankSum=-0.480000;AS_pab_max=0.687500;AS_QUALapprox=101;AS_QD=2.97059;AS_ReadPosRankSum=0.0670000;AS_SB_TABLE=20,10|2,6;AS_SOR=1.74376;AS_VarDP=34;inbreeding_coeff=-3.45038e-05;AS_culprit=AS_MQ;AS_VQSLOD=-2.43580;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|15064|5538|3655|1657|746|514|250|122|96|53|16|15|8|4|2|2;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|8389|9786|5898|2667|865|113|15|7|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.312833;cadd_phred=4.43800;phylop=-0.873000;VRS_Allele_IDs=ga4gh:VA.PSTzN4gPJRxMHgBW7xS-jnzxqzn2FK6U,ga4gh:VA.MCBrEF-6kj9pN_yWSZ0zfKQqDD8Szxem;VRS_Starts=5031126,5031126;VRS_Ends=5031127,5031127;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-926T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-926T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-926T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-926T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-926T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-926T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-926T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-926T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-926T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031131	.	T	C	.	AC0;AS_VQSR	AC=0;AN=97754;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=51342;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=46412;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=12220;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=10182;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=22402;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=370;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=368;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=738;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4406;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5506;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9912;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1326;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1190;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2516;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1326;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1510;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2836;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1380;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4810;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6190;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=100;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=100;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=200;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=28884;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=20272;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=49156;nhomalt_nfe=0;AC_raw=2;AF_raw=1.38204e-05;AN_raw=144714;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=586;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=596;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1182;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=744;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1878;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2622;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.88218;MQ=30.7768;MQRankSum=0.198000;QUALapprox=71;QD=2.53571;ReadPosRankSum=0.0670000;SOR=1.25100;VarDP=28;AS_FS=1.88218;AS_MQ=30.7768;AS_MQRankSum=0.198000;AS_pab_max=0.453125;AS_QUALapprox=71;AS_QD=2.53571;AS_ReadPosRankSum=0.0670000;AS_SB_TABLE=12,10|2,4;AS_SOR=1.25098;AS_VarDP=28;inbreeding_coeff=-1.38206e-05;AS_culprit=AS_QD;AS_VQSLOD=-3.04080;allele_type=snv;n_alt_alleles=1;variant_type=snv;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25463|9315|7226|3480|1371|1019|487|200|165|83|23|23|10|6|4|2;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|16565|18129|9313|3596|1073|158|29|10|3|0|1|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.326938;cadd_phred=4.60100;phylop=0.415000;VRS_Allele_IDs=ga4gh:VA.7Wow3lL2eztobanDEwEvXWpPwJou-mWb,ga4gh:VA.cA2kd9bwY_jTWQVkBTAiePVJBbAK-m8s;VRS_Starts=5031130,5031130;VRS_Ends=5031131,5031131;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-922T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-922T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-922T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-922T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-922T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-922T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-922T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-922T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-922T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031135	.	T	C	.	AC0;AS_VQSR	AC=0;AN=101546;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=53354;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=48192;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=12898;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=10740;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=23638;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=382;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=372;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=754;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4524;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5648;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=10172;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1370;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1222;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2592;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1424;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1618;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3042;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1486;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4946;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6432;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=104;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=110;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=214;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=29776;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=20924;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=50700;nhomalt_nfe=0;AC_raw=2;AF_raw=1.37297e-05;AN_raw=145670;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=624;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=628;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1252;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=766;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1984;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2750;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=9.64327e-16;MQ=27.0000;MQRankSum=0.720000;QUALapprox=95;QD=6.33333;ReadPosRankSum=0.762000;SOR=0.330000;VarDP=15;AS_FS=9.64327e-16;AS_MQ=27.0000;AS_MQRankSum=0.720000;AS_pab_max=0.687500;AS_QUALapprox=95;AS_QD=6.33333;AS_ReadPosRankSum=0.762000;AS_SB_TABLE=7,4|2,2;AS_SOR=0.329753;AS_VarDP=15;inbreeding_coeff=-1.37299e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.69000;allele_type=snv;n_alt_alleles=1;variant_type=snv;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|27115|9409|7315|3516|1386|1026|488|201|165|84|23|23|10|6|4|2;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|17848|18669|9375|3609|1071|158|29|10|3|0|1|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.329133;cadd_phred=4.62600;phylop=-1.92200;VRS_Allele_IDs=ga4gh:VA.N8y79edGZ2YjJrbzdrILH0ezG_YQVqef,ga4gh:VA.NBDgPx0mlkbRmi5--oa9STLgOkCCJQUV;VRS_Starts=5031134,5031134;VRS_Ends=5031135,5031135;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-918T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-918T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-918T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-918T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-918T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-918T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-918T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-918T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-918T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031138	.	T	C	.	AC0;AS_VQSR	AC=0;AN=104328;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=54760;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=49568;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=13452;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=11246;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=24698;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=382;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=378;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=760;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4584;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5768;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=10352;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1382;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1254;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2636;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1482;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1680;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3162;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1526;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5044;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6570;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=106;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=110;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=216;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=30412;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=21362;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=51774;nhomalt_nfe=0;AC_raw=4;AF_raw=2.73673e-05;AN_raw=146160;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=648;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=652;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1300;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=786;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2074;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2860;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=36.2812;MQRankSum=1.82600;QUALapprox=89;QD=1.71154;ReadPosRankSum=-1.82600;SOR=0.527000;VarDP=52;AS_FS=0.00000;AS_MQ=36.2812;AS_MQRankSum=1.82600;AS_pab_max=0.687500;AS_QUALapprox=89;AS_QD=1.71154;AS_ReadPosRankSum=-1.82600;AS_SB_TABLE=19,23|5,5;AS_SOR=0.527355;AS_VarDP=52;inbreeding_coeff=-2.73680e-05;AS_culprit=AS_QD;AS_VQSLOD=-4.61520;allele_type=snv;n_alt_alleles=1;variant_type=snv;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|28349|9453|7370|3556|1399|1028|489|203|165|84|23|23|10|6|4|2;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18798|19049|9434|3612|1069|159|29|10|3|0|1|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.332598;cadd_phred=4.66600;phylop=0.260000;VRS_Allele_IDs=ga4gh:VA.CmrRLuGsWZ0Fwm33MbMLc9j9da2lAT64,ga4gh:VA.vKjq5pygD-0yhOlZFy6x5tpLkWIJ87gJ;VRS_Starts=5031137,5031137;VRS_Ends=5031138,5031138;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-915T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-915T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-915T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-915T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-915T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-915T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-915T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-915T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-915T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031144	.	T	C	.	AC0;AS_VQSR	AC=0;AN=114364;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=59936;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=54428;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=15514;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=13116;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=28630;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=408;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=392;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=800;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4924;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6092;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11016;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1512;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1340;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2852;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1660;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1908;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3568;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1716;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5420;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7136;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=112;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=114;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=226;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=32526;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=22958;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=55484;nhomalt_nfe=0;AC_raw=2;AF_raw=1.34976e-05;AN_raw=148174;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=708;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=716;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1424;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=856;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2372;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3228;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=3.70085;MQ=31.4674;MQRankSum=-0.0670000;QUALapprox=122;QD=2.21818;ReadPosRankSum=1.44400;SOR=1.60900;VarDP=55;AS_FS=0.00000;AS_MQ=29.1753;AS_MQRankSum=0.238000;AS_pab_max=0.179688;AS_QUALapprox=77;AS_QD=3.08000;AS_ReadPosRankSum=1.82600;AS_SB_TABLE=24,24|2,2;AS_SOR=0.693147;AS_VarDP=25;inbreeding_coeff=-1.34978e-05;AS_culprit=AS_MQ;AS_VQSLOD=-2.50680;negative_train_site;allele_type=snv;n_alt_alleles=2;variant_type=mixed;was_mixed;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|32684|9702|7627|3664|1429|1053|502|203|167|83|23|23|10|6|4|2;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|22652|20072|9564|3621|1071|159|29|10|3|0|1|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.318167;cadd_phred=4.49900;phylop=0.260000;VRS_Allele_IDs=ga4gh:VA.na7YhOr799HN6aU0bV417sWpv3dQpKPr,ga4gh:VA.NEy5rxHyjqObRNorTG7aEXTjzw8unzgH;VRS_Starts=5031143,5031143;VRS_Ends=5031144,5031144;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-909T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-909T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-909T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-909T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-909T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-909T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-909T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-909T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-909T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031145	rs1361550371	T	C	.	AC0;AS_VQSR	AC=0;AN=115776;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=60662;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=55114;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=15778;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=13350;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=29128;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=410;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=394;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=804;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4968;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6146;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11114;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1528;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1348;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2876;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1676;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1930;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3606;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1730;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5508;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7238;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=116;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=116;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=232;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=32858;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23194;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=56052;nhomalt_nfe=0;AC_raw=1;AF_raw=6.73718e-06;AN_raw=148430;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=726;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=730;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1456;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=872;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2398;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3270;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=30.7080;MQRankSum=1.46900;QUALapprox=397;QD=8.63043;ReadPosRankSum=0.742000;SOR=0.763000;VarDP=46;AS_FS=1.21800;AS_MQ=31.6815;AS_MQRankSum=1.58900;AS_pab_max=0.523467;AS_QUALapprox=357;AS_QD=11.9000;AS_ReadPosRankSum=1.06800;AS_SB_TABLE=13,15|6,9;AS_SOR=0.940983;AS_VarDP=30;inbreeding_coeff=-6.73723e-06;AS_culprit=AS_MQ;AS_VQSLOD=-2.76120;negative_train_site;allele_type=snv;n_alt_alleles=3;variant_type=mixed;was_mixed;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|33241|9741|7685|3695|1439|1061|505|203|167|83|23|23|10|6|4|2;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|23243|20186|9567|3620|1070|159|29|10|3|0|1|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.324174;cadd_phred=4.56900;phylop=0.260000;VRS_Allele_IDs=ga4gh:VA.6vv-pEpudESQubjkupiCVmUgYMgxPW9B,ga4gh:VA.FYcuNz9inxp7IKj70WZSXJBRl4NUc3ME;VRS_Starts=5031144,5031144;VRS_Ends=5031145,5031145;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-908T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-908T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-908T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-908T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-908T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-908T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-908T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-908T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-908T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031146	rs1987121586	TTG	T	.	AS_VQSR	AC=1;AN=116290;AF=8.59919e-06;grpmax=afr;AC_XX=0;AF_XX=0.00000;AN_XX=60862;nhomalt_XX=0;AC_XY=1;AF_XY=1.80414e-05;AN_XY=55428;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=15906;nhomalt_afr_XX=0;AC_afr_XY=1;AF_afr_XY=7.37681e-05;AN_afr_XY=13556;nhomalt_afr_XY=0;AC_afr=1;AF_afr=3.39420e-05;AN_afr=29462;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=408;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=394;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=802;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4946;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6146;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11092;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1546;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1348;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2894;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1684;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1950;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3634;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1712;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5508;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7220;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=102;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=114;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=216;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=32966;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23254;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=56220;nhomalt_nfe=0;AC_raw=5;AF_raw=3.37236e-05;AN_raw=148264;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=734;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=740;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1474;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=858;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2418;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3276;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=3.39420e-05;AN_grpmax=29462;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=42.0447;MQ=30.3653;MQRankSum=-0.0670000;QUALapprox=410;QD=3.22835;ReadPosRankSum=0.736000;SOR=3.33500;VarDP=127;AS_FS=53.8859;AS_MQ=30.3350;AS_MQRankSum=-0.0670000;AS_pab_max=0.375000;AS_QUALapprox=372;AS_QD=3.07438;AS_ReadPosRankSum=0.736000;AS_SB_TABLE=43,61|20,1;AS_SOR=4.70731;AS_VarDP=121;inbreeding_coeff=-3.37248e-05;AS_culprit=AS_FS;AS_VQSLOD=-16.8321;allele_type=del;n_alt_alleles=2;variant_type=mixed;was_mixed;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|33374|9734|7716|3716|1450|1075|512|204|169|83|23|22|10|6|4|2;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|23471|20175|9565|3619|1069|158|29|10|3|0|1|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0792190;cadd_phred=0.916000;phylop=0.260000;VRS_Allele_IDs=ga4gh:VA.MHNhJa54m43UNUpEk11oRathRvDge4zp,ga4gh:VA.8mSQM-Sw9XnSEZ6TtNEctusiUOsa0yor;VRS_Starts=5031145,5031146;VRS_Ends=5031148,5031148;VRS_States=TTG,;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-906_698-905del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-906_347-905del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-906_347-905del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-906_*312-905del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-906_698-905del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-906_698-905del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-906_698-905del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-906_698-905del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-906_698-905del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031147	.	T	TTTA	.	AC0;AS_VQSR	AC=0;AN=97766;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=51278;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=46488;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=12102;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=10206;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=22308;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=376;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=362;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=738;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4162;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5078;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9240;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1312;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1166;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2478;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1218;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1444;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2662;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1406;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4716;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6122;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=84;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=182;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=29248;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=20682;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=49930;nhomalt_nfe=0;AC_raw=1;AF_raw=7.52072e-06;AN_raw=132966;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=598;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=632;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1230;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=758;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2118;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2876;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=131.293;MQ=29.5109;MQRankSum=0.00000;QUALapprox=44190;QD=3.44965;ReadPosRankSum=0.720000;SOR=6.78100;VarDP=12810;AS_FS=.;AS_MQ=29.5664;AS_MQRankSum=-0.589000;AS_pab_max=1.00000;AS_QUALapprox=100;AS_QD=5.55556;AS_ReadPosRankSum=-1.23100;AS_SB_TABLE=3900,5937|6,0;AS_SOR=3.90059;AS_VarDP=18;inbreeding_coeff=-7.52078e-06;AS_culprit=AS_SOR;AS_VQSLOD=-5.58580;negative_train_site;allele_type=ins;n_alt_alleles=10;variant_type=mixed;was_mixed;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|27283|8577|6507|3205|1327|982|470|201|149|85|26|24|16|11|5|15;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18325|17239|8665|3435|1028|150|27|10|3|0|1|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0315680;cadd_phred=1.15000;phylop=0.260000;VRS_Allele_IDs=ga4gh:VA.y1xpViWDhJfggW75b-3iV7_PBpwOUuKh,ga4gh:VA.sPP1yNJ_mdjiA-zqHOvS46tf0ar6tgpv;VRS_Starts=5031146,5031147;VRS_Ends=5031147,5031147;VRS_States=T,TTA;vep=TTA|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-906_698-905insTTA|||||||1||1||insertion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,TTA|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-906_347-905insTTA|||||||1||1||insertion||||||5|||ENSP00000484302||Ensembl|||||||||||||,TTA|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-906_347-905insTTA|||||||1||1||insertion||||||2|||ENSP00000485649||Ensembl|||||||||||||,TTA|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-906_*312-905insTTA|||||||1||1||insertion||||||2|||ENSP00000485557||Ensembl|||||||||||||,TTA|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-906_698-905insTTA|||||||1||1||insertion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,TTA|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-906_698-905insTTA|||||||1||1||insertion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,TTA|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-906_698-905insTTA|||||||1||1||insertion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,TTA|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-906_698-905insTTA|||||||1||1||insertion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,TTA|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-906_698-905insTTA|||||||1||1||insertion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031147	rs1296369948	TG	T	.	AS_VQSR	AC=177;AN=97682;AF=0.00181200;grpmax=eas;fafmax_faf95_max=0.00242315;fafmax_faf95_max_gen_anc=afr;AC_XX=88;AF_XX=0.00171929;AN_XX=51184;nhomalt_XX=0;AC_XY=89;AF_XY=0.00191406;AN_XY=46498;nhomalt_XY=0;nhomalt=0;AC_afr_XX=33;AF_afr_XX=0.00273043;AN_afr_XX=12086;nhomalt_afr_XX=0;AC_afr_XY=34;AF_afr_XY=0.00331772;AN_afr_XY=10248;nhomalt_afr_XY=0;AC_afr=67;AF_afr=0.00299991;AN_afr=22334;nhomalt_afr=0;AC_ami_XX=1;AF_ami_XX=0.00265957;AN_ami_XX=376;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=362;nhomalt_ami_XY=0;AC_ami=1;AF_ami=0.00135501;AN_ami=738;nhomalt_ami=0;AC_amr_XX=2;AF_amr_XX=0.000480538;AN_amr_XX=4162;nhomalt_amr_XX=0;AC_amr_XY=2;AF_amr_XY=0.000394166;AN_amr_XY=5074;nhomalt_amr_XY=0;AC_amr=4;AF_amr=0.000433088;AN_amr=9236;nhomalt_amr=0;AC_asj_XX=1;AF_asj_XX=0.000763359;AN_asj_XX=1310;nhomalt_asj_XX=0;AC_asj_XY=9;AF_asj_XY=0.00771870;AN_asj_XY=1166;nhomalt_asj_XY=0;AC_asj=10;AF_asj=0.00403877;AN_asj=2476;nhomalt_asj=0;AC_eas_XX=7;AF_eas_XX=0.00576606;AN_eas_XX=1214;nhomalt_eas_XX=0;AC_eas_XY=3;AF_eas_XY=0.00207756;AN_eas_XY=1444;nhomalt_eas_XY=0;AC_eas=10;AF_eas=0.00376223;AN_eas=2658;nhomalt_eas=0;AC_fin_XX=2;AF_fin_XX=0.00142450;AN_fin_XX=1404;nhomalt_fin_XX=0;AC_fin_XY=2;AF_fin_XY=0.000424268;AN_fin_XY=4714;nhomalt_fin_XY=0;AC_fin=4;AF_fin=0.000653808;AN_fin=6118;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=88;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=86;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=174;nhomalt_mid=0;AC_nfe_XX=38;AF_nfe_XX=0.00130217;AN_nfe_XX=29182;nhomalt_nfe_XX=0;AC_nfe_XY=34;AF_nfe_XY=0.00164649;AN_nfe_XY=20650;nhomalt_nfe_XY=0;AC_nfe=72;AF_nfe=0.00144485;AN_nfe=49832;nhomalt_nfe=0;AC_raw=698;AF_raw=0.00524623;AN_raw=133048;nhomalt_raw=3;AC_remaining_XX=3;AF_remaining_XX=0.00490196;AN_remaining_XX=612;nhomalt_remaining_XX=0;AC_remaining_XY=3;AF_remaining_XY=0.00471698;AN_remaining_XY=636;nhomalt_remaining_XY=0;AC_remaining=6;AF_remaining=0.00480769;AN_remaining=1248;nhomalt_remaining=0;AC_sas_XX=1;AF_sas_XX=0.00133333;AN_sas_XX=750;nhomalt_sas_XX=0;AC_sas_XY=2;AF_sas_XY=0.000944287;AN_sas_XY=2118;nhomalt_sas_XY=0;AC_sas=3;AF_sas=0.00104603;AN_sas=2868;nhomalt_sas=0;AC_grpmax=10;AF_grpmax=0.00376223;AN_grpmax=2658;nhomalt_grpmax=0;faf95=0.00159345;faf95_afr=0.00242315;faf95_amr=0.000147290;faf95_eas=0.00204058;faf95_nfe=0.00117623;faf95_sas=0.000284620;faf99=0.00150960;faf99_afr=0.00221297;faf99_amr=8.83600e-05;faf99_eas=0.00155382;faf99_nfe=0.00107792;faf99_sas=0.000151330;fafmax_faf99_max=0.00221297;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=3|4|2|3|12|11|5|8|4|4;age_hist_het_n_smaller=9;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=131.293;MQ=29.5109;MQRankSum=0.00000;QUALapprox=44190;QD=3.44965;ReadPosRankSum=0.720000;SOR=6.78100;VarDP=12810;AS_FS=131.096;AS_MQ=29.4963;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=42887;AS_QD=3.42138;AS_ReadPosRankSum=0.727000;AS_SB_TABLE=3900,5937|2825,81;AS_SOR=7.08016;AS_VarDP=12535;inbreeding_coeff=0.00336743;AS_culprit=AS_FS;AS_VQSLOD=-92.9414;negative_train_site;allele_type=del;n_alt_alleles=10;variant_type=mixed;was_mixed;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|16|24|10|18|17|23|9|12|7|9|7|1|6|4|1|12;gq_hist_all_bin_freq=0|0|0|0|27261|8562|6488|3199|1319|974|468|201|148|84|26|24|15|11|5|15;dp_hist_alt_bin_freq=0|0|134|38|3|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18278|17209|8660|3434|1028|150|27|10|3|0|1|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|67|71|20|10|6|2|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0812840;cadd_phred=0.907000;phylop=0.260000;VRS_Allele_IDs=ga4gh:VA.Lwh90ApHDLNEdQwHkD_K-Gyi9zQnFeGz,ga4gh:VA.5LEzdea67VNwTHO2-9bd8hIny_paijwF;VRS_Starts=5031146,5031147;VRS_Ends=5031148,5031148;VRS_States=TG,;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-905del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-905del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-905del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-905del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-905del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-905del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-905del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-905del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-905del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031147	.	TGA	T	.	AS_VQSR	AC=1;AN=97848;AF=1.02199e-05;grpmax=afr;AC_XX=0;AF_XX=0.00000;AN_XX=51290;nhomalt_XX=0;AC_XY=1;AF_XY=2.14786e-05;AN_XY=46558;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=12112;nhomalt_afr_XX=0;AC_afr_XY=1;AF_afr_XY=9.74279e-05;AN_afr_XY=10264;nhomalt_afr_XY=0;AC_afr=1;AF_afr=4.46907e-05;AN_afr=22376;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=376;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=362;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=738;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4170;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5082;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9252;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1312;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1166;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2478;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1216;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1446;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2662;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1406;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4716;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6122;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=88;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=86;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=174;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=29246;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=20682;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=49928;nhomalt_nfe=0;AC_raw=1;AF_raw=7.51608e-06;AN_raw=133048;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=612;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=636;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1248;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=752;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2118;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2870;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=4.46907e-05;AN_grpmax=22376;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=131.293;MQ=29.5109;MQRankSum=0.00000;QUALapprox=44190;QD=3.44965;ReadPosRankSum=0.720000;SOR=6.78100;VarDP=12810;AS_FS=.;AS_MQ=27.2883;AS_MQRankSum=0.736000;AS_pab_max=1.00000;AS_QUALapprox=212;AS_QD=9.21739;AS_ReadPosRankSum=0.736000;AS_SB_TABLE=3900,5937|8,0;AS_SOR=4.39976;AS_VarDP=23;inbreeding_coeff=-7.51614e-06;AS_culprit=AS_SOR;AS_VQSLOD=-5.99520;negative_train_site;allele_type=del;n_alt_alleles=10;variant_type=mixed;was_mixed;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|27283|8577|6507|3205|1327|982|470|201|149|85|26|24|16|11|5|15;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18325|17239|8665|3435|1028|150|27|10|3|0|1|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0756590;cadd_phred=0.932000;phylop=0.260000;VRS_Allele_IDs=ga4gh:VA.tedIVrcUPNHanxY9utbd7Yf2qUPJMgU4,ga4gh:VA.B_KK8M-FhbzKk2QxHLYX1jT5rS3fRWJu;VRS_Starts=5031146,5031147;VRS_Ends=5031149,5031151;VRS_States=TGA,GA;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-903_698-902del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-903_347-902del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-903_347-902del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-903_*312-902del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-903_698-902del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-903_698-902del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-903_698-902del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-903_698-902del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-903_698-902del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031147	.	TGAGACGGA	T	.	AC0;AS_VQSR	AC=0;AN=97766;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=51278;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=46488;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=12102;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=10206;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=22308;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=376;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=362;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=738;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4162;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5078;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9240;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1312;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1166;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2478;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1218;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1444;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2662;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1406;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4716;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6122;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=84;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=182;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=29248;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=20682;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=49930;nhomalt_nfe=0;AC_raw=2;AF_raw=1.50414e-05;AN_raw=132966;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=598;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=632;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1230;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=758;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2118;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2876;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=131.293;MQ=29.5109;MQRankSum=0.00000;QUALapprox=44190;QD=3.44965;ReadPosRankSum=0.720000;SOR=6.78100;VarDP=12810;AS_FS=.;AS_MQ=30.3587;AS_MQRankSum=-0.370000;AS_pab_max=1.00000;AS_QUALapprox=440;AS_QD=3.92857;AS_ReadPosRankSum=0.727000;AS_SB_TABLE=3900,5937|21,1;AS_SOR=4.79935;AS_VarDP=112;inbreeding_coeff=-1.50417e-05;AS_culprit=AS_SOR;AS_VQSLOD=-8.22470;negative_train_site;allele_type=del;n_alt_alleles=10;variant_type=mixed;was_mixed;lcr;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|27283|8577|6507|3205|1327|982|470|201|149|85|26|24|16|11|5|15;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18325|17239|8665|3435|1028|150|27|10|3|0|1|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.102781;cadd_phred=0.818000;phylop=0.260000;VRS_Allele_IDs=ga4gh:VA.9CAMkiN3wn6-OlwxrN8jI_wX-z9dLu5a,ga4gh:VA.iiXUsIEOdtVVsz7WDdip86byjXh1l8J2;VRS_Starts=5031146,5031147;VRS_Ends=5031155,5031155;VRS_States=TGAGACGGA,;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-905_698-898del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-905_347-898del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-905_347-898del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-905_*312-898del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-905_698-898del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-905_698-898del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-905_698-898del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-905_698-898del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-905_698-898del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031148	rs1401965106	G	T	.	AS_VQSR	AC=676;AN=34278;AF=0.0197211;grpmax=eas;fafmax_faf95_max=0.0196772;fafmax_faf95_max_gen_anc=nfe;AC_XX=380;AF_XX=0.0207310;AN_XX=18330;nhomalt_XX=0;AC_XY=296;AF_XY=0.0185603;AN_XY=15948;nhomalt_XY=0;nhomalt=0;AC_afr_XX=69;AF_afr_XX=0.0182154;AN_afr_XX=3788;nhomalt_afr_XX=0;AC_afr_XY=52;AF_afr_XY=0.0163419;AN_afr_XY=3182;nhomalt_afr_XY=0;AC_afr=121;AF_afr=0.0173601;AN_afr=6970;nhomalt_afr=0;AC_ami_XX=3;AF_ami_XX=0.0277778;AN_ami_XX=108;nhomalt_ami_XX=0;AC_ami_XY=4;AF_ami_XY=0.0344828;AN_ami_XY=116;nhomalt_ami_XY=0;AC_ami=7;AF_ami=0.0312500;AN_ami=224;nhomalt_ami=0;AC_amr_XX=21;AF_amr_XX=0.0148725;AN_amr_XX=1412;nhomalt_amr_XX=0;AC_amr_XY=25;AF_amr_XY=0.0158028;AN_amr_XY=1582;nhomalt_amr_XY=0;AC_amr=46;AF_amr=0.0153641;AN_amr=2994;nhomalt_amr=0;AC_asj_XX=10;AF_asj_XX=0.0197628;AN_asj_XX=506;nhomalt_asj_XX=0;AC_asj_XY=13;AF_asj_XY=0.0273109;AN_asj_XY=476;nhomalt_asj_XY=0;AC_asj=23;AF_asj=0.0234216;AN_asj=982;nhomalt_asj=0;AC_eas_XX=13;AF_eas_XX=0.0305164;AN_eas_XX=426;nhomalt_eas_XX=0;AC_eas_XY=12;AF_eas_XY=0.0230769;AN_eas_XY=520;nhomalt_eas_XY=0;AC_eas=25;AF_eas=0.0264271;AN_eas=946;nhomalt_eas=0;AC_fin_XX=11;AF_fin_XX=0.0192982;AN_fin_XX=570;nhomalt_fin_XX=0;AC_fin_XY=15;AF_fin_XY=0.00998668;AN_fin_XY=1502;nhomalt_fin_XY=0;AC_fin=26;AF_fin=0.0125483;AN_fin=2072;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=38;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=32;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=70;nhomalt_mid=0;AC_nfe_XX=243;AF_nfe_XX=0.0221110;AN_nfe_XX=10990;nhomalt_nfe_XX=0;AC_nfe_XY=155;AF_nfe_XY=0.0204001;AN_nfe_XY=7598;nhomalt_nfe_XY=0;AC_nfe=398;AF_nfe=0.0214117;AN_nfe=18588;nhomalt_nfe=0;AC_raw=1453;AF_raw=0.0219109;AN_raw=66314;nhomalt_raw=2;AC_remaining_XX=3;AF_remaining_XX=0.0142857;AN_remaining_XX=210;nhomalt_remaining_XX=0;AC_remaining_XY=7;AF_remaining_XY=0.0321101;AN_remaining_XY=218;nhomalt_remaining_XY=0;AC_remaining=10;AF_remaining=0.0233645;AN_remaining=428;nhomalt_remaining=0;AC_sas_XX=7;AF_sas_XX=0.0248227;AN_sas_XX=282;nhomalt_sas_XX=0;AC_sas_XY=13;AF_sas_XY=0.0180055;AN_sas_XY=722;nhomalt_sas_XY=0;AC_sas=20;AF_sas=0.0199203;AN_sas=1004;nhomalt_sas=0;AC_grpmax=25;AF_grpmax=0.0264271;AN_grpmax=946;nhomalt_grpmax=0;faf95=0.0184899;faf95_afr=0.0148477;faf95_amr=0.0118371;faf95_eas=0.0183742;faf95_nfe=0.0196772;faf95_sas=0.0132017;faf99=0.0179994;faf99_afr=0.0139000;faf99_amr=0.0105886;faf99_eas=0.0157011;faf99_nfe=0.0189936;faf99_sas=0.0110379;fafmax_faf99_max=0.0189936;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=12|8|15|35|38|37|37|31|25|15;age_hist_het_n_smaller=17;age_hist_het_n_larger=1;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=184.127;MQ=30.8545;MQRankSum=-0.530000;QUALapprox=89920;QD=2.23877;ReadPosRankSum=-0.296000;SOR=7.34200;VarDP=40165;AS_FS=185.254;AS_MQ=30.8598;AS_MQRankSum=-0.515000;AS_pab_max=1.00000;AS_QUALapprox=89507;AS_QD=2.23566;AS_ReadPosRankSum=-0.326000;AS_SB_TABLE=9251,20078|10543,268;AS_SOR=7.33734;AS_VarDP=40036;inbreeding_coeff=-0.0195872;AS_culprit=AS_FS;AS_VQSLOD=-4.64960;allele_type=snv;n_alt_alleles=2;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|106|107|68|79|67|52|55|35|17|20|15|17|7|11|5|15;gq_hist_all_bin_freq=0|0|0|0|11765|2544|1326|614|257|211|154|79|45|35|19|22|17|13|6|17;dp_hist_alt_bin_freq=0|0|285|222|119|38|7|3|1|1|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|5698|6273|3370|1385|356|31|8|3|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|166|172|136|78|70|22|30|0|1|1|0|0|0|0|0|0;cadd_raw_score=0.0815250;cadd_phred=1.93100;phylop=0.322000;VRS_Allele_IDs=ga4gh:VA.qdX8GNGzl30tCNaPy_V-vV9Uu7eRkbQY,ga4gh:VA.ocsxoqpW89CPnDvNf8eNhvfe_qbCrMQ1;VRS_Starts=5031147,5031147;VRS_Ends=5031148,5031148;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-905G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-905G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-905G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-905G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-905G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-905G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-905G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-905G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-905G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031148	rs1361060574	GA	G	.	AC0;AS_VQSR	AC=0;AN=34504;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=18474;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=16030;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=3804;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=3176;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=6980;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=108;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=118;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=226;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1434;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1604;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=3038;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=510;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=480;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=990;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=432;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=524;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=956;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=578;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1508;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2086;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=44;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=32;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=76;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=11074;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=7642;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=18716;nhomalt_nfe=0;AC_raw=4;AF_raw=6.03482e-05;AN_raw=66282;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=206;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=218;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=424;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=284;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=728;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1012;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=184.127;MQ=30.8545;MQRankSum=-0.530000;QUALapprox=89920;QD=2.23877;ReadPosRankSum=-0.296000;SOR=7.34200;VarDP=40165;AS_FS=.;AS_MQ=29.0846;AS_MQRankSum=0.406000;AS_pab_max=1.00000;AS_QUALapprox=413;AS_QD=3.20155;AS_ReadPosRankSum=-0.0850000;AS_SB_TABLE=9251,20078|25,0;AS_SOR=6.51651;AS_VarDP=129;inbreeding_coeff=-6.03519e-05;AS_culprit=AS_SOR;AS_VQSLOD=-15.4812;allele_type=del;n_alt_alleles=2;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|11796|2580|1340|631|264|223|159|81|45|35|20|22|17|15|6|18;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|5741|6311|3403|1396|359|31|8|3|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0816770;cadd_phred=0.905000;phylop=0.322000;VRS_Allele_IDs=ga4gh:VA.m35rfc-ruFiCePcYIoPm26rUUcMTgMNE,ga4gh:VA.qjk01DQIfsMe4mvo6MUtreHg43kwlNLr;VRS_Starts=5031147,5031148;VRS_Ends=5031149,5031149;VRS_States=GA,;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-904del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-904del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-904del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-904del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-904del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-904del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-904del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-904del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-904del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031149	.	A	ATTT	.	AS_VQSR	AC=1;AN=64086;AF=1.56040e-05;grpmax=afr;AC_XX=0;AF_XX=0.00000;AN_XX=34340;nhomalt_XX=0;AC_XY=1;AF_XY=3.36180e-05;AN_XY=29746;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=6960;nhomalt_afr_XX=0;AC_afr_XY=1;AF_afr_XY=0.000168520;AN_afr_XY=5934;nhomalt_afr_XY=0;AC_afr=1;AF_afr=7.75555e-05;AN_afr=12894;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=252;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=266;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=518;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2646;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2972;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=5618;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=998;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=854;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1852;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=682;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=884;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1566;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=824;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2540;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=3364;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=52;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=60;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=112;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=21124;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=14492;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=35616;nhomalt_nfe=0;AC_raw=1;AF_raw=9.64023e-06;AN_raw=103732;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=390;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=412;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=802;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=412;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1332;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1744;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=7.75555e-05;AN_grpmax=12894;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=146.420;MQ=30.6671;MQRankSum=-0.527000;QUALapprox=24014;QD=2.68854;ReadPosRankSum=0.00000;SOR=6.36400;VarDP=8932;AS_FS=.;AS_MQ=27.2883;AS_MQRankSum=0.336000;AS_pab_max=1.00000;AS_QUALapprox=212;AS_QD=9.21739;AS_ReadPosRankSum=0.898000;AS_SB_TABLE=2385,4517|8,0;AS_SOR=4.39789;AS_VarDP=23;inbreeding_coeff=-9.64032e-06;AS_culprit=AS_SOR;AS_VQSLOD=-5.94020;negative_train_site;allele_type=ins;n_alt_alleles=5;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|19980|5689|3463|1569|606|361|177|65|43|30|11|10|6|10|1|7;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9175|12401|6799|2833|719|78|17|4|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0374660;cadd_phred=1.11800;phylop=0.259000;VRS_Allele_IDs=ga4gh:VA.bC7rmDaq2_1G7E2L-qEnut8DvIVzOy6w,ga4gh:VA.AyCmEYAkzIFmwm1I4y0yYLhemcFAmsKF;VRS_Starts=5031148,5031149;VRS_Ends=5031149,5031149;VRS_States=A,TTT;vep=TTT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-904_698-903insTTT|||||||1||1||insertion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,TTT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-904_347-903insTTT|||||||1||1||insertion||||||5|||ENSP00000484302||Ensembl|||||||||||||,TTT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-904_347-903insTTT|||||||1||1||insertion||||||2|||ENSP00000485649||Ensembl|||||||||||||,TTT|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-904_*312-903insTTT|||||||1||1||insertion||||||2|||ENSP00000485557||Ensembl|||||||||||||,TTT|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-904_698-903insTTT|||||||1||1||insertion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,TTT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-904_698-903insTTT|||||||1||1||insertion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,TTT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-904_698-903insTTT|||||||1||1||insertion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,TTT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-904_698-903insTTT|||||||1||1||insertion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,TTT|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-904_698-903insTTT|||||||1||1||insertion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031149	.	A	G	.	AS_VQSR	AC=1;AN=64056;AF=1.56113e-05;grpmax=nfe;AC_XX=1;AF_XX=2.91358e-05;AN_XX=34322;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=29734;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=6958;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=5932;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=12890;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=252;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=266;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=518;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2644;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2972;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=5616;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=998;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=854;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1852;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=682;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=882;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1564;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=824;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2540;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=3364;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=52;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=60;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=112;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=4.73664e-05;AN_nfe_XX=21112;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=14486;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=2.80915e-05;AN_nfe=35598;nhomalt_nfe=0;AC_raw=34;AF_raw=0.000327768;AN_raw=103732;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=390;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=410;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=800;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=410;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1332;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1742;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=2.80915e-05;AN_grpmax=35598;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=146.420;MQ=30.6671;MQRankSum=-0.527000;QUALapprox=24014;QD=2.68854;ReadPosRankSum=0.00000;SOR=6.36400;VarDP=8932;AS_FS=9.07184;AS_MQ=31.7269;AS_MQRankSum=-0.572000;AS_pab_max=1.00000;AS_QUALapprox=1913;AS_QD=2.72896;AS_ReadPosRankSum=0.265000;AS_SB_TABLE=2385,4517|103,2;AS_SOR=7.09179;AS_VarDP=701;inbreeding_coeff=-0.000327875;AS_culprit=AS_SOR;AS_VQSLOD=-39.2980;negative_train_site;allele_type=snv;n_alt_alleles=5;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|19979|5686|3462|1569|604|356|176|64|43|30|11|10|6|9|1|7;dp_hist_alt_bin_freq=0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9164|12398|6798|2833|719|78|17|4|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.283315;cadd_phred=4.09400;phylop=0.259000;VRS_Allele_IDs=ga4gh:VA.bC7rmDaq2_1G7E2L-qEnut8DvIVzOy6w,ga4gh:VA.IRf1yHE4zsPk6ombcmF9iSMalJG1aAB8;VRS_Starts=5031148,5031148;VRS_Ends=5031149,5031149;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-904A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-904A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-904A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-904A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-904A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-904A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-904A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-904A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-904A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031149	rs2123012740	A	T	.	PASS	AC=111;AN=63956;AF=0.00173557;grpmax=eas;fafmax_faf95_max=0.00152318;fafmax_faf95_max_gen_anc=nfe;AC_XX=71;AF_XX=0.00207239;AN_XX=34260;nhomalt_XX=0;AC_XY=40;AF_XY=0.00134698;AN_XY=29696;nhomalt_XY=0;nhomalt=0;AC_afr_XX=14;AF_afr_XX=0.00201323;AN_afr_XX=6954;nhomalt_afr_XX=0;AC_afr_XY=7;AF_afr_XY=0.00118044;AN_afr_XY=5930;nhomalt_afr_XY=0;AC_afr=21;AF_afr=0.00162993;AN_afr=12884;nhomalt_afr=0;AC_ami_XX=1;AF_ami_XX=0.00396825;AN_ami_XX=252;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=266;nhomalt_ami_XY=0;AC_ami=1;AF_ami=0.00193050;AN_ami=518;nhomalt_ami=0;AC_amr_XX=3;AF_amr_XX=0.00113723;AN_amr_XX=2638;nhomalt_amr_XX=0;AC_amr_XY=3;AF_amr_XY=0.00101283;AN_amr_XY=2962;nhomalt_amr_XY=0;AC_amr=6;AF_amr=0.00107143;AN_amr=5600;nhomalt_amr=0;AC_asj_XX=3;AF_asj_XX=0.00301811;AN_asj_XX=994;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=852;nhomalt_asj_XY=0;AC_asj=3;AF_asj=0.00162514;AN_asj=1846;nhomalt_asj=0;AC_eas_XX=2;AF_eas_XX=0.00294118;AN_eas_XX=680;nhomalt_eas_XX=0;AC_eas_XY=3;AF_eas_XY=0.00339367;AN_eas_XY=884;nhomalt_eas_XY=0;AC_eas=5;AF_eas=0.00319693;AN_eas=1564;nhomalt_eas=0;AC_fin_XX=1;AF_fin_XX=0.00121655;AN_fin_XX=822;nhomalt_fin_XX=0;AC_fin_XY=2;AF_fin_XY=0.000787402;AN_fin_XY=2540;nhomalt_fin_XY=0;AC_fin=3;AF_fin=0.000892326;AN_fin=3362;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=50;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=60;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=110;nhomalt_mid=0;AC_nfe_XX=45;AF_nfe_XX=0.00213554;AN_nfe_XX=21072;nhomalt_nfe_XX=0;AC_nfe_XY=22;AF_nfe_XY=0.00152102;AN_nfe_XY=14464;nhomalt_nfe_XY=0;AC_nfe=67;AF_nfe=0.00188541;AN_nfe=35536;nhomalt_nfe=0;AC_raw=327;AF_raw=0.00315235;AN_raw=103732;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=386;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=412;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=798;nhomalt_remaining=0;AC_sas_XX=2;AF_sas_XX=0.00485437;AN_sas_XX=412;nhomalt_sas_XX=0;AC_sas_XY=3;AF_sas_XY=0.00226244;AN_sas_XY=1326;nhomalt_sas_XY=0;AC_sas=5;AF_sas=0.00287687;AN_sas=1738;nhomalt_sas=0;AC_grpmax=5;AF_grpmax=0.00319693;AN_grpmax=1564;nhomalt_grpmax=0;faf95=0.00147367;faf95_afr=0.00109197;faf95_amr=0.000465900;faf95_eas=0.00125879;faf95_nfe=0.00152318;faf95_sas=0.00113261;faf99=0.00137541;faf99_afr=0.000917480;faf99_amr=0.000318180;faf99_eas=0.000817600;faf99_nfe=0.00139063;faf99_sas=0.000735300;fafmax_faf99_max=0.00139063;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=2|0|0|6|7|5|6|1|4|5;age_hist_het_n_smaller=1;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=146.420;MQ=30.6671;MQRankSum=-0.527000;QUALapprox=24014;QD=2.68854;ReadPosRankSum=0.00000;SOR=6.36400;VarDP=8932;AS_FS=141.314;AS_MQ=30.5850;AS_MQRankSum=-0.493000;AS_pab_max=1.00000;AS_QUALapprox=21818;AS_QD=2.66528;AS_ReadPosRankSum=0.00000;AS_SB_TABLE=2385,4517|1836,78;AS_SOR=6.29340;AS_VarDP=8186;inbreeding_coeff=-0.00316232;AS_culprit=AS_FS;AS_VQSLOD=-1.16660;negative_train_site;allele_type=snv;n_alt_alleles=5;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|7|10|5|12|9|12|12|9|2|6|8|6|2|5|1|5;gq_hist_all_bin_freq=0|0|0|0|19973|5679|3455|1557|598|352|174|64|42|29|11|10|4|9|1|6;dp_hist_alt_bin_freq=0|0|44|35|24|6|0|0|1|1|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9156|12371|6787|2831|718|78|17|4|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|30|32|18|11|10|5|5|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.240162;cadd_phred=3.58900;pangolin_largest_ds=0.0200000;phylop=0.259000;VRS_Allele_IDs=ga4gh:VA.bC7rmDaq2_1G7E2L-qEnut8DvIVzOy6w,ga4gh:VA.PPpsmnj_-emGg61jLwG1aAAuHY_qGsd9;VRS_Starts=5031148,5031148;VRS_Ends=5031149,5031149;VRS_States=A,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-904A>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-904A>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-904A>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-904A>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-904A>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-904A>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-904A>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-904A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-904A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031150	.	G	A	.	AS_VQSR	AC=1;AN=102122;AF=9.79221e-06;grpmax=nfe;AC_XX=1;AF_XX=1.84877e-05;AN_XX=54090;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=48032;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=13228;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=11198;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=24426;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=366;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=370;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=736;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4350;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5264;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9614;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1412;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1260;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2672;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1348;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1624;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2972;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1406;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4304;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=5710;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=100;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=106;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=206;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=3.28170e-05;AN_nfe_XX=30472;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=21130;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=1.93791e-05;AN_nfe=51602;nhomalt_nfe=0;AC_raw=2;AF_raw=1.44982e-05;AN_raw=137948;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=658;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=604;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1262;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=750;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2172;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2922;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=1.93791e-05;AN_grpmax=51602;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|1|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=96.4155;MQ=30.9427;MQRankSum=-0.322000;QUALapprox=2240;QD=2.64151;ReadPosRankSum=0.503000;SOR=6.47800;VarDP=848;AS_FS=14.2550;AS_MQ=30.1152;AS_MQRankSum=-0.572000;AS_pab_max=0.726563;AS_QUALapprox=349;AS_QD=4.41772;AS_ReadPosRankSum=0.480000;AS_SB_TABLE=300,391|15,0;AS_SOR=5.54748;AS_VarDP=79;inbreeding_coeff=-1.44984e-05;AS_culprit=AS_SOR;AS_VQSLOD=-20.0903;allele_type=snv;n_alt_alleles=3;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|28062|9841|7200|3248|1261|815|357|132|80|49|7|5|1|1|0|2;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|16537|19478|10068|3879|958|113|22|4|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0739350;cadd_phred=0.939000;phylop=-0.609000;VRS_Allele_IDs=ga4gh:VA.4QRSlCf3GKsUiSE7AhmFyk7hPwxRr_5Q,ga4gh:VA.y9Y_OjEtvx4GMPBX64_5oWM7plMgxbbz;VRS_Starts=5031149,5031149;VRS_Ends=5031150,5031150;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-903G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-903G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-903G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-903G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-903G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-903G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-903G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-903G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-903G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031150	rs2123012757	G	T	.	AS_VQSR	AC=5;AN=102172;AF=4.89371e-05;grpmax=afr;fafmax_faf95_max=6.43000e-06;fafmax_faf95_max_gen_anc=nfe;AC_XX=5;AF_XX=9.24454e-05;AN_XX=54086;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=48086;nhomalt_XY=0;nhomalt=0;AC_afr_XX=1;AF_afr_XX=7.55401e-05;AN_afr_XX=13238;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=11258;nhomalt_afr_XY=0;AC_afr=1;AF_afr=4.08230e-05;AN_afr=24496;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=366;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=370;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=736;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4362;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5272;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9634;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1412;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1260;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2672;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1344;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1626;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2970;nhomalt_eas=0;AC_fin_XX=2;AF_fin_XX=0.00142857;AN_fin_XX=1400;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4304;nhomalt_fin_XY=0;AC_fin=2;AF_fin=0.000350631;AN_fin=5704;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=88;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=102;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=190;nhomalt_mid=0;AC_nfe_XX=2;AF_nfe_XX=6.56642e-05;AN_nfe_XX=30458;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=21118;nhomalt_nfe_XY=0;AC_nfe=2;AF_nfe=3.87777e-05;AN_nfe=51576;nhomalt_nfe=0;AC_raw=25;AF_raw=0.000181125;AN_raw=138026;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=672;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=610;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1282;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=746;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2166;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2912;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=4.08230e-05;AN_grpmax=24496;nhomalt_grpmax=0;faf95=1.83000e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=6.43000e-06;faf95_sas=0.00000;faf99=1.23900e-05;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=2.41000e-06;faf99_sas=0.00000;fafmax_faf99_max=2.41000e-06;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=1;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=96.4155;MQ=30.9427;MQRankSum=-0.322000;QUALapprox=2240;QD=2.64151;ReadPosRankSum=0.503000;SOR=6.47800;VarDP=848;AS_FS=86.3016;AS_MQ=31.0628;AS_MQRankSum=-0.255000;AS_pab_max=1.00000;AS_QUALapprox=1863;AS_QD=2.44168;AS_ReadPosRankSum=0.671000;AS_SB_TABLE=300,391|136,5;AS_SOR=6.25757;AS_VarDP=763;inbreeding_coeff=-0.000181158;AS_culprit=AS_SOR;AS_VQSLOD=-4.24320;allele_type=snv;n_alt_alleles=3;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|1|0|0|1|0|0|0|1|0|0|0|0|2;gq_hist_all_bin_freq=0|0|0|0|28060|9838|7197|3248|1259|814|356|132|80|49|7|5|1|1|0|2;dp_hist_alt_bin_freq=0|0|3|1|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|16534|19473|10064|3879|958|113|22|4|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|2|0|1|0|0|1|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.122788;cadd_phred=0.744000;phylop=-0.609000;VRS_Allele_IDs=ga4gh:VA.4QRSlCf3GKsUiSE7AhmFyk7hPwxRr_5Q,ga4gh:VA.0lf8kjiqrPY8S4moXnay1bK0BqWSJtZ_;VRS_Starts=5031149,5031149;VRS_Ends=5031150,5031150;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-903G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-903G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-903G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-903G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-903G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-903G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-903G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-903G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-903G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031151	rs1987121734	A	G	.	PASS	AC=2;AN=103672;AF=1.92916e-05;grpmax=afr;AC_XX=1;AF_XX=1.82116e-05;AN_XX=54910;nhomalt_XX=0;AC_XY=1;AF_XY=2.05078e-05;AN_XY=48762;nhomalt_XY=0;nhomalt=0;AC_afr_XX=1;AF_afr_XX=7.37790e-05;AN_afr_XX=13554;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=11550;nhomalt_afr_XY=0;AC_afr=1;AF_afr=3.98343e-05;AN_afr=25104;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=374;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=374;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=748;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4310;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5210;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9520;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1450;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1280;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2730;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1494;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1758;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3252;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1524;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4360;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=5884;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=106;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=108;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=214;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=30672;nhomalt_nfe_XX=0;AC_nfe_XY=1;AF_nfe_XY=4.69616e-05;AN_nfe_XY=21294;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=1.92434e-05;AN_nfe=51966;nhomalt_nfe=0;AC_raw=12;AF_raw=8.64279e-05;AN_raw=138844;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=664;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=654;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1318;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=762;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2174;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2936;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=3.98343e-05;AN_grpmax=25104;nhomalt_grpmax=0;faf95=3.20000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=1.20000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|1|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=104.911;MQ=30.9471;MQRankSum=0.00000;QUALapprox=854;QD=2.59574;ReadPosRankSum=0.354000;SOR=3.68600;VarDP=329;AS_FS=60.6543;AS_MQ=30.9915;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=519;AS_QD=2.94886;AS_ReadPosRankSum=0.348000;AS_SB_TABLE=105,175|24,4;AS_SOR=3.23328;AS_VarDP=176;inbreeding_coeff=-8.64354e-05;AS_culprit=AS_FS;AS_VQSLOD=0.400600;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|1|1|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|29399|10233|6885|2965|1135|702|290|112|67|37|6|3|1|1|0|0;dp_hist_alt_bin_freq=0|0|1|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|16282|20076|10348|3989|988|124|22|5|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.276659;cadd_phred=4.01700;pangolin_largest_ds=0.0200000;phylop=-0.758000;VRS_Allele_IDs=ga4gh:VA.4UMUf1rmLEuNvPRIC-s5Jn8CCzkm_-tB,ga4gh:VA.dl1Y9WxGsqf8ch7v-tNehDNwBz12c3jb;VRS_Starts=5031150,5031150;VRS_Ends=5031151,5031151;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-902A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-902A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-902A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-902A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-902A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-902A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-902A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-902A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-902A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031151	.	A	T	.	AC0;AS_VQSR	AC=0;AN=103730;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=54906;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=48824;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=13556;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=11618;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=25174;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=374;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=374;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=748;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4316;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5218;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9534;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1450;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1280;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2730;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1490;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1760;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3250;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1524;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4360;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=5884;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=96;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=104;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=200;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=30664;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=21292;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=51956;nhomalt_nfe=0;AC_raw=7;AF_raw=5.03981e-05;AN_raw=138894;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=678;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=656;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1334;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=758;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2162;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2920;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=104.911;MQ=30.9471;MQRankSum=0.00000;QUALapprox=854;QD=2.59574;ReadPosRankSum=0.354000;SOR=3.68600;VarDP=329;AS_FS=76.4021;AS_MQ=30.8522;AS_MQRankSum=0.493000;AS_pab_max=0.375000;AS_QUALapprox=323;AS_QD=2.27465;AS_ReadPosRankSum=0.751000;AS_SB_TABLE=105,175|19,0;AS_SOR=5.99237;AS_VarDP=142;inbreeding_coeff=-5.04007e-05;AS_culprit=AS_SOR;AS_VQSLOD=-4.56250;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|29399|10232|6885|2965|1135|703|290|112|67|37|6|3|1|1|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|16282|20076|10348|3989|988|124|22|5|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.233506;cadd_phred=3.51100;phylop=-0.758000;VRS_Allele_IDs=ga4gh:VA.4UMUf1rmLEuNvPRIC-s5Jn8CCzkm_-tB,ga4gh:VA.6ItgGlIp-3hdpu9rklR2AGhqaLv6cf0x;VRS_Starts=5031150,5031150;VRS_Ends=5031151,5031151;VRS_States=A,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-902A>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-902A>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-902A>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-902A>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-902A>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-902A>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-902A>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-902A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-902A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031152	.	C	A	.	AS_VQSR	AC=1;AN=105438;AF=9.48425e-06;grpmax=nfe;AC_XX=1;AF_XX=1.79649e-05;AN_XX=55664;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=49774;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=13852;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=11900;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=25752;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=386;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=374;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=760;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4382;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5270;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9652;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1460;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1304;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2764;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1510;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1776;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3286;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1534;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4438;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=5972;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=94;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=100;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=194;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=3.22664e-05;AN_nfe_XX=30992;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=21724;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=1.89696e-05;AN_nfe=52716;nhomalt_nfe=0;AC_raw=10;AF_raw=7.18257e-05;AN_raw=139226;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=692;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=648;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1340;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=762;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2240;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3002;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=1.89696e-05;AN_grpmax=52716;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|1|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=9.64327e-16;MQ=30.5663;MQRankSum=-0.174000;QUALapprox=10209;QD=9.27248;ReadPosRankSum=0.198000;SOR=0.700000;VarDP=1101;AS_FS=37.7896;AS_MQ=29.4582;AS_MQRankSum=-0.237000;AS_pab_max=0.453125;AS_QUALapprox=538;AS_QD=1.72436;AS_ReadPosRankSum=0.709000;AS_SB_TABLE=293,378|42,0;AS_SOR=7.52273;AS_VarDP=312;inbreeding_coeff=-7.18308e-05;AS_culprit=AS_SOR;AS_VQSLOD=-29.4321;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|30677|10481|6672|2759|1045|596|257|85|51|31|8|3|2|1|1|11;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|16338|20606|10540|4042|1002|123|23|4|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0917850;cadd_phred=2.01900;phylop=-0.702000;VRS_Allele_IDs=ga4gh:VA.uTXUNG0Q2Yi6tjDu2xNGWLdQzZzRZNjC,ga4gh:VA.NqBs8bak_f5bb4iqwFbyeQhazQU_2TY4;VRS_Starts=5031151,5031151;VRS_Ends=5031152,5031152;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-901C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-901C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-901C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-901C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-901C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-901C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-901C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-901C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-901C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031152	rs1312258169	C	T	.	AS_VQSR	AC=14;AN=105440;AF=0.000132777;grpmax=nfe;fafmax_faf95_max=0.000116520;fafmax_faf95_max_gen_anc=nfe;AC_XX=9;AF_XX=0.000161679;AN_XX=55666;nhomalt_XX=0;AC_XY=5;AF_XY=0.000100454;AN_XY=49774;nhomalt_XY=0;nhomalt=0;AC_afr_XX=2;AF_afr_XX=0.000144383;AN_afr_XX=13852;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=11900;nhomalt_afr_XY=0;AC_afr=2;AF_afr=7.76639e-05;AN_afr=25752;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=386;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=374;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=760;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4382;nhomalt_amr_XX=0;AC_amr_XY=1;AF_amr_XY=0.000189753;AN_amr_XY=5270;nhomalt_amr_XY=0;AC_amr=1;AF_amr=0.000103605;AN_amr=9652;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1460;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1304;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2764;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1510;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1776;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3286;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1534;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4438;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=5972;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=94;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=100;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=194;nhomalt_mid=0;AC_nfe_XX=7;AF_nfe_XX=0.000225850;AN_nfe_XX=30994;nhomalt_nfe_XX=0;AC_nfe_XY=4;AF_nfe_XY=0.000184128;AN_nfe_XY=21724;nhomalt_nfe_XY=0;AC_nfe=11;AF_nfe=0.000208657;AN_nfe=52718;nhomalt_nfe=0;AC_raw=18;AF_raw=0.000129286;AN_raw=139226;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=690;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=648;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1338;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=764;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2240;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3004;nhomalt_sas=0;AC_grpmax=11;AF_grpmax=0.000208657;AN_grpmax=52718;nhomalt_grpmax=0;faf95=7.98500e-05;faf95_afr=1.28500e-05;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.000116520;faf95_sas=0.00000;faf99=6.40600e-05;faf99_afr=4.80000e-06;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=9.03800e-05;faf99_sas=0.00000;fafmax_faf99_max=9.03800e-05;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=1|0|0|1|1|0|1|1|1|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=9.64327e-16;MQ=30.5663;MQRankSum=-0.174000;QUALapprox=10209;QD=9.27248;ReadPosRankSum=0.198000;SOR=0.700000;VarDP=1101;AS_FS=3.42647;AS_MQ=31.0167;AS_MQRankSum=-0.140000;AS_pab_max=1.00000;AS_QUALapprox=9647;AS_QD=12.4961;AS_ReadPosRankSum=-0.0570000;AS_SB_TABLE=293,378|143,243;AS_SOR=1.00346;AS_VarDP=772;inbreeding_coeff=0.110996;AS_culprit=AS_MQ;AS_VQSLOD=-3.33400;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|1|0|1|11;gq_hist_all_bin_freq=0|0|0|0|30677|10483|6672|2759|1045|596|257|85|51|31|8|3|2|1|1|11;dp_hist_alt_bin_freq=0|0|9|3|1|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|16338|20607|10541|4042|1002|123|23|4|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|1|2|1|4|0|4|1|1|0|0|0|0|0|0|0;cadd_raw_score=0.151309;cadd_phred=2.58900;phylop=-0.702000;VRS_Allele_IDs=ga4gh:VA.uTXUNG0Q2Yi6tjDu2xNGWLdQzZzRZNjC,ga4gh:VA.7bjatSYWj9VFp9m-Xe87NcCpIz1LEVrO;VRS_Starts=5031151,5031151;VRS_Ends=5031152,5031152;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-901C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-901C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-901C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-901C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-901C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-901C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-901C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-901C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-901C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031153	rs1464350305	G	A	.	AS_VQSR	AC=2;AN=118342;AF=1.69002e-05;grpmax=amr;AC_XX=1;AF_XX=1.61739e-05;AN_XX=61828;nhomalt_XX=0;AC_XY=1;AF_XY=1.76947e-05;AN_XY=56514;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16386;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14008;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30394;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=408;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=394;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=802;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5020;nhomalt_amr_XX=0;AC_amr_XY=1;AF_amr_XY=0.000159693;AN_amr_XY=6262;nhomalt_amr_XY=0;AC_amr=1;AF_amr=8.86368e-05;AN_amr=11282;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1564;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1384;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2948;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1748;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2050;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3798;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1854;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5528;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7382;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=106;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=118;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=224;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=33122;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23492;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=56614;nhomalt_nfe=0;AC_raw=8;AF_raw=5.43574e-05;AN_raw=147174;nhomalt_raw=1;AC_remaining_XX=1;AF_remaining_XX=0.00130890;AN_remaining_XX=764;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=738;nhomalt_remaining_XY=0;AC_remaining=1;AF_remaining=0.000665779;AN_remaining=1502;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=856;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2540;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3396;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=8.86368e-05;AN_grpmax=11282;nhomalt_grpmax=0;faf95=2.81000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=1.05000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=5.80493;MQ=29.8064;MQRankSum=-0.143000;QUALapprox=1920;QD=11.5663;ReadPosRankSum=0.731000;SOR=0.384000;VarDP=166;AS_FS=4.81056;AS_MQ=30.1912;AS_MQRankSum=-0.265000;AS_pab_max=1.00000;AS_QUALapprox=1884;AS_QD=12.9931;AS_ReadPosRankSum=0.836000;AS_SB_TABLE=30,59|31,43;AS_SOR=0.408588;AS_VarDP=145;inbreeding_coeff=0.249959;AS_culprit=AS_MQ;AS_VQSLOD=-3.61880;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|2;gq_hist_all_bin_freq=0|0|0|0|33126|11883|8023|3436|1275|791|342|112|77|38|8|5|1|1|0|3;dp_hist_alt_bin_freq=0|0|1|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|19477|22955|11266|4225|1040|127|24|5|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|2|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.119684;cadd_phred=2.27300;phylop=0.322000;VRS_Allele_IDs=ga4gh:VA.7gUMR38oMDYCOF_0hpHNJh0HNni8F6_K,ga4gh:VA.WT9cGp1uadCCP_EWvhYisSbkLZIpaBzX;VRS_Starts=5031152,5031152;VRS_Ends=5031153,5031153;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-900G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-900G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-900G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-900G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-900G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-900G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-900G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-900G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-900G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031155	.	A	G	.	AC0	AC=0;AN=116424;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=60888;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=55536;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16012;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=13630;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=29642;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=406;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=394;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=800;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4950;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6074;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11024;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1540;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1380;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2920;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1700;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2040;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3740;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1834;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5398;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7232;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=120;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=120;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=240;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=32736;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23320;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=56056;nhomalt_nfe=0;AC_raw=5;AF_raw=3.43671e-05;AN_raw=145488;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=758;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=724;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1482;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=832;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2456;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3288;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=21.6716;MQ=32.5135;MQRankSum=-0.522000;QUALapprox=419;QD=1.77542;ReadPosRankSum=0.287000;SOR=1.51700;VarDP=236;AS_FS=45.7969;AS_MQ=31.5759;AS_MQRankSum=-0.522000;AS_pab_max=1.00000;AS_QUALapprox=345;AS_QD=2.02941;AS_ReadPosRankSum=0.287000;AS_SB_TABLE=85,114|23,4;AS_SOR=3.16121;AS_VarDP=170;inbreeding_coeff=-3.43683e-05;AS_culprit=AS_SOR;AS_VQSLOD=-0.291400;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|33329|11590|7556|3241|1213|744|308|110|72|34|8|4|1|1|0|1;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18451|23064|11270|4227|1042|127|24|5|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.266241;cadd_phred=3.89500;phylop=0.259000;VRS_Allele_IDs=ga4gh:VA.viyCSJwk6geg9eoDSAKeAm7InnkycTPh,ga4gh:VA.3Lo5o3Iowrba2AswbZjgv05oEPo24Fxj;VRS_Starts=5031154,5031154;VRS_Ends=5031155,5031155;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-898A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-898A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-898A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-898A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-898A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-898A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-898A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-898A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-898A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031156	rs1987122012	A	G	.	AC0	AC=0;AN=119904;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=62580;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=57324;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16708;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14150;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30858;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=416;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=392;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=808;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5134;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6380;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11514;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1554;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1386;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2940;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1736;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2062;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3798;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1940;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5682;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7622;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=122;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=126;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=248;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=33340;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23810;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=57150;nhomalt_nfe=0;AC_raw=1;AF_raw=6.81422e-06;AN_raw=146752;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=758;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=770;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1528;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=872;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2566;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3438;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=16.0515;MQ=32.0016;MQRankSum=0.348000;QUALapprox=688;QD=3.69892;ReadPosRankSum=0.736000;SOR=1.90400;VarDP=186;AS_FS=1.27342;AS_MQ=36.4036;AS_MQRankSum=0.791000;AS_pab_max=1.00000;AS_QUALapprox=154;AS_QD=3.27660;AS_ReadPosRankSum=1.23100;AS_SB_TABLE=76,74|4,5;AS_SOR=0.870760;AS_VarDP=47;inbreeding_coeff=-6.81426e-06;AS_culprit=AS_QD;AS_VQSLOD=-1.89080;allele_type=snv;n_alt_alleles=4;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|34011|11931|7934|3375|1302|799|331|123|91|38|9|3|1|2|1|1;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|19228|23734|11512|4267|1050|129|25|5|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.261889;cadd_phred=3.84400;phylop=-0.645000;VRS_Allele_IDs=ga4gh:VA.XIvtOBMA0w-7IdjebHQcEYW46kGbSp4x,ga4gh:VA.tJ0mcNvrFhMNesTWZLxJm4MP9RrNplNu;VRS_Starts=5031155,5031155;VRS_Ends=5031156,5031156;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-897A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-897A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-897A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-897A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-897A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-897A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-897A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-897A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-897A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031156	.	A	T	.	AC0;AS_VQSR	AC=0;AN=119904;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=62580;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=57324;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16708;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14150;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30858;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=416;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=392;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=808;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5134;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6380;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11514;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1554;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1386;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2940;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1736;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2062;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3798;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1940;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5682;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7622;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=122;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=126;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=248;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=33340;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23810;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=57150;nhomalt_nfe=0;AC_raw=2;AF_raw=1.36284e-05;AN_raw=146752;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=758;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=770;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1528;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=872;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2566;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3438;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=16.0515;MQ=32.0016;MQRankSum=0.348000;QUALapprox=688;QD=3.69892;ReadPosRankSum=0.736000;SOR=1.90400;VarDP=186;AS_FS=37.3338;AS_MQ=30.3982;AS_MQRankSum=-0.572000;AS_pab_max=1.00000;AS_QUALapprox=488;AS_QD=4.20690;AS_ReadPosRankSum=0.736000;AS_SB_TABLE=76,74|21,2;AS_SOR=3.95164;AS_VarDP=116;inbreeding_coeff=-1.36286e-05;AS_culprit=AS_SOR;AS_VQSLOD=-3.58010;allele_type=snv;n_alt_alleles=4;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|34011|11931|7934|3375|1302|799|331|123|91|38|9|3|1|2|1|1;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|19228|23734|11512|4267|1050|129|25|5|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.218735;cadd_phred=3.33900;phylop=-0.645000;VRS_Allele_IDs=ga4gh:VA.XIvtOBMA0w-7IdjebHQcEYW46kGbSp4x,ga4gh:VA.G1SY6zvj58fEbsXFJVIA4WYM6RBVE80P;VRS_Starts=5031155,5031155;VRS_Ends=5031156,5031156;VRS_States=A,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-897A>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-897A>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-897A>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-897A>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-897A>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-897A>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-897A>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-897A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-897A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031160	rs2123012820	C	A	.	AS_VQSR	AC=12;AN=103484;AF=0.000115960;grpmax=sas;fafmax_faf95_max=5.11100e-05;fafmax_faf95_max_gen_anc=nfe;AC_XX=4;AF_XX=7.34187e-05;AN_XX=54482;nhomalt_XX=0;AC_XY=8;AF_XY=0.000163259;AN_XY=49002;nhomalt_XY=0;nhomalt=0;AC_afr_XX=1;AF_afr_XX=7.09119e-05;AN_afr_XX=14102;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=12060;nhomalt_afr_XY=0;AC_afr=1;AF_afr=3.82234e-05;AN_afr=26162;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=350;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=362;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=712;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4188;nhomalt_amr_XX=0;AC_amr_XY=1;AF_amr_XY=0.000197785;AN_amr_XY=5056;nhomalt_amr_XY=0;AC_amr=1;AF_amr=0.000108178;AN_amr=9244;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1418;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1254;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2672;nhomalt_asj=0;AC_eas_XX=1;AF_eas_XX=0.000739645;AN_eas_XX=1352;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1638;nhomalt_eas_XY=0;AC_eas=1;AF_eas=0.000334448;AN_eas=2990;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1678;nhomalt_fin_XX=0;AC_fin_XY=2;AF_fin_XY=0.000429185;AN_fin_XY=4660;nhomalt_fin_XY=0;AC_fin=2;AF_fin=0.000315557;AN_fin=6338;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=96;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=106;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=202;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=3.34046e-05;AN_nfe_XX=29936;nhomalt_nfe_XX=0;AC_nfe_XY=5;AF_nfe_XY=0.000236832;AN_nfe_XY=21112;nhomalt_nfe_XY=0;AC_nfe=6;AF_nfe=0.000117536;AN_nfe=51048;nhomalt_nfe=0;AC_raw=29;AF_raw=0.000214025;AN_raw=135498;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=660;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=670;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1330;nhomalt_remaining=0;AC_sas_XX=1;AF_sas_XX=0.00142450;AN_sas_XX=702;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2084;nhomalt_sas_XY=0;AC_sas=1;AF_sas=0.000358938;AN_sas=2786;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000358938;AN_grpmax=2786;nhomalt_grpmax=0;faf95=6.66800e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=5.11100e-05;faf95_sas=0.00000;faf99=5.16700e-05;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=3.46200e-05;faf99_sas=0.00000;fafmax_faf99_max=3.46200e-05;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|1|1|0|1|0|1|1|2|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=97.7014;MQ=30.9474;MQRankSum=-0.348000;QUALapprox=4125;QD=2.61076;ReadPosRankSum=0.810000;SOR=9.83300;VarDP=1580;AS_FS=75.6330;AS_MQ=31.3831;AS_MQRankSum=-0.474000;AS_pab_max=0.753906;AS_QUALapprox=2706;AS_QD=2.43127;AS_ReadPosRankSum=1.00400;AS_SB_TABLE=606,701|199,0;AS_SOR=10.5967;AS_VarDP=1113;inbreeding_coeff=-0.000214071;AS_culprit=AS_SOR;AS_VQSLOD=-51.1469;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|1|0|0|0|2|2|1|1|0|0|2|0|0|2|0|1;gq_hist_all_bin_freq=0|0|0|0|31916|9913|5850|2303|900|479|185|65|42|22|7|2|1|4|0|3;dp_hist_alt_bin_freq=0|0|3|1|6|2|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|15047|21029|10495|4000|978|112|24|5|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|7|4|1|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.152340;cadd_phred=0.645000;phylop=-1.62500;VRS_Allele_IDs=ga4gh:VA.838-dLxsntKiKlFoF5Kes5bzjWFo8dh3,ga4gh:VA.IBg9zrlgpAEe7zL8i13uRiP43reCD28i;VRS_Starts=5031159,5031159;VRS_Ends=5031160,5031160;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-893C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-893C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-893C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-893C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-893C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-893C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-893C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-893C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-893C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031160	.	C	T	.	AS_VQSR	AC=3;AN=103392;AF=2.90158e-05;grpmax=amr;fafmax_faf95_max=3.76700e-05;fafmax_faf95_max_gen_anc=amr;AC_XX=2;AF_XX=3.67107e-05;AN_XX=54480;nhomalt_XX=0;AC_XY=1;AF_XY=2.04449e-05;AN_XY=48912;nhomalt_XY=0;nhomalt=0;AC_afr_XX=1;AF_afr_XX=7.09824e-05;AN_afr_XX=14088;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=11986;nhomalt_afr_XY=0;AC_afr=1;AF_afr=3.83524e-05;AN_afr=26074;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=350;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=362;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=712;nhomalt_ami=0;AC_amr_XX=1;AF_amr_XX=0.000238892;AN_amr_XX=4186;nhomalt_amr_XX=0;AC_amr_XY=1;AF_amr_XY=0.000198098;AN_amr_XY=5048;nhomalt_amr_XY=0;AC_amr=2;AF_amr=0.000216591;AN_amr=9234;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1418;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1254;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2672;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1358;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1638;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2996;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1680;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4660;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6340;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=104;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=108;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=212;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=29942;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=21114;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=51056;nhomalt_nfe=0;AC_raw=15;AF_raw=0.000110776;AN_raw=135408;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=648;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=668;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1316;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=706;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2074;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2780;nhomalt_sas=0;AC_grpmax=2;AF_grpmax=0.000216591;AN_grpmax=9234;nhomalt_grpmax=0;faf95=7.71000e-06;faf95_afr=0.00000;faf95_amr=3.76700e-05;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=4.14000e-06;faf99_afr=0.00000;faf99_amr=1.53100e-05;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=1.53100e-05;fafmax_faf99_max_gen_anc=amr;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|1|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=97.7014;MQ=30.9474;MQRankSum=-0.348000;QUALapprox=4125;QD=2.61076;ReadPosRankSum=0.810000;SOR=9.83300;VarDP=1580;AS_FS=32.0701;AS_MQ=29.8320;AS_MQRankSum=0.158000;AS_pab_max=0.687500;AS_QUALapprox=1379;AS_QD=3.06444;AS_ReadPosRankSum=0.747000;AS_SB_TABLE=606,701|70,1;AS_SOR=7.13966;AS_VarDP=450;inbreeding_coeff=-0.000110789;AS_culprit=AS_SOR;AS_VQSLOD=-28.1174;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|1|0|1;gq_hist_all_bin_freq=0|0|0|0|31916|9917|5849|2303|899|480|185|65|43|22|7|2|1|4|0|3;dp_hist_alt_bin_freq=0|0|1|2|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|15045|21031|10498|4000|978|113|24|5|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|3|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0928150;cadd_phred=0.858000;phylop=-1.62500;VRS_Allele_IDs=ga4gh:VA.838-dLxsntKiKlFoF5Kes5bzjWFo8dh3,ga4gh:VA.22faYHtMlzj0aSlH-NktB5dLVgXPjdmN;VRS_Starts=5031159,5031159;VRS_Ends=5031160,5031160;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-893C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-893C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-893C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-893C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-893C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-893C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-893C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-893C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-893C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031161	rs1987122095	A	C	.	AS_VQSR	AC=3;AN=109232;AF=2.74645e-05;grpmax=amr;fafmax_faf95_max=1.20700e-05;fafmax_faf95_max_gen_anc=afr;AC_XX=1;AF_XX=1.73569e-05;AN_XX=57614;nhomalt_XX=0;AC_XY=2;AF_XY=3.87462e-05;AN_XY=51618;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=14760;nhomalt_afr_XX=0;AC_afr_XY=2;AF_afr_XY=0.000157853;AN_afr_XY=12670;nhomalt_afr_XY=0;AC_afr=2;AF_afr=7.29129e-05;AN_afr=27430;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=364;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=368;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=732;nhomalt_ami=0;AC_amr_XX=1;AF_amr_XX=0.000224417;AN_amr_XX=4456;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5264;nhomalt_amr_XY=0;AC_amr=1;AF_amr=0.000102881;AN_amr=9720;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1540;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1328;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2868;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1686;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1920;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3606;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1820;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4718;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6538;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=110;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=126;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=236;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=31338;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=22126;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=53464;nhomalt_nfe=0;AC_raw=18;AF_raw=0.000129335;AN_raw=139174;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=698;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=696;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1394;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=842;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2402;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3244;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000102881;AN_grpmax=9720;nhomalt_grpmax=0;faf95=7.30000e-06;faf95_afr=1.20700e-05;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=3.02000e-06;faf99_afr=4.51000e-06;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=4.51000e-06;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=0|0|1|0|0|0|0|1|0|0;age_hist_het_n_smaller=1;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=4.82164e-16;MQ=30.5810;MQRankSum=-0.551000;QUALapprox=1231;QD=2.53292;ReadPosRankSum=0.189000;SOR=0.722000;VarDP=486;AS_FS=3.61627;AS_MQ=30.1803;AS_MQRankSum=-0.659000;AS_pab_max=1.00000;AS_QUALapprox=1018;AS_QD=2.58376;AS_ReadPosRankSum=0.480000;AS_SB_TABLE=193,205|40,32;AS_SOR=0.888100;AS_VarDP=394;inbreeding_coeff=-0.000129351;AS_culprit=AS_QD;AS_VQSLOD=-2.63340;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|1|1|0|0|0|0|1|0|0|0;gq_hist_all_bin_freq=0|0|0|0|32869|10186|6270|2718|1062|756|363|133|118|72|18|28|13|4|2|4;dp_hist_alt_bin_freq=0|0|2|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|15304|22468|11341|4283|1057|131|25|5|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|1|0|1|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0222020;cadd_phred=1.48100;pangolin_largest_ds=0.00000;phylop=-4.90800;VRS_Allele_IDs=ga4gh:VA.zFaXolUQtHWJWuUvXs72ZdQaNbdV1XYV,ga4gh:VA.mKtYsvQc80IgPq7SeNWHANVeqbp_tcw_;VRS_Starts=5031160,5031160;VRS_Ends=5031161,5031161;VRS_States=A,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-892A>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-892A>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-892A>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-892A>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-892A>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-892A>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-892A>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-892A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-892A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031162	rs2123012837	C	A	.	PASS	AC=1;AN=123514;AF=8.09625e-06;grpmax=nfe;AC_XX=0;AF_XX=0.00000;AN_XX=64400;nhomalt_XX=0;AC_XY=1;AF_XY=1.69165e-05;AN_XY=59114;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=17554;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=15094;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=32648;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=422;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=400;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=822;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5282;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6516;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11798;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1626;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1416;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=3042;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1672;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2014;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3686;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1896;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5958;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7854;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=114;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=124;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=238;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=34184;nhomalt_nfe_XX=0;AC_nfe_XY=1;AF_nfe_XY=4.13189e-05;AN_nfe_XY=24202;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=1.71274e-05;AN_nfe=58386;nhomalt_nfe=0;AC_raw=7;AF_raw=4.78011e-05;AN_raw=146440;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=824;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=798;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1622;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=826;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2592;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3418;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=1.71274e-05;AN_grpmax=58386;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=94.7627;MQ=31.4042;MQRankSum=0.00000;QUALapprox=656;QD=2.41176;ReadPosRankSum=0.967000;SOR=5.23400;VarDP=272;AS_FS=94.7627;AS_MQ=31.4042;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=656;AS_QD=2.41176;AS_ReadPosRankSum=0.967000;AS_SB_TABLE=106,124|40,2;AS_SOR=5.23383;AS_VarDP=272;inbreeding_coeff=-4.78034e-05;AS_culprit=AS_FS;AS_VQSLOD=0.779700;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|35436|11490|7914|3589|1367|1031|475|168|124|66|17|12|3|3|0|2;dp_hist_alt_bin_freq=0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18741|25077|12213|4429|1080|125|24|5|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0708900;cadd_phred=1.84300;pangolin_largest_ds=0.0100000;phylop=0.319000;VRS_Allele_IDs=ga4gh:VA.ddLrrxW7VMaKIxZj7yfzDREHBathiNMs,ga4gh:VA.VImB_pzWCyqZb7QjUUSXuQKvbyAE57cK;VRS_Starts=5031161,5031161;VRS_Ends=5031162,5031162;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-891C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-891C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-891C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-891C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-891C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-891C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-891C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-891C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-891C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031163	.	T	A	.	AC0;AS_VQSR	AC=0;AN=126148;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=65438;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=60710;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=18088;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=15510;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=33598;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=414;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=404;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=818;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5396;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6728;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=12124;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1638;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1428;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=3066;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1748;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2116;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3864;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1994;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6356;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8350;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=120;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=128;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=248;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=34346;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=24552;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=58898;nhomalt_nfe=0;AC_raw=4;AF_raw=2.69505e-05;AN_raw=148420;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=832;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=812;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1644;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=862;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2676;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3538;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=15.7823;MQ=32.8254;MQRankSum=-0.731000;QUALapprox=183;QD=2.34615;ReadPosRankSum=0.731000;SOR=3.04000;VarDP=78;AS_FS=16.5250;AS_MQ=31.6093;AS_MQRankSum=-0.731000;AS_pab_max=0.375000;AS_QUALapprox=161;AS_QD=2.36765;AS_ReadPosRankSum=0.744000;AS_SB_TABLE=38,28|9,0;AS_SOR=4.03056;AS_VarDP=68;inbreeding_coeff=-2.69513e-05;AS_culprit=AS_SOR;AS_VQSLOD=-8.26900;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|35869|11667|8185|3786|1470|1097|516|178|134|75|20|12|3|3|0|2;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|19148|25631|12477|4500|1101|127|25|5|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.221015;cadd_phred=3.36600;phylop=0.255000;VRS_Allele_IDs=ga4gh:VA.sfJ5SUFQRyBaNorCVVZ5QFeSz50f1czf,ga4gh:VA.FEGNcaeXFB6rlS6UFPQ5RdyDqCxPyPat;VRS_Starts=5031162,5031162;VRS_Ends=5031163,5031163;VRS_States=T,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-890T>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-890T>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-890T>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-890T>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-890T>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-890T>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-890T>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-890T>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-890T>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031164	rs1379086335	C	A	.	AS_VQSR	AC=2;AN=120538;AF=1.65923e-05;grpmax=afr;AC_XX=2;AF_XX=3.18137e-05;AN_XX=62866;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=57672;nhomalt_XY=0;nhomalt=0;AC_afr_XX=1;AF_afr_XX=5.88928e-05;AN_afr_XX=16980;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14662;nhomalt_afr_XY=0;AC_afr=1;AF_afr=3.16036e-05;AN_afr=31642;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=416;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=398;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=814;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5140;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6264;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11404;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1614;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1384;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2998;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1624;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2034;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3658;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1878;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5764;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7642;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=116;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=120;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=236;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=2.98561e-05;AN_nfe_XX=33494;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23736;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=1.74734e-05;AN_nfe=57230;nhomalt_nfe=0;AC_raw=6;AF_raw=4.14113e-05;AN_raw=144888;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=796;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=786;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1582;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=808;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2524;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3332;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=3.16036e-05;AN_grpmax=31642;nhomalt_grpmax=0;faf95=2.76000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=1.03000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|1|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=38.9868;MQ=30.2815;MQRankSum=-0.423000;QUALapprox=810;QD=4.09091;ReadPosRankSum=0.751000;SOR=2.93400;VarDP=198;AS_FS=62.7668;AS_MQ=30.5009;AS_MQRankSum=-0.492000;AS_pab_max=0.218750;AS_QUALapprox=265;AS_QD=1.77852;AS_ReadPosRankSum=1.26300;AS_SB_TABLE=76,77|23,0;AS_SOR=6.35780;AS_VarDP=149;inbreeding_coeff=-4.14130e-05;AS_culprit=AS_SOR;AS_VQSLOD=-9.13710;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|1|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|35260|11121|7433|3329|1299|956|441|158|120|68|14|11|3|2|0|2;dp_hist_alt_bin_freq=0|0|1|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|17514|24778|12227|4456|1082|125|26|6|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|2|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0846930;cadd_phred=1.95800;phylop=-1.72700;VRS_Allele_IDs=ga4gh:VA.lCVzebrq3JtnURtmQjGqlmK7DAq-St29,ga4gh:VA.uUY6msRToVmKzEyfwTRLqh56JrHB593P;VRS_Starts=5031163,5031163;VRS_Ends=5031164,5031164;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-889C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-889C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-889C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-889C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-889C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-889C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-889C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-889C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-889C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031164	rs1379086335	C	T	.	AS_VQSR	AC=1;AN=120436;AF=8.30317e-06;grpmax=eas;AC_XX=1;AF_XX=1.59079e-05;AN_XX=62862;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=57574;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16966;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14578;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=31544;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=416;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=398;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=814;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5136;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6256;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11392;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1614;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1384;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2998;nhomalt_asj=0;AC_eas_XX=1;AF_eas_XX=0.000613497;AN_eas_XX=1630;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2034;nhomalt_eas_XY=0;AC_eas=1;AF_eas=0.000272926;AN_eas=3664;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1878;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5764;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7642;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=124;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=120;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=244;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=33500;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23740;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=57240;nhomalt_nfe=0;AC_raw=2;AF_raw=1.38137e-05;AN_raw=144784;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=782;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=782;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1564;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=816;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2518;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3334;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000272926;AN_grpmax=3664;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|1|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=38.9868;MQ=30.2815;MQRankSum=-0.423000;QUALapprox=810;QD=4.09091;ReadPosRankSum=0.751000;SOR=2.93400;VarDP=198;AS_FS=5.87042;AS_MQ=29.6182;AS_MQRankSum=0.296000;AS_pab_max=0.343750;AS_QUALapprox=545;AS_QD=11.1224;AS_ReadPosRankSum=0.572000;AS_SB_TABLE=76,77|14,8;AS_SOR=1.32237;AS_VarDP=49;inbreeding_coeff=-1.38139e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.07850;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|35260|11121|7433|3330|1299|956|441|158|120|68|14|11|3|2|0|2;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|17514|24779|12227|4456|1082|125|26|6|3|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0;cadd_raw_score=0.144217;cadd_phred=2.51600;phylop=-1.72700;VRS_Allele_IDs=ga4gh:VA.lCVzebrq3JtnURtmQjGqlmK7DAq-St29,ga4gh:VA.7BaUd13kdeNCoo5PcFOx0n7ES1Trbvgs;VRS_Starts=5031163,5031163;VRS_Ends=5031164,5031164;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-889C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-889C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-889C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-889C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-889C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-889C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-889C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-889C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-889C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031167	rs1176541376	G	T	.	PASS	AC=8;AN=86406;AF=9.25862e-05;grpmax=amr;fafmax_faf95_max=4.85300e-05;fafmax_faf95_max_gen_anc=amr;AC_XX=5;AF_XX=0.000109842;AN_XX=45520;nhomalt_XX=0;AC_XY=3;AF_XY=7.33747e-05;AN_XY=40886;nhomalt_XY=0;nhomalt=0;AC_afr_XX=3;AF_afr_XX=0.000265769;AN_afr_XX=11288;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=9828;nhomalt_afr_XY=0;AC_afr=3;AF_afr=0.000142072;AN_afr=21116;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=308;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=298;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=606;nhomalt_ami=0;AC_amr_XX=1;AF_amr_XX=0.000295508;AN_amr_XX=3384;nhomalt_amr_XX=0;AC_amr_XY=1;AF_amr_XY=0.000260552;AN_amr_XY=3838;nhomalt_amr_XY=0;AC_amr=2;AF_amr=0.000276932;AN_amr=7222;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1214;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1000;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2214;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1176;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1482;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2658;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1562;nhomalt_fin_XX=0;AC_fin_XY=2;AF_fin_XY=0.000511247;AN_fin_XY=3912;nhomalt_fin_XY=0;AC_fin=2;AF_fin=0.000365364;AN_fin=5474;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=74;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=68;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=142;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=3.94882e-05;AN_nfe_XX=25324;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18082;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=2.30383e-05;AN_nfe=43406;nhomalt_nfe=0;AC_raw=64;AF_raw=0.000536040;AN_raw=119394;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=514;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=534;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1048;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=676;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1844;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2520;nhomalt_sas=0;AC_grpmax=2;AF_grpmax=0.000276932;AN_grpmax=7222;nhomalt_grpmax=0;faf95=4.57200e-05;faf95_afr=3.85900e-05;faf95_amr=4.85300e-05;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=3.26700e-05;faf99_afr=2.04100e-05;faf99_amr=1.99800e-05;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=2.04100e-05;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=1|0|0|0|1|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=91.6402;MQ=30.5469;MQRankSum=-0.365000;QUALapprox=5406;QD=2.61919;ReadPosRankSum=0.731000;SOR=5.95400;VarDP=2064;AS_FS=92.2290;AS_MQ=30.5334;AS_MQRankSum=-0.537000;AS_pab_max=1.00000;AS_QUALapprox=5396;AS_QD=2.63091;AS_ReadPosRankSum=0.731000;AS_SB_TABLE=746,949|351,16;AS_SOR=6.06228;AS_VarDP=2051;inbreeding_coeff=-0.000536328;AS_culprit=AS_SOR;AS_VQSLOD=-2.30320;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|1|0|1|1|1|1|0|0|1|0|0|0|0|0|0|2;gq_hist_all_bin_freq=0|0|0|0|30232|7311|3695|1223|384|195|58|21|14|8|3|3|3|0|1|2;dp_hist_alt_bin_freq=0|0|4|2|2|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10580|18690|9317|3562|881|96|22|4|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|3|4|0|1|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0820580;cadd_phred=1.93500;pangolin_largest_ds=0.0200000;phylop=-0.718000;VRS_Allele_IDs=ga4gh:VA.pMEkV9eEMiTftyhBVU3g5VrJMVfYwBOQ,ga4gh:VA.OAKxUPLF9mkvWBZPqT7AKBAGc-bbjKLc;VRS_Starts=5031166,5031166;VRS_Ends=5031167,5031167;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-886G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-886G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-886G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-886G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-886G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-886G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-886G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-886G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-886G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031170	rs1427506195	G	T	.	AC0;AS_VQSR	AC=0;AN=101970;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=53364;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=48606;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=13686;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=11942;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=25628;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=350;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=322;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=672;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4090;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4746;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8836;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1376;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1190;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2566;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1440;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1752;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3192;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1792;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4754;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6546;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=88;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=80;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=168;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=29134;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=20934;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=50068;nhomalt_nfe=0;AC_raw=19;AF_raw=0.000145147;AN_raw=130902;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=634;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=666;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1300;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=774;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2220;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2994;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=87.9200;MQ=30.6533;MQRankSum=-0.185000;QUALapprox=1475;QD=2.62456;ReadPosRankSum=0.747000;SOR=6.71200;VarDP=562;AS_FS=87.9200;AS_MQ=30.6533;AS_MQRankSum=-0.185000;AS_pab_max=1.00000;AS_QUALapprox=1475;AS_QD=2.62456;AS_ReadPosRankSum=0.747000;AS_SB_TABLE=220,255|85,2;AS_SOR=6.71238;AS_VarDP=562;inbreeding_coeff=-0.000145168;AS_culprit=AS_SOR;AS_VQSLOD=-6.27780;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|35166|8709|4484|1562|561|297|97|36|13|7|4|2|1|0|0|1;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|12331|22319|11021|4111|1024|110|19|4|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0878620;cadd_phred=1.98500;phylop=0.322000;VRS_Allele_IDs=ga4gh:VA.7Kp7u5ci-ISr3X-5Y91709mChrZ1HNRd,ga4gh:VA.ln4RFTk7Jn-gUu-B7UO8FjD07V-d0T5g;VRS_Starts=5031169,5031169;VRS_Ends=5031170,5031170;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-883G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-883G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-883G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-883G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-883G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-883G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-883G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-883G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-883G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031174	.	A	C	.	AC0;AS_VQSR	AC=0;AN=122744;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=64034;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=58710;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=17292;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14950;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=32242;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=416;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=400;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=816;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5066;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6000;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11066;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1592;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1404;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2996;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1782;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2188;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3970;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2108;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5922;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8030;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=120;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=122;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=242;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=33952;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=24202;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=58154;nhomalt_nfe=0;AC_raw=4;AF_raw=2.77535e-05;AN_raw=144126;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=782;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=800;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1582;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=924;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2722;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3646;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=27.0448;MQ=28.9938;MQRankSum=-0.0990000;QUALapprox=203;QD=1.86239;ReadPosRankSum=0.747000;SOR=4.63200;VarDP=109;AS_FS=21.2588;AS_MQ=29.3232;AS_MQRankSum=-0.598000;AS_pab_max=0.0385742;AS_QUALapprox=161;AS_QD=1.73118;AS_ReadPosRankSum=0.238000;AS_SB_TABLE=57,38|12,0;AS_SOR=4.34914;AS_VarDP=93;inbreeding_coeff=-2.77543e-05;AS_culprit=AS_SOR;AS_VQSLOD=-8.97720;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|41068|10787|5770|2251|797|447|146|58|23|11|8|1|2|1|0|2;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|15786|26930|12769|4602|1135|122|22|4|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.255191;cadd_phred=3.76500;phylop=-0.761000;VRS_Allele_IDs=ga4gh:VA.zgvMbdeMb9sLYsENv1WMatq1V9JTbSfn,ga4gh:VA.M3B-DfbF393viNGersUCGvCytsAJPD1f;VRS_Starts=5031173,5031173;VRS_Ends=5031174,5031174;VRS_States=A,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-879A>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-879A>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-879A>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-879A>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-879A>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-879A>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-879A>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-879A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-879A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031175	.	G	C	.	AC0	AC=0;AN=134346;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=69474;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=64872;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=19636;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=16848;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=36484;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=438;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=416;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=854;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5778;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=7172;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=12950;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1698;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1476;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=3174;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1974;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2370;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4344;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2236;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6956;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=9192;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=138;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=130;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=268;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=35704;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=25644;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=61348;nhomalt_nfe=0;AC_raw=1;AF_raw=6.65053e-06;AN_raw=150364;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=874;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=896;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1770;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=998;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2964;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3962;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=30.0078;MQRankSum=2.00300;QUALapprox=88;QD=2.75000;ReadPosRankSum=0.747000;SOR=0.776000;VarDP=32;AS_FS=4.82164e-16;AS_MQ=30.9455;AS_MQRankSum=2.07300;AS_pab_max=0.0654297;AS_QUALapprox=67;AS_QD=2.79167;AS_ReadPosRankSum=1.53200;AS_SB_TABLE=15,12|2,2;AS_SOR=0.506912;AS_VarDP=24;inbreeding_coeff=-6.65057e-06;AS_culprit=AS_QD;AS_VQSLOD=-2.32100;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|43415|11999|6879|2791|1015|653|244|93|46|18|9|5|3|1|0|2;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18408|29198|13506|4751|1159|123|22|4|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0955010;cadd_phred=2.05100;phylop=0.322000;VRS_Allele_IDs=ga4gh:VA.2rqFUFlEpKF3dTiJ-HJyh15qXhx535cB,ga4gh:VA.OzujWZl0EXNaxZ9ANGuGN0APkx4WTkeJ;VRS_Starts=5031174,5031174;VRS_Ends=5031175,5031175;VRS_States=G,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-878G>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-878G>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-878G>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-878G>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-878G>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-878G>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-878G>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-878G>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-878G>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031177	rs2123012903	C	G	.	AS_VQSR	AC=1;AN=133948;AF=7.46558e-06;grpmax=eas;AC_XX=1;AF_XX=1.44434e-05;AN_XX=69236;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=64712;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=19510;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=16878;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=36388;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=438;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=416;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=854;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5754;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=7116;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=12870;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1702;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1484;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=3186;nhomalt_asj=0;AC_eas_XX=1;AF_eas_XX=0.000518672;AN_eas_XX=1928;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2352;nhomalt_eas_XY=0;AC_eas=1;AF_eas=0.000233645;AN_eas=4280;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2210;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6834;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=9044;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=124;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=126;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=250;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=35702;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=25666;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=61368;nhomalt_nfe=0;AC_raw=2;AF_raw=1.33292e-05;AN_raw=150046;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=898;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=890;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1788;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=970;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2950;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3920;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000233645;AN_grpmax=4280;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.58395;MQ=33.1127;MQRankSum=0.259000;QUALapprox=197;QD=6.56667;ReadPosRankSum=0.537000;SOR=0.709000;VarDP=30;AS_FS=1.73737;AS_MQ=29.8905;AS_MQRankSum=0.259000;AS_pab_max=1.00000;AS_QUALapprox=184;AS_QD=10.2222;AS_ReadPosRankSum=0.736000;AS_SB_TABLE=9,12|4,3;AS_SOR=0.767427;AS_VarDP=18;inbreeding_coeff=-1.33294e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.07920;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|43503|12004|6762|2677|965|612|227|87|44|18|9|4|3|1|0|3;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18212|29171|13481|4749|1155|123|22|4|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.108973;cadd_phred=2.17200;phylop=0.325000;VRS_Allele_IDs=ga4gh:VA.SiBwni98hfQ6dP2yo35IK2SZlOJhZFCS,ga4gh:VA.UcAvfae_AqsIoEVDkuxJSW5PHY0yxnAF;VRS_Starts=5031176,5031176;VRS_Ends=5031177,5031177;VRS_States=C,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-876C>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-876C>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-876C>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-876C>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-876C>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-876C>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-876C>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-876C>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-876C>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031178	rs1421060648	T	G	.	AS_VQSR	AC=1;AN=135622;AF=7.37343e-06;grpmax=nfe;AC_XX=1;AF_XX=1.42865e-05;AN_XX=69996;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=65626;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=19864;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=17092;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=36956;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=438;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=414;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=852;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5854;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=7280;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=13134;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1706;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1486;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=3192;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1998;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2390;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4388;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2236;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=7120;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=9356;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=138;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=134;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=272;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=2.78816e-05;AN_nfe_XX=35866;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=25814;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=1.62127e-05;AN_nfe=61680;nhomalt_nfe=0;AC_raw=1;AF_raw=6.62919e-06;AN_raw=150848;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=892;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=900;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1792;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=1004;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2996;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=4000;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=1.62127e-05;AN_grpmax=61680;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=5.38379;MQ=28.7138;MQRankSum=1.66600;QUALapprox=309;QD=9.96774;ReadPosRankSum=0.0670000;SOR=0.690000;VarDP=31;AS_FS=5.61963;AS_MQ=27.0000;AS_MQRankSum=1.08800;AS_pab_max=0.831812;AS_QUALapprox=287;AS_QD=13.0455;AS_ReadPosRankSum=-0.626000;AS_SB_TABLE=6,11|7,5;AS_SOR=0.750498;AS_VarDP=22;inbreeding_coeff=-6.62923e-06;AS_culprit=AS_MQ;AS_VQSLOD=-4.88030;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|43833|12166|6935|2804|1011|643|243|88|48|19|9|5|3|1|0|3;dp_hist_alt_bin_freq=0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18692|29509|13547|4755|1155|124|23|4|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.257195;cadd_phred=3.78900;phylop=0.260000;VRS_Allele_IDs=ga4gh:VA.MNsdOQJdBRrjErE68BDG8EwvtAOA09J9,ga4gh:VA.zTEqBR3K2QDuI3yF7SGn80oNob28cwVy;VRS_Starts=5031177,5031177;VRS_Ends=5031178,5031178;VRS_States=T,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-875T>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-875T>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-875T>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-875T>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-875T>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-875T>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-875T>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-875T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-875T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031179	rs1195175991	G	A	.	AS_VQSR	AC=7;AN=133826;AF=5.23067e-05;grpmax=nfe;fafmax_faf95_max=5.34000e-05;fafmax_faf95_max_gen_anc=nfe;AC_XX=5;AF_XX=7.22502e-05;AN_XX=69204;nhomalt_XX=0;AC_XY=2;AF_XY=3.09492e-05;AN_XY=64622;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=19506;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=16770;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=36276;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=442;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=416;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=858;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5768;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=7126;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=12894;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1690;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1472;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=3162;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1960;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2352;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4312;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2220;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6916;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=9136;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=138;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=130;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=268;nhomalt_mid=0;AC_nfe_XX=5;AF_nfe_XX=0.000140410;AN_nfe_XX=35610;nhomalt_nfe_XX=0;AC_nfe_XY=2;AF_nfe_XY=7.81739e-05;AN_nfe_XY=25584;nhomalt_nfe_XY=0;AC_nfe=7;AF_nfe=0.000114390;AN_nfe=61194;nhomalt_nfe=0;AC_raw=7;AF_raw=4.66573e-05;AN_raw=150030;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=872;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=888;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1760;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=998;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2968;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3966;nhomalt_sas=0;AC_grpmax=7;AF_grpmax=0.000114390;AN_grpmax=61194;nhomalt_grpmax=0;faf95=2.37100e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=5.34000e-05;faf95_sas=0.00000;faf99=1.69500e-05;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=3.74400e-05;faf99_sas=0.00000;fafmax_faf99_max=3.74400e-05;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|0|0|1|0|0|1;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=6.06963;MQ=32.1323;MQRankSum=-0.106000;QUALapprox=4760;QD=14.7368;ReadPosRankSum=0.106000;SOR=1.02200;VarDP=323;AS_FS=7.89244;AS_MQ=32.3319;AS_MQRankSum=-0.106000;AS_pab_max=1.00000;AS_QUALapprox=4704;AS_QD=15.6800;AS_ReadPosRankSum=0.106000;AS_SB_TABLE=59,84|59,118;AS_SOR=1.08519;AS_VarDP=300;inbreeding_coeff=-4.66595e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.25830;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|7;gq_hist_all_bin_freq=0|0|0|0|43641|11944|6673|2675|963|594|238|91|48|20|9|4|3|1|0|9;dp_hist_alt_bin_freq=0|0|0|2|4|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18019|29304|13533|4750|1155|123|23|4|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|4|1|0|1|0|1|0|0|0|0;cadd_raw_score=0.124101;cadd_phred=2.31500;phylop=-0.615000;VRS_Allele_IDs=ga4gh:VA.WYElhvA6rCKPUh3MWfQgsXO6AMORNkdE,ga4gh:VA.mRVlAL3DCUSGjXvrsFlslyBqw2KgzGVV;VRS_Starts=5031178,5031178;VRS_Ends=5031179,5031179;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-874G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-874G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-874G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-874G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-874G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-874G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-874G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-874G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-874G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031181	.	A	G	.	AC0;AS_VQSR	AC=0;AN=123148;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=64164;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=58984;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=17180;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=15004;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=32184;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=440;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=404;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=844;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5062;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5954;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11016;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1628;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1394;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=3022;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1732;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2098;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3830;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2048;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5954;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8002;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=116;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=122;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=238;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=34298;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=24574;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=58872;nhomalt_nfe=0;AC_raw=1;AF_raw=6.97730e-06;AN_raw=143322;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=784;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=828;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1612;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=876;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2652;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3528;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=19.1887;MQ=28.0607;MQRankSum=0.659000;QUALapprox=204;QD=2.00000;ReadPosRankSum=0.945000;SOR=2.99700;VarDP=102;AS_FS=19.1887;AS_MQ=28.0607;AS_MQRankSum=0.659000;AS_pab_max=0.218750;AS_QUALapprox=204;AS_QD=2.00000;AS_ReadPosRankSum=0.945000;AS_SB_TABLE=45,42|13,2;AS_SOR=2.99722;AS_VarDP=102;inbreeding_coeff=-6.97734e-06;AS_culprit=AS_SOR;AS_VQSLOD=-2.96830;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|42362|10836|5388|1892|625|310|99|40|12|4|4|0|0|0|0|2;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|15705|27435|12659|4519|1110|117|23|4|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.257439;cadd_phred=3.79100;phylop=0.259000;VRS_Allele_IDs=ga4gh:VA.1sEoi-g-mtQux5jfy5rfVh2v9J68h39f,ga4gh:VA._hVBvbazmHl2HC-q6b_xc8pTrLZzELrz;VRS_Starts=5031180,5031180;VRS_Ends=5031181,5031181;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-872A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-872A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-872A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-872A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-872A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-872A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-872A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-872A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-872A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031184	rs1264517882	A	G	.	AS_VQSR	AC=2;AN=135738;AF=1.47343e-05;grpmax=nfe;fafmax_faf95_max=5.38000e-06;fafmax_faf95_max_gen_anc=nfe;AC_XX=2;AF_XX=2.85502e-05;AN_XX=70052;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=65686;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=19864;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=17126;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=36990;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=444;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=414;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=858;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5844;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=7314;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=13158;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1702;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1480;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=3182;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1990;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2382;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4372;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2274;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=7096;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=9370;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=138;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=134;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=272;nhomalt_mid=0;AC_nfe_XX=2;AF_nfe_XX=5.57258e-05;AN_nfe_XX=35890;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=25832;nhomalt_nfe_XY=0;AC_nfe=2;AF_nfe=3.24034e-05;AN_nfe=61722;nhomalt_nfe=0;AC_raw=3;AF_raw=1.99251e-05;AN_raw=150564;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=890;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=896;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1786;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=1016;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=3012;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=4028;nhomalt_sas=0;AC_grpmax=2;AF_grpmax=3.24034e-05;AN_grpmax=61722;nhomalt_grpmax=0;faf95=2.45000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=5.38000e-06;faf95_sas=0.00000;faf99=9.20000e-07;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=2.01000e-06;faf99_sas=0.00000;fafmax_faf99_max=2.01000e-06;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|0|1|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=7.30329;MQ=31.1437;MQRankSum=1.14600;QUALapprox=759;QD=7.82474;ReadPosRankSum=0.639000;SOR=1.49100;VarDP=97;AS_FS=7.30329;AS_MQ=31.1437;AS_MQRankSum=1.14600;AS_pab_max=0.790527;AS_QUALapprox=759;AS_QD=7.82474;AS_ReadPosRankSum=0.639000;AS_SB_TABLE=33,34|10,20;AS_SOR=1.49051;AS_VarDP=97;inbreeding_coeff=-1.99255e-05;AS_culprit=AS_MQ;AS_VQSLOD=-2.61350;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|2;gq_hist_all_bin_freq=0|0|0|0|45091|12223|6577|2384|834|449|182|72|30|15|5|2|1|0|0|4;dp_hist_alt_bin_freq=0|0|1|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18378|29894|13546|4752|1148|122|23|4|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|1|0|0|0|0|0|1|0|0|0|0|0;cadd_raw_score=0.0560030;cadd_phred=1.72600;pangolin_largest_ds=0.00000;phylop=-0.672000;VRS_Allele_IDs=ga4gh:VA.M56PW5DhzR2GJ2VCE26cY2_hLmY8zuwM,ga4gh:VA.9S39ZMKF6JVDOJglgbMZtOUkH-IOvzl6;VRS_Starts=5031183,5031183;VRS_Ends=5031184,5031184;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-869A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-869A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-869A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-869A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-869A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-869A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-869A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-869A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-869A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031185	rs1210884543	C	A	.	AS_VQSR	AC=2;AN=133836;AF=1.49437e-05;grpmax=afr;AC_XX=0;AF_XX=0.00000;AN_XX=69080;nhomalt_XX=0;AC_XY=2;AF_XY=3.08852e-05;AN_XY=64756;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=19574;nhomalt_afr_XX=0;AC_afr_XY=1;AF_afr_XY=5.89414e-05;AN_afr_XY=16966;nhomalt_afr_XY=0;AC_afr=1;AF_afr=2.73673e-05;AN_afr=36540;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=438;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=416;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=854;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5720;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=7104;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=12824;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1704;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1484;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=3188;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1900;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2320;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4220;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2168;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6874;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=9042;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=120;nhomalt_mid_XX=0;AC_mid_XY=1;AF_mid_XY=0.00819672;AN_mid_XY=122;nhomalt_mid_XY=0;AC_mid=1;AF_mid=0.00413223;AN_mid=242;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=35620;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=25652;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=61272;nhomalt_nfe=0;AC_raw=2;AF_raw=1.33758e-05;AN_raw=149524;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=886;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=882;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1768;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=950;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2936;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3886;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=2.73673e-05;AN_grpmax=36540;nhomalt_grpmax=0;faf95=2.48000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=9.30000e-07;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=6.27431;MQ=31.8117;MQRankSum=0.807000;QUALapprox=842;QD=10.7949;ReadPosRankSum=0.297000;SOR=0.262000;VarDP=78;AS_FS=6.25654;AS_MQ=27.0000;AS_MQRankSum=-0.165000;AS_pab_max=0.831812;AS_QUALapprox=415;AS_QD=11.2162;AS_ReadPosRankSum=1.04100;AS_SB_TABLE=13,31|8,9;AS_SOR=0.212126;AS_VarDP=37;inbreeding_coeff=-1.33760e-05;AS_culprit=AS_MQ;AS_VQSLOD=-4.35220;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|2;gq_hist_all_bin_freq=0|0|0|0|44867|12019|6293|2244|789|388|150|60|29|9|4|1|0|0|0|4;dp_hist_alt_bin_freq=0|0|0|1|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|17869|29586|13392|4723|1137|122|22|4|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|1|0|0|0|1|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0683530;cadd_phred=1.82300;phylop=0.325000;VRS_Allele_IDs=ga4gh:VA.SR4bNFdhI3ojpkDVbXpilnk0gG0eCBmt,ga4gh:VA.i13t26kPbeZXhkDeWVCgnj_o1oN5S9wt;VRS_Starts=5031184,5031184;VRS_Ends=5031185,5031185;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-868C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-868C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-868C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-868C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-868C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-868C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-868C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-868C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-868C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031185	rs1210884543	C	T	.	AC0;AS_VQSR	AC=0;AN=133712;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=69080;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=64632;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=19558;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=16872;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=36430;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=438;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=416;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=854;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5714;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=7094;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=12808;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1704;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1484;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=3188;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1904;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2322;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4226;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2168;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6874;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=9042;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=136;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=124;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=260;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=35624;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=25650;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=61274;nhomalt_nfe=0;AC_raw=1;AF_raw=6.69290e-06;AN_raw=149412;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=872;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=874;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1746;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=962;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2922;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3884;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=6.27431;MQ=31.8117;MQRankSum=0.807000;QUALapprox=842;QD=10.7949;ReadPosRankSum=0.297000;SOR=0.262000;VarDP=78;AS_FS=2.64590;AS_MQ=34.1149;AS_MQRankSum=1.14600;AS_pab_max=0.0212708;AS_QUALapprox=427;AS_QD=10.4146;AS_ReadPosRankSum=0.135000;AS_SB_TABLE=13,31|7,10;AS_SOR=0.308864;AS_VarDP=41;inbreeding_coeff=-6.69295e-06;AS_culprit=AS_MQ;AS_VQSLOD=-3.23250;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|44866|12019|6293|2244|789|388|150|60|29|9|4|1|0|0|0|4;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|17869|29586|13391|4723|1137|122|22|4|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.127877;cadd_phred=2.35200;phylop=0.325000;VRS_Allele_IDs=ga4gh:VA.SR4bNFdhI3ojpkDVbXpilnk0gG0eCBmt,ga4gh:VA.o5kb9TEAXLcxYlcmgjW2L-o5VY94sdeq;VRS_Starts=5031184,5031184;VRS_Ends=5031185,5031185;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-868C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-868C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-868C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-868C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-868C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-868C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-868C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-868C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-868C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031186	rs1987122599	A	G	.	AS_VQSR	AC=1;AN=136510;AF=7.32547e-06;grpmax=sas;AC_XX=0;AF_XX=0.00000;AN_XX=70446;nhomalt_XX=0;AC_XY=1;AF_XY=1.51368e-05;AN_XY=66064;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=20074;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=17248;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=37322;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=446;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=418;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=864;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5906;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=7380;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=13286;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1716;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1490;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=3206;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1996;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2402;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4398;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2280;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=7186;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=9466;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=142;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=134;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=276;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=35966;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=25872;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=61838;nhomalt_nfe=0;AC_raw=1;AF_raw=6.62857e-06;AN_raw=150862;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=896;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=904;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1800;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=1024;nhomalt_sas_XX=0;AC_sas_XY=1;AF_sas_XY=0.000330033;AN_sas_XY=3030;nhomalt_sas_XY=0;AC_sas=1;AF_sas=0.000246670;AN_sas=4054;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000246670;AN_grpmax=4054;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|1|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.26266;MQ=31.3316;MQRankSum=1.99200;QUALapprox=408;QD=9.27273;ReadPosRankSum=1.34000;SOR=0.986000;VarDP=44;AS_FS=1.26266;AS_MQ=31.3316;AS_MQRankSum=1.99200;AS_pab_max=0.677639;AS_QUALapprox=408;AS_QD=9.27273;AS_ReadPosRankSum=1.34000;AS_SB_TABLE=9,17|5,13;AS_SOR=0.985960;AS_VarDP=44;inbreeding_coeff=-6.62862e-06;AS_culprit=AS_MQ;AS_VQSLOD=-2.54540;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|45353|12299|6610|2410|850|430|178|70|34|10|6|1|0|0|1|3;dp_hist_alt_bin_freq=0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18543|30091|13560|4767|1142|124|22|4|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.250325;cadd_phred=3.70800;pangolin_largest_ds=0.0100000;phylop=0.259000;VRS_Allele_IDs=ga4gh:VA.WDkQEFRSQDV_Ocu8VGkryIaWWIAA8lrH,ga4gh:VA.BveDDO9zFf0t16WOdp_qnZUxqYsOFo8p;VRS_Starts=5031185,5031185;VRS_Ends=5031186,5031186;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-867A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-867A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-867A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-867A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-867A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-867A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-867A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-867A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-867A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031188	rs1482567564	T	C	.	AS_VQSR	AC=5;AN=136572;AF=3.66107e-05;grpmax=nfe;AC_XX=1;AF_XX=1.42078e-05;AN_XX=70384;nhomalt_XX=0;AC_XY=4;AF_XY=6.04339e-05;AN_XY=66188;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=20112;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=17306;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=37418;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=446;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=418;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=864;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5854;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=7336;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=13190;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1716;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1486;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=3202;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1976;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2398;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4374;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2244;nhomalt_fin_XX=0;AC_fin_XY=4;AF_fin_XY=0.000553097;AN_fin_XY=7232;nhomalt_fin_XY=0;AC_fin=4;AF_fin=0.000422119;AN_fin=9476;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=140;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=130;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=270;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=2.77824e-05;AN_nfe_XX=35994;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=25962;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=1.61405e-05;AN_nfe=61956;nhomalt_nfe=0;AC_raw=5;AF_raw=3.31627e-05;AN_raw=150772;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=890;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=904;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1794;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=1012;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=3016;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=4028;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=1.61405e-05;AN_grpmax=61956;nhomalt_grpmax=0;faf95=1.37100e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=8.78000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|1|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.67111;MQ=30.9779;MQRankSum=-0.857000;QUALapprox=1032;QD=11.0968;ReadPosRankSum=0.553000;SOR=0.523000;VarDP=93;AS_FS=1.67111;AS_MQ=30.9779;AS_MQRankSum=-0.857000;AS_pab_max=1.00000;AS_QUALapprox=1032;AS_QD=11.0968;AS_ReadPosRankSum=0.553000;AS_SB_TABLE=22,28|21,22;AS_SOR=0.523246;AS_VarDP=93;inbreeding_coeff=-3.31638e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.22370;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|5;gq_hist_all_bin_freq=0|0|0|0|45462|12327|6576|2373|833|423|170|70|28|10|5|1|0|0|1|7;dp_hist_alt_bin_freq=0|0|1|2|2|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18603|30117|13519|4754|1142|123|22|4|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|1|0|0|1|0|2|0|1|0|0|0|0|0|0|0;cadd_raw_score=0.00273700;cadd_phred=1.35300;phylop=-0.786000;VRS_Allele_IDs=ga4gh:VA.Ck7B1FnOZDBypc-_Ve12f80MhDkmhiUj,ga4gh:VA.UOQ6Gj40uTT1q4pZbLkSXGRbhVJr2e1b;VRS_Starts=5031187,5031187;VRS_Ends=5031188,5031188;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-865T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-865T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-865T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-865T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-865T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-865T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-865T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-865T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-865T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031190	.	G	T	.	AS_VQSR	AC=1;AN=137254;AF=7.28576e-06;grpmax=nfe;AC_XX=1;AF_XX=1.41419e-05;AN_XX=70712;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=66542;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=20208;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=17354;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=37562;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=448;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=420;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=868;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5922;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=7430;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=13352;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1724;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1496;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=3220;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=2008;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2430;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4438;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2288;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=7304;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=9592;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=140;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=138;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=278;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=2.77377e-05;AN_nfe_XX=36052;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=25990;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=1.61181e-05;AN_nfe=62042;nhomalt_nfe=0;AC_raw=1;AF_raw=6.61612e-06;AN_raw=151146;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=904;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=910;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1814;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=1018;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=3070;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=4088;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=1.61181e-05;AN_grpmax=62042;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|1|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.83322;MQ=34.0937;MQRankSum=0.898000;QUALapprox=141;QD=6.71429;ReadPosRankSum=1.27100;SOR=1.23000;VarDP=21;AS_FS=2.19911;AS_MQ=28.4285;AS_MQRankSum=-0.466000;AS_pab_max=1.00000;AS_QUALapprox=122;AS_QD=11.0909;AS_ReadPosRankSum=0.143000;AS_SB_TABLE=8,6|4,1;AS_SOR=1.56462;AS_VarDP=11;inbreeding_coeff=-6.61616e-06;AS_culprit=AS_MQ;AS_VQSLOD=-3.78930;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|45675|12420|6593|2385|835|430|173|70|26|9|5|2|0|0|1|3;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18840|30196|13544|4753|1143|123|22|4|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0501560;cadd_phred=1.68100;phylop=-0.587000;VRS_Allele_IDs=ga4gh:VA.LdL8EIYD5p1t5kpW2MeqJh3N0_c7QzUl,ga4gh:VA.nnt8JPH5DSVxfZICDMrFGTf04ObFzvqJ;VRS_Starts=5031189,5031189;VRS_Ends=5031190,5031190;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-863G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-863G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-863G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-863G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-863G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-863G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-863G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-863G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-863G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031191	rs1258079055	C	T	.	AS_VQSR	AC=3;AN=135508;AF=2.21389e-05;grpmax=afr;fafmax_faf95_max=8.98000e-06;fafmax_faf95_max_gen_anc=afr;AC_XX=0;AF_XX=0.00000;AN_XX=69960;nhomalt_XX=0;AC_XY=3;AF_XY=4.57680e-05;AN_XY=65548;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=19816;nhomalt_afr_XX=0;AC_afr_XY=2;AF_afr_XY=0.000117041;AN_afr_XY=17088;nhomalt_afr_XY=0;AC_afr=2;AF_afr=5.41947e-05;AN_afr=36904;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=442;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=418;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=860;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5814;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=7218;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=13032;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1708;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1480;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=3188;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=2000;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2380;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4380;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2274;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=7064;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=9338;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=138;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=130;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=268;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=35876;nhomalt_nfe_XX=0;AC_nfe_XY=1;AF_nfe_XY=3.86787e-05;AN_nfe_XY=25854;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=1.61996e-05;AN_nfe=61730;nhomalt_nfe=0;AC_raw=3;AF_raw=1.99572e-05;AN_raw=150322;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=890;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=894;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1784;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=1002;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=3022;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=4024;nhomalt_sas=0;AC_grpmax=2;AF_grpmax=5.41947e-05;AN_grpmax=36904;nhomalt_grpmax=0;faf95=5.89000e-06;faf95_afr=8.98000e-06;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=2.63000e-06;faf99_afr=3.36000e-06;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=3.36000e-06;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=0|1|0|0|0|0|0|1|0|0;age_hist_het_n_smaller=1;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=2.20669;MQ=30.1898;MQRankSum=-0.106000;QUALapprox=800;QD=14.2857;ReadPosRankSum=-0.232000;SOR=1.01700;VarDP=56;AS_FS=2.20669;AS_MQ=30.1898;AS_MQRankSum=-0.106000;AS_pab_max=0.838820;AS_QUALapprox=800;AS_QD=14.2857;AS_ReadPosRankSum=-0.232000;AS_SB_TABLE=14,15|11,16;AS_SOR=1.01665;AS_VarDP=56;inbreeding_coeff=-1.99576e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.67460;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|3;gq_hist_all_bin_freq=0|0|0|0|45410|12244|6325|2295|808|403|157|65|25|9|5|2|0|0|1|5;dp_hist_alt_bin_freq=0|0|0|2|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18296|29924|13497|4744|1142|123|22|4|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|1|1|0|1|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0878230;cadd_phred=0.879000;phylop=-1.59800;VRS_Allele_IDs=ga4gh:VA._Zz6pB991Q7nDDcfnlE13pEoDefvaVU_,ga4gh:VA.D9C-xblWjfrf0OZ1cpOR2JsZqdv9HABg;VRS_Starts=5031190,5031190;VRS_Ends=5031191,5031191;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-862C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-862C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-862C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-862C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-862C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-862C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-862C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-862C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-862C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031193	rs1211298170	C	T	.	AS_VQSR	AC=3;AN=136626;AF=2.19578e-05;grpmax=nfe;fafmax_faf95_max=1.28600e-05;fafmax_faf95_max_gen_anc=nfe;AC_XX=2;AF_XX=2.83841e-05;AN_XX=70462;nhomalt_XX=0;AC_XY=1;AF_XY=1.51140e-05;AN_XY=66164;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=20098;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=17266;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=37364;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=444;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=420;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=864;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5866;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=7340;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=13206;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1720;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1494;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=3214;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=2014;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2408;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4422;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2284;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=7194;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=9478;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=138;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=138;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=276;nhomalt_mid=0;AC_nfe_XX=2;AF_nfe_XX=5.55772e-05;AN_nfe_XX=35986;nhomalt_nfe_XX=0;AC_nfe_XY=1;AF_nfe_XY=3.85297e-05;AN_nfe_XY=25954;nhomalt_nfe_XY=0;AC_nfe=3;AF_nfe=4.84340e-05;AN_nfe=61940;nhomalt_nfe=0;AC_raw=3;AF_raw=1.98794e-05;AN_raw=150910;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=898;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=904;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1802;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=1014;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=3046;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=4060;nhomalt_sas=0;AC_grpmax=3;AF_grpmax=4.84340e-05;AN_grpmax=61940;nhomalt_grpmax=0;faf95=5.84000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=1.28600e-05;faf95_sas=0.00000;faf99=2.62000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=6.56000e-06;faf99_sas=0.00000;fafmax_faf99_max=6.56000e-06;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|1|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=1;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.638112;MQ=31.7371;MQRankSum=0.718000;QUALapprox=1503;QD=10.9708;ReadPosRankSum=0.339000;SOR=0.802000;VarDP=137;AS_FS=0.636015;AS_MQ=31.6703;AS_MQRankSum=0.718000;AS_pab_max=1.00000;AS_QUALapprox=1458;AS_QD=10.7206;AS_ReadPosRankSum=0.339000;AS_SB_TABLE=38,39|28,31;AS_SOR=0.768940;AS_VarDP=136;inbreeding_coeff=-1.98798e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.05930;allele_type=snv;n_alt_alleles=2;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|3;gq_hist_all_bin_freq=0|0|0|0|45625|12364|6472|2336|811|425|165|67|25|10|5|2|0|0|1|5;dp_hist_alt_bin_freq=0|0|0|1|2|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18712|30046|13518|4743|1143|123|22|4|2|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|1|0|1|1|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0900310;cadd_phred=0.870000;phylop=-2.97400;VRS_Allele_IDs=ga4gh:VA.tPUKbASPerL6FxQM8R6NwIsdEPVYgz3a,ga4gh:VA.NSZbQ_2kvtsiuT1XpFUCTB0kBZsytyw8;VRS_Starts=5031192,5031192;VRS_Ends=5031193,5031193;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-860C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-860C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-860C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-860C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-860C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-860C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-860C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-860C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-860C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031194	rs1307100842	G	A	.	AS_VQSR	AC=3926;AN=136004;AF=0.0288668;grpmax=afr;fafmax_faf95_max=0.0995825;fafmax_faf95_max_gen_anc=afr;AC_XX=2125;AF_XX=0.0303190;AN_XX=70088;nhomalt_XX=126;AC_XY=1801;AF_XY=0.0273227;AN_XY=65916;nhomalt_XY=100;nhomalt=226;AC_afr_XX=2043;AF_afr_XX=0.103422;AN_afr_XX=19754;nhomalt_afr_XX=122;AC_afr_XY=1723;AF_afr_XY=0.101020;AN_afr_XY=17056;nhomalt_afr_XY=97;AC_afr=3766;AF_afr=0.102309;AN_afr=36810;nhomalt_afr=219;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=444;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=418;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=862;nhomalt_ami=0;AC_amr_XX=52;AF_amr_XX=0.00883452;AN_amr_XX=5886;nhomalt_amr_XX=2;AC_amr_XY=52;AF_amr_XY=0.00706522;AN_amr_XY=7360;nhomalt_amr_XY=2;AC_amr=104;AF_amr=0.00785143;AN_amr=13246;nhomalt_amr=4;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1714;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1484;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=3198;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1990;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2412;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4402;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2274;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=7184;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=9458;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=124;nhomalt_mid_XX=0;AC_mid_XY=1;AF_mid_XY=0.00757576;AN_mid_XY=132;nhomalt_mid_XY=0;AC_mid=1;AF_mid=0.00390625;AN_mid=256;nhomalt_mid=0;AC_nfe_XX=12;AF_nfe_XX=0.000333389;AN_nfe_XX=35994;nhomalt_nfe_XX=1;AC_nfe_XY=5;AF_nfe_XY=0.000193005;AN_nfe_XY=25906;nhomalt_nfe_XY=0;AC_nfe=17;AF_nfe=0.000274637;AN_nfe=61900;nhomalt_nfe=1;AC_raw=4720;AF_raw=0.0312869;AN_raw=150862;nhomalt_raw=343;AC_remaining_XX=18;AF_remaining_XX=0.0198675;AN_remaining_XX=906;nhomalt_remaining_XX=1;AC_remaining_XY=19;AF_remaining_XY=0.0211111;AN_remaining_XY=900;nhomalt_remaining_XY=1;AC_remaining=37;AF_remaining=0.0204873;AN_remaining=1806;nhomalt_remaining=2;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=1002;nhomalt_sas_XX=0;AC_sas_XY=1;AF_sas_XY=0.000326371;AN_sas_XY=3064;nhomalt_sas_XY=0;AC_sas=1;AF_sas=0.000245942;AN_sas=4066;nhomalt_sas=0;AC_grpmax=3766;AF_grpmax=0.102309;AN_grpmax=36810;nhomalt_grpmax=219;faf95=0.0281126;faf95_afr=0.0995825;faf95_amr=0.00662869;faf95_eas=0.00000;faf95_nfe=0.000174690;faf95_sas=0.00000;faf99=0.0278056;faf99_afr=0.0984700;faf99_amr=0.00617112;faf99_eas=0.00000;faf99_nfe=0.000143070;faf99_sas=0.00000;fafmax_faf99_max=0.0984700;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=70|81|114|146|193|156|121|132|75|51;age_hist_het_n_smaller=345;age_hist_het_n_larger=17;age_hist_hom_bin_freq=2|11|1|12|12|8|9|11|2|1;age_hist_hom_n_smaller=23;age_hist_hom_n_larger=0;FS=1.10070;MQ=29.6086;MQRankSum=-0.234000;QUALapprox=1656754;QD=13.2576;ReadPosRankSum=0.194000;SOR=0.614000;VarDP=124966;AS_FS=1.10070;AS_MQ=29.6086;AS_MQRankSum=-0.248000;AS_pab_max=1.00000;AS_QUALapprox=1656754;AS_QD=13.2576;AS_ReadPosRankSum=0.182000;AS_SB_TABLE=26499,33191|30313,34963;AS_SOR=0.614088;AS_VarDP=124966;inbreeding_coeff=0.117736;AS_culprit=AS_MQ;AS_VQSLOD=-3.65380;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|7|8|71|50|39|53|62|73|73|75|35|63|87|106|142|2735;gq_hist_all_bin_freq=0|0|0|0|44274|11460|5728|1961|619|320|144|102|85|77|37|64|87|106|142|2735;dp_hist_alt_bin_freq=0|0|1605|1314|571|142|34|12|1|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18872|29706|13418|4674|1119|127|20|4|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|67|164|248|348|517|344|708|329|361|188|85|62|34|0|0|0;cadd_raw_score=0.0973960;cadd_phred=2.06800;phylop=-0.588000;VRS_Allele_IDs=ga4gh:VA.PL0cypcSpk-cbhpdhhiDE_Cx9Yrpb7w_,ga4gh:VA.Q5fj1PjCdQL4ItfGkeLNuzQBIsnPlnqB;VRS_Starts=5031193,5031193;VRS_Ends=5031194,5031194;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-859G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-859G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-859G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-859G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-859G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-859G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-859G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-859G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-859G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031196	rs1987122809	T	C	.	AS_VQSR	AC=1;AN=136828;AF=7.30845e-06;grpmax=amr;AC_XX=1;AF_XX=1.41800e-05;AN_XX=70522;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=66306;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=20156;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=17276;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=37432;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=446;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=420;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=866;nhomalt_ami=0;AC_amr_XX=1;AF_amr_XX=0.000169492;AN_amr_XX=5900;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=7408;nhomalt_amr_XY=0;AC_amr=1;AF_amr=7.51428e-05;AN_amr=13308;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1718;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1490;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=3208;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1986;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2402;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4388;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2258;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=7276;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=9534;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=140;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=136;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=276;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=36018;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=25942;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=61960;nhomalt_nfe=0;AC_raw=1;AF_raw=6.62146e-06;AN_raw=151024;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=898;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=906;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1804;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=1002;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=3050;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=4052;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=7.51428e-05;AN_grpmax=13308;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.25420;MQ=27.7082;MQRankSum=-0.456000;QUALapprox=696;QD=16.1860;ReadPosRankSum=1.66900;SOR=0.399000;VarDP=43;AS_FS=1.25420;AS_MQ=27.7082;AS_MQRankSum=-0.456000;AS_pab_max=0.823803;AS_QUALapprox=696;AS_QD=16.1860;AS_ReadPosRankSum=1.66900;AS_SB_TABLE=6,14|9,14;AS_SOR=0.398776;AS_VarDP=43;inbreeding_coeff=-6.62151e-06;AS_culprit=AS_MQ;AS_VQSLOD=-4.05870;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|46562|12078|6302|2205|711|359|123|43|20|7|1|2|0|0|0|1;dp_hist_alt_bin_freq=0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18931|30149|13431|4656|1106|116|19|5|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.257500;cadd_phred=3.79200;phylop=0.260000;VRS_Allele_IDs=ga4gh:VA.OvyYCTifw3TiALfDhAERYEdwiDndylXz,ga4gh:VA.gSvFdOmSWEAjuwolid1VRogFp_567yZw;VRS_Starts=5031195,5031195;VRS_Ends=5031196,5031196;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-857T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-857T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-857T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-857T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-857T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-857T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-857T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-857T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-857T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031199	rs1276594479	C	T	.	AS_VQSR	AC=2;AN=136176;AF=1.46869e-05;grpmax=afr;AC_XX=1;AF_XX=1.42280e-05;AN_XX=70284;nhomalt_XX=0;AC_XY=1;AF_XY=1.51763e-05;AN_XY=65892;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=20072;nhomalt_afr_XX=0;AC_afr_XY=1;AF_afr_XY=5.82208e-05;AN_afr_XY=17176;nhomalt_afr_XY=0;AC_afr=1;AF_afr=2.68471e-05;AN_afr=37248;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=442;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=418;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=860;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5864;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=7310;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=13174;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1716;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1486;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=3202;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1996;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2394;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4390;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2262;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=7152;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=9414;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=140;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=138;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=278;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=2.78598e-05;AN_nfe_XX=35894;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=25902;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=1.61823e-05;AN_nfe=61796;nhomalt_nfe=0;AC_raw=2;AF_raw=1.32621e-05;AN_raw=150806;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=890;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=902;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1792;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=1008;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=3014;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=4022;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=2.68471e-05;AN_grpmax=37248;nhomalt_grpmax=0;faf95=2.44000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=9.10000e-07;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|1|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=3.08913;MQ=30.3480;MQRankSum=-0.742000;QUALapprox=1472;QD=10.5899;ReadPosRankSum=-0.363000;SOR=0.995000;VarDP=139;AS_FS=3.13287;AS_MQ=29.8245;AS_MQRankSum=-0.742000;AS_pab_max=1.00000;AS_QUALapprox=1452;AS_QD=11.2558;AS_ReadPosRankSum=-0.363000;AS_SB_TABLE=42,38|34,23;AS_SOR=1.01141;AS_VarDP=129;inbreeding_coeff=-1.32622e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.63170;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|2;gq_hist_all_bin_freq=0|0|0|0|46506|12013|6213|2163|682|339|110|39|12|5|3|1|0|0|0|2;dp_hist_alt_bin_freq=0|0|0|1|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18754|30048|13403|4638|1105|116|18|5|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|1|1|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0895770;cadd_phred=0.872000;phylop=-2.97900;VRS_Allele_IDs=ga4gh:VA.eN-eMAU0DQlt12lvMeXHOuCG7dkwcs_b,ga4gh:VA.v6PwUogsfLvFICBiHRAKRACYn1YQLqHU;VRS_Starts=5031198,5031198;VRS_Ends=5031199,5031199;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-854C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-854C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-854C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-854C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-854C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-854C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-854C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-854C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-854C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031200	rs1220526665	G	A	.	AS_VQSR	AC=7;AN=135420;AF=5.16910e-05;grpmax=eas;fafmax_faf95_max=0.000314060;fafmax_faf95_max_gen_anc=eas;AC_XX=2;AF_XX=2.86082e-05;AN_XX=69910;nhomalt_XX=0;AC_XY=5;AF_XY=7.63242e-05;AN_XY=65510;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=19838;nhomalt_afr_XX=0;AC_afr_XY=1;AF_afr_XY=5.82208e-05;AN_afr_XY=17176;nhomalt_afr_XY=0;AC_afr=1;AF_afr=2.70168e-05;AN_afr=37014;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=440;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=414;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=854;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5812;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=7184;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=12996;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1708;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1484;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=3192;nhomalt_asj=0;AC_eas_XX=2;AF_eas_XX=0.00101215;AN_eas_XX=1976;nhomalt_eas_XX=0;AC_eas_XY=2;AF_eas_XY=0.000844595;AN_eas_XY=2368;nhomalt_eas_XY=0;AC_eas=4;AF_eas=0.000920810;AN_eas=4344;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2252;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=7008;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=9260;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=128;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=128;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=256;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=35862;nhomalt_nfe_XX=0;AC_nfe_XY=2;AF_nfe_XY=7.74773e-05;AN_nfe_XY=25814;nhomalt_nfe_XY=0;AC_nfe=2;AF_nfe=3.24275e-05;AN_nfe=61676;nhomalt_nfe=0;AC_raw=7;AF_raw=4.65289e-05;AN_raw=150444;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=896;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=908;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1804;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=998;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=3026;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=4024;nhomalt_sas=0;AC_grpmax=4;AF_grpmax=0.000920810;AN_grpmax=4344;nhomalt_grpmax=0;faf95=2.34500e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.000314060;faf95_nfe=5.38000e-06;faf95_sas=0.00000;faf99=1.67800e-05;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.000189480;faf99_nfe=2.01000e-06;faf99_sas=0.00000;fafmax_faf99_max=0.000189480;fafmax_faf99_max_gen_anc=eas;age_hist_het_bin_freq=0|0|0|0|1|1|1|1|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=1;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.09992;MQ=31.0767;MQRankSum=0.0590000;QUALapprox=5674;QD=13.3821;ReadPosRankSum=-0.241000;SOR=0.611000;VarDP=424;AS_FS=1.09992;AS_MQ=31.1329;AS_MQRankSum=0.0590000;AS_pab_max=1.00000;AS_QUALapprox=5650;AS_QD=13.5492;AS_ReadPosRankSum=-0.353000;AS_SB_TABLE=85,115|100,123;AS_SOR=0.603485;AS_VarDP=417;inbreeding_coeff=-4.65311e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.74960;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|6;gq_hist_all_bin_freq=0|0|0|0|46349|11931|6097|2110|667|323|105|40|13|5|3|1|1|0|0|6;dp_hist_alt_bin_freq=0|0|1|5|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18536|29859|13378|4632|1105|116|19|5|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|2|1|1|0|1|0|2|0|0|0|0|0|0;cadd_raw_score=-0.100307;cadd_phred=0.828000;phylop=-1.66800;VRS_Allele_IDs=ga4gh:VA.StRZrsqmk8qN_b1cGDnlG5Szy6vQLYuj,ga4gh:VA.efcOL0PnL7Kcrax6_VUMI-6DGk-SRCdd;VRS_Starts=5031199,5031199;VRS_Ends=5031200,5031200;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-853G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-853G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-853G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-853G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-853G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-853G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-853G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-853G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-853G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031207	rs1394158927	C	T	.	PASS	AC=2;AN=136344;AF=1.46688e-05;grpmax=afr;AC_XX=1;AF_XX=1.42280e-05;AN_XX=70284;nhomalt_XX=0;AC_XY=1;AF_XY=1.51378e-05;AN_XY=66060;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=20076;nhomalt_afr_XX=0;AC_afr_XY=1;AF_afr_XY=5.78235e-05;AN_afr_XY=17294;nhomalt_afr_XY=0;AC_afr=1;AF_afr=2.67594e-05;AN_afr=37370;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=442;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=418;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=860;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5894;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=7350;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=13244;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1710;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1480;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=3190;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1988;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2398;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4386;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2252;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=7214;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=9466;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=130;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=134;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=264;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=2.78629e-05;AN_nfe_XX=35890;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=25834;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=1.62012e-05;AN_nfe=61724;nhomalt_nfe=0;AC_raw=4;AF_raw=2.64708e-05;AN_raw=151110;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=906;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=896;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1802;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=996;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=3042;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=4038;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=2.67594e-05;AN_grpmax=37370;nhomalt_grpmax=0;faf95=2.44000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=9.10000e-07;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=1;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=20.1122;MQ=33.2151;MQRankSum=0.550000;QUALapprox=942;QD=8.26316;ReadPosRankSum=0.550000;SOR=1.87700;VarDP=114;AS_FS=20.1122;AS_MQ=33.2151;AS_MQRankSum=0.550000;AS_pab_max=1.00000;AS_QUALapprox=942;AS_QD=8.26316;AS_ReadPosRankSum=0.550000;AS_SB_TABLE=34,41|28,11;AS_SOR=1.87713;AS_VarDP=114;inbreeding_coeff=-2.64715e-05;AS_culprit=AS_MQ;AS_VQSLOD=-2.08200;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|46537|11776|6180|2183|699|430|159|61|45|18|9|10|3|1|0|1;dp_hist_alt_bin_freq=0|0|2|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|19070|29891|13307|4607|1099|113|19|5|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|1|0|0|1|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0726730;cadd_phred=0.945000;pangolin_largest_ds=0.00000;phylop=-4.19600;VRS_Allele_IDs=ga4gh:VA.LSJ1odw4fbiwq0j3XYEgmg-KScFxQBpl,ga4gh:VA.tqm0znvFp7sAeUjPp9l4CJVd4ZCll4Xy;VRS_Starts=5031206,5031206;VRS_Ends=5031207,5031207;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-846C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-846C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-846C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-846C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-846C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-846C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-846C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-846C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-846C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031208	rs1404295891	G	A	.	AC0;AS_VQSR	AC=0;AN=129332;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=67280;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=62052;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=18812;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=16154;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=34966;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=432;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=410;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=842;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5370;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6444;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11814;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1698;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1462;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=3160;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1766;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2158;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3924;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2094;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6486;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8580;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=134;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=122;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=256;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=35284;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=25160;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=60444;nhomalt_nfe=0;AC_raw=2;AF_raw=1.35901e-05;AN_raw=147166;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=846;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=850;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1696;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=844;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2806;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3650;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=35.4894;MQ=32.7330;MQRankSum=0.348000;QUALapprox=1626;QD=12.9048;ReadPosRankSum=0.570000;SOR=2.22000;VarDP=126;AS_FS=35.4894;AS_MQ=32.7330;AS_MQRankSum=0.348000;AS_pab_max=0.838820;AS_QUALapprox=1626;AS_QD=12.9048;AS_ReadPosRankSum=0.570000;AS_SB_TABLE=37,28|15,46;AS_SOR=2.22043;AS_VarDP=126;inbreeding_coeff=1.00000;AS_culprit=AS_FS;AS_VQSLOD=-3.07660;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|45554|11037|5392|1808|529|252|67|20|5|2|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|17610|28692|12746|4424|1065|106|17|5|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.115611;cadd_phred=2.23400;phylop=0.322000;VRS_Allele_IDs=ga4gh:VA.Oix0bnhXUMcTSJkKfDFmJhUtNw-PHnmQ,ga4gh:VA.Og3TV9ZWdUSK6bT3BDQ5o9LU0rBcVZQb;VRS_Starts=5031207,5031207;VRS_Ends=5031208,5031208;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-845G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-845G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-845G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-845G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-845G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-845G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-845G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-845G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-845G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031211	rs1303173836	A	C	.	AS_VQSR	AC=1;AN=134512;AF=7.43428e-06;grpmax=nfe;AC_XX=0;AF_XX=0.00000;AN_XX=69408;nhomalt_XX=0;AC_XY=1;AF_XY=1.53600e-05;AN_XY=65104;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=19690;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=16904;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=36594;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=442;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=412;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=854;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5802;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=7190;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=12992;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1696;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1474;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=3170;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1960;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2374;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4334;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2214;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=7030;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=9244;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=138;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=136;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=274;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=35602;nhomalt_nfe_XX=0;AC_nfe_XY=1;AF_nfe_XY=3.89166e-05;AN_nfe_XY=25696;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=1.63137e-05;AN_nfe=61298;nhomalt_nfe=0;AC_raw=1;AF_raw=6.64531e-06;AN_raw=150482;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=888;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=890;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1778;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=976;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2998;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3974;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=1.63137e-05;AN_grpmax=61298;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=30.3562;MQRankSum=1.67200;QUALapprox=370;QD=16.8182;ReadPosRankSum=-0.0340000;SOR=0.412000;VarDP=22;AS_FS=0.00000;AS_MQ=30.3562;AS_MQRankSum=1.67200;AS_pab_max=0.286279;AS_QUALapprox=370;AS_QD=16.8182;AS_ReadPosRankSum=-0.0340000;AS_SB_TABLE=2,6|5,9;AS_SOR=0.412245;AS_VarDP=22;inbreeding_coeff=-6.64536e-06;AS_culprit=AS_MQ;AS_VQSLOD=-4.21810;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|46373|11333|6009|2078|689|424|181|66|51|26|7|12|3|2|0|2;dp_hist_alt_bin_freq=0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18789|29627|13095|4533|1080|107|19|5|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0;cadd_raw_score=0.0407330;cadd_phred=1.61100;phylop=-0.781000;VRS_Allele_IDs=ga4gh:VA.Agk4FsopRTuYDQ_Xis7sPWtrTWontYJD,ga4gh:VA.sjQXDoLkttsyfhPUplnvWFkUr1hmBMJO;VRS_Starts=5031210,5031210;VRS_Ends=5031211,5031211;VRS_States=A,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-842A>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-842A>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-842A>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-842A>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-842A>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-842A>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-842A>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-842A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-842A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031212	.	C	G	.	AC0;AS_VQSR	AC=0;AN=135286;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=69856;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=65430;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=19870;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=17054;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=36924;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=438;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=412;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=850;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5810;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=7250;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=13060;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1692;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1476;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=3168;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1976;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2366;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4342;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2238;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=7082;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=9320;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=140;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=136;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=276;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=35806;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=25780;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=61586;nhomalt_nfe=0;AC_raw=1;AF_raw=6.63693e-06;AN_raw=150672;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=896;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=890;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1786;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=990;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2984;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3974;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=35.1039;MQRankSum=2.10000;QUALapprox=96;QD=3.42857;ReadPosRankSum=-0.0910000;SOR=0.551000;VarDP=28;AS_FS=0.00000;AS_MQ=35.1039;AS_MQRankSum=2.10000;AS_pab_max=0.0129395;AS_QUALapprox=96;AS_QD=3.42857;AS_ReadPosRankSum=-0.0910000;AS_SB_TABLE=13,11|2,2;AS_SOR=0.550831;AS_VarDP=28;inbreeding_coeff=-6.63698e-06;AS_culprit=AS_QD;AS_VQSLOD=-2.83920;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|46547|11425|6117|2084|695|427|174|70|51|27|8|12|3|2|0|1;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|19122|29685|13096|4528|1080|107|19|5|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.103165;cadd_phred=2.11900;phylop=0.325000;VRS_Allele_IDs=ga4gh:VA.wccdTNMQN5b1AdlBDy5doz96jhOGnCKo,ga4gh:VA.vSe4xQulTm26m4bRANjKEEv5r4vN1GYt;VRS_Starts=5031211,5031211;VRS_Ends=5031212,5031212;VRS_States=C,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-841C>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-841C>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-841C>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-841C>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-841C>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-841C>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-841C>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-841C>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-841C>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031216	.	T	C	.	AC0	AC=0;AN=133826;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=69160;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=64666;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=19630;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=16864;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=36494;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=440;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=412;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=852;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5758;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=7148;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=12906;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1692;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1474;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=3166;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1870;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2250;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4120;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2202;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=7006;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=9208;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=132;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=132;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=264;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=35634;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=25634;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=61268;nhomalt_nfe=0;AC_raw=1;AF_raw=6.66560e-06;AN_raw=150024;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=878;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=884;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1762;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=924;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2862;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3786;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=2.44155;MQ=39.1065;MQRankSum=1.18200;QUALapprox=102;QD=4.08000;ReadPosRankSum=0.752000;SOR=0.175000;VarDP=25;AS_FS=2.44155;AS_MQ=39.1065;AS_MQRankSum=1.18200;AS_pab_max=0.0385742;AS_QUALapprox=102;AS_QD=4.08000;AS_ReadPosRankSum=0.752000;AS_SB_TABLE=6,15|2,2;AS_SOR=0.175134;AS_VarDP=25;inbreeding_coeff=-6.66564e-06;AS_culprit=AS_QD;AS_VQSLOD=-2.27740;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|46660|11152|5878|1970|649|359|130|51|42|10|6|5|1|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|19201|29404|12797|4371|1033|87|14|5|1|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.00274700;cadd_phred=1.31800;phylop=-1.69400;VRS_Allele_IDs=ga4gh:VA.iPqMtPEHiKkKsxrVtOhhqQVIgydH7dmt,ga4gh:VA.N3Va_gCkkb72qlekR2q-XPyBxvAWl8Xg;VRS_Starts=5031215,5031215;VRS_Ends=5031216,5031216;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-837T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-837T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-837T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-837T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-837T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-837T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-837T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-837T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-837T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031223	rs1397649157	C	T	.	AS_VQSR	AC=2;AN=134098;AF=1.49145e-05;grpmax=afr;fafmax_faf95_max=9.06000e-06;fafmax_faf95_max_gen_anc=afr;AC_XX=1;AF_XX=1.44333e-05;AN_XX=69284;nhomalt_XX=0;AC_XY=1;AF_XY=1.54288e-05;AN_XY=64814;nhomalt_XY=0;nhomalt=0;AC_afr_XX=1;AF_afr_XX=5.08337e-05;AN_afr_XX=19672;nhomalt_afr_XX=0;AC_afr_XY=1;AF_afr_XY=5.92487e-05;AN_afr_XY=16878;nhomalt_afr_XY=0;AC_afr=2;AF_afr=5.47196e-05;AN_afr=36550;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=444;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=414;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=858;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5754;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=7196;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=12950;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1678;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1464;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=3142;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1960;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2350;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4310;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2208;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=7022;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=9230;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=136;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=132;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=268;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=35578;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=25550;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=61128;nhomalt_nfe=0;AC_raw=6;AF_raw=3.97857e-05;AN_raw=150808;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=878;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=886;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1764;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=976;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2922;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3898;nhomalt_sas=0;AC_grpmax=2;AF_grpmax=5.47196e-05;AN_grpmax=36550;nhomalt_grpmax=0;faf95=2.48000e-06;faf95_afr=9.06000e-06;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=9.30000e-07;faf99_afr=3.39000e-06;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=3.39000e-06;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.482325;MQ=30.8399;MQRankSum=0.289000;QUALapprox=2462;QD=10.5214;ReadPosRankSum=-0.428000;SOR=0.754000;VarDP=234;AS_FS=4.08057;AS_MQ=31.7308;AS_MQRankSum=0.480000;AS_pab_max=1.00000;AS_QUALapprox=1942;AS_QD=11.2907;AS_ReadPosRankSum=-0.189000;AS_SB_TABLE=65,69|32,44;AS_SOR=0.975714;AS_VarDP=172;inbreeding_coeff=0.333307;AS_culprit=AS_MQ;AS_VQSLOD=-3.30780;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1|1;gq_hist_all_bin_freq=0|0|0|0|47409|10976|5696|1884|569|322|106|39|27|12|1|3|2|0|1|2;dp_hist_alt_bin_freq=0|0|1|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|19906|29279|12557|4222|986|80|14|5|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|1|0|0|1|0|0|0|0|0|0;cadd_raw_score=-0.0691230;cadd_phred=0.961000;phylop=-1.65600;VRS_Allele_IDs=ga4gh:VA.Wz2-HISHGdrUk-6pO6y_rtSG87nFocHu,ga4gh:VA.g49YbZLxhi6kPT4c2febAXptUDQbUGpd;VRS_Starts=5031222,5031222;VRS_Ends=5031223,5031223;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-830C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-830C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-830C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-830C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-830C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-830C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-830C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-830C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-830C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031224	rs1172447810	G	A	.	AS_VQSR	AC=17;AN=131522;AF=0.000129256;grpmax=afr;fafmax_faf95_max=0.000193150;fafmax_faf95_max_gen_anc=afr;AC_XX=7;AF_XX=0.000102811;AN_XX=68086;nhomalt_XX=0;AC_XY=10;AF_XY=0.000157639;AN_XY=63436;nhomalt_XY=0;nhomalt=0;AC_afr_XX=3;AF_afr_XX=0.000156348;AN_afr_XX=19188;nhomalt_afr_XX=0;AC_afr_XY=9;AF_afr_XY=0.000543807;AN_afr_XY=16550;nhomalt_afr_XY=0;AC_afr=12;AF_afr=0.000335777;AN_afr=35738;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=438;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=414;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=852;nhomalt_ami=0;AC_amr_XX=2;AF_amr_XX=0.000359324;AN_amr_XX=5566;nhomalt_amr_XX=0;AC_amr_XY=1;AF_amr_XY=0.000145012;AN_amr_XY=6896;nhomalt_amr_XY=0;AC_amr=3;AF_amr=0.000240732;AN_amr=12462;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1672;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1472;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=3144;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1822;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2232;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4054;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2152;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6738;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8890;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=122;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=128;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=250;nhomalt_mid=0;AC_nfe_XX=2;AF_nfe_XX=5.65611e-05;AN_nfe_XX=35360;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=25298;nhomalt_nfe_XY=0;AC_nfe=2;AF_nfe=3.29717e-05;AN_nfe=60658;nhomalt_nfe=0;AC_raw=21;AF_raw=0.000140536;AN_raw=149428;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=872;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=870;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1742;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=894;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2838;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3732;nhomalt_sas=0;AC_grpmax=12;AF_grpmax=0.000335777;AN_grpmax=35738;nhomalt_grpmax=0;faf95=8.15700e-05;faf95_afr=0.000193150;faf95_amr=6.55300e-05;faf95_eas=0.00000;faf95_nfe=5.47000e-06;faf95_sas=0.00000;faf99=6.71700e-05;faf99_afr=0.000151420;faf99_amr=3.45700e-05;faf99_eas=0.00000;faf99_nfe=2.05000e-06;faf99_sas=0.00000;fafmax_faf99_max=0.000151420;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=2|0|0|0|1|0|0|1|2|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=9.39862;MQ=30.5740;MQRankSum=0.0330000;QUALapprox=7526;QD=11.8333;ReadPosRankSum=0.312000;SOR=0.352000;VarDP=636;AS_FS=8.21272;AS_MQ=30.4476;AS_MQRankSum=0.0330000;AS_pab_max=1.00000;AS_QUALapprox=7510;AS_QD=12.0160;AS_ReadPosRankSum=0.312000;AS_SB_TABLE=124,210|143,157;AS_SOR=0.352428;AS_VarDP=625;inbreeding_coeff=-0.000140556;AS_culprit=AS_MQ;AS_VQSLOD=-3.99800;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|1|0|1|1|0|0|0|0|0|0|15;gq_hist_all_bin_freq=0|0|0|0|47096|10673|5347|1734|490|238|66|22|9|3|0|0|1|0|0|15;dp_hist_alt_bin_freq=0|0|7|7|4|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|19224|28815|12393|4187|979|79|12|5|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|0|2|1|2|1|4|4|1|0|1|1|0|0|0|0;cadd_raw_score=0.120612;cadd_phred=2.28200;phylop=-4.15000;VRS_Allele_IDs=ga4gh:VA.H4vIPLRF-5uGe-FKXjd8yXIGr330wl-t,ga4gh:VA.8O4TT0iA50czHA9IirBD8S1EdiJWw0ut;VRS_Starts=5031223,5031223;VRS_Ends=5031224,5031224;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-829G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-829G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-829G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-829G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-829G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-829G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-829G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-829G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-829G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031226	rs1477861257	G	C	.	PASS	AC=1;AN=133922;AF=7.46703e-06;AC_XX=0;AF_XX=0.00000;AN_XX=69100;nhomalt_XX=0;AC_XY=1;AF_XY=1.54269e-05;AN_XY=64822;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=19652;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=16962;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=36614;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=442;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=416;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=858;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5752;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=7162;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=12914;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1666;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1466;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=3132;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1930;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2328;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4258;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2210;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6992;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=9202;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=124;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=132;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=256;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=35472;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=25526;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=60998;nhomalt_nfe=0;AC_raw=1;AF_raw=6.62585e-06;AN_raw=150924;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=886;nhomalt_remaining_XX=0;AC_remaining_XY=1;AF_remaining_XY=0.00112613;AN_remaining_XY=888;nhomalt_remaining_XY=0;AC_remaining=1;AF_remaining=0.000563698;AN_remaining=1774;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=966;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2950;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3916;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=3.79578;MQ=42.3287;MQRankSum=1.61600;QUALapprox=525;QD=9.21053;ReadPosRankSum=1.05400;SOR=0.852000;VarDP=57;AS_FS=3.94482;AS_MQ=Infinity;AS_MQRankSum=0.829000;AS_pab_max=1.00000;AS_QUALapprox=489;AS_QD=12.5385;AS_ReadPosRankSum=-1.72800;AS_SB_TABLE=16,20|11,8;AS_SOR=0.889169;AS_VarDP=39;inbreeding_coeff=-6.62590e-06;AS_culprit=AS_ReadPosRankSum;AS_VQSLOD=-2.16010;negative_train_site;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|47519|10877|5666|1861|536|301|86|27|19|4|1|0|1|0|0|1;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|20046|29103|12475|4196|980|82|12|5|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0935040;cadd_phred=2.03400;pangolin_largest_ds=0.0200000;phylop=0.322000;VRS_Allele_IDs=ga4gh:VA.SvKdQTQj4jqBeGgdTzF660cYpZRnmHbc,ga4gh:VA.ecjeLHnmkGaLiJwui0_hRDO7WiwifrQY;VRS_Starts=5031225,5031225;VRS_Ends=5031226,5031226;VRS_States=G,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-827G>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-827G>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-827G>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-827G>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-827G>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-827G>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-827G>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-827G>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-827G>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031228	rs1987123474	T	C	.	PASS	AC=1;AN=132360;AF=7.55515e-06;grpmax=sas;AC_XX=0;AF_XX=0.00000;AN_XX=68510;nhomalt_XX=0;AC_XY=1;AF_XY=1.56617e-05;AN_XY=63850;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=19360;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=16554;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=35914;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=440;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=414;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=854;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5694;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=7034;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=12728;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1666;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1454;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=3120;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1920;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2300;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=4220;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2196;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6886;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=9082;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=136;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=130;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=266;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=35288;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=25344;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=60632;nhomalt_nfe=0;AC_raw=2;AF_raw=1.32961e-05;AN_raw=150420;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=858;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=870;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1728;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=952;nhomalt_sas_XX=0;AC_sas_XY=1;AF_sas_XY=0.000349162;AN_sas_XY=2864;nhomalt_sas_XY=0;AC_sas=1;AF_sas=0.000262055;AN_sas=3816;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000262055;AN_grpmax=3816;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|1|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=4.82164e-16;MQ=33.3137;MQRankSum=0.296000;QUALapprox=118;QD=3.37143;ReadPosRankSum=0.720000;SOR=0.892000;VarDP=35;AS_FS=4.82164e-16;AS_MQ=33.3137;AS_MQRankSum=0.296000;AS_pab_max=0.687500;AS_QUALapprox=118;AS_QD=3.37143;AS_ReadPosRankSum=0.720000;AS_SB_TABLE=13,13|4,5;AS_SOR=0.891998;AS_VarDP=35;inbreeding_coeff=-1.32963e-05;AS_culprit=AS_QD;AS_VQSLOD=-2.48500;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|47727|10512|5419|1711|476|248|60|15|6|3|2|1|0|0|0|0;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|19959|28747|12283|4129|967|78|12|5|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.259204;cadd_phred=3.81200;pangolin_largest_ds=0.00000;phylop=0.260000;VRS_Allele_IDs=ga4gh:VA.-ISvg2ZxdgBgB6gbz5nqZ76QGdXCwagG,ga4gh:VA.8xfAWpemzEijZwjASAfzjDIVW5vVguDT;VRS_Starts=5031227,5031227;VRS_Ends=5031228,5031228;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-825T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-825T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-825T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-825T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-825T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-825T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-825T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-825T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-825T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031240	.	G	A	.	AS_VQSR	AC=2;AN=126984;AF=1.57500e-05;grpmax=eas;fafmax_faf95_max=8.74200e-05;fafmax_faf95_max_gen_anc=eas;AC_XX=0;AF_XX=0.00000;AN_XX=66212;nhomalt_XX=0;AC_XY=2;AF_XY=3.29099e-05;AN_XY=60772;nhomalt_XY=1;nhomalt=1;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=18434;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=15868;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=34302;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=432;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=410;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=842;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5276;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6320;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11596;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1638;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1426;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=3064;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1848;nhomalt_eas_XX=0;AC_eas_XY=2;AF_eas_XY=0.000920810;AN_eas_XY=2172;nhomalt_eas_XY=1;AC_eas=2;AF_eas=0.000497512;AN_eas=4020;nhomalt_eas=1;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2090;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6120;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8210;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=116;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=122;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=238;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=34644;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=24742;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=59386;nhomalt_nfe=0;AC_raw=2;AF_raw=1.34960e-05;AN_raw=148192;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=838;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=838;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1676;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=896;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2754;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3650;nhomalt_sas=0;AC_grpmax=2;AF_grpmax=0.000497512;AN_grpmax=4020;nhomalt_grpmax=1;faf95=2.62000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=8.74200e-05;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=9.80000e-07;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=3.63100e-05;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=3.63100e-05;fafmax_faf99_max_gen_anc=eas;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=2.99480;MQ=30.7004;MQRankSum=2.00300;QUALapprox=436;QD=12.1111;ReadPosRankSum=1.18200;SOR=1.29200;VarDP=36;AS_FS=3.46659;AS_MQ=26.5866;AS_QUALapprox=407;AS_QD=31.3077;AS_SB_TABLE=11,8|10,3;AS_SOR=1.65897;AS_VarDP=13;inbreeding_coeff=1.00000;AS_culprit=AS_MQ;AS_VQSLOD=-5.54320;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|47315|9416|4639|1428|374|182|49|13|7|3|3|1|0|0|0|0;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|19492|27325|11647|3945|936|72|8|5|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.104007;cadd_phred=0.814000;phylop=-0.609000;VRS_Allele_IDs=ga4gh:VA.OXXOnsdnrSd-nQ09uypzaoyboNhH7rIK,ga4gh:VA.kZisWseUAaYuiHulS9g0a4lm3TIBMAZw;VRS_Starts=5031239,5031239;VRS_Ends=5031240,5031240;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-813G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-813G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-813G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-813G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-813G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-813G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-813G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-813G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-813G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031249	.	T	A	.	AC0;AS_VQSR	AC=0;AN=122906;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=64148;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=58758;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=17904;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=15460;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=33364;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=422;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=400;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=822;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5118;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6204;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11322;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1594;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1400;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2994;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1582;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1912;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3494;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1896;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6084;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7980;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=112;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=116;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=228;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=33978;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23948;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=57926;nhomalt_nfe=0;AC_raw=1;AF_raw=6.82352e-06;AN_raw=146552;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=814;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=778;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1592;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=728;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2456;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3184;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=2.07221;MQ=30.5018;MQRankSum=0.922000;QUALapprox=82;QD=3.28000;ReadPosRankSum=0.751000;SOR=1.38500;VarDP=25;AS_FS=2.79269;AS_MQ=29.4979;AS_MQRankSum=0.922000;AS_pab_max=0.453125;AS_QUALapprox=60;AS_QD=3.75000;AS_ReadPosRankSum=0.751000;AS_SB_TABLE=12,8|3,0;AS_SOR=2.15971;AS_VarDP=16;inbreeding_coeff=-6.82356e-06;AS_culprit=AS_SOR;AS_VQSLOD=-3.96380;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|47093|8599|4092|1185|256|135|24|2|1|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|19795|26012|10905|3754|859|54|7|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.202796;cadd_phred=3.15600;phylop=0.260000;VRS_Allele_IDs=ga4gh:VA.5cS6W9vDeaYwF9nrFduQRuZrULuRD9Vm,ga4gh:VA.fkyEiZzwljOfdDa-KLP298FieMQgWlOh;VRS_Starts=5031248,5031248;VRS_Ends=5031249,5031249;VRS_States=T,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-804T>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-804T>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-804T>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-804T>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-804T>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-804T>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-804T>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-804T>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-804T>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031252	rs1184800066	C	A	.	AS_VQSR	AC=31;AN=127058;AF=0.000243983;grpmax=afr;fafmax_faf95_max=0.000597400;fafmax_faf95_max_gen_anc=afr;AC_XX=16;AF_XX=0.000242079;AN_XX=66094;nhomalt_XX=0;AC_XY=15;AF_XY=0.000246047;AN_XY=60964;nhomalt_XY=0;nhomalt=0;AC_afr_XX=15;AF_afr_XX=0.000803859;AN_afr_XX=18660;nhomalt_afr_XX=0;AC_afr_XY=14;AF_afr_XY=0.000873145;AN_afr_XY=16034;nhomalt_afr_XY=0;AC_afr=29;AF_afr=0.000835879;AN_afr=34694;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=426;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=414;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=840;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5352;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6596;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11948;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1634;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1410;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=3044;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1822;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2160;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3982;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2064;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6418;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8482;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=114;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=124;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=238;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=2.91596e-05;AN_nfe_XX=34294;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=24306;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=1.70648e-05;AN_nfe=58600;nhomalt_nfe=0;AC_raw=38;AF_raw=0.000253138;AN_raw=150116;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=828;nhomalt_remaining_XX=0;AC_remaining_XY=1;AF_remaining_XY=0.00123762;AN_remaining_XY=808;nhomalt_remaining_XY=0;AC_remaining=1;AF_remaining=0.000611247;AN_remaining=1636;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=900;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2694;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3594;nhomalt_sas=0;AC_grpmax=29;AF_grpmax=0.000835879;AN_grpmax=34694;nhomalt_grpmax=0;faf95=0.000176460;faf95_afr=0.000597400;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.000152860;faf99_afr=0.000517280;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=0.000517280;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=0|1|0|3|2|0|0|0|1|1;age_hist_het_n_smaller=5;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=29.8631;MQRankSum=0.118000;QUALapprox=15086;QD=11.7767;ReadPosRankSum=0.0670000;SOR=0.665000;VarDP=1281;AS_FS=0.00000;AS_MQ=29.3584;AS_MQRankSum=0.180000;AS_pab_max=1.00000;AS_QUALapprox=13480;AS_QD=12.3443;AS_ReadPosRankSum=0.0600000;AS_SB_TABLE=310,360|255,288;AS_SOR=0.665699;AS_VarDP=1092;inbreeding_coeff=-0.000253202;AS_culprit=AS_MQ;AS_VQSLOD=-3.70780;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|1|1|1|27;gq_hist_all_bin_freq=0|0|0|0|48111|8913|4490|1337|320|191|55|13|10|3|0|1|1|2|1|29;dp_hist_alt_bin_freq=0|0|15|10|4|1|1|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|21308|26508|10987|3755|856|54|8|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|0|2|5|2|3|12|2|4|0|0|0|0|0|0|0;cadd_raw_score=0.0618870;cadd_phred=1.77100;phylop=-0.733000;VRS_Allele_IDs=ga4gh:VA.gaH2KJa3Gw8VyxAZxQEzLIVCsHXT3pHq,ga4gh:VA.nFRzBSgMQQf5WFVttoHmGMyY7a8GIDK3;VRS_Starts=5031251,5031251;VRS_Ends=5031252,5031252;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-801C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-801C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-801C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-801C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-801C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-801C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-801C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-801C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-801C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031252	rs1184800066	C	T	.	AS_VQSR	AC=3;AN=126954;AF=2.36306e-05;grpmax=eas;fafmax_faf95_max=8.90300e-05;fafmax_faf95_max_gen_anc=eas;AC_XX=1;AF_XX=1.51304e-05;AN_XX=66092;nhomalt_XX=0;AC_XY=2;AF_XY=3.28612e-05;AN_XY=60862;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=18646;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=15946;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=34592;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=426;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=414;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=840;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5342;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6588;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11930;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1634;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1410;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=3044;nhomalt_asj=0;AC_eas_XX=1;AF_eas_XX=0.000547645;AN_eas_XX=1826;nhomalt_eas_XX=0;AC_eas_XY=1;AF_eas_XY=0.000462107;AN_eas_XY=2164;nhomalt_eas_XY=0;AC_eas=2;AF_eas=0.000501253;AN_eas=3990;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2064;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6418;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8482;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=128;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=126;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=254;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=34302;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=24306;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=58608;nhomalt_nfe=0;AC_raw=6;AF_raw=3.99931e-05;AN_raw=150026;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=816;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=804;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1620;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=908;nhomalt_sas_XX=0;AC_sas_XY=1;AF_sas_XY=0.000372301;AN_sas_XY=2686;nhomalt_sas_XY=0;AC_sas=1;AF_sas=0.000278242;AN_sas=3594;nhomalt_sas=0;AC_grpmax=2;AF_grpmax=0.000501253;AN_grpmax=3990;nhomalt_grpmax=0;faf95=6.28000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=8.90300e-05;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=2.74000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=3.65300e-05;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=3.65300e-05;fafmax_faf99_max_gen_anc=eas;age_hist_het_bin_freq=0|0|0|0|1|0|0|1|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=29.8631;MQRankSum=0.118000;QUALapprox=15086;QD=11.7767;ReadPosRankSum=0.0670000;SOR=0.665000;VarDP=1281;AS_FS=4.82164e-16;AS_MQ=32.6070;AS_MQRankSum=0.118000;AS_pab_max=1.00000;AS_QUALapprox=1606;AS_QD=8.49735;AS_ReadPosRankSum=0.135000;AS_SB_TABLE=310,360|32,36;AS_SOR=0.659074;AS_VarDP=189;inbreeding_coeff=-3.99947e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.02030;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|2;gq_hist_all_bin_freq=0|0|0|0|48111|8913|4490|1337|320|191|55|13|10|3|0|1|1|2|1|29;dp_hist_alt_bin_freq=0|0|2|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|21308|26508|10987|3755|856|54|8|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|1|0|2|0|0|0|0|0|0|0;cadd_raw_score=0.121412;cadd_phred=2.28900;phylop=-0.733000;VRS_Allele_IDs=ga4gh:VA.gaH2KJa3Gw8VyxAZxQEzLIVCsHXT3pHq,ga4gh:VA.CC7vESL_lndPDeGo2B06yPLCSNmo67jA;VRS_Starts=5031251,5031251;VRS_Ends=5031252,5031252;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-801C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-801C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-801C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-801C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-801C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-801C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-801C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-801C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-801C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031253	rs1258921342	G	A	.	AS_VQSR	AC=1;AN=122888;AF=8.13749e-06;AC_XX=0;AF_XX=0.00000;AN_XX=64256;nhomalt_XX=0;AC_XY=1;AF_XY=1.70555e-05;AN_XY=58632;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=17856;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=15358;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=33214;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=428;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=404;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=832;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5120;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6174;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11294;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1620;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1398;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=3018;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1634;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2012;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3646;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1990;nhomalt_fin_XX=0;AC_fin_XY=1;AF_fin_XY=0.000166722;AN_fin_XY=5998;nhomalt_fin_XY=0;AC_fin=1;AF_fin=0.000125188;AN_fin=7988;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=120;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=118;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=238;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=33918;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23862;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=57780;nhomalt_nfe=0;AC_raw=4;AF_raw=2.70948e-05;AN_raw=147630;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=782;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=784;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1566;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=788;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2524;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3312;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|1|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=2.47586;MQ=31.2991;MQRankSum=0.00000;QUALapprox=953;QD=8.07627;ReadPosRankSum=0.715000;SOR=0.541000;VarDP=118;AS_FS=0.735055;AS_MQ=31.2685;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=913;AS_QD=8.53271;AS_ReadPosRankSum=0.715000;AS_SB_TABLE=33,42|19,21;AS_SOR=0.563321;AS_VarDP=107;inbreeding_coeff=-2.70955e-05;AS_culprit=AS_MQ;AS_VQSLOD=-2.96620;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|47508|8463|3980|1119|230|124|17|1|1|0|0|0|1|0|0|0;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|20255|25774|10789|3715|849|53|8|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.147006;cadd_phred=0.662000;phylop=-0.609000;VRS_Allele_IDs=ga4gh:VA.d5IbW7EEbv1g0nVRV7jiW1lbI3uQt2e1,ga4gh:VA.-wJcC30qLxid_qThvY8-Iwd1u-k0Gtwu;VRS_Starts=5031252,5031252;VRS_Ends=5031253,5031253;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-800G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-800G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-800G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-800G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-800G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-800G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-800G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-800G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-800G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031254	rs1182778837	A	C	.	AS_VQSR	AC=4;AN=123276;AF=3.24475e-05;grpmax=afr;fafmax_faf95_max=4.10200e-05;fafmax_faf95_max_gen_anc=afr;AC_XX=3;AF_XX=4.65477e-05;AN_XX=64450;nhomalt_XX=0;AC_XY=1;AF_XY=1.69993e-05;AN_XY=58826;nhomalt_XY=0;nhomalt=0;AC_afr_XX=3;AF_afr_XX=0.000167243;AN_afr_XX=17938;nhomalt_afr_XX=0;AC_afr_XY=1;AF_afr_XY=6.53339e-05;AN_afr_XY=15306;nhomalt_afr_XY=0;AC_afr=4;AF_afr=0.000120322;AN_afr=33244;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=422;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=408;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=830;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5132;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6236;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11368;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1610;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1388;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2998;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1714;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2038;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3752;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2014;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6074;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8088;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=122;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=114;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=236;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=33912;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23912;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=57824;nhomalt_nfe=0;AC_raw=7;AF_raw=4.72245e-05;AN_raw=148228;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=780;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=784;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1564;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=806;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2566;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3372;nhomalt_sas=0;AC_grpmax=4;AF_grpmax=0.000120322;AN_grpmax=33244;nhomalt_grpmax=0;faf95=1.05800e-05;faf95_afr=4.10200e-05;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=6.11000e-06;faf99_afr=2.38600e-05;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=2.38600e-05;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=0|0|0|0|0|0|0|1|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=3.09739;MQ=29.6755;MQRankSum=0.248000;QUALapprox=2050;QD=9.44700;ReadPosRankSum=0.00000;SOR=0.500000;VarDP=217;AS_FS=3.16308;AS_MQ=29.0237;AS_MQRankSum=0.272000;AS_pab_max=1.00000;AS_QUALapprox=2007;AS_QD=11.0275;AS_ReadPosRankSum=0.00000;AS_SB_TABLE=53,72|41,45;AS_SOR=0.504638;AS_VarDP=182;inbreeding_coeff=-4.72268e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.92740;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|1|0|0|0|0|0|0|1|0|0|0|0|0|0|2;gq_hist_all_bin_freq=0|0|0|0|47762|8311|4021|1131|259|121|23|2|4|1|0|0|0|0|1|2;dp_hist_alt_bin_freq=0|0|3|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|20542|25751|10739|3697|848|53|7|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|1|0|1|0|0|1|0|1|0|0|0;cadd_raw_score=0.223539;cadd_phred=3.39500;phylop=0.259000;VRS_Allele_IDs=ga4gh:VA.ldQfn8R7HafPd2BV5xmf1KhQMQM0XKjY,ga4gh:VA.aVVk-GkSEMN95_8eQsnjyumrDZhIeJ5X;VRS_Starts=5031253,5031253;VRS_Ends=5031254,5031254;VRS_States=A,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-799A>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-799A>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-799A>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-799A>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-799A>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-799A>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-799A>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-799A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-799A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031261	.	G	T	.	AC0;AS_VQSR	AC=0;AN=123212;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=64452;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=58760;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=18004;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=15390;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=33394;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=414;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=408;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=822;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5144;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6312;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11456;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1608;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1372;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2980;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1750;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2086;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3836;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2040;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6062;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8102;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=126;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=122;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=248;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=33712;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23646;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=57358;nhomalt_nfe=0;AC_raw=3;AF_raw=2.00986e-05;AN_raw=149264;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=784;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=766;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1550;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=870;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2596;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3466;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=28.2512;MQRankSum=0.0670000;QUALapprox=91;QD=1.75000;ReadPosRankSum=-0.118000;SOR=0.693000;VarDP=52;AS_FS=0.00000;AS_MQ=28.2337;AS_MQRankSum=0.107000;AS_pab_max=0.179688;AS_QUALapprox=71;AS_QD=1.69048;AS_ReadPosRankSum=0.480000;AS_SB_TABLE=21,21|4,4;AS_SOR=0.693147;AS_VarDP=42;inbreeding_coeff=-2.00990e-05;AS_culprit=AS_QD;AS_VQSLOD=-3.09120;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|48336|7933|3890|1078|227|119|20|2|1|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|21500|25088|10485|3634|838|53|7|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.155212;cadd_phred=0.636000;phylop=-0.609000;VRS_Allele_IDs=ga4gh:VA.8BmZjpKZo-SJJi_t2bA3ihzfqMwtUNFa,ga4gh:VA.Q8_lo0xPkG1jDkx6IatX1qT7AveL9YOi;VRS_Starts=5031260,5031260;VRS_Ends=5031261,5031261;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-792G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-792G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-792G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-792G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-792G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-792G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-792G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-792G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-792G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031262	.	G	T	.	AC0;AS_VQSR	AC=0;AN=123090;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=64368;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=58722;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=18036;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=15392;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=33428;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=414;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=410;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=824;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5168;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6348;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11516;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1604;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1368;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2972;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1744;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2092;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3836;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2040;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6082;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8122;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=126;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=126;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=252;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=33592;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23548;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=57140;nhomalt_nfe=0;AC_raw=1;AF_raw=6.68869e-06;AN_raw=149506;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=778;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=774;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1552;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=866;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2582;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3448;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=3.51270;MQ=31.0761;MQRankSum=0.118000;QUALapprox=90;QD=2.14286;ReadPosRankSum=0.107000;SOR=1.06100;VarDP=42;AS_FS=4.83881;AS_MQ=31.8756;AS_MQRankSum=1.58900;AS_pab_max=0.289063;AS_QUALapprox=61;AS_QD=3.21053;AS_ReadPosRankSum=0.354000;AS_SB_TABLE=15,19|3,1;AS_SOR=1.53471;AS_VarDP=19;inbreeding_coeff=-6.68874e-06;AS_culprit=AS_QD;AS_VQSLOD=-2.66460;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|48451|7860|3840|1042|222|111|17|2|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|21651|24930|10440|3627|836|53|7|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0459880;cadd_phred=1.65000;phylop=0.320000;VRS_Allele_IDs=ga4gh:VA.M83l9y949KNQ1dQ4srlv1-ZLqUxQToph,ga4gh:VA.QnQza66oYFhto5GFDxcgKM8Sq9GtZx6s;VRS_Starts=5031261,5031261;VRS_Ends=5031262,5031262;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-791G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-791G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-791G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-791G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-791G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-791G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-791G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-791G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-791G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031265	.	T	C	.	AC0;AS_VQSR	AC=0;AN=121890;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=63730;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=58160;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=17828;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=15254;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=33082;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=420;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=398;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=818;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5124;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6278;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11402;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1582;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1368;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2950;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1702;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2032;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3734;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2020;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=6030;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=8050;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=120;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=118;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=238;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=33332;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23408;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=56740;nhomalt_nfe=0;AC_raw=2;AF_raw=1.34097e-05;AN_raw=149146;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=774;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=768;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1542;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=828;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2506;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3334;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=9.64327e-16;MQ=33.0311;MQRankSum=1.39300;QUALapprox=375;QD=5.00000;ReadPosRankSum=-0.348000;SOR=0.656000;VarDP=75;AS_FS=9.64327e-16;AS_MQ=33.0311;AS_MQRankSum=1.39300;AS_pab_max=1.00000;AS_QUALapprox=375;AS_QD=5.00000;AS_ReadPosRankSum=-0.348000;AS_SB_TABLE=25,32|8,10;AS_SOR=0.656119;AS_VarDP=75;inbreeding_coeff=-1.34099e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.28020;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|48587|7465|3646|944|200|89|11|2|0|0|0|0|1|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|21790|24416|10261|3591|827|52|7|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0392620;cadd_phred=1.60100;phylop=-4.64900;VRS_Allele_IDs=ga4gh:VA.guJVWNJUZBJZJWd--HbETJ6I39vjzTDb,ga4gh:VA.7VAaJCH22S2CBDkloRCmaPyDmSMpupM_;VRS_Starts=5031264,5031264;VRS_Ends=5031265,5031265;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-788T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-788T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-788T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-788T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-788T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-788T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-788T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-788T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-788T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031271	rs1457642214	G	A	.	AS_VQSR	AC=1;AN=120504;AF=8.29848e-06;grpmax=afr;AC_XX=1;AF_XX=1.58373e-05;AN_XX=63142;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=57362;nhomalt_XY=0;nhomalt=0;AC_afr_XX=1;AF_afr_XX=5.68958e-05;AN_afr_XX=17576;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=15080;nhomalt_afr_XY=0;AC_afr=1;AF_afr=3.06222e-05;AN_afr=32656;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=414;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=400;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=814;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=5050;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6106;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11156;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1588;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1356;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2944;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1686;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=2012;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3698;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=2002;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5826;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7828;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=114;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=120;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=234;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=33108;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23232;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=56340;nhomalt_nfe=0;AC_raw=2;AF_raw=1.34064e-05;AN_raw=149182;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=770;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=766;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1536;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=834;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2464;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3298;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=3.06222e-05;AN_grpmax=32656;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|1|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=3.96215;MQ=32.0611;MQRankSum=0.00000;QUALapprox=386;QD=6.65517;ReadPosRankSum=0.572000;SOR=0.321000;VarDP=58;AS_FS=2.60714;AS_MQ=32.2478;AS_MQRankSum=0.358000;AS_pab_max=1.00000;AS_QUALapprox=357;AS_QD=7.00000;AS_ReadPosRankSum=0.618000;AS_SB_TABLE=15,25|8,8;AS_SOR=0.321140;AS_VarDP=51;inbreeding_coeff=-1.34066e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.06000;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|49033|6845|3282|816|178|83|11|2|0|0|1|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|22031|23752|10034|3558|818|52|6|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0806820;cadd_phred=1.92400;phylop=0.322000;VRS_Allele_IDs=ga4gh:VA.NJSQ3T053OMjlV-7zCcp5c2Mnax0zms7,ga4gh:VA.pBLzlRfI4lTbDr0RlGgyUVlDsvePWU_n;VRS_Starts=5031270,5031270;VRS_Ends=5031271,5031271;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-782G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-782G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-782G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-782G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-782G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-782G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-782G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-782G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-782G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031273	rs1256392750	A	G	.	AC0;AS_VQSR	AC=0;AN=119384;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=62606;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=56778;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=17424;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14918;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=32342;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=412;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=396;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=808;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4988;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6038;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=11026;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1576;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1348;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2924;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1660;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1984;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3644;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1958;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5718;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7676;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=114;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=118;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=232;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=32906;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=23080;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=55986;nhomalt_nfe=0;AC_raw=1;AF_raw=6.72522e-06;AN_raw=148694;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=768;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=756;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1524;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=800;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2422;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3222;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=33.0131;MQRankSum=0.751000;QUALapprox=99;QD=2.35714;ReadPosRankSum=-0.751000;SOR=0.621000;VarDP=42;AS_FS=0.00000;AS_MQ=33.0131;AS_MQRankSum=0.751000;AS_pab_max=0.0390625;AS_QUALapprox=99;AS_QD=2.35714;AS_ReadPosRankSum=-0.751000;AS_SB_TABLE=15,22|2,3;AS_SOR=0.620750;AS_VarDP=42;inbreeding_coeff=-6.72527e-06;AS_culprit=AS_QD;AS_VQSLOD=-3.63580;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|49009|6613|3096|746|144|72|9|3|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|21875|23458|9944|3542|816|51|5|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.00362000;cadd_phred=1.35800;phylop=-6.43500;VRS_Allele_IDs=ga4gh:VA.hU0FjytzOrL8qr2l_9zUfXmP2hv3SpMB,ga4gh:VA.aKBoE7iSpaWKDAmaGMFdHYEPKZLOpyeE;VRS_Starts=5031272,5031272;VRS_Ends=5031273,5031273;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-780A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-780A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-780A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-780A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-780A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-780A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-780A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-780A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-780A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031274	rs1987123816	T	C	.	AC0;AS_VQSR	AC=0;AN=118754;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=62274;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=56480;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=17302;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14852;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=32154;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=406;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=392;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=798;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4958;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6010;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=10968;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1578;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1338;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2916;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1624;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1948;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3572;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1960;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5712;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7672;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=116;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=114;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=230;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=32780;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=22988;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=55768;nhomalt_nfe=0;AC_raw=2;AF_raw=1.34622e-05;AN_raw=148564;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=768;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=750;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1518;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=782;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2376;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3158;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.23363;MQ=32.7716;MQRankSum=1.17900;QUALapprox=288;QD=5.76000;ReadPosRankSum=-0.751000;SOR=0.425000;VarDP=50;AS_FS=1.67191;AS_MQ=33.8014;AS_MQRankSum=1.17900;AS_pab_max=0.179688;AS_QUALapprox=107;AS_QD=2.60976;AS_ReadPosRankSum=-0.296000;AS_SB_TABLE=15,21|4,3;AS_SOR=0.737846;AS_VarDP=41;inbreeding_coeff=-1.34624e-05;AS_culprit=AS_QD;AS_VQSLOD=-2.98290;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|48996|6448|2977|730|143|71|10|2|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|21761|23317|9890|3538|814|51|5|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.211718;cadd_phred=3.25800;phylop=-4.79900;VRS_Allele_IDs=ga4gh:VA.neEQ330uf83G6o0zg7LP-RVY1Yq7sM-O,ga4gh:VA.R4cJjOl26ZKiqTnJHje-8NeNBKvCL8by;VRS_Starts=5031273,5031273;VRS_Ends=5031274,5031274;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-779T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-779T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-779T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-779T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-779T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-779T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-779T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-779T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-779T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031275	.	G	C	.	AC0;AS_VQSR	AC=0;AN=118980;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=62452;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=56528;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=17392;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14890;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=32282;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=410;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=396;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=806;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4954;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5998;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=10952;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1574;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1334;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2908;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1670;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1968;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3638;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1978;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5678;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7656;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=112;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=116;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=228;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=32792;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=22994;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=55786;nhomalt_nfe=0;AC_raw=2;AF_raw=1.34398e-05;AN_raw=148812;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=766;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=754;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1520;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=804;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2400;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3204;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.17010;MQ=32.2806;MQRankSum=0.752000;QUALapprox=213;QD=2.62963;ReadPosRankSum=0.00000;SOR=0.515000;VarDP=81;AS_FS=0.00000;AS_MQ=31.7988;AS_MQRankSum=0.752000;AS_pab_max=0.0390625;AS_QUALapprox=126;AS_QD=2.62500;AS_ReadPosRankSum=0.752000;AS_SB_TABLE=31,38|3,3;AS_SOR=0.514763;AS_VarDP=48;inbreeding_coeff=-1.34400e-05;AS_culprit=AS_QD;AS_VQSLOD=-2.68570;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|49223|6405|2938|701|142|67|13|1|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|21997|23236|9857|3528|814|52|5|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.00803200;cadd_phred=1.38600;phylop=-1.63100;VRS_Allele_IDs=ga4gh:VA.xm3H29xVujV8yXAePn8gopGfXGryWPAM,ga4gh:VA.Vc8j0c1S4pdD3B5TT4H1fw_Z5EJ12cws;VRS_Starts=5031274,5031274;VRS_Ends=5031275,5031275;VRS_States=G,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-778G>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-778G>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-778G>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-778G>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-778G>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-778G>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-778G>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-778G>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-778G>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031275	.	G	T	.	AC0;AS_VQSR	AC=0;AN=118982;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=62454;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=56528;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=17392;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14890;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=32282;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=410;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=396;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=806;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4956;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5998;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=10954;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1574;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1334;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2908;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1670;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1968;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3638;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1978;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5678;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7656;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=112;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=116;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=228;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=32792;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=22994;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=55786;nhomalt_nfe=0;AC_raw=1;AF_raw=6.71989e-06;AN_raw=148812;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=766;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=754;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1520;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=804;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2400;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3204;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.17010;MQ=32.2806;MQRankSum=0.752000;QUALapprox=213;QD=2.62963;ReadPosRankSum=0.00000;SOR=0.515000;VarDP=81;AS_FS=0.00000;AS_MQ=35.9371;AS_MQRankSum=1.73300;AS_pab_max=0.109375;AS_QUALapprox=73;AS_QD=3.47619;AS_ReadPosRankSum=0.00000;AS_SB_TABLE=31,38|2,2;AS_SOR=0.514763;AS_VarDP=21;inbreeding_coeff=-6.71993e-06;AS_culprit=AS_QD;AS_VQSLOD=-2.70590;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|49223|6405|2938|701|142|67|14|1|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|21998|23236|9857|3528|814|52|5|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.00412600;cadd_phred=1.31000;phylop=-1.63100;VRS_Allele_IDs=ga4gh:VA.xm3H29xVujV8yXAePn8gopGfXGryWPAM,ga4gh:VA.xp0D9f7M1feD-ma4CFbN7lFbrYvf3eph;VRS_Starts=5031274,5031274;VRS_Ends=5031275,5031275;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-778G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-778G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-778G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-778G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-778G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-778G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-778G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-778G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-778G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031276	.	C	T	.	AC0;AS_VQSR	AC=0;AN=118630;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=62292;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=56338;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=17360;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14812;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=32172;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=408;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=394;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=802;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4946;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6022;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=10968;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1558;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1334;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2892;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1672;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1974;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3646;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1966;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5654;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7620;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=116;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=116;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=232;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=32694;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=22906;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=55600;nhomalt_nfe=0;AC_raw=2;AF_raw=1.34550e-05;AN_raw=148644;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=762;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=752;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1514;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=810;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2374;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3184;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.43984;MQ=31.1412;MQRankSum=0.736000;QUALapprox=123;QD=1.83582;ReadPosRankSum=-0.691000;SOR=0.394000;VarDP=67;AS_FS=1.53103;AS_MQ=31.8915;AS_MQRankSum=0.736000;AS_pab_max=0.218750;AS_QUALapprox=104;AS_QD=1.82456;AS_ReadPosRankSum=-0.736000;AS_SB_TABLE=21,37|3,4;AS_SOR=0.421154;AS_VarDP=57;inbreeding_coeff=-1.34551e-05;AS_culprit=AS_QD;AS_VQSLOD=-3.79780;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|49209|6341|2876|672|138|63|15|1|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|21982|23127|9822|3513|813|52|5|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0730020;cadd_phred=1.86000;phylop=0.315000;VRS_Allele_IDs=ga4gh:VA.-2urOuoRxp2vVe5lOE52mEV4HtDljnnh,ga4gh:VA.bSDp79irHLMtfF9Kera3iq_ocjzCym7p;VRS_Starts=5031275,5031275;VRS_Ends=5031276,5031276;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-777C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-777C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-777C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-777C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-777C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-777C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-777C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-777C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-777C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031277	rs1200683675	A	G	.	AS_VQSR	AC=1;AN=117422;AF=8.51629e-06;grpmax=nfe;AC_XX=0;AF_XX=0.00000;AN_XX=61716;nhomalt_XX=0;AC_XY=1;AF_XY=1.79514e-05;AN_XY=55706;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=17178;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14606;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=31784;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=408;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=392;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=800;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4904;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5972;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=10876;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1554;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1328;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2882;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1650;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1944;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3594;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1938;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5524;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7462;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=116;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=104;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=220;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=32424;nhomalt_nfe_XX=0;AC_nfe_XY=1;AF_nfe_XY=4.39676e-05;AN_nfe_XY=22744;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=1.81265e-05;AN_nfe=55168;nhomalt_nfe=0;AC_raw=2;AF_raw=1.35026e-05;AN_raw=148120;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=752;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=750;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1502;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=792;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2342;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3134;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=1.81265e-05;AN_grpmax=55168;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=31.6640;MQRankSum=0.736000;QUALapprox=301;QD=4.56061;ReadPosRankSum=-0.736000;SOR=0.693000;VarDP=66;AS_FS=0.00000;AS_MQ=31.6640;AS_MQRankSum=0.736000;AS_pab_max=1.00000;AS_QUALapprox=301;AS_QD=4.56061;AS_ReadPosRankSum=-0.736000;AS_SB_TABLE=25,25|8,8;AS_SOR=0.693147;AS_VarDP=66;inbreeding_coeff=-1.35027e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.77280;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|49068|6159|2685|615|121|53|8|1|0|0|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|21642|22917|9780|3503|811|52|5|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.200737;cadd_phred=3.13200;phylop=-0.671000;VRS_Allele_IDs=ga4gh:VA.3L3M-uGiLxaCUP5yDjKxysNRwWs74ruO,ga4gh:VA.gFdw6gmxt2K1OHjhgLbdsqqbI8fTF_3v;VRS_Starts=5031276,5031276;VRS_Ends=5031277,5031277;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-776A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-776A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-776A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-776A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-776A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-776A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-776A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-776A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-776A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031278	rs1318891992	C	T	.	AS_VQSR	AC=6;AN=118428;AF=5.06637e-05;grpmax=nfe;fafmax_faf95_max=3.46600e-05;fafmax_faf95_max_gen_anc=nfe;AC_XX=5;AF_XX=8.03342e-05;AN_XX=62240;nhomalt_XX=0;AC_XY=1;AF_XY=1.77974e-05;AN_XY=56188;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=17322;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14792;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=32114;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=410;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=394;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=804;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4940;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=6012;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=10952;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1562;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1336;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2898;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1668;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1978;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3646;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1936;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5590;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7526;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=118;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=114;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=232;nhomalt_mid=0;AC_nfe_XX=4;AF_nfe_XX=0.000122272;AN_nfe_XX=32714;nhomalt_nfe_XX=0;AC_nfe_XY=1;AF_nfe_XY=4.37790e-05;AN_nfe_XY=22842;nhomalt_nfe_XY=0;AC_nfe=5;AF_nfe=8.99993e-05;AN_nfe=55556;nhomalt_nfe=0;AC_raw=9;AF_raw=6.05327e-05;AN_raw=148680;nhomalt_raw=1;AC_remaining_XX=1;AF_remaining_XX=0.00131579;AN_remaining_XX=760;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=756;nhomalt_remaining_XY=0;AC_remaining=1;AF_remaining=0.000659631;AN_remaining=1516;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=810;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2374;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3184;nhomalt_sas=0;AC_grpmax=5;AF_grpmax=8.99993e-05;AN_grpmax=55556;nhomalt_grpmax=0;faf95=2.11800e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=3.46600e-05;faf95_sas=0.00000;faf99=1.49400e-05;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=2.20700e-05;faf99_sas=0.00000;fafmax_faf99_max=2.20700e-05;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|1|1|0|1|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=5.92353;MQ=29.7822;MQRankSum=-0.377000;QUALapprox=2764;QD=10.9683;ReadPosRankSum=0.311000;SOR=0.440000;VarDP=252;AS_FS=5.98075;AS_MQ=29.9327;AS_MQRankSum=-0.377000;AS_pab_max=1.00000;AS_QUALapprox=2735;AS_QD=11.9432;AS_ReadPosRankSum=0.101000;AS_SB_TABLE=56,77|57,58;AS_SOR=0.439929;AS_VarDP=229;inbreeding_coeff=0.222175;AS_culprit=AS_MQ;AS_VQSLOD=-3.91410;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|5;gq_hist_all_bin_freq=0|0|0|0|49512|6141|2716|639|128|60|12|0|0|0|0|0|1|0|0|5;dp_hist_alt_bin_freq=0|0|1|3|0|1|1|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|22135|22949|9759|3502|812|51|5|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|1|0|1|1|1|1|1|0|0|0|0|0|0|0;cadd_raw_score=0.100599;cadd_phred=2.09600;phylop=-0.581000;VRS_Allele_IDs=ga4gh:VA.r05IjH_h80yw_WKamUnhQufkEF8GtGX6,ga4gh:VA.4QQsJws6Eu7-rrU_5o5saT1B7T91WGcv;VRS_Starts=5031277,5031277;VRS_Ends=5031278,5031278;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-775C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-775C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-775C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-775C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-775C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-775C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-775C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-775C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-775C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031282	.	C	T	.	AC0;AS_VQSR	AC=0;AN=116440;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=61218;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=55222;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16986;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14484;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=31470;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=408;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=388;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=796;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4856;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5928;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=10784;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1548;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1326;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2874;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1638;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1938;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3576;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1924;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5548;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7472;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=112;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=110;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=222;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=32202;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=22492;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=54694;nhomalt_nfe=0;AC_raw=1;AF_raw=6.75320e-06;AN_raw=148078;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=750;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=738;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1488;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=794;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2270;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=3064;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.37145;MQ=32.0708;MQRankSum=0.752000;QUALapprox=151;QD=2.55932;ReadPosRankSum=0.107000;SOR=0.399000;VarDP=59;AS_FS=0.00000;AS_MQ=31.2287;AS_MQRankSum=0.888000;AS_pab_max=0.0385742;AS_QUALapprox=65;AS_QD=2.60000;AS_ReadPosRankSum=0.537000;AS_SB_TABLE=20,29|2,2;AS_SOR=0.398776;AS_VarDP=25;inbreeding_coeff=-6.75324e-06;AS_culprit=AS_QD;AS_VQSLOD=-2.95820;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|49261|5750|2470|564|115|49|10|0|1|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|21813|22450|9629|3466|806|50|5|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0951690;cadd_phred=2.04800;phylop=0.325000;VRS_Allele_IDs=ga4gh:VA.gsjP0J-JAwcxlNb6Bgdw7dG_ZUcsugTJ,ga4gh:VA.N4pwqSq6_TsurhmaqasH0qTjbVxEVAZz;VRS_Starts=5031281,5031281;VRS_Ends=5031282,5031282;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-771C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-771C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-771C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-771C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-771C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-771C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-771C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-771C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-771C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031283	rs2123013259	A	G	.	AS_VQSR	AC=1;AN=113260;AF=8.82924e-06;grpmax=nfe;AC_XX=0;AF_XX=0.00000;AN_XX=59632;nhomalt_XX=0;AC_XY=1;AF_XY=1.86470e-05;AN_XY=53628;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16466;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14034;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30500;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=396;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=384;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=780;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4732;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5768;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=10500;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1528;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1278;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2806;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1576;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1872;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3448;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1860;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5366;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7226;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=100;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=104;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=204;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=31494;nhomalt_nfe_XX=0;AC_nfe_XY=1;AF_nfe_XY=4.55332e-05;AN_nfe_XY=21962;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=1.87070e-05;AN_nfe=53456;nhomalt_nfe=0;AC_raw=1;AF_raw=6.80272e-06;AN_raw=147000;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=746;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=718;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1464;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=734;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2142;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2876;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=1.87070e-05;AN_grpmax=53456;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=35.7231;MQRankSum=0.0670000;QUALapprox=430;QD=12.2857;ReadPosRankSum=-0.720000;SOR=0.829000;VarDP=35;AS_FS=0.00000;AS_MQ=32.9084;AS_MQRankSum=0.810000;AS_pab_max=0.687500;AS_QUALapprox=367;AS_QD=14.1154;AS_ReadPosRankSum=2.27600;AS_SB_TABLE=9,10|6,8;AS_SOR=0.861271;AS_VarDP=26;inbreeding_coeff=-6.80277e-06;AS_culprit=AS_MQ;AS_VQSLOD=-2.56360;negative_train_site;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|48234|5453|2243|505|98|39|7|0|0|0|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|20667|22037|9558|3457|805|50|5|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0;cadd_raw_score=0.205124;cadd_phred=3.18200;pangolin_largest_ds=0.00000;phylop=0.259000;VRS_Allele_IDs=ga4gh:VA.0CXOsowuECiVMOxy4dztF5Y6zMWnX_cS,ga4gh:VA.xM-PoGTXGIgA060SLjrkBm9I9ulD2w7O;VRS_Starts=5031282,5031282;VRS_Ends=5031283,5031283;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-770A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-770A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-770A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-770A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-770A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-770A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-770A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-770A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-770A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031284	rs1272573428	C	T	.	AS_VQSR	AC=2;AN=114512;AF=1.74654e-05;grpmax=nfe;fafmax_faf95_max=6.16000e-06;fafmax_faf95_max_gen_anc=nfe;AC_XX=1;AF_XX=1.65948e-05;AN_XX=60260;nhomalt_XX=0;AC_XY=1;AF_XY=1.84325e-05;AN_XY=54252;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16704;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=14214;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=30918;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=398;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=384;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=782;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4790;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5830;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=10620;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1528;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1298;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2826;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1604;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1914;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3518;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1890;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5478;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7368;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=110;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=110;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=220;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=3.15259e-05;AN_nfe_XX=31720;nhomalt_nfe_XX=0;AC_nfe_XY=1;AF_nfe_XY=4.52120e-05;AN_nfe_XY=22118;nhomalt_nfe_XY=0;AC_nfe=2;AF_nfe=3.71485e-05;AN_nfe=53838;nhomalt_nfe=0;AC_raw=4;AF_raw=2.70984e-05;AN_raw=147610;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=744;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=726;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1470;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=772;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2180;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2952;nhomalt_sas=0;AC_grpmax=2;AF_grpmax=3.71485e-05;AN_grpmax=53838;nhomalt_grpmax=0;faf95=2.90000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=6.16000e-06;faf95_sas=0.00000;faf99=1.09000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=2.31000e-06;faf99_sas=0.00000;fafmax_faf99_max=2.31000e-06;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|1|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=3.77406;MQ=28.0819;MQRankSum=-0.537000;QUALapprox=736;QD=6.94340;ReadPosRankSum=0.0990000;SOR=1.07500;VarDP=106;AS_FS=4.01901;AS_MQ=28.0632;AS_MQRankSum=0.489000;AS_pab_max=0.814529;AS_QUALapprox=713;AS_QD=8.80247;AS_ReadPosRankSum=0.118000;AS_SB_TABLE=32,37|12,21;AS_SOR=1.15052;AS_VarDP=81;inbreeding_coeff=-2.70992e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.44810;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|2;gq_hist_all_bin_freq=0|0|0|0|48842|5485|2274|514|93|40|5|1|0|0|0|0|0|0|0|2;dp_hist_alt_bin_freq=0|0|0|1|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|21383|22024|9539|3451|804|49|5|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|2|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.173131;cadd_phred=0.583000;phylop=-4.65900;VRS_Allele_IDs=ga4gh:VA.r3AaTvwZoR5e8YRF8jNhAEtbupQf5czm,ga4gh:VA.gY948ItqALN-XXfvhBPLMtbNJLnCHUjh;VRS_Starts=5031283,5031283;VRS_Ends=5031284,5031284;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-769C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-769C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-769C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-769C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-769C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-769C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-769C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-769C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-769C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031285	rs1242743123	A	G	.	AS_VQSR	AC=150;AN=111102;AF=0.00135011;grpmax=afr;fafmax_faf95_max=0.00377388;fafmax_faf95_max_gen_anc=afr;AC_XX=78;AF_XX=0.00133206;AN_XX=58556;nhomalt_XX=1;AC_XY=72;AF_XY=0.00137023;AN_XY=52546;nhomalt_XY=0;nhomalt=1;AC_afr_XX=70;AF_afr_XX=0.00433544;AN_afr_XX=16146;nhomalt_afr_XX=0;AC_afr_XY=61;AF_afr_XY=0.00444283;AN_afr_XY=13730;nhomalt_afr_XY=0;AC_afr=131;AF_afr=0.00438479;AN_afr=29876;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=392;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=376;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=768;nhomalt_ami=0;AC_amr_XX=8;AF_amr_XX=0.00171453;AN_amr_XX=4666;nhomalt_amr_XX=1;AC_amr_XY=11;AF_amr_XY=0.00193050;AN_amr_XY=5698;nhomalt_amr_XY=0;AC_amr=19;AF_amr=0.00183327;AN_amr=10364;nhomalt_amr=1;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1492;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1278;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2770;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1530;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1812;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3342;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1776;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5232;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7008;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=100;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=198;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=30998;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=21526;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=52524;nhomalt_nfe=0;AC_raw=203;AF_raw=0.00138834;AN_raw=146218;nhomalt_raw=5;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=720;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=718;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1438;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=738;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2076;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2814;nhomalt_sas=0;AC_grpmax=131;AF_grpmax=0.00438479;AN_grpmax=29876;nhomalt_grpmax=0;faf95=0.00117402;faf95_afr=0.00377388;faf95_amr=0.00120043;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00110679;faf99_afr=0.00354294;faf99_amr=0.000997360;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=0.00354294;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=4|3|3|2|9|10|8|3|4|1;age_hist_het_n_smaller=12;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|1|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.08953;MQ=28.8774;MQRankSum=-0.0850000;QUALapprox=56471;QD=11.9515;ReadPosRankSum=0.259000;SOR=0.607000;VarDP=4725;AS_FS=1.09513;AS_MQ=28.8773;AS_MQRankSum=-0.0850000;AS_pab_max=1.00000;AS_QUALapprox=56396;AS_QD=11.9635;AS_ReadPosRankSum=0.259000;AS_SB_TABLE=1089,1234|1180,1217;AS_SOR=0.603518;AS_VarDP=4714;inbreeding_coeff=0.0479393;AS_culprit=AS_MQ;AS_VQSLOD=-3.69610;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|1|4|2|2|1|5|7|1|4|2|4|3|5|6|102;gq_hist_all_bin_freq=0|0|0|0|47792|5079|1976|422|67|29|7|7|1|4|2|4|3|5|6|102;dp_hist_alt_bin_freq=0|0|95|41|13|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|20319|21493|9424|3418|797|49|5|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|5|6|7|9|20|15|33|11|18|13|2|3|6|0|0|0;cadd_raw_score=0.00500000;cadd_phred=1.36700;phylop=-1.74200;VRS_Allele_IDs=ga4gh:VA.KhBuSXs28x_lfzAiSzgdphQ4hS40LSRa,ga4gh:VA.fcx-FKjj6jsc1GGjLTyqeNCd3S1rBD3_;VRS_Starts=5031284,5031284;VRS_Ends=5031285,5031285;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-768A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-768A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-768A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-768A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-768A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-768A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-768A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-768A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-768A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031285	.	A	T	.	AC0;AS_VQSR	AC=0;AN=111014;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=58554;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=52460;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=16128;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=13666;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=29794;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=392;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=376;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=768;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4660;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5688;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=10348;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1492;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1278;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2770;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1536;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1812;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3348;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1776;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=5232;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=7008;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=106;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=102;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=208;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=31006;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=21526;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=52532;nhomalt_nfe=0;AC_raw=2;AF_raw=1.36849e-05;AN_raw=146146;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=710;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=710;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1420;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=748;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=2070;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2818;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.08953;MQ=28.8774;MQRankSum=-0.0850000;QUALapprox=56471;QD=11.9515;ReadPosRankSum=0.259000;SOR=0.607000;VarDP=4725;AS_FS=.;AS_MQ=28.9372;AS_MQRankSum=0.406000;AS_pab_max=1.00000;AS_QUALapprox=75;AS_QD=6.81818;AS_ReadPosRankSum=0.406000;AS_SB_TABLE=1089,1234|0,5;AS_SOR=3.36877;AS_VarDP=11;inbreeding_coeff=-1.36851e-05;AS_culprit=AS_SOR;AS_VQSLOD=-9.49120;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|47792|5079|1977|422|67|29|7|7|1|4|2|4|3|5|6|102;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|20320|21493|9424|3418|797|49|5|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0381540;cadd_phred=1.11400;phylop=-1.74200;VRS_Allele_IDs=ga4gh:VA.KhBuSXs28x_lfzAiSzgdphQ4hS40LSRa,ga4gh:VA.hWYfOQ3ek_wMHte3SCO82ThhsrgUynC4;VRS_Starts=5031284,5031284;VRS_Ends=5031285,5031285;VRS_States=A,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-768A>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-768A>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-768A>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-768A>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-768A>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-768A>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-768A>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-768A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-768A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031289	rs2123013283	G	A	.	AC0;AS_VQSR	AC=0;AN=105372;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=55688;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=49684;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=15158;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=12768;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=27926;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=374;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=352;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=726;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4350;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5336;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9686;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1432;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1216;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2648;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1466;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1720;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3186;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1674;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4850;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6524;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=102;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=108;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=210;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=29778;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=20758;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=50536;nhomalt_nfe=0;AC_raw=1;AF_raw=6.86926e-06;AN_raw=145576;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=688;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=680;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1368;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=666;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1896;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2562;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.46950;MQ=30.0858;MQRankSum=1.58900;QUALapprox=96;QD=2.13333;ReadPosRankSum=-0.572000;SOR=0.740000;VarDP=45;AS_FS=1.63211;AS_MQ=29.3810;AS_MQRankSum=-0.254000;AS_pab_max=0.0922852;AS_QUALapprox=71;AS_QD=1.91892;AS_ReadPosRankSum=-0.888000;AS_SB_TABLE=16,20|4,3;AS_SOR=0.796529;AS_VarDP=37;inbreeding_coeff=-6.86931e-06;AS_culprit=AS_QD;AS_VQSLOD=-3.97220;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|45767|4669|1808|353|59|28|2|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18789|20521|9158|3373|790|49|5|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0570290;cadd_phred=1.73400;phylop=0.322000;VRS_Allele_IDs=ga4gh:VA.9faUl1pdf6Vly0rqQbIbGLiNG8XEkKsb,ga4gh:VA.YHBfQm4CQeCbR2JAgJ1n4HWj590tEyRt;VRS_Starts=5031288,5031288;VRS_Ends=5031289,5031289;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-764G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-764G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-764G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-764G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-764G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-764G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-764G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-764G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-764G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031290	.	G	T	.	AC0;AS_VQSR	AC=0;AN=105578;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=55722;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=49856;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=15156;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=12824;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=27980;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=374;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=356;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=730;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4358;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5364;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9722;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1430;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1224;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2654;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1464;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1742;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3206;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1686;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4854;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6540;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=110;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=208;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=29810;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=20790;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=50600;nhomalt_nfe=0;AC_raw=5;AF_raw=3.43119e-05;AN_raw=145722;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=674;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=686;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1360;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=672;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1906;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2578;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.06855;MQ=29.0840;MQRankSum=0.751000;QUALapprox=168;QD=2.02410;ReadPosRankSum=-0.107000;SOR=0.769000;VarDP=83;AS_FS=0.00000;AS_MQ=29.2541;AS_MQRankSum=1.18200;AS_pab_max=0.179688;AS_QUALapprox=77;AS_QD=1.37500;AS_ReadPosRankSum=-0.107000;AS_SB_TABLE=33,35|5,5;AS_SOR=0.637621;AS_VarDP=56;inbreeding_coeff=-3.43131e-05;AS_culprit=AS_QD;AS_VQSLOD=-3.39520;allele_type=snv;n_alt_alleles=3;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|45983|4590|1783|345|61|24|3|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|19103|20379|9098|3364|791|49|4|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0119350;cadd_phred=1.41200;phylop=0.322000;VRS_Allele_IDs=ga4gh:VA.nrYGrGmw2legu3EMwn_PRnDwAITjdzh7,ga4gh:VA.pS4HK1HdTsBRAvsJkXOS6jPtWimqncmE;VRS_Starts=5031289,5031289;VRS_Ends=5031290,5031290;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-763G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-763G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-763G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-763G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-763G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-763G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-763G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-763G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-763G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031291	.	C	A	.	AC0;AS_VQSR	AC=0;AN=104264;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=55048;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=49216;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=14936;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=12622;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=27558;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=372;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=356;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=728;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=4300;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=5306;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=9606;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1434;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1200;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2634;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1442;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1706;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=3148;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1644;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=4814;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=6458;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=96;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=108;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=204;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=29486;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=20582;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=50068;nhomalt_nfe=0;AC_raw=3;AF_raw=2.05877e-05;AN_raw=145718;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=670;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=664;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1334;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=668;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1858;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2526;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=3.95355;MQ=30.1837;MQRankSum=0.358000;QUALapprox=92;QD=2.62857;ReadPosRankSum=0.762000;SOR=0.184000;VarDP=35;AS_FS=3.95355;AS_MQ=30.1837;AS_MQRankSum=0.358000;AS_pab_max=1.00000;AS_QUALapprox=92;AS_QD=2.62857;AS_ReadPosRankSum=0.762000;AS_SB_TABLE=8,19|4,4;AS_SOR=0.184403;AS_VarDP=35;inbreeding_coeff=-2.05881e-05;AS_culprit=AS_QD;AS_VQSLOD=-3.14250;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|45406|4543|1756|338|59|25|3|2|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18832|20084|9027|3348|786|49|5|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.000478000;cadd_phred=1.33800;phylop=0.325000;VRS_Allele_IDs=ga4gh:VA.n-kM4M0Kj36gL2JNioP4iGIrvbqW9p-n,ga4gh:VA.vRZw07krOLTL1IUII6zboZVWApfzA8Lb;VRS_Starts=5031290,5031290;VRS_Ends=5031291,5031291;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-762C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-762C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-762C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-762C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-762C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-762C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-762C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-762C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-762C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031294	.	A	G	.	AC0;AS_VQSR	AC=0;AN=92016;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=48972;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=43044;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=12894;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=10882;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=23776;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=330;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=322;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=652;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3782;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4552;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=8334;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1310;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1094;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2404;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1268;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1460;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2728;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1352;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3932;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=5284;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=90;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=98;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=188;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26758;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18596;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=45354;nhomalt_nfe=0;AC_raw=1;AF_raw=7.00231e-06;AN_raw=142810;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=590;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=566;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=1156;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=598;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1542;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2140;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.28108;MQ=32.7477;MQRankSum=0.537000;QUALapprox=230;QD=4.33962;ReadPosRankSum=0.480000;SOR=0.989000;VarDP=53;AS_FS=0.00000;AS_MQ=28.8556;AS_MQRankSum=0.537000;AS_pab_max=0.687500;AS_QUALapprox=63;AS_QD=2.25000;AS_ReadPosRankSum=0.480000;AS_SB_TABLE=20,21|3,3;AS_SOR=0.647709;AS_VarDP=28;inbreeding_coeff=-7.00236e-06;AS_culprit=AS_QD;AS_VQSLOD=-3.04740;negative_train_site;allele_type=snv;n_alt_alleles=3;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|40407|3858|1406|267|50|18|2|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|15360|18055|8550|3223|766|49|4|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.185382;cadd_phred=2.95800;phylop=0.259000;VRS_Allele_IDs=ga4gh:VA.znposn3EjiuExkqlN_3W84Xs7EUK3ZSK,ga4gh:VA.blVAlZSjLdkuIuZqhY3GWQwY7Qn2ubjO;VRS_Starts=5031293,5031293;VRS_Ends=5031294,5031294;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-759A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-759A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-759A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-759A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-759A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-759A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-759A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-759A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-759A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031297	rs1342161708	T	A	.	AS_VQSR	AC=21;AN=89112;AF=0.000235658;grpmax=afr;fafmax_faf95_max=0.000580760;fafmax_faf95_max_gen_anc=afr;AC_XX=10;AF_XX=0.000210385;AN_XX=47532;nhomalt_XX=0;AC_XY=11;AF_XY=0.000264550;AN_XY=41580;nhomalt_XY=0;nhomalt=0;AC_afr_XX=10;AF_afr_XX=0.000811557;AN_afr_XX=12322;nhomalt_afr_XX=0;AC_afr_XY=10;AF_afr_XY=0.000953289;AN_afr_XY=10490;nhomalt_afr_XY=0;AC_afr=20;AF_afr=0.000876732;AN_afr=22812;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=310;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=320;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=630;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3622;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=4358;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=7980;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1266;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1074;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2340;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1212;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1398;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2610;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1298;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3720;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=5018;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=76;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=92;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=168;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=26288;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=18092;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=44380;nhomalt_nfe=0;AC_raw=38;AF_raw=0.000265861;AN_raw=142932;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=572;nhomalt_remaining_XX=0;AC_remaining_XY=1;AF_remaining_XY=0.00179211;AN_remaining_XY=558;nhomalt_remaining_XY=0;AC_remaining=1;AF_remaining=0.000884956;AN_remaining=1130;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=566;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1478;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=2044;nhomalt_sas=0;AC_grpmax=20;AF_grpmax=0.000876732;AN_grpmax=22812;nhomalt_grpmax=0;faf95=0.000157000;faf95_afr=0.000580760;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.000132000;faf99_afr=0.000485070;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=0.000485070;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=0|1|0|2|2|0|0|0|1|1;age_hist_het_n_smaller=4;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.11488;MQ=29.0976;MQRankSum=0.00000;QUALapprox=9812;QD=11.6118;ReadPosRankSum=0.0590000;SOR=0.573000;VarDP=845;AS_FS=1.11488;AS_MQ=29.0718;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=9789;AS_QD=11.7093;AS_ReadPosRankSum=0.0590000;AS_SB_TABLE=174,256|180,233;AS_SOR=0.573783;AS_VarDP=836;inbreeding_coeff=-0.000265931;AS_culprit=AS_MQ;AS_VQSLOD=-3.79930;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|1|0|2|0|17;gq_hist_all_bin_freq=0|0|0|0|39338|3547|1321|232|41|16|2|0|0|0|0|1|0|2|0|17;dp_hist_alt_bin_freq=0|0|12|8|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|15465|16928|8189|3137|744|49|4|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|1|2|1|2|4|5|1|1|2|1|0|1|0|0|0;cadd_raw_score=0.142419;cadd_phred=2.49700;phylop=0.260000;VRS_Allele_IDs=ga4gh:VA.BIRsZ7PD_rhyFM8Ucw9mMaEWPCnkOm4y,ga4gh:VA.pBYhqY_jvLAeGZHENc-fxIAvAP_pNUZ9;VRS_Starts=5031296,5031296;VRS_Ends=5031297,5031297;VRS_States=T,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-756T>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-756T>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-756T>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-756T>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-756T>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-756T>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-756T>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-756T>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-756T>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031299	rs1313414191	G	A	.	AS_VQSR	AC=1;AN=79356;AF=1.26014e-05;grpmax=nfe;AC_XX=1;AF_XX=2.35217e-05;AN_XX=42514;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=36842;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=10704;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=9090;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=19794;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=306;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=294;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=600;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3182;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=3764;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=6946;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1172;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1012;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2184;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1066;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1192;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2258;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1086;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3082;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=4168;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=78;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=82;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=160;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=4.17084e-05;AN_nfe_XX=23976;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=16612;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=2.46378e-05;AN_nfe=40588;nhomalt_nfe=0;AC_raw=2;AF_raw=1.42706e-05;AN_raw=140148;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=486;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=484;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=970;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=458;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1230;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1688;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=2.46378e-05;AN_grpmax=40588;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.44649e-15;MQ=33.0651;MQRankSum=0.751000;QUALapprox=334;QD=6.18518;ReadPosRankSum=-0.751000;SOR=0.657000;VarDP=54;AS_FS=1.65043;AS_MQ=28.4938;AS_MQRankSum=-0.198000;AS_pab_max=0.774414;AS_QUALapprox=151;AS_QD=7.94737;AS_ReadPosRankSum=1.49500;AS_SB_TABLE=17,23|4,3;AS_SOR=0.753772;AS_VarDP=19;inbreeding_coeff=-1.42708e-05;AS_culprit=AS_MQ;AS_VQSLOD=-2.88190;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|35040|3210|1182|196|34|13|1|1|0|0|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|12930|15235|7723|3014|721|50|4|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.237353;cadd_phred=0.424000;phylop=-0.616000;VRS_Allele_IDs=ga4gh:VA.fLD88FjNq3pYZuN3LgdTGH1J9MgmF8bg,ga4gh:VA.9I_Z0XJeG0xLDtqjCL4JKpaxoxfV6BRj;VRS_Starts=5031298,5031298;VRS_Ends=5031299,5031299;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-754G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-754G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-754G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-754G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-754G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-754G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-754G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-754G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-754G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031299	.	G	T	.	AC0;AS_VQSR	AC=0;AN=79356;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=42514;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=36842;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=10704;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=9090;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=19794;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=306;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=294;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=600;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3182;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=3764;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=6946;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1172;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1012;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2184;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1066;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1192;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2258;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1086;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=3082;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=4168;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=78;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=82;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=160;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=23976;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=16612;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=40588;nhomalt_nfe=0;AC_raw=2;AF_raw=1.42706e-05;AN_raw=140148;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=486;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=484;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=970;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=458;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1230;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1688;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.44649e-15;MQ=33.0651;MQRankSum=0.751000;QUALapprox=334;QD=6.18518;ReadPosRankSum=-0.751000;SOR=0.657000;VarDP=54;AS_FS=0.00000;AS_MQ=37.6673;AS_MQRankSum=0.751000;AS_pab_max=1.00000;AS_QUALapprox=153;AS_QD=6.95455;AS_ReadPosRankSum=-0.762000;AS_SB_TABLE=17,23|2,3;AS_SOR=0.693147;AS_VarDP=22;inbreeding_coeff=-1.42708e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.01680;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|35040|3210|1182|196|34|13|1|1|0|0|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|12930|15235|7723|3014|721|50|4|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.286206;cadd_phred=0.333000;phylop=-0.616000;VRS_Allele_IDs=ga4gh:VA.fLD88FjNq3pYZuN3LgdTGH1J9MgmF8bg,ga4gh:VA.SIDMkBmR-tWV6j5wCxzR3fTY6Jb7Tmnf;VRS_Starts=5031298,5031298;VRS_Ends=5031299,5031299;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-754G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-754G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-754G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-754G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-754G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-754G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-754G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-754G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-754G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031301	.	A	G	.	AC0;AS_VQSR	AC=0;AN=78618;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=42150;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=36468;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=10548;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=8974;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=19522;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=294;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=294;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=588;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3156;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=3760;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=6916;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1192;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1008;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2200;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1062;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1188;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2250;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1090;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2970;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=4060;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=80;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=78;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=158;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=23792;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=16474;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=40266;nhomalt_nfe=0;AC_raw=3;AF_raw=2.14427e-05;AN_raw=139908;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=478;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=490;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=968;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=458;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1232;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1690;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=6.34715;MQ=31.1054;MQRankSum=0.00000;QUALapprox=334;QD=4.84058;ReadPosRankSum=-0.107000;SOR=0.215000;VarDP=69;AS_FS=1.96616;AS_MQ=32.1947;AS_MQRankSum=-0.118000;AS_pab_max=0.179688;AS_QUALapprox=91;AS_QD=3.25000;AS_ReadPosRankSum=-0.747000;AS_SB_TABLE=16,38|2,3;AS_SOR=0.291019;AS_VarDP=28;inbreeding_coeff=-2.14431e-05;AS_culprit=AS_QD;AS_VQSLOD=-3.95810;negative_train_site;allele_type=snv;n_alt_alleles=3;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|34996|2987|1105|179|32|9|1|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|13241|14828|7519|2953|714|49|4|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.116688;cadd_phred=0.766000;phylop=-0.819000;VRS_Allele_IDs=ga4gh:VA.uoUk6EF_yxxlMPuH1rdSmnQrDJOt2xKD,ga4gh:VA.SMpUvVcPkCrt5jYqH5Z3FuJM6-cL3rWx;VRS_Starts=5031300,5031300;VRS_Ends=5031301,5031301;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-752A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-752A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-752A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-752A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-752A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-752A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-752A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-752A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-752A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031301	.	AT	A	.	AC0;AS_VQSR	AC=0;AN=78616;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=42148;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=36468;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=10548;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=8974;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=19522;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=294;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=294;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=588;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3156;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=3760;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=6916;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1192;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=1008;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2200;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1062;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1188;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2250;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1090;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2970;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=4060;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=80;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=78;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=158;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=23790;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=16474;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=40264;nhomalt_nfe=0;AC_raw=1;AF_raw=7.14755e-06;AN_raw=139908;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=478;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=490;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=968;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=458;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1232;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1690;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=6.34715;MQ=31.1054;MQRankSum=0.00000;QUALapprox=334;QD=4.84058;ReadPosRankSum=-0.107000;SOR=0.215000;VarDP=69;AS_FS=3.78413;AS_MQ=29.3300;AS_MQRankSum=0.00000;AS_pab_max=0.687500;AS_QUALapprox=171;AS_QD=4.88571;AS_ReadPosRankSum=0.825000;AS_SB_TABLE=16,38|4,4;AS_SOR=0.173959;AS_VarDP=35;inbreeding_coeff=-7.14761e-06;AS_culprit=AS_FS;AS_VQSLOD=-1.51240;negative_train_site;allele_type=del;n_alt_alleles=3;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|34996|2987|1104|179|32|9|1|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|13240|14828|7519|2953|714|49|4|1|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.159837;cadd_phred=0.622000;phylop=-0.819000;VRS_Allele_IDs=ga4gh:VA.DRs-qgevHZIU3iAIPhavhfqHquYx-jm2,ga4gh:VA.8eJCUBtebg5lPWVf5jPxYbFfCL0ZktNT;VRS_Starts=5031300,5031301;VRS_Ends=5031302,5031306;VRS_States=AT,TTTT;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-747del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-747del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-747del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-747del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-747del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-747del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-747del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-747del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-747del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031303	.	T	C	.	AC0;AS_VQSR	AC=0;AN=75106;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=40366;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=34740;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=9994;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=8502;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=18496;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=286;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=292;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=578;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=3006;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=3538;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=6544;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1132;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=968;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=2100;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=1032;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=1122;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=2154;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1020;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2770;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=3790;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=74;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=78;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=152;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=22918;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=15882;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=38800;nhomalt_nfe=0;AC_raw=2;AF_raw=1.42537e-05;AN_raw=140314;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=464;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=434;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=898;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=440;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1154;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1594;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=3.87553;MQ=27.8446;MQRankSum=-0.354000;QUALapprox=94;QD=2.76471;ReadPosRankSum=0.00000;SOR=0.202000;VarDP=34;AS_FS=3.87553;AS_MQ=27.8446;AS_MQRankSum=-0.354000;AS_pab_max=0.687500;AS_QUALapprox=94;AS_QD=2.76471;AS_ReadPosRankSum=0.00000;AS_SB_TABLE=8,18|4,4;AS_SOR=0.202432;AS_VarDP=34;inbreeding_coeff=-1.42539e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.92140;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|33357|2918|1058|179|31|9|1|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|12785|13890|7235|2884|706|49|4|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.173925;cadd_phred=2.83200;phylop=0.260000;VRS_Allele_IDs=ga4gh:VA.ANcNCn6RtBLyOb5lFBW4pD6w3oEhl0mu,ga4gh:VA.VV11tPsGiHPx-uAzwx9n3PDcfIfXEfVO;VRS_Starts=5031302,5031302;VRS_Ends=5031303,5031303;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-750T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-750T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-750T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-750T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-750T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-750T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-750T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-750T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-750T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031307	.	A	T	.	AC0;AS_VQSR	AC=0;AN=62750;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=33888;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=28862;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=8002;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=6748;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=14750;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=250;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=256;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=506;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2434;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2868;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=5302;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=1018;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=836;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1854;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=858;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=896;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1754;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=780;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2136;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2916;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=54;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=66;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=120;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=19762;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=13820;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=33582;nhomalt_nfe=0;AC_raw=1;AF_raw=7.31122e-06;AN_raw=136776;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=390;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=362;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=752;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=340;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=874;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1214;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=8.56634;MQ=34.9148;MQRankSum=-0.922000;QUALapprox=157;QD=6.54167;ReadPosRankSum=-0.720000;SOR=0.0610000;VarDP=24;AS_FS=6.78106;AS_MQ=32.0491;AS_MQRankSum=-0.922000;AS_pab_max=0.687500;AS_QUALapprox=100;AS_QD=7.69231;AS_ReadPosRankSum=0.198000;AS_SB_TABLE=3,15|2,2;AS_SOR=0.0606246;AS_VarDP=13;inbreeding_coeff=-7.31128e-06;AS_culprit=AS_MQ;AS_VQSLOD=-3.98350;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|27686|2595|920|138|25|10|1|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10173|11464|6353|2664|670|47|4|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.103686;cadd_phred=2.12400;phylop=0.245000;VRS_Allele_IDs=ga4gh:VA.YPTaBe83a-dk6l-jyARo5uDZ_aqqKI8L,ga4gh:VA.FitJWD5Z-_4_FFhbtZ-9T0adRkRwsBY5;VRS_Starts=5031306,5031306;VRS_Ends=5031307,5031307;VRS_States=A,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-746A>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-746A>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-746A>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-746A>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-746A>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-746A>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-746A>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-746A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-746A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031310	.	A	G	.	AC0;AS_VQSR	AC=0;AN=60484;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=32786;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=27698;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=7738;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=6440;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=14178;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=244;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=250;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=494;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2292;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2760;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=5052;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=976;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=814;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1790;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=822;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=856;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1678;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=756;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1990;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2746;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=54;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=68;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=122;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=19198;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=13356;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=32554;nhomalt_nfe=0;AC_raw=3;AF_raw=2.18988e-05;AN_raw=136994;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=384;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=352;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=736;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=322;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=812;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1134;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=2.86715;MQ=29.0426;MQRankSum=-0.0990000;QUALapprox=123;QD=2.15789;ReadPosRankSum=0.572000;SOR=0.326000;VarDP=57;AS_FS=3.02711;AS_MQ=29.4625;AS_MQRankSum=-0.0990000;AS_pab_max=0.289063;AS_QUALapprox=98;AS_QD=2.00000;AS_ReadPosRankSum=0.0670000;AS_SB_TABLE=17,28|5,5;AS_SOR=0.325885;AS_VarDP=49;inbreeding_coeff=-2.18992e-05;AS_culprit=AS_QD;AS_VQSLOD=-3.44360;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|26721|2462|892|130|28|8|1|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10243|10744|6022|2539|648|42|4|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.146106;cadd_phred=2.53500;phylop=0.245000;VRS_Allele_IDs=ga4gh:VA.d7h68jKonzP5hSmTIztNePf7UzzqToiL,ga4gh:VA.fXrwAEU8tZ-VYArrtfqFLwBSKBKkbGiT;VRS_Starts=5031309,5031309;VRS_Ends=5031310,5031310;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-743A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-743A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-743A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-743A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-743A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-743A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-743A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-743A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-743A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031312	rs1987124209	A	C	.	AC0;AS_VQSR	AC=0;AN=56922;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=30966;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=25956;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=7260;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=5984;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=13244;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=234;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=236;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=470;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2126;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2562;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=4688;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=924;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=774;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1698;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=788;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=808;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1596;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=684;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1784;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2468;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=50;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=64;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=114;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=18260;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=12680;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=30940;nhomalt_nfe=0;AC_raw=1;AF_raw=7.34570e-06;AN_raw=136134;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=342;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=310;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=652;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=298;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=754;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1052;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.68561;MQ=28.1120;MQRankSum=0.727000;QUALapprox=184;QD=4.38095;ReadPosRankSum=0.107000;SOR=0.321000;VarDP=42;AS_FS=0.00000;AS_MQ=25.6320;AS_MQRankSum=0.727000;AS_pab_max=0.625000;AS_QUALapprox=76;AS_QD=19.0000;AS_ReadPosRankSum=0.727000;AS_SB_TABLE=7,25|0,3;AS_SOR=0.922190;AS_VarDP=4;inbreeding_coeff=-7.34576e-06;AS_culprit=AS_MQ;AS_VQSLOD=-4.52700;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|25102|2347|858|121|24|8|1|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9731|9946|5697|2417|624|42|4|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.117173;cadd_phred=2.24900;phylop=0.245000;VRS_Allele_IDs=ga4gh:VA.2o-Q2saibgPfLp8Bh4KsBkYj0lNSlxuG,ga4gh:VA.h9YeY3G5Q2Wjt6-GP8bchAscxVVuW94C;VRS_Starts=5031311,5031311;VRS_Ends=5031312,5031312;VRS_States=A,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-741A>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-741A>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-741A>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-741A>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-741A>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-741A>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-741A>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-741A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-741A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031313	rs1390592325	G	A	.	AS_VQSR	AC=1;AN=55060;AF=1.81620e-05;grpmax=nfe;AC_XX=0;AF_XX=0.00000;AN_XX=29938;nhomalt_XX=0;AC_XY=1;AF_XY=3.98057e-05;AN_XY=25122;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=6950;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=5810;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=12760;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=222;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=240;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=462;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2018;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2458;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=4476;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=902;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=762;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1664;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=754;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=778;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1532;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=658;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1692;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2350;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=46;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=60;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=106;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=17772;nhomalt_nfe_XX=0;AC_nfe_XY=1;AF_nfe_XY=8.13273e-05;AN_nfe_XY=12296;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=3.32579e-05;AN_nfe=30068;nhomalt_nfe=0;AC_raw=6;AF_raw=4.41579e-05;AN_raw=135876;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=334;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=308;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=642;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=282;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=718;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1000;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=3.32579e-05;AN_grpmax=30068;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=2.77851;MQ=29.2506;MQRankSum=0.720000;QUALapprox=631;QD=13.7174;ReadPosRankSum=0.555000;SOR=1.20100;VarDP=46;AS_FS=2.77851;AS_MQ=29.2506;AS_MQRankSum=0.720000;AS_pab_max=1.00000;AS_QUALapprox=631;AS_QD=13.7174;AS_ReadPosRankSum=0.555000;AS_SB_TABLE=7,14|6,19;AS_SOR=1.20057;AS_VarDP=46;inbreeding_coeff=0.333304;AS_culprit=AS_MQ;AS_VQSLOD=-3.43420;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|24244|2309|832|111|24|8|1|0|0|0|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9457|9543|5508|2364|613|41|4|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0161060;cadd_phred=1.43900;phylop=0.304000;VRS_Allele_IDs=ga4gh:VA.KdtcwYNOJ4MsJlFs7jJuxFIE-OYx5FbW,ga4gh:VA.-hlV7H9FNm9anMB6UFLLwQzTke_63h5O;VRS_Starts=5031312,5031312;VRS_Ends=5031313,5031313;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-740G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-740G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-740G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-740G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-740G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-740G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-740G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-740G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-740G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031317	rs1374475838	A	G	.	AC0;AS_VQSR	AC=0;AN=45574;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=24948;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=20626;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5544;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4546;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=10090;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=192;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=186;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=378;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1644;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1934;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=3578;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=764;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=660;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1424;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=598;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=630;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1228;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=516;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1314;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1830;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=34;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=40;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=74;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=15150;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=10512;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=25662;nhomalt_nfe=0;AC_raw=2;AF_raw=1.51334e-05;AN_raw=132158;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=290;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=232;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=522;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=216;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=572;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=788;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=30.8565;MQRankSum=0.322000;QUALapprox=338;QD=8.66667;ReadPosRankSum=0.00000;SOR=0.620000;VarDP=39;AS_FS=0.00000;AS_MQ=30.8565;AS_MQRankSum=0.322000;AS_pab_max=0.726563;AS_QUALapprox=338;AS_QD=8.66667;AS_ReadPosRankSum=0.00000;AS_SB_TABLE=7,18|4,10;AS_SOR=0.619533;AS_VarDP=39;inbreeding_coeff=-1.51336e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.39540;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|19978|1986|710|81|19|6|1|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|7942|7548|4639|2079|533|36|4|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.159918;cadd_phred=2.68000;phylop=-0.668000;VRS_Allele_IDs=ga4gh:VA.qhAOEUhDli5sSjX2adyFZd-enToz0877,ga4gh:VA.6OUlDZnmMKFXSh2UKdfBZnHQgC6jv9jd;VRS_Starts=5031316,5031316;VRS_Ends=5031317,5031317;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-736A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-736A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-736A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-736A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-736A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-736A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-736A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-736A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-736A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031318	rs1987124341	G	A	.	AC0;AS_VQSR	AC=0;AN=45782;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=25114;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=20668;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5616;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4560;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=10176;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=190;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=190;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=380;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1652;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1946;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=3598;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=782;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=664;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1446;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=602;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=636;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1238;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=516;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1300;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1816;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=36;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=40;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=76;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=15218;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=10528;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=25746;nhomalt_nfe=0;AC_raw=1;AF_raw=7.52253e-06;AN_raw=132934;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=286;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=226;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=512;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=216;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=578;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=794;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=2.94868;MQ=29.5731;MQRankSum=0.736000;QUALapprox=447;QD=10.1591;ReadPosRankSum=0.736000;SOR=1.27000;VarDP=44;AS_FS=3.21743;AS_MQ=30.0854;AS_MQRankSum=0.736000;AS_pab_max=1.00000;AS_QUALapprox=415;AS_QD=10.9211;AS_ReadPosRankSum=0.736000;AS_SB_TABLE=8,17|3,14;AS_SOR=1.50754;AS_VarDP=38;inbreeding_coeff=-7.52259e-06;AS_culprit=AS_MQ;AS_VQSLOD=-3.18240;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|20111|1974|699|83|17|6|1|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|8245|7457|4565|2060|525|35|4|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.00658900;cadd_phred=1.37700;phylop=0.304000;VRS_Allele_IDs=ga4gh:VA.QyF27XJf33l40KbUjn3EWNLrZO4ad_13,ga4gh:VA.UkVvrLnm_g5wG8TTd212r75waxeylBey;VRS_Starts=5031317,5031317;VRS_Ends=5031318,5031318;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-735G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-735G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-735G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-735G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-735G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-735G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-735G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-735G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-735G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031323	rs1987124386	C	A	.	AC0;AS_VQSR	AC=0;AN=36958;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=20490;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=16468;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=4292;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=3470;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=7762;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=168;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=162;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=330;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1298;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1466;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2764;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=656;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=552;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1208;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=484;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=500;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=984;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=428;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=970;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1398;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=20;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=38;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=58;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=12748;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=8706;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=21454;nhomalt_nfe=0;AC_raw=1;AF_raw=7.72833e-06;AN_raw=129394;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=224;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=172;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=396;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=172;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=432;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=604;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=15.3148;MQ=27.3893;MQRankSum=0.0670000;QUALapprox=167;QD=9.82353;ReadPosRankSum=0.0670000;SOR=0.0100000;VarDP=17;AS_FS=15.3148;AS_MQ=27.3893;AS_MQRankSum=0.0670000;AS_pab_max=0.289063;AS_QUALapprox=167;AS_QD=9.82353;AS_ReadPosRankSum=0.0670000;AS_SB_TABLE=0,9|4,4;AS_SOR=0.00995033;AS_VarDP=17;inbreeding_coeff=-7.72839e-06;AS_culprit=AS_MQ;AS_VQSLOD=-5.74410;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|16040|1701|644|76|13|5|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|6842|5733|3683|1723|461|33|4|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0202960;cadd_phred=1.21300;phylop=-1.74200;VRS_Allele_IDs=ga4gh:VA.LwEt0pjkj-oYgwZzSwOdKstDp0RlAHzZ,ga4gh:VA.LfVEjcin0YcsxOtSya7294liUSgTQ0l-;VRS_Starts=5031322,5031322;VRS_Ends=5031323,5031323;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-730C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-730C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-730C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-730C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-730C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-730C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-730C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-730C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-730C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031324	.	T	C	.	AC0;AS_VQSR	AC=0;AN=35394;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=19620;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=15774;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=4064;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=3276;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=7340;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=164;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=156;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=320;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1234;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1368;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2602;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=630;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=526;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1156;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=468;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=480;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=948;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=408;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=940;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1348;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=16;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=30;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=46;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=12270;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=8416;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=20686;nhomalt_nfe=0;AC_raw=1;AF_raw=7.77291e-06;AN_raw=128652;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=208;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=166;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=374;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=158;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=416;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=574;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=13.8627;MQ=28.6906;MQRankSum=0.720000;QUALapprox=210;QD=5.25000;ReadPosRankSum=0.00000;SOR=0.712000;VarDP=40;AS_FS=8.22065;AS_MQ=27.0000;AS_MQRankSum=0.720000;AS_pab_max=0.687500;AS_QUALapprox=75;AS_QD=3.12500;AS_ReadPosRankSum=0.00000;AS_SB_TABLE=6,24|3,3;AS_SOR=0.0754785;AS_VarDP=24;inbreeding_coeff=-7.77297e-06;AS_culprit=AS_MQ;AS_VQSLOD=-4.26120;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|15323|1672|620|66|13|3|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|6557|5465|3532|1661|447|31|4|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.168231;cadd_phred=2.76900;phylop=0.245000;VRS_Allele_IDs=ga4gh:VA.Ame0U1q1-X1tqtHQwMUQXMQfFKf_5Jaf,ga4gh:VA.IE5jJBtJwRnQ2eMipAQFjKqtK8Kdbfsp;VRS_Starts=5031323,5031323;VRS_Ends=5031324,5031324;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-729T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-729T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-729T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-729T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-729T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-729T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-729T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-729T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-729T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031328	rs1987124468	T	C	.	AS_VQSR	AC=1;AN=29786;AF=3.35728e-05;grpmax=amr;AC_XX=0;AF_XX=0.00000;AN_XX=16662;nhomalt_XX=0;AC_XY=1;AF_XY=7.61963e-05;AN_XY=13124;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=3368;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2644;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=6012;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=136;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=128;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=264;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=974;nhomalt_amr_XX=0;AC_amr_XY=1;AF_amr_XY=0.000915751;AN_amr_XY=1092;nhomalt_amr_XY=0;AC_amr=1;AF_amr=0.000484027;AN_amr=2066;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=546;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=474;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1020;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=368;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=410;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=778;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=370;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=744;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1114;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=10;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=30;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=40;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=10576;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=7146;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=17722;nhomalt_nfe=0;AC_raw=5;AF_raw=3.96662e-05;AN_raw=126052;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=176;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=136;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=312;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=138;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=320;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=458;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000484027;AN_grpmax=2066;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=8.50184;MQ=28.2226;MQRankSum=-0.361000;QUALapprox=1719;QD=13.3256;ReadPosRankSum=-0.198000;SOR=0.150000;VarDP=129;AS_FS=8.50184;AS_MQ=28.2226;AS_MQRankSum=-0.361000;AS_pab_max=1.00000;AS_QUALapprox=1719;AS_QD=13.3256;AS_ReadPosRankSum=-0.198000;AS_SB_TABLE=3,55|10,61;AS_SOR=0.150216;AS_VarDP=129;inbreeding_coeff=0.399976;AS_culprit=AS_MQ;AS_VQSLOD=-5.31740;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|12608|1600|597|62|17|3|0|0|0|0|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|5506|4510|2994|1445|405|26|2|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.154356;cadd_phred=2.62100;phylop=-0.824000;VRS_Allele_IDs=ga4gh:VA.7KcyNtq6f9E9BmDQEc16G6qVPwuvlxCX,ga4gh:VA.a3QHxS_rEDQb_z39DXIfYIhWEFPuNJzt;VRS_Starts=5031327,5031327;VRS_Ends=5031328,5031328;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-725T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-725T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-725T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-725T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-725T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-725T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-725T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-725T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-725T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031333	.	G	T	.	AC0;AS_VQSR	AC=0;AN=26742;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=15052;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=11690;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=3008;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2362;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=5370;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=130;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=108;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=238;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=856;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=948;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=1804;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=492;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=432;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=924;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=352;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=382;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=734;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=334;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=644;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=978;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=6;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=28;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=34;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=9584;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=6392;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=15976;nhomalt_nfe=0;AC_raw=2;AF_raw=1.59737e-05;AN_raw=125206;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=156;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=112;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=268;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=134;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=282;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=416;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=10.5715;MQ=27.2044;MQRankSum=-0.493000;QUALapprox=134;QD=3.43590;ReadPosRankSum=-0.888000;SOR=0.0420000;VarDP=39;AS_FS=7.51789;AS_MQ=27.3060;AS_MQRankSum=-0.493000;AS_pab_max=0.0654297;AS_QUALapprox=123;AS_QD=4.73077;AS_ReadPosRankSum=-0.888000;AS_SB_TABLE=3,28|2,4;AS_SOR=0.0514981;AS_VarDP=26;inbreeding_coeff=-1.59739e-05;AS_culprit=AS_MQ;AS_VQSLOD=-5.29570;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|11143|1553|597|61|13|4|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|5081|3978|2625|1297|366|24|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0411690;cadd_phred=1.09800;phylop=0.304000;VRS_Allele_IDs=ga4gh:VA.f77k4HH3wWA4z8RxqkzkhjIi7TYxJ0Z5,ga4gh:VA.2POsNYYvS0icDc2rG64HAazXSKEVYIgp;VRS_Starts=5031332,5031332;VRS_Ends=5031333,5031333;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-720G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-720G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-720G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-720G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-720G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-720G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-720G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-720G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-720G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031335	rs1333126576	CA	C	.	AS_VQSR	AC=1;AN=26190;AF=3.81825e-05;grpmax=nfe;AC_XX=1;AF_XX=6.76315e-05;AN_XX=14786;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=11404;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=2934;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2304;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=5238;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=124;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=110;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=234;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=830;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=924;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=1754;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=480;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=426;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=906;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=352;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=360;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=712;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=326;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=628;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=954;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=8;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=32;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=40;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=0.000105887;AN_nfe_XX=9444;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=6244;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=6.37430e-05;AN_nfe=15688;nhomalt_nfe=0;AC_raw=1;AF_raw=7.94105e-06;AN_raw=125928;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=152;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=106;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=258;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=136;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=270;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=406;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=6.37430e-05;AN_grpmax=15688;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=4.39333;MQ=29.7041;MQRankSum=0.597000;QUALapprox=234;QD=21.2727;ReadPosRankSum=-0.278000;SOR=2.83300;VarDP=11;AS_FS=4.39333;AS_MQ=29.7041;AS_MQRankSum=0.597000;AS_pab_max=0.548828;AS_QUALapprox=234;AS_QD=21.2727;AS_ReadPosRankSum=-0.278000;AS_SB_TABLE=1,3|0,7;AS_SOR=2.83321;AS_VarDP=11;inbreeding_coeff=-7.94111e-06;AS_culprit=AS_FS;AS_VQSLOD=-1.97860;negative_train_site;allele_type=del;n_alt_alleles=1;variant_type=indel;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|10877|1534|601|66|12|4|0|0|0|0|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|5058|3876|2541|1250|348|22|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0;cadd_raw_score=-0.167529;cadd_phred=0.599000;phylop=0.306000;VRS_Allele_IDs=ga4gh:VA.Y9GEJneimXa2FJenZkW2N4jltzU-D94F,ga4gh:VA.1ZxX9ItH6mDb5Gy2OWr1UnpIIURANr_X;VRS_Starts=5031334,5031335;VRS_Ends=5031336,5031336;VRS_States=CA,;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-717del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-717del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-717del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-717del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-717del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-717del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-717del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-717del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-717del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031340	rs1465771304	G	A	.	AS_VQSR	AC=17;AN=24700;AF=0.000688259;grpmax=nfe;fafmax_faf95_max=0.000676770;fafmax_faf95_max_gen_anc=nfe;AC_XX=10;AF_XX=0.000715001;AN_XX=13986;nhomalt_XX=0;AC_XY=7;AF_XY=0.000653351;AN_XY=10714;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=2740;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2202;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=4942;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=110;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=102;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=212;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=774;nhomalt_amr_XX=0;AC_amr_XY=1;AF_amr_XY=0.00116279;AN_amr_XY=860;nhomalt_amr_XY=0;AC_amr=1;AF_amr=0.000611995;AN_amr=1634;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=460;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=390;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=850;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=344;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=334;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=678;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=322;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=580;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=902;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=4;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=28;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=32;nhomalt_mid=0;AC_nfe_XX=10;AF_nfe_XX=0.00111782;AN_nfe_XX=8946;nhomalt_nfe_XX=0;AC_nfe_XY=6;AF_nfe_XY=0.00102284;AN_nfe_XY=5866;nhomalt_nfe_XY=0;AC_nfe=16;AF_nfe=0.00108021;AN_nfe=14812;nhomalt_nfe=0;AC_raw=121;AF_raw=0.000958887;AN_raw=126188;nhomalt_raw=15;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=152;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=100;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=252;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=134;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=252;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=386;nhomalt_sas=0;AC_grpmax=16;AF_grpmax=0.00108021;AN_grpmax=14812;nhomalt_grpmax=0;faf95=0.000437610;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.000676770;faf95_sas=0.00000;faf99=0.000359700;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.000552020;faf99_sas=0.00000;fafmax_faf99_max=0.000552020;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|2|2|0|1|2|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.04811;MQ=27.4116;MQRankSum=0.00000;QUALapprox=27606;QD=16.3640;ReadPosRankSum=0.00000;SOR=0.505000;VarDP=1687;AS_FS=1.04811;AS_MQ=27.4116;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=27606;AS_QD=16.3640;AS_ReadPosRankSum=0.00000;AS_SB_TABLE=46,617|87,937;AS_SOR=0.505094;AS_VarDP=1687;inbreeding_coeff=0.247212;AS_culprit=AS_MQ;AS_VQSLOD=-4.53550;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|1|0|1|1|0|4|0|0|0|0|2|8;gq_hist_all_bin_freq=0|0|0|0|10145|1518|592|62|11|2|1|1|0|4|0|0|0|0|2|8;dp_hist_alt_bin_freq=0|0|16|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|5027|3564|2287|1139|309|20|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|3|1|2|1|1|0|4|3|1|0|1|0|0|0;cadd_raw_score=0.0160320;cadd_phred=1.43900;phylop=-1.66300;VRS_Allele_IDs=ga4gh:VA.EvNCPd_-YsEzmAzZucUnvSUTotG1WyYM,ga4gh:VA.L-2ASuueJZA_QaHF_m7wYGifQsbJis7t;VRS_Starts=5031339,5031339;VRS_Ends=5031340,5031340;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-713G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-713G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-713G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-713G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-713G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-713G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-713G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-713G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-713G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031356	rs1393311948	A	G	.	AS_VQSR	AC=1;AN=21434;AF=4.66548e-05;grpmax=afr;AC_XX=1;AF_XX=8.13405e-05;AN_XX=12294;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=9140;nhomalt_XY=0;nhomalt=0;AC_afr_XX=1;AF_afr_XX=0.000405186;AN_afr_XX=2468;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=1904;nhomalt_afr_XY=0;AC_afr=1;AF_afr=0.000228728;AN_afr=4372;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=88;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=102;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=190;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=700;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=756;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=1456;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=412;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=370;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=782;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=290;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=326;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=616;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=236;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=482;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=718;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=16;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=22;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=38;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=7804;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4862;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=12666;nhomalt_nfe=0;AC_raw=5;AF_raw=3.96693e-05;AN_raw=126042;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=134;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=94;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=228;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=146;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=222;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=368;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000228728;AN_grpmax=4372;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=9.55983;MQ=27.0430;MQRankSum=0.406000;QUALapprox=3357;QD=13.7020;ReadPosRankSum=0.727000;SOR=0.126000;VarDP=245;AS_FS=9.63231;AS_MQ=27.0443;AS_MQRankSum=0.406000;AS_pab_max=1.00000;AS_QUALapprox=3328;AS_QD=13.9832;AS_ReadPosRankSum=0.727000;AS_SB_TABLE=2,112|8,121;AS_SOR=0.121788;AS_VarDP=238;inbreeding_coeff=-3.96709e-05;AS_culprit=AS_MQ;AS_VQSLOD=-5.33010;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|0;gq_hist_all_bin_freq=0|0|0|0|8612|1348|684|65|6|1|0|0|0|0|0|0|0|1|0|0;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|5860|2548|1442|689|170|8|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.177140;cadd_phred=2.86700;phylop=0.0750000;VRS_Allele_IDs=ga4gh:VA.AAZT8_F3L2so5VZyRhPgYMiEKXZgYutN,ga4gh:VA.yQfDlsHBQnQU397-JAD4POH1Ohj9J5hs;VRS_Starts=5031355,5031355;VRS_Ends=5031356,5031356;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-697A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-697A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-697A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-697A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-697A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-697A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-697A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-697A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-697A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031373	rs1987124637	C	T	.	AC0;AS_VQSR	AC=0;AN=22484;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=12926;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=9558;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=2724;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2044;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=4768;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=90;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=96;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=186;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=722;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=812;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=1534;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=412;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=396;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=808;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=338;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=344;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=682;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=220;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=484;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=704;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=22;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=22;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=44;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8120;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4994;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=13114;nhomalt_nfe=0;AC_raw=2;AF_raw=1.52774e-05;AN_raw=130912;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=132;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=102;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=234;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=146;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=264;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=410;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=26.8757;MQRankSum=-1.53500;QUALapprox=580;QD=13.4884;ReadPosRankSum=-0.578000;SOR=0.739000;VarDP=43;AS_FS=.;AS_MQ=26.8757;AS_MQRankSum=-1.53500;AS_pab_max=0.749259;AS_QUALapprox=580;AS_QD=13.4884;AS_ReadPosRankSum=-0.578000;AS_SB_TABLE=0,21|0,22;AS_SOR=0.738587;AS_VarDP=43;inbreeding_coeff=1.00000;AS_culprit=AS_MQ;AS_VQSLOD=-4.43070;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|8918|1471|758|85|6|4|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|7333|2194|1080|509|121|5|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.00937800;cadd_phred=1.39500;phylop=-1.74600;VRS_Allele_IDs=ga4gh:VA.WxUL6SIHYY6ZIu0mNNtRaMTQG8PuZwds,ga4gh:VA.7u5BVWtie1S94_sBCzKk154KVtV5LmKx;VRS_Starts=5031372,5031372;VRS_Ends=5031373,5031373;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-680C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-680C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-680C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-680C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-680C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-680C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-680C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-680C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-680C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031374	rs1160915308	G	A	.	AS_VQSR	AC=1;AN=22524;AF=4.43971e-05;AC_XX=0;AF_XX=0.00000;AN_XX=12944;nhomalt_XX=0;AC_XY=1;AF_XY=0.000104384;AN_XY=9580;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=2724;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2058;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=4782;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=90;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=94;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=184;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=728;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=824;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=1552;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=416;nhomalt_asj_XX=0;AC_asj_XY=1;AF_asj_XY=0.00259067;AN_asj_XY=386;nhomalt_asj_XY=0;AC_asj=1;AF_asj=0.00124688;AN_asj=802;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=346;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=342;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=688;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=216;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=484;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=700;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=22;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=22;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=44;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8124;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4998;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=13122;nhomalt_nfe=0;AC_raw=8;AF_raw=6.09868e-05;AN_raw=131176;nhomalt_raw=2;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=130;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=106;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=236;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=148;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=266;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=414;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|1|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=7.47781;MQ=27.1516;MQRankSum=0.143000;QUALapprox=1123;QD=14.9733;ReadPosRankSum=0.406000;SOR=2.95100;VarDP=75;AS_FS=6.99845;AS_MQ=27.1793;AS_MQRankSum=0.143000;AS_pab_max=1.00000;AS_QUALapprox=1029;AS_QD=16.0781;AS_ReadPosRankSum=0.406000;AS_SB_TABLE=2,30|0,39;AS_SOR=2.77161;AS_VarDP=64;inbreeding_coeff=0.499970;AS_culprit=AS_SOR;AS_VQSLOD=-6.32790;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|8933|1467|759|86|6|4|0|0|0|0|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|7383|2177|1070|502|120|4|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0222130;cadd_phred=1.20200;phylop=0.0910000;VRS_Allele_IDs=ga4gh:VA.PmtFy7JVilZBNfqKu-oFwxOOwmN-wEWa,ga4gh:VA.KDDND8CTGepPdXpMja-GicfRS0HUv00h;VRS_Starts=5031373,5031373;VRS_Ends=5031374,5031374;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-679G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-679G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-679G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-679G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-679G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-679G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-679G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-679G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-679G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031380	.	G	A	.	AC0;AS_VQSR	AC=0;AN=22682;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=13100;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=9582;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=2774;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2088;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=4862;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=86;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=94;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=180;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=766;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=832;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=1598;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=412;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=402;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=814;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=358;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=362;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=720;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=226;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=466;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=692;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=22;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=18;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=40;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8164;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4938;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=13102;nhomalt_nfe=0;AC_raw=3;AF_raw=2.27974e-05;AN_raw=131594;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=130;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=108;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=238;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=162;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=274;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=436;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=27.5093;MQRankSum=-0.736000;QUALapprox=601;QD=28.6190;ReadPosRankSum=-0.736000;SOR=1.80200;VarDP=21;AS_FS=0.00000;AS_MQ=27.5093;AS_MQRankSum=-0.736000;AS_pab_max=1.00000;AS_QUALapprox=601;AS_QD=28.6190;AS_ReadPosRankSum=-0.736000;AS_SB_TABLE=0,1|3,17;AS_SOR=1.80212;AS_VarDP=21;inbreeding_coeff=0.666659;AS_culprit=AS_MQ;AS_VQSLOD=-5.46750;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|8957|1498|777|88|6|4|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|7674|2102|986|456|108|4|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0560790;cadd_phred=1.02300;phylop=0.0910000;VRS_Allele_IDs=ga4gh:VA.f-NCO_1crs4fqHxuzRycseRxDIMsNJwT,ga4gh:VA.OaIlbEVjIWRE6cNYfJdGyw0TqO2fWaYA;VRS_Starts=5031379,5031379;VRS_Ends=5031380,5031380;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-673G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-673G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-673G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-673G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-673G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-673G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-673G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-673G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-673G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031388	rs1370687838	A	C	.	AC0;AS_VQSR	AC=0;AN=22738;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=13248;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=9490;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=2846;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2110;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=4956;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=98;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=102;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=200;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=824;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=838;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=1662;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=426;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=396;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=822;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=358;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=340;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=698;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=218;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=480;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=698;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=30;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=18;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=48;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8168;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4840;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=13008;nhomalt_nfe=0;AC_raw=1;AF_raw=7.60398e-06;AN_raw=131510;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=126;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=96;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=222;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=154;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=270;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=424;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=26.3249;MQRankSum=-0.922000;QUALapprox=97;QD=12.1250;ReadPosRankSum=-0.421000;SOR=0.693000;VarDP=8;AS_FS=.;AS_MQ=26.3249;AS_MQRankSum=-0.922000;AS_pab_max=1.00000;AS_QUALapprox=97;AS_QD=12.1250;AS_ReadPosRankSum=-0.421000;AS_SB_TABLE=0,4|0,4;AS_SOR=0.693147;AS_VarDP=8;inbreeding_coeff=-7.60404e-06;AS_culprit=AS_MQ;AS_VQSLOD=-4.47330;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|9057|1449|765|89|5|4|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|8036|1998|865|376|91|3|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.101485;cadd_phred=2.10400;phylop=0.0750000;VRS_Allele_IDs=ga4gh:VA.MFWj-ZbSI6-4THaZ-i6NtK_RBLrduX5h,ga4gh:VA.EhZCPMLAM6KsxeKqeZFd5p4k7SOYQBvo;VRS_Starts=5031387,5031387;VRS_Ends=5031388,5031388;VRS_States=A,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-665A>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-665A>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-665A>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-665A>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-665A>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-665A>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-665A>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-665A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-665A>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031395	rs1188929610	G	A	.	AC0;AS_VQSR	AC=0;AN=23538;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=13708;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=9830;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=3002;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2222;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=5224;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=88;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=100;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=188;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=864;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=872;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=1736;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=428;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=408;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=836;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=384;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=366;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=750;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=234;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=508;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=742;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=30;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=30;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=60;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8360;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4922;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=13282;nhomalt_nfe=0;AC_raw=1;AF_raw=7.52400e-06;AN_raw=132908;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=130;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=96;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=226;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=188;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=306;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=494;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=7.36759;MQ=27.5804;MQRankSum=0.898000;QUALapprox=276;QD=11.0400;ReadPosRankSum=0.358000;SOR=0.0480000;VarDP=25;AS_FS=8.46818;AS_MQ=27.9607;AS_MQRankSum=0.736000;AS_pab_max=1.00000;AS_QUALapprox=243;AS_QD=16.2000;AS_ReadPosRankSum=0.358000;AS_SB_TABLE=0,14|2,7;AS_SOR=0.0311158;AS_VarDP=15;inbreeding_coeff=-7.52406e-06;AS_culprit=AS_MQ;AS_VQSLOD=-5.82890;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|9322|1512|836|86|7|6|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|8648|1930|777|334|78|2|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.00690000;cadd_phred=1.37900;phylop=0.0910000;VRS_Allele_IDs=ga4gh:VA.waOl_d36f77zQJJNt56tdrpq92FzL-Zd,ga4gh:VA.dR5R1ml3jD_TWJY9u7zl9wrhsv3pPaKN;VRS_Starts=5031394,5031394;VRS_Ends=5031395,5031395;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-658G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-658G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-658G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-658G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-658G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-658G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-658G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-658G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-658G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031402	rs1439627185	C	A	.	AS_VQSR	AC=1;AN=24154;AF=4.14010e-05;grpmax=nfe;AC_XX=0;AF_XX=0.00000;AN_XX=14098;nhomalt_XX=0;AC_XY=1;AF_XY=9.94431e-05;AN_XY=10056;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=3206;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2298;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=5504;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=98;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=106;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=204;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=878;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=926;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=1804;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=450;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=414;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=864;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=408;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=392;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=800;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=216;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=514;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=730;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=34;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=30;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=64;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8482;nhomalt_nfe_XX=0;AC_nfe_XY=1;AF_nfe_XY=0.000202102;AN_nfe_XY=4948;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=7.44602e-05;AN_nfe=13430;nhomalt_nfe=0;AC_raw=2;AF_raw=1.49649e-05;AN_raw=133646;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=130;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=112;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=242;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=196;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=316;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=512;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=7.44602e-05;AN_grpmax=13430;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=3.11170;MQ=27.0000;MQRankSum=-0.876000;QUALapprox=546;QD=13.6500;ReadPosRankSum=-0.358000;SOR=0.105000;VarDP=40;AS_FS=7.27774;AS_MQ=27.0000;AS_MQRankSum=-0.683000;AS_pab_max=1.00000;AS_QUALapprox=389;AS_QD=13.4138;AS_ReadPosRankSum=0.00000;AS_SB_TABLE=0,19|2,13;AS_SOR=0.0530140;AS_VarDP=29;inbreeding_coeff=-1.49651e-05;AS_culprit=AS_MQ;AS_VQSLOD=-5.56260;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|9688|1522|767|86|9|4|0|0|0|0|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9163|1883|679|281|69|2|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0349280;cadd_phred=1.13200;phylop=0.0920000;VRS_Allele_IDs=ga4gh:VA.O1gsuMpS6uPd8Tjh2OlwkJ1XNsnh22hf,ga4gh:VA.Jbqez4WET0ZAStCSygGpNjbuXCZursWY;VRS_Starts=5031401,5031401;VRS_Ends=5031402,5031402;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-651C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-651C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-651C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-651C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-651C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-651C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-651C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-651C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-651C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031402	rs1439627185	C	T	.	AC0;AS_VQSR	AC=0;AN=24154;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=14098;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=10056;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=3206;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2298;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=5504;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=98;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=106;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=204;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=878;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=926;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=1804;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=450;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=414;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=864;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=408;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=392;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=800;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=216;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=514;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=730;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=34;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=30;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=64;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8482;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4948;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=13430;nhomalt_nfe=0;AC_raw=2;AF_raw=1.49649e-05;AN_raw=133646;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=130;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=112;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=242;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=196;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=316;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=512;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=3.11170;MQ=27.0000;MQRankSum=-0.876000;QUALapprox=546;QD=13.6500;ReadPosRankSum=-0.358000;SOR=0.105000;VarDP=40;AS_FS=.;AS_MQ=27.0000;AS_MQRankSum=-1.23100;AS_pab_max=1.00000;AS_QUALapprox=157;AS_QD=14.2727;AS_ReadPosRankSum=-0.358000;AS_SB_TABLE=0,19|0,6;AS_SOR=0.115558;AS_VarDP=11;inbreeding_coeff=-1.49651e-05;AS_culprit=AS_MQ;AS_VQSLOD=-5.14270;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|9688|1522|767|86|9|4|0|0|0|0|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9163|1883|679|281|69|2|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0245960;cadd_phred=1.49700;phylop=0.0920000;VRS_Allele_IDs=ga4gh:VA.O1gsuMpS6uPd8Tjh2OlwkJ1XNsnh22hf,ga4gh:VA.OmVOqRTScvH0mzOfmuAs9OLkB03XSsyp;VRS_Starts=5031401,5031401;VRS_Ends=5031402,5031402;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-651C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-651C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-651C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-651C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-651C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-651C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-651C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-651C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-651C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031406	rs1180924620	C	T	.	AS_VQSR	AC=2;AN=23764;AF=8.41609e-05;grpmax=nfe;fafmax_faf95_max=2.59500e-05;fafmax_faf95_max_gen_anc=nfe;AC_XX=2;AF_XX=0.000143906;AN_XX=13898;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=9866;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=3140;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2278;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=5418;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=94;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=98;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=192;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=878;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=898;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=1776;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=446;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=420;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=866;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=392;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=390;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=782;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=204;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=504;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=708;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=28;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=26;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=54;nhomalt_mid=0;AC_nfe_XX=2;AF_nfe_XX=0.000238379;AN_nfe_XX=8390;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4834;nhomalt_nfe_XY=0;AC_nfe=2;AF_nfe=0.000151240;AN_nfe=13224;nhomalt_nfe=0;AC_raw=11;AF_raw=8.33725e-05;AN_raw=131938;nhomalt_raw=2;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=142;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=114;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=256;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=184;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=304;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=488;nhomalt_sas=0;AC_grpmax=2;AF_grpmax=0.000151240;AN_grpmax=13224;nhomalt_grpmax=0;faf95=1.49200e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=2.59500e-05;faf95_sas=0.00000;faf99=6.20000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=1.03200e-05;faf99_sas=0.00000;fafmax_faf99_max=1.03200e-05;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|0|1|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=4.02890;MQ=27.2694;MQRankSum=0.922000;QUALapprox=1432;QD=15.5652;ReadPosRankSum=0.731000;SOR=1.91600;VarDP=92;AS_FS=4.02263;AS_MQ=27.2853;AS_MQRankSum=0.922000;AS_pab_max=1.00000;AS_QUALapprox=1415;AS_QD=16.2644;AS_ReadPosRankSum=0.406000;AS_SB_TABLE=4,35|2,50;AS_SOR=1.88325;AS_VarDP=87;inbreeding_coeff=0.363583;AS_culprit=AS_MQ;AS_VQSLOD=-4.63230;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|1|0|0|0|0|0|0|1|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|9585|1533|674|70|4|3|0|0|0|1|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|2|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9129|1833|602|245|59|2|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0;cadd_raw_score=0.00593700;cadd_phred=1.37300;phylop=0.0920000;VRS_Allele_IDs=ga4gh:VA.7hC7iV6mw_uWUvP1uUeM1RoUJ30zZEzg,ga4gh:VA.14HAtBK1ydq6LuA0ZWTr1aWGGlDHrctf;VRS_Starts=5031405,5031405;VRS_Ends=5031406,5031406;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-647C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-647C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-647C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-647C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-647C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-647C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-647C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-647C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-647C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031407	rs1458352308	G	A	.	AS_VQSR	AC=1;AN=24076;AF=4.15351e-05;grpmax=afr;AC_XX=1;AF_XX=7.09320e-05;AN_XX=14098;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=9978;nhomalt_XY=0;nhomalt=0;AC_afr_XX=1;AF_afr_XX=0.000313480;AN_afr_XX=3190;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2292;nhomalt_afr_XY=0;AC_afr=1;AF_afr=0.000182415;AN_afr=5482;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=96;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=94;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=190;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=912;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=924;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=1836;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=436;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=418;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=854;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=410;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=398;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=808;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=216;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=510;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=726;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=32;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=32;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=64;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8456;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4862;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=13318;nhomalt_nfe=0;AC_raw=25;AF_raw=0.000187908;AN_raw=133044;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=142;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=116;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=258;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=208;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=332;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=540;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000182415;AN_grpmax=5482;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|1;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.59883;MQ=27.5140;MQRankSum=0.00000;QUALapprox=4243;QD=14.9929;ReadPosRankSum=0.00000;SOR=0.880000;VarDP=283;AS_FS=1.59883;AS_MQ=27.5140;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=4243;AS_QD=14.9929;AS_ReadPosRankSum=0.00000;AS_SB_TABLE=13,108|15,147;AS_SOR=0.880257;AS_VarDP=283;inbreeding_coeff=0.0798271;AS_culprit=AS_MQ;AS_VQSLOD=-4.11960;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|9681|1551|720|75|6|4|0|0|0|0|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9294|1844|598|242|58|2|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.00400400;cadd_phred=1.31000;phylop=0.0910000;VRS_Allele_IDs=ga4gh:VA.uYqVR_C9b6cp8iVUTLpzWOraqlbWrjnd,ga4gh:VA.7vqX5BebLKjkI2Jyu7ZS3xGzgLvvTqZm;VRS_Starts=5031406,5031406;VRS_Ends=5031407,5031407;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-646G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-646G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-646G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-646G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-646G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-646G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-646G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-646G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-646G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031416	rs1208114058	C	G	.	AS_VQSR	AC=1;AN=24698;AF=4.04891e-05;grpmax=nfe;AC_XX=0;AF_XX=0.00000;AN_XX=14466;nhomalt_XX=0;AC_XY=1;AF_XY=9.77326e-05;AN_XY=10232;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=3340;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2416;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=5756;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=92;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=96;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=188;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=966;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=968;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=1934;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=444;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=422;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=866;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=428;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=424;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=852;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=254;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=546;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=800;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=40;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=38;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=78;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8550;nhomalt_nfe_XX=0;AC_nfe_XY=1;AF_nfe_XY=0.000205931;AN_nfe_XY=4856;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=7.45935e-05;AN_nfe=13406;nhomalt_nfe=0;AC_raw=9;AF_raw=6.77231e-05;AN_raw=132894;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=144;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=118;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=262;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=208;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=348;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=556;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=7.45935e-05;AN_grpmax=13406;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|1|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=27.2004;MQRankSum=0.198000;QUALapprox=1704;QD=14.8174;ReadPosRankSum=0.00000;SOR=0.693000;VarDP=115;AS_FS=1.33986;AS_MQ=27.1428;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=1372;AS_QD=15.7701;AS_ReadPosRankSum=0.00000;AS_SB_TABLE=5,44|4,49;AS_SOR=1.02165;AS_VarDP=87;inbreeding_coeff=0.222170;AS_culprit=AS_MQ;AS_VQSLOD=-4.20090;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|9998|1545|730|66|7|2|0|0|1|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9783|1796|528|194|46|2|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0;cadd_raw_score=-0.0327920;cadd_phred=1.14300;phylop=0.0920000;VRS_Allele_IDs=ga4gh:VA.CrDcZkK9TgHQW7giluVNTHFYVG-BseGz,ga4gh:VA.MxU_HPKussNhw0mxR4F656avhelFLehs;VRS_Starts=5031415,5031415;VRS_Ends=5031416,5031416;VRS_States=C,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-637C>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-637C>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-637C>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-637C>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-637C>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-637C>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-637C>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-637C>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-637C>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031416	rs1208114058	C	T	.	AC0;AS_VQSR	AC=0;AN=24698;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=14466;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=10232;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=3340;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2416;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=5756;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=92;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=96;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=188;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=966;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=968;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=1934;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=444;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=422;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=866;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=428;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=424;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=852;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=254;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=546;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=800;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=40;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=38;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=78;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8550;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4856;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=13406;nhomalt_nfe=0;AC_raw=2;AF_raw=1.50496e-05;AN_raw=132894;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=144;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=118;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=262;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=208;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=348;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=556;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=27.2004;MQRankSum=0.198000;QUALapprox=1704;QD=14.8174;ReadPosRankSum=0.00000;SOR=0.693000;VarDP=115;AS_FS=4.59518;AS_MQ=27.3829;AS_MQRankSum=0.550000;AS_pab_max=1.00000;AS_QUALapprox=332;AS_QD=11.8571;AS_ReadPosRankSum=0.198000;AS_SB_TABLE=5,44|3,10;AS_SOR=0.126143;AS_VarDP=28;inbreeding_coeff=-1.50498e-05;AS_culprit=AS_MQ;AS_VQSLOD=-4.91110;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|9998|1545|730|66|7|2|0|0|1|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9783|1796|528|194|46|2|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.00948000;cadd_phred=1.39600;phylop=0.0920000;VRS_Allele_IDs=ga4gh:VA.CrDcZkK9TgHQW7giluVNTHFYVG-BseGz,ga4gh:VA.41Pbv7RyiCLtVVOCukafQXK49xutLeeb;VRS_Starts=5031415,5031415;VRS_Ends=5031416,5031416;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-637C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-637C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-637C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-637C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-637C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-637C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-637C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-637C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-637C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031417	rs1265959007	G	A	.	AS_VQSR	AC=17;AN=24980;AF=0.000680544;grpmax=afr;fafmax_faf95_max=0.00170234;fafmax_faf95_max_gen_anc=afr;AC_XX=11;AF_XX=0.000753218;AN_XX=14604;nhomalt_XX=0;AC_XY=6;AF_XY=0.000578258;AN_XY=10376;nhomalt_XY=0;nhomalt=0;AC_afr_XX=10;AF_afr_XX=0.00292569;AN_afr_XX=3418;nhomalt_afr_XX=0;AC_afr_XY=6;AF_afr_XY=0.00242326;AN_afr_XY=2476;nhomalt_afr_XY=0;AC_afr=16;AF_afr=0.00271463;AN_afr=5894;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=92;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=94;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=186;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=974;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=994;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=1968;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=448;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=422;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=870;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=446;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=438;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=884;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=264;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=562;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=826;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=40;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=38;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=78;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8560;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4858;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=13418;nhomalt_nfe=0;AC_raw=112;AF_raw=0.000838210;AN_raw=133618;nhomalt_raw=5;AC_remaining_XX=1;AF_remaining_XX=0.00675676;AN_remaining_XX=148;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=134;nhomalt_remaining_XY=0;AC_remaining=1;AF_remaining=0.00354610;AN_remaining=282;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=214;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=360;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=574;nhomalt_sas=0;AC_grpmax=16;AF_grpmax=0.00271463;AN_grpmax=5894;nhomalt_grpmax=0;faf95=0.000432960;faf95_afr=0.00170234;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.000355910;faf99_afr=0.00138764;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=0.00138764;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=0|1|0|1|1|1|2|0|1|1;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=3.55834;MQ=27.3730;MQRankSum=0.00000;QUALapprox=20876;QD=14.1724;ReadPosRankSum=0.00000;SOR=0.441000;VarDP=1473;AS_FS=3.55834;AS_MQ=27.3730;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=20876;AS_QD=14.1724;AS_ReadPosRankSum=0.00000;AS_SB_TABLE=94,563|150,666;AS_SOR=0.440567;AS_VarDP=1473;inbreeding_coeff=0.0885217;AS_culprit=AS_MQ;AS_VQSLOD=-4.57660;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|1|0|0|1|0|2|0|2|0|1|1|0|0|9;gq_hist_all_bin_freq=0|0|0|0|10063|1562|744|77|6|5|0|2|0|2|0|1|1|0|0|9;dp_hist_alt_bin_freq=0|0|17|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9913|1803|517|192|45|2|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|2|0|3|0|4|0|4|1|0|2|1|0|0|0;cadd_raw_score=-0.0243260;cadd_phred=1.19000;phylop=0.0910000;VRS_Allele_IDs=ga4gh:VA.6_tZrZTZVS132H-5ox14RPzUMFd53-8n,ga4gh:VA.Vh_MVNLyf4BcjGDExep2D1iSB7ZmaKJr;VRS_Starts=5031416,5031416;VRS_Ends=5031417,5031417;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-636G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-636G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-636G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-636G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-636G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-636G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-636G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-636G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-636G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031424	.	A	T	.	AC0;AS_VQSR	AC=0;AN=24744;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=14534;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=10210;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=3412;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2396;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=5808;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=100;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=92;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=192;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=994;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1032;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2026;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=426;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=424;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=850;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=466;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=444;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=910;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=300;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=576;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=876;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=50;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=42;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=92;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8370;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4706;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=13076;nhomalt_nfe=0;AC_raw=1;AF_raw=7.58369e-06;AN_raw=131862;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=152;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=122;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=274;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=264;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=376;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=640;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=2.58626;MQ=27.5700;MQRankSum=0.736000;QUALapprox=96;QD=3.42857;ReadPosRankSum=0.736000;SOR=1.34500;VarDP=28;AS_FS=0.00000;AS_MQ=27.7235;AS_MQRankSum=0.736000;AS_pab_max=1.00000;AS_QUALapprox=82;AS_QD=3.72727;AS_ReadPosRankSum=0.736000;AS_SB_TABLE=3,18|0,6;AS_SOR=1.15428;AS_VarDP=22;inbreeding_coeff=-7.58374e-06;AS_culprit=AS_MQ;AS_VQSLOD=-3.04420;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|9974|1528|783|73|11|3|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|9947|1780|437|169|37|2|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0842320;cadd_phred=1.95400;phylop=-1.74200;VRS_Allele_IDs=ga4gh:VA.X3Zy5k_V6hZ_kYuM34rxPSgyBoSUrWP2,ga4gh:VA.-dq85K1F72oQoe8i22hI70B7glzh9HS5;VRS_Starts=5031423,5031423;VRS_Ends=5031424,5031424;VRS_States=A,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-629A>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-629A>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-629A>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-629A>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-629A>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-629A>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-629A>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-629A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-629A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031425	rs1239257800	C	T	.	AS_VQSR	AC=51;AN=25892;AF=0.00196972;grpmax=afr;fafmax_faf95_max=0.00602252;fafmax_faf95_max_gen_anc=afr;AC_XX=30;AF_XX=0.00198386;AN_XX=15122;nhomalt_XX=2;AC_XY=21;AF_XY=0.00194986;AN_XY=10770;nhomalt_XY=0;nhomalt=2;AC_afr_XX=28;AF_afr_XX=0.00777778;AN_afr_XX=3600;nhomalt_afr_XX=2;AC_afr_XY=20;AF_afr_XY=0.00776398;AN_afr_XY=2576;nhomalt_afr_XY=0;AC_afr=48;AF_afr=0.00777202;AN_afr=6176;nhomalt_afr=2;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=102;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=100;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=202;nhomalt_ami=0;AC_amr_XX=1;AF_amr_XX=0.000939850;AN_amr_XX=1064;nhomalt_amr_XX=0;AC_amr_XY=1;AF_amr_XY=0.000914077;AN_amr_XY=1094;nhomalt_amr_XY=0;AC_amr=2;AF_amr=0.000926784;AN_amr=2158;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=440;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=432;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=872;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=474;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=476;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=950;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=320;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=644;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=964;nhomalt_fin=0;AC_mid_XX=1;AF_mid_XX=0.0192308;AN_mid_XX=52;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=44;nhomalt_mid_XY=0;AC_mid=1;AF_mid=0.0104167;AN_mid=96;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8640;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4866;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=13506;nhomalt_nfe=0;AC_raw=471;AF_raw=0.00351461;AN_raw=134012;nhomalt_raw=39;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=160;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=130;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=290;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=270;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=408;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=678;nhomalt_sas=0;AC_grpmax=48;AF_grpmax=0.00777202;AN_grpmax=6176;nhomalt_grpmax=2;faf95=0.00153859;faf95_afr=0.00602252;faf95_amr=0.000163690;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00138434;faf99_afr=0.00540138;faf99_amr=6.79300e-05;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=0.00540138;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=1|0|2|0|5|3|2|4|1|0;age_hist_het_n_smaller=6;age_hist_het_n_larger=1;age_hist_hom_bin_freq=0|0|1|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=27.1824;MQ=27.2046;MQRankSum=0.00000;QUALapprox=78864;QD=13.8650;ReadPosRankSum=0.358000;SOR=3.82200;VarDP=5688;AS_FS=27.1824;AS_MQ=27.2046;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=78864;AS_QD=13.8650;AS_ReadPosRankSum=0.358000;AS_SB_TABLE=398,2243|78,2969;AS_SOR=3.82176;AS_VarDP=5688;inbreeding_coeff=0.162662;AS_culprit=AS_SOR;AS_VQSLOD=-7.34120;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|4|0|0|0|0|3|3|4|0|0|1|2|6|27;gq_hist_all_bin_freq=0|0|0|0|10149|1666|946|102|13|6|0|3|3|4|0|0|1|2|6|27;dp_hist_alt_bin_freq=0|0|48|2|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10493|1812|421|165|35|2|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|4|3|7|6|8|5|7|0|7|0|0|0|1|0|0|0;cadd_raw_score=0.0248850;cadd_phred=1.49900;phylop=0.0920000;VRS_Allele_IDs=ga4gh:VA.luAg0jlan6ipvIM2zFtkrsfq3ST27i7j,ga4gh:VA.3hDRlqrpJkjHo_o8c1rtoOVfo9UN6znr;VRS_Starts=5031424,5031424;VRS_Ends=5031425,5031425;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-628C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-628C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-628C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-628C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-628C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-628C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-628C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-628C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-628C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031434	.	G	C	.	AC0	AC=0;AN=25552;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=15002;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=10550;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=3602;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2632;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=6234;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=100;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=92;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=192;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1044;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1064;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2108;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=446;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=422;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=868;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=420;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=422;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=842;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=312;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=662;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=974;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=54;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=46;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=100;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8652;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4708;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=13360;nhomalt_nfe=0;AC_raw=1;AF_raw=7.57002e-06;AN_raw=132100;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=154;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=150;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=304;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=218;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=352;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=570;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=27.0000;MQRankSum=1.02600;QUALapprox=198;QD=7.92000;ReadPosRankSum=0.736000;SOR=0.446000;VarDP=25;AS_FS=3.10938;AS_MQ=Infinity;AS_MQRankSum=1.63800;AS_pab_max=1.00000;AS_QUALapprox=96;AS_QD=12.0000;AS_ReadPosRankSum=-0.421000;AS_SB_TABLE=2,15|1,3;AS_SOR=0.131576;AS_VarDP=8;inbreeding_coeff=-7.57008e-06;AS_culprit=AS_FS;AS_VQSLOD=-2.02020;negative_train_site;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|10126|1654|883|82|8|3|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10472|1763|352|138|29|2|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0183410;cadd_phred=1.22500;phylop=0.0910000;VRS_Allele_IDs=ga4gh:VA.cVG0zZ_JWc2MGbvHWya5HDq9TAXnzS0n,ga4gh:VA.Eg6uRUWyiKxPHfy7W1-h_F0KuT91gEhm;VRS_Starts=5031433,5031433;VRS_Ends=5031434,5031434;VRS_States=G,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-619G>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-619G>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-619G>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-619G>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-619G>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-619G>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-619G>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-619G>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-619G>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031434	.	G	T	.	AC0;AS_VQSR	AC=0;AN=25552;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=15002;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=10550;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=3602;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2632;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=6234;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=100;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=92;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=192;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1044;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1064;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2108;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=446;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=422;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=868;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=420;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=422;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=842;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=312;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=662;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=974;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=54;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=46;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=100;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8652;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4708;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=13360;nhomalt_nfe=0;AC_raw=3;AF_raw=2.27101e-05;AN_raw=132100;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=154;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=150;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=304;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=218;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=352;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=570;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=27.0000;MQRankSum=1.02600;QUALapprox=198;QD=7.92000;ReadPosRankSum=0.736000;SOR=0.446000;VarDP=25;AS_FS=0.00000;AS_MQ=27.0000;AS_MQRankSum=0.736000;AS_pab_max=1.00000;AS_QUALapprox=102;AS_QD=6.00000;AS_ReadPosRankSum=0.736000;AS_SB_TABLE=2,15|0,4;AS_SOR=0.630690;AS_VarDP=17;inbreeding_coeff=-2.27106e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.35790;negative_train_site;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|10126|1654|883|82|8|3|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10472|1763|352|138|29|2|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0305000;cadd_phred=1.15600;phylop=0.0910000;VRS_Allele_IDs=ga4gh:VA.cVG0zZ_JWc2MGbvHWya5HDq9TAXnzS0n,ga4gh:VA.Y1NZaf2cROcUXg4o8KKhXajIxNCyjwoc;VRS_Starts=5031433,5031433;VRS_Ends=5031434,5031434;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-619G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-619G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-619G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-619G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-619G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-619G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-619G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-619G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-619G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031448	rs1987125492	C	T	.	AC0;AS_VQSR	AC=0;AN=26410;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=15534;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=10876;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=3952;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2764;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=6716;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=102;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=92;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=194;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1170;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1202;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2372;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=428;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=394;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=822;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=504;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=518;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1022;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=448;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=782;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1230;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=70;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=50;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=120;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8358;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4438;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=12796;nhomalt_nfe=0;AC_raw=1;AF_raw=7.64281e-06;AN_raw=130842;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=156;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=150;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=306;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=346;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=486;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=832;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=27.5978;MQRankSum=0.406000;QUALapprox=203;QD=9.22727;ReadPosRankSum=-0.358000;SOR=1.02200;VarDP=22;AS_FS=6.04307;AS_MQ=28.0547;AS_MQRankSum=0.358000;AS_pab_max=1.00000;AS_QUALapprox=163;AS_QD=10.8667;AS_ReadPosRankSum=-0.358000;AS_SB_TABLE=4,9|0,7;AS_SOR=2.83321;AS_VarDP=15;inbreeding_coeff=-7.64286e-06;AS_culprit=AS_SOR;AS_VQSLOD=-6.80060;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|10221|1850|981|129|14|9|1|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10890|1938|274|82|21|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.111858;cadd_phred=2.19900;phylop=0.134000;VRS_Allele_IDs=ga4gh:VA.njFTMaQoQA6PviFRGGEEzesp8tSloSBC,ga4gh:VA.27klyjbCEDiQMV2QMSg-ge5uMs-qBuI5;VRS_Starts=5031447,5031447;VRS_Ends=5031448,5031448;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-605C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-605C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-605C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-605C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-605C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-605C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-605C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-605C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-605C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031449	rs1987125560	A	T	.	AC0;AS_VQSR	AC=0;AN=26458;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=15588;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=10870;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=3966;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2792;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=6758;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=104;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=88;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=192;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1150;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1208;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2358;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=432;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=394;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=826;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=474;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=494;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=968;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=448;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=780;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1228;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=66;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=50;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=116;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8482;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4460;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=12942;nhomalt_nfe=0;AC_raw=2;AF_raw=1.52182e-05;AN_raw=131422;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=170;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=158;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=328;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=296;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=446;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=742;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=7.56962;MQ=27.4135;MQRankSum=0.736000;QUALapprox=180;QD=11.2500;ReadPosRankSum=0.736000;SOR=0.0390000;VarDP=16;AS_FS=7.56962;AS_MQ=27.4135;AS_MQRankSum=0.736000;AS_pab_max=1.00000;AS_QUALapprox=180;AS_QD=11.2500;AS_ReadPosRankSum=0.736000;AS_SB_TABLE=0,9|2,5;AS_SOR=0.0392207;AS_VarDP=16;inbreeding_coeff=-1.52184e-05;AS_culprit=AS_MQ;AS_VQSLOD=-4.92090;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|10295|1826|957|111|11|8|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10894|1937|275|81|21|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.182946;cadd_phred=2.93100;phylop=0.109000;VRS_Allele_IDs=ga4gh:VA.I0c2j_VUKuWZeHL9-5o3uvqtlje8q3XZ,ga4gh:VA.iWtFUXMOEg5dF4ugdwjoZBuccY6cF9lH;VRS_Starts=5031448,5031448;VRS_Ends=5031449,5031449;VRS_States=A,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-604A>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-604A>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-604A>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-604A>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-604A>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-604A>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-604A>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-604A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-604A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031451	rs1987125625	T	G	.	AS_VQSR	AC=1;AN=25572;AF=3.91053e-05;grpmax=nfe;AC_XX=1;AF_XX=6.61989e-05;AN_XX=15106;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=10466;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=3832;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2660;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=6492;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=98;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=88;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=186;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1124;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1172;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2296;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=422;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=388;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=810;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=488;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=510;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=998;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=424;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=738;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1162;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=70;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=50;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=120;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=0.000122579;AN_nfe_XX=8158;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4234;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=8.06972e-05;AN_nfe=12392;nhomalt_nfe=0;AC_raw=3;AF_raw=2.32331e-05;AN_raw=129126;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=158;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=146;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=304;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=332;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=480;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=812;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=8.06972e-05;AN_grpmax=12392;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=1;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=27.9995;MQRankSum=0.727000;QUALapprox=95;QD=2.87879;ReadPosRankSum=0.727000;SOR=0.368000;VarDP=33;AS_FS=0.00000;AS_MQ=27.0634;AS_MQRankSum=0.00000;AS_pab_max=0.343750;AS_QUALapprox=62;AS_QD=2.95238;AS_ReadPosRankSum=-0.480000;AS_SB_TABLE=5,20|1,5;AS_SOR=0.550831;AS_VarDP=21;inbreeding_coeff=0.666659;AS_culprit=AS_MQ;AS_VQSLOD=-4.12500;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|9994|1753|899|120|12|7|1|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10504|1935|254|74|19|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.201811;cadd_phred=3.14400;phylop=0.110000;VRS_Allele_IDs=ga4gh:VA.CJwQL9iZfrrZqnYTc-Nxea3o6gA_lwHT,ga4gh:VA.8QMXzcBB6aEh_ONDMhY-H5PO5wjXDTWj;VRS_Starts=5031450,5031450;VRS_Ends=5031451,5031451;VRS_States=T,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-602T>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-602T>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-602T>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-602T>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-602T>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-602T>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-602T>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-602T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-602T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031458	.	C	G	.	AC0;AS_VQSR	AC=0;AN=25298;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=15010;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=10288;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=3892;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2688;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=6580;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=98;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=82;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=180;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1146;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1182;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2328;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=378;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=370;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=748;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=506;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=494;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1000;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=458;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=748;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1206;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=70;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=48;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=118;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8008;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4066;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=12074;nhomalt_nfe=0;AC_raw=1;AF_raw=7.79630e-06;AN_raw=128266;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=152;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=150;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=302;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=302;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=460;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=762;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.90565;MQ=27.0000;MQRankSum=0.348000;QUALapprox=324;QD=7.90244;ReadPosRankSum=0.727000;SOR=1.29200;VarDP=41;AS_FS=0.00000;AS_MQ=27.0000;AS_MQRankSum=0.736000;AS_pab_max=1.00000;AS_QUALapprox=65;AS_QD=9.28571;AS_ReadPosRankSum=0.736000;AS_SB_TABLE=5,23|0,2;AS_SOR=0.446287;AS_VarDP=7;inbreeding_coeff=-7.79636e-06;AS_culprit=AS_MQ;AS_VQSLOD=-3.79280;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|9813|1784|907|123|12|9|1|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10315|2006|253|60|15|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0448180;cadd_phred=1.64100;phylop=0.134000;VRS_Allele_IDs=ga4gh:VA.eAuvrPtVzYcSNT3I45zE-aWHTVJaGhr5,ga4gh:VA.nQr94TQ1mYMMU2pEzdC57Oa7V9t1CZcw;VRS_Starts=5031457,5031457;VRS_Ends=5031458,5031458;VRS_States=C,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-595C>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-595C>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-595C>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-595C>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-595C>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-595C>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-595C>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-595C>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-595C>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031458	rs2081754920	C	T	.	AC0;AS_VQSR	AC=0;AN=25342;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=15010;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=10332;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=3894;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2720;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=6614;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=98;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=82;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=180;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1150;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1186;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2336;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=378;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=370;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=748;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=504;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=498;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1002;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=458;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=748;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1206;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=66;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=46;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=112;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8002;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4068;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=12070;nhomalt_nfe=0;AC_raw=2;AF_raw=1.55868e-05;AN_raw=128314;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=162;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=154;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=316;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=298;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=460;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=758;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.90565;MQ=27.0000;MQRankSum=0.348000;QUALapprox=324;QD=7.90244;ReadPosRankSum=0.727000;SOR=1.29200;VarDP=41;AS_FS=0.00000;AS_MQ=27.0000;AS_MQRankSum=0.322000;AS_pab_max=1.00000;AS_QUALapprox=211;AS_QD=10.5500;AS_ReadPosRankSum=-0.322000;AS_SB_TABLE=5,23|1,8;AS_SOR=0.817851;AS_VarDP=20;inbreeding_coeff=-1.55870e-05;AS_culprit=AS_MQ;AS_VQSLOD=-4.25090;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|9813|1784|907|123|12|9|1|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10315|2006|253|60|15|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0870900;cadd_phred=1.97800;phylop=0.134000;VRS_Allele_IDs=ga4gh:VA.eAuvrPtVzYcSNT3I45zE-aWHTVJaGhr5,ga4gh:VA.8TkVGS2verCY4aztY7e8aQ9GTBl_qp3f;VRS_Starts=5031457,5031457;VRS_Ends=5031458,5031458;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-595C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-595C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-595C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-595C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-595C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-595C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-595C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-595C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-595C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031459	rs1447292337	G	A	.	AS_VQSR	AC=2;AN=26010;AF=7.68935e-05;grpmax=eas;AC_XX=1;AF_XX=6.51466e-05;AN_XX=15350;nhomalt_XX=0;AC_XY=1;AF_XY=9.38086e-05;AN_XY=10660;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=4000;nhomalt_afr_XX=0;AC_afr_XY=1;AF_afr_XY=0.000359712;AN_afr_XY=2780;nhomalt_afr_XY=0;AC_afr=1;AF_afr=0.000147493;AN_afr=6780;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=96;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=76;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=172;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1198;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1236;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2434;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=392;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=374;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=766;nhomalt_asj=0;AC_eas_XX=1;AF_eas_XX=0.00188679;AN_eas_XX=530;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=544;nhomalt_eas_XY=0;AC_eas=1;AF_eas=0.000931099;AN_eas=1074;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=468;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=804;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1272;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=62;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=46;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=108;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8086;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4120;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=12206;nhomalt_nfe=0;AC_raw=7;AF_raw=5.37973e-05;AN_raw=130118;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=166;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=164;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=330;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=352;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=516;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=868;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000931099;AN_grpmax=1074;nhomalt_grpmax=0;faf95=1.27200e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=4.76000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=1;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=2.05445;MQ=27.6731;MQRankSum=0.00000;QUALapprox=866;QD=12.1972;ReadPosRankSum=0.550000;SOR=0.963000;VarDP=71;AS_FS=2.05445;AS_MQ=27.6731;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=866;AS_QD=12.1972;AS_ReadPosRankSum=0.550000;AS_SB_TABLE=13,24|10,24;AS_SOR=0.963111;AS_VarDP=71;inbreeding_coeff=-5.38002e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.55110;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|2;gq_hist_all_bin_freq=0|0|0|0|9942|1848|1014|147|16|14|2|0|0|0|0|0|0|0|0|2;dp_hist_alt_bin_freq=0|0|1|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10584|2074|256|58|13|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|1|1|0|0|0|0|0|0|0|0;cadd_raw_score=0.0562700;cadd_phred=1.72800;phylop=0.133000;VRS_Allele_IDs=ga4gh:VA.n40d0-Fhsl0p0kfCo0rppueoUonhYWNK,ga4gh:VA.hwYgJJh4Yrzbo1r0oQE9bk_Tix78-SB5;VRS_Starts=5031458,5031458;VRS_Ends=5031459,5031459;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-594G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-594G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-594G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-594G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-594G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-594G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-594G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-594G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-594G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031460	rs1369752797	G	T	.	AS_VQSR	AC=1;AN=25848;AF=3.86877e-05;grpmax=nfe;AC_XX=0;AF_XX=0.00000;AN_XX=15292;nhomalt_XX=0;AC_XY=1;AF_XY=9.47329e-05;AN_XY=10556;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=3980;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2730;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=6710;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=94;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=80;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=174;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1188;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1238;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2426;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=384;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=362;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=746;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=526;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=534;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1060;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=462;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=782;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1244;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=70;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=46;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=116;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8082;nhomalt_nfe_XX=0;AC_nfe_XY=1;AF_nfe_XY=0.000243427;AN_nfe_XY=4108;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=8.20345e-05;AN_nfe=12190;nhomalt_nfe=0;AC_raw=1;AF_raw=7.68628e-06;AN_raw=130102;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=152;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=162;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=314;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=354;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=514;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=868;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=8.20345e-05;AN_grpmax=12190;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=2.33130;MQ=27.6665;MQRankSum=0.736000;QUALapprox=177;QD=11.0625;ReadPosRankSum=-0.736000;SOR=1.60900;VarDP=16;AS_FS=6.40978;AS_MQ=27.8181;AS_MQRankSum=0.101000;AS_pab_max=1.00000;AS_QUALapprox=145;AS_QD=11.1538;AS_ReadPosRankSum=-1.20000;AS_SB_TABLE=3,6|0,6;AS_SOR=2.83321;AS_VarDP=13;inbreeding_coeff=-7.68634e-06;AS_culprit=AS_SOR;AS_VQSLOD=-7.63940;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|9865|1852|1020|152|19|13|2|0|0|0|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10519|2080|254|58|13|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.000163000;cadd_phred=1.33600;phylop=0.133000;VRS_Allele_IDs=ga4gh:VA.cESIiidS6d-b_BwtCpdxT3mUuC50Ct8Q,ga4gh:VA.R-rJHHUTCw6EbsV2YQWaHdDpE9EgDPjo;VRS_Starts=5031459,5031459;VRS_Ends=5031460,5031460;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-593G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-593G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-593G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-593G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-593G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-593G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-593G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-593G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-593G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031462	.	C	A	.	AC0;AS_VQSR	AC=0;AN=25374;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=15092;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=10282;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=3906;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2684;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=6590;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=96;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=76;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=172;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1158;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1194;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2352;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=390;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=372;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=762;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=502;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=492;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=994;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=462;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=778;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1240;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=70;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=50;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=120;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8002;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4016;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=12018;nhomalt_nfe=0;AC_raw=2;AF_raw=1.55453e-05;AN_raw=128656;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=164;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=158;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=322;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=342;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=462;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=804;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=7.51043;MQ=27.5635;MQRankSum=0.358000;QUALapprox=513;QD=8.69491;ReadPosRankSum=0.804000;SOR=0.573000;VarDP=59;AS_FS=2.07065;AS_MQ=27.6639;AS_MQRankSum=-0.696000;AS_pab_max=0.289063;AS_QUALapprox=94;AS_QD=3.91667;AS_ReadPosRankSum=0.736000;AS_SB_TABLE=14,25|2,2;AS_SOR=0.287312;AS_VarDP=24;inbreeding_coeff=-1.55456e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.49760;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|9725|1831|947|150|19|13|1|0|0|0|0|0|0|0|1|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10284|2083|252|56|12|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.00763100;cadd_phred=1.38400;phylop=0.134000;VRS_Allele_IDs=ga4gh:VA.HF-d0jIaJu9R_eN7aI-TE-L6r3z7qFvt,ga4gh:VA.RzTdGqXPuxDcNGUHpzVGsdPxGKVKuiv2;VRS_Starts=5031461,5031461;VRS_Ends=5031462,5031462;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-591C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-591C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-591C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-591C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-591C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-591C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-591C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-591C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-591C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031462	rs1321239277	C	T	.	AS_VQSR	AC=1;AN=25374;AF=3.94104e-05;grpmax=nfe;AC_XX=0;AF_XX=0.00000;AN_XX=15092;nhomalt_XX=0;AC_XY=1;AF_XY=9.72573e-05;AN_XY=10282;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=3906;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2684;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=6590;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=96;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=76;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=172;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1158;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1194;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2352;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=390;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=372;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=762;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=502;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=492;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=994;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=462;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=778;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1240;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=70;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=50;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=120;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8002;nhomalt_nfe_XX=0;AC_nfe_XY=1;AF_nfe_XY=0.000249004;AN_nfe_XY=4016;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=8.32085e-05;AN_nfe=12018;nhomalt_nfe=0;AC_raw=6;AF_raw=4.66360e-05;AN_raw=128656;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=164;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=158;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=322;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=342;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=462;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=804;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=8.32085e-05;AN_grpmax=12018;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=7.51043;MQ=27.5635;MQRankSum=0.358000;QUALapprox=513;QD=8.69491;ReadPosRankSum=0.804000;SOR=0.573000;VarDP=59;AS_FS=4.50261;AS_MQ=27.5241;AS_MQRankSum=0.358000;AS_pab_max=1.00000;AS_QUALapprox=355;AS_QD=10.7576;AS_ReadPosRankSum=0.804000;AS_SB_TABLE=14,25|8,7;AS_SOR=0.469044;AS_VarDP=33;inbreeding_coeff=0.333302;AS_culprit=AS_MQ;AS_VQSLOD=-3.77990;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1|0;gq_hist_all_bin_freq=0|0|0|0|9725|1831|947|150|19|13|1|0|0|0|0|0|0|0|1|0;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10284|2083|252|56|12|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0671550;cadd_phred=1.81300;phylop=0.134000;VRS_Allele_IDs=ga4gh:VA.HF-d0jIaJu9R_eN7aI-TE-L6r3z7qFvt,ga4gh:VA.qB8OvEa-nYrqepOxFQ6mdQrUFxgK3_Dr;VRS_Starts=5031461,5031461;VRS_Ends=5031462,5031462;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-591C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-591C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-591C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-591C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-591C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-591C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-591C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-591C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-591C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031465	rs1390739513	G	A	.	AS_VQSR	AC=1505;AN=25326;AF=0.0594251;grpmax=nfe;fafmax_faf95_max=0.0819480;fafmax_faf95_max_gen_anc=nfe;AC_XX=932;AF_XX=0.0623996;AN_XX=14936;nhomalt_XX=63;AC_XY=573;AF_XY=0.0551492;AN_XY=10390;nhomalt_XY=39;nhomalt=102;AC_afr_XX=66;AF_afr_XX=0.0168110;AN_afr_XX=3926;nhomalt_afr_XX=2;AC_afr_XY=44;AF_afr_XY=0.0158501;AN_afr_XY=2776;nhomalt_afr_XY=0;AC_afr=110;AF_afr=0.0164130;AN_afr=6702;nhomalt_afr=2;AC_ami_XX=11;AF_ami_XX=0.119565;AN_ami_XX=92;nhomalt_ami_XX=1;AC_ami_XY=7;AF_ami_XY=0.0945946;AN_ami_XY=74;nhomalt_ami_XY=0;AC_ami=18;AF_ami=0.108434;AN_ami=166;nhomalt_ami=1;AC_amr_XX=41;AF_amr_XX=0.0348639;AN_amr_XX=1176;nhomalt_amr_XX=1;AC_amr_XY=45;AF_amr_XY=0.0364668;AN_amr_XY=1234;nhomalt_amr_XY=1;AC_amr=86;AF_amr=0.0356846;AN_amr=2410;nhomalt_amr=2;AC_asj_XX=46;AF_asj_XX=0.130682;AN_asj_XX=352;nhomalt_asj_XX=5;AC_asj_XY=34;AF_asj_XY=0.0913978;AN_asj_XY=372;nhomalt_asj_XY=3;AC_asj=80;AF_asj=0.110497;AN_asj=724;nhomalt_asj=8;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=548;nhomalt_eas_XX=0;AC_eas_XY=2;AF_eas_XY=0.00373134;AN_eas_XY=536;nhomalt_eas_XY=0;AC_eas=2;AF_eas=0.00184502;AN_eas=1084;nhomalt_eas=0;AC_fin_XX=58;AF_fin_XX=0.123932;AN_fin_XX=468;nhomalt_fin_XX=7;AC_fin_XY=82;AF_fin_XY=0.106771;AN_fin_XY=768;nhomalt_fin_XY=6;AC_fin=140;AF_fin=0.113269;AN_fin=1236;nhomalt_fin=13;AC_mid_XX=3;AF_mid_XX=0.0468750;AN_mid_XX=64;nhomalt_mid_XX=0;AC_mid_XY=1;AF_mid_XY=0.0208333;AN_mid_XY=48;nhomalt_mid_XY=0;AC_mid=4;AF_mid=0.0357143;AN_mid=112;nhomalt_mid=0;AC_nfe_XX=678;AF_nfe_XX=0.0873261;AN_nfe_XX=7764;nhomalt_nfe_XX=45;AC_nfe_XY=331;AF_nfe_XY=0.0844819;AN_nfe_XY=3918;nhomalt_nfe_XY=27;AC_nfe=1009;AF_nfe=0.0863722;AN_nfe=11682;nhomalt_nfe=72;AC_raw=8498;AF_raw=0.0659731;AN_raw=128810;nhomalt_raw=1287;AC_remaining_XX=14;AF_remaining_XX=0.0760870;AN_remaining_XX=184;nhomalt_remaining_XX=0;AC_remaining_XY=6;AF_remaining_XY=0.0384615;AN_remaining_XY=156;nhomalt_remaining_XY=2;AC_remaining=20;AF_remaining=0.0588235;AN_remaining=340;nhomalt_remaining=2;AC_sas_XX=15;AF_sas_XX=0.0414365;AN_sas_XX=362;nhomalt_sas_XX=2;AC_sas_XY=21;AF_sas_XY=0.0413386;AN_sas_XY=508;nhomalt_sas_XY=0;AC_sas=36;AF_sas=0.0413793;AN_sas=870;nhomalt_sas=2;AC_grpmax=1009;AF_grpmax=0.0863722;AN_grpmax=11682;nhomalt_grpmax=72;faf95=0.0569276;faf95_afr=0.0139262;faf95_amr=0.0295988;faf95_eas=0.000326960;faf95_nfe=0.0819480;faf95_sas=0.0307254;faf99=0.0559193;faf99_afr=0.0129930;faf99_amr=0.0273463;faf99_eas=0.000136790;faf99_nfe=0.0801724;faf99_sas=0.0270404;fafmax_faf99_max=0.0801724;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=10|15|25|31|43|40|45|36|33|12;age_hist_het_n_smaller=23;age_hist_het_n_larger=6;age_hist_hom_bin_freq=1|1|2|2|4|4|4|3|1|1;age_hist_hom_n_smaller=1;age_hist_hom_n_larger=4;FS=3.52955;MQ=28.2480;MQRankSum=0.144000;QUALapprox=1775717;QD=16.0642;ReadPosRankSum=0.322000;SOR=0.460000;VarDP=110539;AS_FS=3.52955;AS_MQ=28.2480;AS_MQRankSum=0.143000;AS_pab_max=1.00000;AS_QUALapprox=1775717;AS_QD=16.0642;AS_ReadPosRankSum=0.322000;AS_SB_TABLE=13659,30940|24141,41799;AS_SOR=0.460145;AS_VarDP=110539;inbreeding_coeff=0.253656;AS_culprit=AS_MQ;AS_VQSLOD=-4.36500;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|9|14|90|26|17|14|13|62|37|70|17|24|41|50|110|812;gq_hist_all_bin_freq=0|0|0|0|8820|1536|878|117|31|24|13|62|37|70|17|24|41|50|110|812;dp_hist_alt_bin_freq=0|0|1219|173|14|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10215|2136|242|40|9|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|18|38|74|73|159|110|312|70|207|119|48|26|49|1|0|0;cadd_raw_score=0.0230530;cadd_phred=1.48600;phylop=0.133000;VRS_Allele_IDs=ga4gh:VA.Bvzj8vACOCDJliR9DWC5WSQebZKHmQdv,ga4gh:VA.SkXM0tLXMbEjUO7-nyoDDtmhOO1f1jjs;VRS_Starts=5031464,5031464;VRS_Ends=5031465,5031465;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-588G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-588G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-588G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-588G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-588G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-588G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-588G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-588G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-588G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031470	rs1157496388	C	A	.	AS_VQSR	AC=2;AN=26236;AF=7.62311e-05;grpmax=afr;fafmax_faf95_max=5.15500e-05;fafmax_faf95_max_gen_anc=afr;AC_XX=2;AF_XX=0.000129668;AN_XX=15424;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=10812;nhomalt_XY=0;nhomalt=0;AC_afr_XX=2;AF_afr_XX=0.000503271;AN_afr_XX=3974;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2796;nhomalt_afr_XY=0;AC_afr=2;AF_afr=0.000295421;AN_afr=6770;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=92;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=72;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=164;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1200;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1274;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2474;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=388;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=394;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=782;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=544;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=544;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1088;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=552;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=898;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1450;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=82;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=54;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=136;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8038;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4098;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=12136;nhomalt_nfe=0;AC_raw=9;AF_raw=6.93054e-05;AN_raw=129860;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=180;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=162;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=342;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=374;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=520;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=894;nhomalt_sas=0;AC_grpmax=2;AF_grpmax=0.000295421;AN_grpmax=6770;nhomalt_grpmax=0;faf95=1.26100e-05;faf95_afr=5.15500e-05;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=4.72000e-06;faf99_afr=2.11000e-05;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=2.11000e-05;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=0|0|0|0|0|1|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=38.3577;MQ=28.0199;MQRankSum=-0.382000;QUALapprox=916;QD=10.4091;ReadPosRankSum=0.727000;SOR=4.26000;VarDP=88;AS_FS=38.3577;AS_MQ=28.0199;AS_MQRankSum=-0.382000;AS_pab_max=1.00000;AS_QUALapprox=916;AS_QD=10.4091;AS_ReadPosRankSum=0.727000;AS_SB_TABLE=20,30|2,36;AS_SOR=4.25991;AS_VarDP=88;inbreeding_coeff=-6.93102e-05;AS_culprit=AS_SOR;AS_VQSLOD=-6.26830;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|1|0|0;gq_hist_all_bin_freq=0|0|0|0|9800|1980|1144|155|22|14|1|0|1|0|0|0|0|1|0|0;dp_hist_alt_bin_freq=0|0|2|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10412|2384|276|38|8|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|1|1|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0253290;cadd_phred=1.50200;phylop=0.134000;VRS_Allele_IDs=ga4gh:VA.3KP7XIQiGdOXHm81Bemf2JazHXp3D6Gj,ga4gh:VA.pwLp0TwbckRUc4Tq06vnQRTlgDGAjvyA;VRS_Starts=5031469,5031469;VRS_Ends=5031470,5031470;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-583C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-583C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-583C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-583C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-583C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-583C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-583C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-583C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-583C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031474	rs1419576456	T	C	.	AC0;AS_VQSR	AC=0;AN=26086;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=15408;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=10678;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=3986;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2780;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=6766;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=94;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=70;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=164;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1194;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1272;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2466;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=378;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=392;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=770;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=506;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=526;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1032;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=566;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=904;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1470;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=84;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=56;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=140;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8080;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4042;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=12122;nhomalt_nfe=0;AC_raw=3;AF_raw=2.31653e-05;AN_raw=129504;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=180;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=160;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=340;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=340;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=476;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=816;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.62400;MQ=27.6466;MQRankSum=-0.322000;QUALapprox=422;QD=12.7879;ReadPosRankSum=1.02600;SOR=1.12500;VarDP=33;AS_FS=1.62400;AS_MQ=27.6466;AS_MQRankSum=-0.322000;AS_pab_max=1.00000;AS_QUALapprox=422;AS_QD=12.7879;AS_ReadPosRankSum=1.02600;AS_SB_TABLE=4,12|3,14;AS_SOR=1.12501;AS_VarDP=33;inbreeding_coeff=-2.31658e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.37320;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|9744|2005|1092|169|21|11|1|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10300|2429|271|37|6|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.225033;cadd_phred=3.41200;phylop=-1.35200;VRS_Allele_IDs=ga4gh:VA.Y1lTIxNVV2nB3nsk28fwDByHYPwr2YTL,ga4gh:VA.vKsD-3i-UGVDD1cfZQaUcLWc4a_BWN_F;VRS_Starts=5031473,5031473;VRS_Ends=5031474,5031474;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-579T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-579T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-579T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-579T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-579T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-579T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-579T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-579T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-579T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031475	.	G	T	.	AC0;AS_VQSR	AC=0;AN=26514;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=15630;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=10884;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=4058;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2826;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=6884;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=94;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=68;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=162;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1222;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1308;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2530;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=382;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=396;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=778;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=552;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=564;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1116;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=588;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=910;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1498;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=84;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=54;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=138;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8074;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4076;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=12150;nhomalt_nfe=0;AC_raw=2;AF_raw=1.53931e-05;AN_raw=129928;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=186;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=162;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=348;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=390;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=520;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=910;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;MQ=27.0000;QUALapprox=64;QD=32.0000;SOR=2.30300;VarDP=2;AS_MQ=27.0000;AS_QUALapprox=64;AS_QD=32.0000;AS_SB_TABLE=0,0|0,2;AS_SOR=2.30259;AS_VarDP=2;inbreeding_coeff=1.00000;AS_culprit=AS_SOR;AS_VQSLOD=-6.33080;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|9815|2076|1147|180|23|15|1|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10459|2480|274|38|6|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0271840;cadd_phred=1.51500;phylop=0.133000;VRS_Allele_IDs=ga4gh:VA.8uTXZD5jbUUY6Io2kbgDK3ldAay92b3Z,ga4gh:VA.NeXKMyTYHj17Q9rjH4J_TPDDTEDvHxkD;VRS_Starts=5031474,5031474;VRS_Ends=5031475,5031475;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-578G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-578G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-578G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-578G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-578G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-578G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-578G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-578G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-578G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031476	.	C	G	.	AC0;AS_VQSR	AC=0;AN=26338;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=15510;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=10828;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=4004;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2820;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=6824;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=92;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=70;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=162;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1214;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1302;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2516;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=378;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=388;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=766;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=548;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=572;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1120;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=590;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=896;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1486;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=84;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=58;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=142;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8028;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4034;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=12062;nhomalt_nfe=0;AC_raw=1;AF_raw=7.74222e-06;AN_raw=129162;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=184;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=162;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=346;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=388;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=526;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=914;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=29.0121;MQRankSum=-0.358000;QUALapprox=158;QD=5.85185;ReadPosRankSum=0.898000;SOR=0.616000;VarDP=27;AS_FS=0.00000;AS_MQ=28.3143;AS_MQRankSum=-0.358000;AS_pab_max=1.00000;AS_QUALapprox=129;AS_QD=6.45000;AS_ReadPosRankSum=0.898000;AS_SB_TABLE=7,12|2,4;AS_SOR=0.718785;AS_VarDP=20;inbreeding_coeff=-7.74228e-06;AS_culprit=AS_MQ;AS_VQSLOD=-3.10500;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|9764|2067|1136|166|21|14|1|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10363|2491|273|36|6|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0632850;cadd_phred=1.78200;phylop=0.134000;VRS_Allele_IDs=ga4gh:VA.MhvJNyLxRufTC8B1S53PhnZOkoI0N89u,ga4gh:VA.O3-GBIrpWqlPkksh_NMir89xmB8YphbY;VRS_Starts=5031475,5031475;VRS_Ends=5031476,5031476;VRS_States=C,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-577C>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-577C>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-577C>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-577C>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-577C>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-577C>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-577C>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-577C>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-577C>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031479	rs1379034701	G	A	.	AS_VQSR	AC=1;AN=26194;AF=3.81767e-05;grpmax=nfe;AC_XX=1;AF_XX=6.45411e-05;AN_XX=15494;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=10700;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=3992;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2770;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=6762;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=96;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=74;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=170;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1194;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1284;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2478;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=392;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=398;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=790;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=502;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=514;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1016;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=590;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=900;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1490;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=82;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=56;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=138;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=0.000123153;AN_nfe_XX=8120;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4068;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=8.20479e-05;AN_nfe=12188;nhomalt_nfe=0;AC_raw=1;AF_raw=7.74066e-06;AN_raw=129188;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=182;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=164;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=346;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=344;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=472;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=816;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=8.20479e-05;AN_grpmax=12188;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=28.2660;MQRankSum=-0.143000;QUALapprox=790;QD=13.8596;ReadPosRankSum=-0.0540000;SOR=0.587000;VarDP=57;AS_FS=0.00000;AS_MQ=28.2660;AS_MQRankSum=-0.143000;AS_pab_max=1.00000;AS_QUALapprox=790;AS_QD=13.8596;AS_ReadPosRankSum=-0.0540000;AS_SB_TABLE=10,17|12,18;AS_SOR=0.586530;AS_VarDP=57;inbreeding_coeff=-7.74072e-06;AS_culprit=AS_MQ;AS_VQSLOD=-4.09200;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|9763|2034|1109|164|18|8|0|0|0|0|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10303|2480|273|35|6|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.110569;cadd_phred=2.18700;phylop=0.133000;VRS_Allele_IDs=ga4gh:VA.wWv0T3V-yJf61lsEkzrqmsn7zzXNpg9d,ga4gh:VA.6bPD0gpdhwCSXC9Qsk0NOh2_MxymT5sq;VRS_Starts=5031478,5031478;VRS_Ends=5031479,5031479;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-574G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-574G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-574G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-574G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-574G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-574G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-574G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-574G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-574G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031494	.	T	G	.	AC0;AS_VQSR	AC=0;AN=26896;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=15840;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=11056;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=4118;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2870;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=6988;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=96;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=72;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=168;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1254;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1316;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2570;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=384;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=382;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=766;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=510;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=564;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1074;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=650;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=980;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1630;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=86;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=62;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=148;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8170;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4130;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=12300;nhomalt_nfe=0;AC_raw=3;AF_raw=2.34657e-05;AN_raw=127846;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=194;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=166;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=360;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=378;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=514;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=892;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=4.82164e-16;MQ=29.7231;MQRankSum=0.736000;QUALapprox=164;QD=6.07407;ReadPosRankSum=0.358000;SOR=0.793000;VarDP=27;AS_FS=0.00000;AS_MQ=30.0333;AS_MQRankSum=1.23100;AS_pab_max=1.00000;AS_QUALapprox=148;AS_QD=6.16667;AS_ReadPosRankSum=0.358000;AS_SB_TABLE=2,14|1,9;AS_SOR=0.693147;AS_VarDP=24;inbreeding_coeff=-2.34663e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.15910;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|10159|2022|1067|162|27|10|1|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10276|2821|319|27|5|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.234090;cadd_phred=3.51800;phylop=0.110000;VRS_Allele_IDs=ga4gh:VA.QRRwPcrcaU3x54awg7722j6wBSmeGgR5,ga4gh:VA.nj1wdKBdFmi7Vqqsiizl2XW_jTT81tyj;VRS_Starts=5031493,5031493;VRS_Ends=5031494,5031494;VRS_States=T,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-559T>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-559T>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-559T>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-559T>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-559T>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-559T>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-559T>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-559T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-559T>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031498	rs1160792657	A	G	.	AS_VQSR	AC=1;AN=26660;AF=3.75094e-05;grpmax=eas;AC_XX=0;AF_XX=0.00000;AN_XX=15662;nhomalt_XX=0;AC_XY=1;AF_XY=9.09256e-05;AN_XY=10998;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=4038;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2894;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=6932;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=96;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=64;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=160;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1236;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1326;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2562;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=388;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=390;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=778;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=474;nhomalt_eas_XX=0;AC_eas_XY=1;AF_eas_XY=0.00183824;AN_eas_XY=544;nhomalt_eas_XY=0;AC_eas=1;AF_eas=0.000982318;AN_eas=1018;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=652;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=978;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1630;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=74;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=62;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=136;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8156;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4078;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=12234;nhomalt_nfe=0;AC_raw=2;AF_raw=1.57126e-05;AN_raw=127286;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=196;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=160;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=356;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=352;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=502;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=854;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000982318;AN_grpmax=1018;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=3.36180;MQ=27.7104;MQRankSum=0.185000;QUALapprox=235;QD=7.83333;ReadPosRankSum=0.00000;SOR=0.283000;VarDP=30;AS_FS=0.00000;AS_MQ=27.5933;AS_MQRankSum=-1.02600;AS_pab_max=1.00000;AS_QUALapprox=225;AS_QD=12.5000;AS_ReadPosRankSum=-0.336000;AS_SB_TABLE=5,13|2,7;AS_SOR=0.835568;AS_VarDP=18;inbreeding_coeff=-1.57129e-05;AS_culprit=AS_MQ;AS_VQSLOD=-4.09280;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|10206|1984|962|138|17|6|0|0|0|0|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10110|2848|323|28|5|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.256793;cadd_phred=3.78400;phylop=0.109000;VRS_Allele_IDs=ga4gh:VA.kdsGdlmTQXEFpe7kopXty294KYCcpUAe,ga4gh:VA.tRHhbv_nt_EfMBzXL1ECWmDI1pPiKCOr;VRS_Starts=5031497,5031497;VRS_Ends=5031498,5031498;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-555A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-555A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-555A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-555A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-555A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-555A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-555A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-555A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-555A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031502	rs1440752282	C	T	.	AS_VQSR	AC=1;AN=27384;AF=3.65177e-05;grpmax=amr;AC_XX=1;AF_XX=6.21736e-05;AN_XX=16084;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=11300;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=4176;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=2964;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=7140;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=94;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=64;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=158;nhomalt_ami=0;AC_amr_XX=1;AF_amr_XX=0.000786164;AN_amr_XX=1272;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1336;nhomalt_amr_XY=0;AC_amr=1;AF_amr=0.000383436;AN_amr=2608;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=382;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=394;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=776;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=536;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=600;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1136;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=676;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1006;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1682;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=82;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=60;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=142;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8252;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4138;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=12390;nhomalt_nfe=0;AC_raw=1;AF_raw=7.87799e-06;AN_raw=126936;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=192;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=172;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=364;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=422;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=566;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=988;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000383436;AN_grpmax=2608;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=7.98662;MQ=28.5675;MQRankSum=-0.212000;QUALapprox=382;QD=12.7333;ReadPosRankSum=1.34400;SOR=0.570000;VarDP=30;AS_FS=1.65683;AS_MQ=29.5663;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=334;AS_QD=18.5556;AS_ReadPosRankSum=1.34400;AS_SB_TABLE=10,4|7,5;AS_SOR=0.312845;AS_VarDP=18;inbreeding_coeff=-7.87805e-06;AS_culprit=AS_MQ;AS_VQSLOD=-4.07700;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0;gq_hist_all_bin_freq=0|0|0|0|10410|2090|1015|144|24|8|0|0|0|0|0|0|1|0|0|0;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10325|2990|347|25|5|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0;cadd_raw_score=0.121979;cadd_phred=2.29500;phylop=0.134000;VRS_Allele_IDs=ga4gh:VA.V13GA4-C1u2xKpkZHE_XIkxL603OXcX2,ga4gh:VA.xnneiEI3-fIFAys4wQr_rWUmgMf1MZ-D;VRS_Starts=5031501,5031501;VRS_Ends=5031502,5031502;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-551C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-551C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-551C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-551C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-551C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-551C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-551C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-551C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-551C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031503	rs1377272596	G	A	.	AC0;AS_VQSR	AC=0;AN=27992;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=16432;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=11560;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=4256;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=3028;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=7284;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=94;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=64;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=158;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1290;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1372;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2662;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=402;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=396;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=798;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=556;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=614;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1170;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=710;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1034;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1744;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=82;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=60;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=142;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8406;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4230;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=12636;nhomalt_nfe=0;AC_raw=1;AF_raw=7.77001e-06;AN_raw=128700;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=198;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=178;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=376;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=438;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=584;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1022;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=6.59392;MQ=28.0857;MQRankSum=0.143000;QUALapprox=790;QD=11.6176;ReadPosRankSum=0.736000;SOR=1.52800;VarDP=68;AS_FS=6.59392;AS_MQ=28.0857;AS_MQRankSum=0.143000;AS_pab_max=1.00000;AS_QUALapprox=790;AS_QD=11.6176;AS_ReadPosRankSum=0.736000;AS_SB_TABLE=18,19|10,21;AS_SOR=1.52823;AS_VarDP=68;inbreeding_coeff=-7.77007e-06;AS_culprit=AS_MQ;AS_VQSLOD=-3.29670;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|10580|2160|1062|156|27|10|1|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10571|3046|349|26|4|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0321550;cadd_phred=1.55000;phylop=-3.16200;VRS_Allele_IDs=ga4gh:VA.xpucX4Xsenb6KEoHSFFzxQnX8muxj4dy,ga4gh:VA.hkBCSg9Z0fPzx4k-rpYLQ0uN2lkWbZq7;VRS_Starts=5031502,5031502;VRS_Ends=5031503,5031503;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-550G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-550G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-550G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-550G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-550G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-550G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-550G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-550G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-550G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031506	rs1197111748	G	C	.	AS_VQSR	AC=4;AN=28274;AF=0.000141473;grpmax=afr;fafmax_faf95_max=0.000183560;fafmax_faf95_max_gen_anc=afr;AC_XX=3;AF_XX=0.000181116;AN_XX=16564;nhomalt_XX=0;AC_XY=1;AF_XY=8.53971e-05;AN_XY=11710;nhomalt_XY=0;nhomalt=0;AC_afr_XX=3;AF_afr_XX=0.000696379;AN_afr_XX=4308;nhomalt_afr_XX=0;AC_afr_XY=1;AF_afr_XY=0.000320718;AN_afr_XY=3118;nhomalt_afr_XY=0;AC_afr=4;AF_afr=0.000538648;AN_afr=7426;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=94;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=64;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=158;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1316;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1376;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2692;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=400;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=402;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=802;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=542;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=624;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1166;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=716;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1042;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1758;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=72;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=60;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=132;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8480;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4254;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=12734;nhomalt_nfe=0;AC_raw=15;AF_raw=0.000116031;AN_raw=129276;nhomalt_raw=2;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=208;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=176;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=384;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=428;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=594;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1022;nhomalt_sas=0;AC_grpmax=4;AF_grpmax=0.000538648;AN_grpmax=7426;nhomalt_grpmax=0;faf95=4.79300e-05;faf95_afr=0.000183560;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=2.81600e-05;faf99_afr=0.000110620;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=0.000110620;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=0|0|0|0|1|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=12.0536;MQ=28.2649;MQRankSum=0.406000;QUALapprox=4568;QD=13.6766;ReadPosRankSum=0.550000;SOR=0.583000;VarDP=334;AS_FS=11.3285;AS_MQ=28.2570;AS_MQRankSum=0.365000;AS_pab_max=1.00000;AS_QUALapprox=4276;AS_QD=13.7492;AS_ReadPosRankSum=0.406000;AS_SB_TABLE=66,90|87,78;AS_SOR=0.578247;AS_VarDP=311;inbreeding_coeff=0.266582;AS_culprit=AS_MQ;AS_VQSLOD=-4.32820;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|2|3;gq_hist_all_bin_freq=0|0|0|0|10687|2126|1114|162|25|9|3|0|0|0|0|0|0|0|2|3;dp_hist_alt_bin_freq=0|0|5|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10644|3103|354|26|4|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|1|0|0|0|0|1|0|3|0|0|0|0|0|0|0;cadd_raw_score=0.0341420;cadd_phred=1.56400;phylop=0.133000;VRS_Allele_IDs=ga4gh:VA.mUcIUbelTJ1MwISTfSbQNyikbGeH0zTF,ga4gh:VA.VTwst6EhhVfOsV92Jm-0-STUGn2xYARZ;VRS_Starts=5031505,5031505;VRS_Ends=5031506,5031506;VRS_States=G,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-547G>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-547G>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-547G>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-547G>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-547G>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-547G>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-547G>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-547G>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-547G>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031506	rs1197111748	G	T	.	AC0;AS_VQSR	AC=0;AN=28262;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=16576;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=11686;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=4300;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=3082;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=7382;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=94;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=64;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=158;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1310;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1376;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2686;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=400;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=402;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=802;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=548;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=622;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1170;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=716;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1042;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1758;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=82;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=60;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=142;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8488;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4256;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=12744;nhomalt_nfe=0;AC_raw=1;AF_raw=7.73802e-06;AN_raw=129232;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=198;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=180;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=378;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=440;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=602;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1042;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=12.0536;MQ=28.2649;MQRankSum=0.406000;QUALapprox=4568;QD=13.6766;ReadPosRankSum=0.550000;SOR=0.583000;VarDP=334;AS_FS=2.50388;AS_MQ=28.3679;AS_MQRankSum=0.550000;AS_pab_max=1.00000;AS_QUALapprox=292;AS_QD=12.6957;AS_ReadPosRankSum=0.550000;AS_SB_TABLE=66,90|7,6;AS_SOR=0.614216;AS_VarDP=23;inbreeding_coeff=-7.73808e-06;AS_culprit=AS_MQ;AS_VQSLOD=-3.73640;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|10687|2126|1114|162|25|9|3|0|0|0|0|0|0|0|2|3;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10644|3103|354|26|4|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0219840;cadd_phred=1.47900;phylop=0.133000;VRS_Allele_IDs=ga4gh:VA.mUcIUbelTJ1MwISTfSbQNyikbGeH0zTF,ga4gh:VA.xBJCoJ9nyYnt69unKrjjfgSMiIzFe3pO;VRS_Starts=5031505,5031505;VRS_Ends=5031506,5031506;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-547G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-547G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-547G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-547G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-547G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-547G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-547G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-547G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-547G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031516	rs1268079486	C	T	.	AC0;AS_VQSR	AC=0;AN=28844;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=16824;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=12020;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=4434;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=3206;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=7640;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=94;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=62;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=156;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1344;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1394;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2738;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=412;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=390;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=802;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=554;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=636;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1190;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=736;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1110;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1846;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=70;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=66;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=136;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8540;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4378;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=12918;nhomalt_nfe=0;AC_raw=1;AF_raw=7.76072e-06;AN_raw=128854;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=202;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=176;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=378;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=438;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=602;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1040;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=5.81490;MQ=28.6476;MQRankSum=0.895000;QUALapprox=390;QD=20.5263;ReadPosRankSum=0.762000;SOR=2.25800;VarDP=19;AS_FS=5.81490;AS_MQ=28.6476;AS_MQRankSum=0.895000;AS_pab_max=0.343750;AS_QUALapprox=390;AS_QD=20.5263;AS_ReadPosRankSum=0.762000;AS_SB_TABLE=3,2|3,11;AS_SOR=2.25785;AS_VarDP=19;inbreeding_coeff=-7.76078e-06;AS_culprit=AS_SOR;AS_VQSLOD=-5.18100;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|11000|2164|1075|144|25|7|2|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10646|3351|390|27|3|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.101355;cadd_phred=2.10300;phylop=0.134000;VRS_Allele_IDs=ga4gh:VA.cR8EqthaFjZYU8qbXTk-QE11TjMmv65P,ga4gh:VA.tSaLIw1KVlqfE21T304GkDeHjiI6hnUA;VRS_Starts=5031515,5031515;VRS_Ends=5031516,5031516;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-537C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-537C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-537C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-537C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-537C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-537C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-537C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-537C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-537C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031531	rs1487247371	T	C	.	AS_VQSR	AC=1;AN=29838;AF=3.35143e-05;grpmax=nfe;AC_XX=1;AF_XX=5.76834e-05;AN_XX=17336;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=12502;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=4568;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=3324;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=7892;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=98;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=76;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=174;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1376;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1448;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2824;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=410;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=396;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=806;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=586;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=652;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1238;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=760;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1152;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1912;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=90;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=66;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=156;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=0.000113533;AN_nfe_XX=8808;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4588;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=7.46491e-05;AN_nfe=13396;nhomalt_nfe=0;AC_raw=3;AF_raw=2.35986e-05;AN_raw=127126;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=198;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=160;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=358;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=442;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=640;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1082;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=7.46491e-05;AN_grpmax=13396;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=7.23065;MQ=27.6589;MQRankSum=0.198000;QUALapprox=1020;QD=17.2881;ReadPosRankSum=0.922000;SOR=0.946000;VarDP=59;AS_FS=9.87506;AS_MQ=27.8423;AS_MQRankSum=0.322000;AS_pab_max=1.00000;AS_QUALapprox=817;AS_QD=17.7609;AS_ReadPosRankSum=0.922000;AS_SB_TABLE=13,9|11,20;AS_SOR=1.27332;AS_VarDP=46;inbreeding_coeff=-2.35992e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.94060;allele_type=snv;n_alt_alleles=2;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|11549|2183|1024|136|18|6|2|0|1|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10744|3710|433|28|4|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0;cadd_raw_score=0.320443;cadd_phred=4.52600;phylop=0.110000;VRS_Allele_IDs=ga4gh:VA.sjnwsU26h_6MoEeaXOPkh1W_1LK8_ofC,ga4gh:VA.dM-tL3jfdT_uIFusrWX7sTheFOvEs_Zt;VRS_Starts=5031530,5031530;VRS_Ends=5031531,5031531;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-522T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-522T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-522T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-522T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-522T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-522T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-522T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-522T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-522T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031531	rs1987127017	TC	T	.	AC0	AC=0;AN=29838;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=17336;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=12502;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=4568;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=3324;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=7892;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=98;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=76;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=174;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1376;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1448;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2824;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=410;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=396;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=806;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=586;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=652;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1238;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=760;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1152;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1912;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=90;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=66;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=156;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8808;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4588;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=13396;nhomalt_nfe=0;AC_raw=2;AF_raw=1.57324e-05;AN_raw=127126;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=198;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=160;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=358;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=442;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=640;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1082;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=7.23065;MQ=27.6589;MQRankSum=0.198000;QUALapprox=1020;QD=17.2881;ReadPosRankSum=0.922000;SOR=0.946000;VarDP=59;AS_FS=4.82164e-16;AS_MQ=27.0000;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=203;AS_QD=15.6154;AS_ReadPosRankSum=0.937000;AS_SB_TABLE=13,9|4,2;AS_SOR=0.882624;AS_VarDP=13;inbreeding_coeff=-1.57327e-05;AS_culprit=AS_FS;AS_VQSLOD=16.1303;allele_type=del;n_alt_alleles=2;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|11549|2183|1024|136|18|6|2|0|1|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10744|3710|433|28|4|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.0818690;cadd_phred=0.904000;phylop=0.110000;VRS_Allele_IDs=ga4gh:VA.YMYBkd8fsvd4_ZpECqCHSrc0u3tIZ2vl,ga4gh:VA.QX9VZSsqsbWEVPps1niV1nSRBkdlLxAf;VRS_Starts=5031530,5031531;VRS_Ends=5031532,5031532;VRS_States=TC,;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-521del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-521del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-521del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-521del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-521del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-521del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-521del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-521del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-521del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031532	rs1987126969	C	T	.	AC0;AS_VQSR	AC=0;AN=30288;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=17584;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=12704;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=4634;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=3368;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=8002;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=98;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=72;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=170;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1388;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1454;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2842;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=424;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=392;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=816;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=600;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=658;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1258;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=764;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1180;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1944;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=90;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=68;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=158;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=8934;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4690;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=13624;nhomalt_nfe=0;AC_raw=1;AF_raw=7.85534e-06;AN_raw=127302;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=204;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=168;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=372;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=448;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=654;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1102;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=30.4459;MQRankSum=0.736000;QUALapprox=322;QD=14.6364;ReadPosRankSum=-0.736000;SOR=0.646000;VarDP=22;AS_FS=0.00000;AS_MQ=30.4459;AS_MQRankSum=0.736000;AS_pab_max=1.00000;AS_QUALapprox=322;AS_QD=14.6364;AS_ReadPosRankSum=-0.736000;AS_SB_TABLE=6,4|7,5;AS_SOR=0.645547;AS_VarDP=22;inbreeding_coeff=-7.85540e-06;AS_culprit=AS_MQ;AS_VQSLOD=-4.25140;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|11691|2242|1050|134|20|7|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|10916|3757|439|28|4|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.146175;cadd_phred=2.53600;phylop=-1.38700;VRS_Allele_IDs=ga4gh:VA.kkJg6NaIWRF3OQLIeEt4IZAXqvcKn84d,ga4gh:VA.HOc1mbRHpVZTbaT7DpQPSOIc-75qmo5A;VRS_Starts=5031531,5031531;VRS_Ends=5031532,5031532;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-521C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-521C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-521C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-521C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-521C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-521C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-521C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-521C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-521C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031535	.	G	C	.	AC0;AS_VQSR	AC=0;AN=30778;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=17888;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=12890;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=4780;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=3436;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=8216;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=98;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=78;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=176;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1388;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1466;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2854;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=434;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=388;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=822;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=582;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=662;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1244;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=768;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1194;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=1962;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=90;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=70;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=160;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=9100;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4768;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=13868;nhomalt_nfe=0;AC_raw=1;AF_raw=7.80543e-06;AN_raw=128116;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=206;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=168;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=374;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=442;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=660;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1102;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=7.40363;MQ=29.7886;MQRankSum=0.00000;QUALapprox=62;QD=5.63636;ReadPosRankSum=0.720000;SOR=2.80000;VarDP=11;AS_FS=7.40363;AS_MQ=29.7886;AS_MQRankSum=0.00000;AS_pab_max=0.687500;AS_QUALapprox=62;AS_QD=5.63636;AS_ReadPosRankSum=0.720000;AS_SB_TABLE=5,3|0,3;AS_SOR=2.79999;AS_VarDP=11;inbreeding_coeff=-7.80549e-06;AS_culprit=AS_SOR;AS_VQSLOD=-5.12820;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|11952|2233|1046|128|25|5|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|11037|3863|456|29|4|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0961010;cadd_phred=2.05600;phylop=0.413000;VRS_Allele_IDs=ga4gh:VA.Lpse0phj6dguwt5BX6VkTlapVdjciuPE,ga4gh:VA.yO0wXK1ErstiyciwBQtREwTCwZD-eBcT;VRS_Starts=5031534,5031534;VRS_Ends=5031535,5031535;VRS_States=G,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-518G>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-518G>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-518G>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-518G>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-518G>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-518G>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-518G>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-518G>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-518G>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031539	rs1240581607	A	G	.	AS_VQSR	AC=1;AN=31588;AF=3.16576e-05;grpmax=nfe;AC_XX=1;AF_XX=5.48125e-05;AN_XX=18244;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=13344;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=4820;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=3536;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=8356;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=102;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=82;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=184;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1428;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1512;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2940;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=436;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=402;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=838;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=592;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=674;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1266;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=776;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1234;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2010;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=90;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=70;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=160;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=0.000106998;AN_nfe_XX=9346;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=4982;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=6.97934e-05;AN_nfe=14328;nhomalt_nfe=0;AC_raw=6;AF_raw=4.65585e-05;AN_raw=128870;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=212;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=176;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=388;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=442;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=676;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1118;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=6.97934e-05;AN_grpmax=14328;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|1|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.44649e-15;MQ=29.4419;MQRankSum=0.736000;QUALapprox=1743;QD=15.9908;ReadPosRankSum=0.406000;SOR=0.646000;VarDP=109;AS_FS=1.44649e-15;AS_MQ=29.4419;AS_MQRankSum=0.736000;AS_pab_max=1.00000;AS_QUALapprox=1743;AS_QD=15.9908;AS_ReadPosRankSum=0.406000;AS_SB_TABLE=27,17|39,26;AS_SOR=0.645547;AS_VarDP=109;inbreeding_coeff=0.333302;AS_culprit=AS_MQ;AS_VQSLOD=-3.75820;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|12241|2279|1101|139|28|5|0|0|0|0|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|11285|4004|472|29|4|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.278689;cadd_phred=4.04000;phylop=0.329000;VRS_Allele_IDs=ga4gh:VA.L-Y3I0WsB8leuUlPbQTc3sSSY53DejcA,ga4gh:VA.HSTyPnc7RGqtmjvV8HVFyFeLUcSrrPSh;VRS_Starts=5031538,5031538;VRS_Ends=5031539,5031539;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-514A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-514A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-514A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-514A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-514A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-514A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-514A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-514A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-514A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031542	.	C	A	.	AC0;AS_VQSR	AC=0;AN=31960;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=18456;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=13504;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=4888;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=3582;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=8470;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=104;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=86;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=190;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1430;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1526;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2956;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=450;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=408;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=858;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=596;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=678;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1274;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=798;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1268;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2066;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=88;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=70;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=158;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=9442;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=5030;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=14472;nhomalt_nfe=0;AC_raw=2;AF_raw=1.55528e-05;AN_raw=128594;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=214;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=170;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=384;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=446;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=686;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1132;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=4.82164e-16;MQ=28.9680;MQRankSum=-0.0670000;QUALapprox=70;QD=5.00000;ReadPosRankSum=-0.358000;SOR=0.693000;VarDP=14;AS_FS=4.82164e-16;AS_MQ=28.9680;AS_MQRankSum=-0.0670000;AS_pab_max=1.00000;AS_QUALapprox=70;AS_QD=5.00000;AS_ReadPosRankSum=-0.358000;AS_SB_TABLE=7,3|3,1;AS_SOR=0.693147;AS_VarDP=14;inbreeding_coeff=-1.55531e-05;AS_culprit=AS_MQ;AS_VQSLOD=-3.76540;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|12415|2280|1107|147|27|4|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|11371|4097|479|29|4|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0564980;cadd_phred=1.72900;phylop=0.416000;VRS_Allele_IDs=ga4gh:VA.n87nHOq2l8PGSiifnMMgv1Kb0jbg3bIu,ga4gh:VA.E-FzQkl0MYLIwieqNHkE3pc9vzNdl9Ym;VRS_Starts=5031541,5031541;VRS_Ends=5031542,5031542;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-511C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-511C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-511C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-511C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-511C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-511C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-511C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-511C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-511C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031544	rs1987127157	G	A	.	AC0;AS_VQSR	AC=0;AN=32244;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=18634;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=13610;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=4958;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=3598;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=8556;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=110;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=86;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=196;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1430;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1540;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=2970;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=452;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=402;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=854;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=604;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=682;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1286;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=790;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1286;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2076;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=84;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=70;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=154;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=9536;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=5088;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=14624;nhomalt_nfe=0;AC_raw=1;AF_raw=7.78041e-06;AN_raw=128528;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=222;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=176;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=398;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=448;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=682;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1130;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=3.42423;MQ=27.0000;MQRankSum=0.736000;QUALapprox=136;QD=12.3636;ReadPosRankSum=-0.736000;SOR=2.17900;VarDP=11;AS_FS=3.42423;AS_MQ=27.0000;AS_MQRankSum=0.736000;AS_pab_max=1.00000;AS_QUALapprox=136;AS_QD=12.3636;AS_ReadPosRankSum=-0.736000;AS_SB_TABLE=4,1|6,0;AS_SOR=2.17929;AS_VarDP=11;inbreeding_coeff=-7.78047e-06;AS_culprit=AS_SOR;AS_VQSLOD=-5.89280;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|12531|2291|1122|145|26|7|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|11422|4176|491|29|4|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0734460;cadd_phred=1.86400;phylop=0.413000;VRS_Allele_IDs=ga4gh:VA.AiWYwc6S5cuHwxoDQJ57aDs4_n4hQRt7,ga4gh:VA.RJeOdPOqys66hoBpUXMRenl1rb_trpGY;VRS_Starts=5031543,5031543;VRS_Ends=5031544,5031544;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-509G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-509G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-509G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-509G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-509G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-509G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-509G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-509G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-509G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031550	rs1272860739	C	T	.	AS_VQSR	AC=2;AN=33344;AF=5.99808e-05;grpmax=nfe;fafmax_faf95_max=2.27900e-05;fafmax_faf95_max_gen_anc=nfe;AC_XX=0;AF_XX=0.00000;AN_XX=19264;nhomalt_XX=0;AC_XY=2;AF_XY=0.000142045;AN_XY=14080;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5162;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=3730;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=8892;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=118;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=98;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=216;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1476;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1566;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=3042;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=458;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=418;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=876;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=612;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=698;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1310;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=800;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1338;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2138;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=90;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=66;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=156;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=9854;nhomalt_nfe_XX=0;AC_nfe_XY=2;AF_nfe_XY=0.000377501;AN_nfe_XY=5298;nhomalt_nfe_XY=0;AC_nfe=2;AF_nfe=0.000131996;AN_nfe=15152;nhomalt_nfe=0;AC_raw=2;AF_raw=1.55555e-05;AN_raw=128572;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=232;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=186;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=418;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=462;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=682;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1144;nhomalt_sas=0;AC_grpmax=2;AF_grpmax=0.000131996;AN_grpmax=15152;nhomalt_grpmax=0;faf95=9.93000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=2.27900e-05;faf95_sas=0.00000;faf99=3.72000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=9.14000e-06;faf99_sas=0.00000;fafmax_faf99_max=9.14000e-06;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|0|0|0|1|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=10.4310;MQ=31.0242;MQRankSum=-0.935000;QUALapprox=469;QD=14.6563;ReadPosRankSum=1.09300;SOR=2.83300;VarDP=32;AS_FS=10.4310;AS_MQ=31.0242;AS_MQRankSum=-0.935000;AS_pab_max=1.00000;AS_QUALapprox=469;AS_QD=14.6563;AS_ReadPosRankSum=1.09300;AS_SB_TABLE=8,5|17,2;AS_SOR=2.83321;AS_VarDP=32;inbreeding_coeff=-1.55557e-05;AS_culprit=AS_SOR;AS_VQSLOD=-5.13220;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|2;gq_hist_all_bin_freq=0|0|0|0|13030|2358|1094|148|29|10|1|0|0|0|0|0|0|0|0|2;dp_hist_alt_bin_freq=0|0|2|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|11697|4411|526|34|4|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|1|0|1|0|0|0|0|0|0|0;cadd_raw_score=0.0911860;cadd_phred=2.01300;phylop=0.416000;VRS_Allele_IDs=ga4gh:VA.sqJ6uE9PJ7ziv17p-fVek8-5rVEy7TSZ,ga4gh:VA.h95Qxcfp-6IRHqC7tSobe4loAgyRhaE1;VRS_Starts=5031549,5031549;VRS_Ends=5031550,5031550;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-503C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-503C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-503C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-503C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-503C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-503C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-503C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-503C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-503C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031552	rs1234887831	T	C	.	AC0;AS_VQSR	AC=0;AN=33466;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=19328;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=14138;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5174;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=3730;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=8904;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=118;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=98;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=216;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1480;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1582;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=3062;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=464;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=412;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=876;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=620;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=710;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1330;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=812;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1338;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2150;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=90;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=66;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=156;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=9878;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=5340;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=15218;nhomalt_nfe=0;AC_raw=14;AF_raw=0.000108963;AN_raw=128484;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=234;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=186;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=420;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=458;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=676;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1134;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=7.88098;MQ=29.4229;MQRankSum=0.358000;QUALapprox=5017;QD=21.9083;ReadPosRankSum=0.322000;SOR=1.16500;VarDP=229;AS_FS=6.85209;AS_MQ=29.4432;AS_MQRankSum=0.358000;AS_pab_max=1.00000;AS_QUALapprox=4998;AS_QD=22.0176;AS_ReadPosRankSum=0.322000;AS_SB_TABLE=58,39|90,41;AS_SOR=1.14986;AS_VarDP=227;inbreeding_coeff=-0.000108975;AS_culprit=AS_MQ;AS_VQSLOD=-4.28360;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|13143|2340|1064|150|25|10|1|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|11672|4485|536|36|4|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.00810000;cadd_phred=1.28500;phylop=-0.615000;VRS_Allele_IDs=ga4gh:VA.7mqhuLurInDGCjM0yP8sEn2ffhHGiT4a,ga4gh:VA.fXOXx629ouVXru3I0B1lKeqrh6gDAi8n;VRS_Starts=5031551,5031551;VRS_Ends=5031552,5031552;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-501T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-501T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-501T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-501T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-501T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-501T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-501T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-501T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-501T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031559	.	A	T	.	AS_VQSR	AC=1;AN=34106;AF=2.93204e-05;grpmax=sas;AC_XX=1;AF_XX=5.09061e-05;AN_XX=19644;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=14462;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5362;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=3850;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9212;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=126;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=110;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=236;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1496;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1618;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=3114;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=466;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=384;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=850;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=614;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=714;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1328;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=766;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1352;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2118;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=68;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=68;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=136;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=10040;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=5472;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=15512;nhomalt_nfe=0;AC_raw=1;AF_raw=7.89291e-06;AN_raw=126696;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=254;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=212;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=466;nhomalt_remaining=0;AC_sas_XX=1;AF_sas_XX=0.00221239;AN_sas_XX=452;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=682;nhomalt_sas_XY=0;AC_sas=1;AF_sas=0.000881834;AN_sas=1134;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000881834;AN_grpmax=1134;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=5.48522;MQ=31.0508;MQRankSum=-0.358000;QUALapprox=179;QD=5.42424;ReadPosRankSum=0.248000;SOR=1.57900;VarDP=33;AS_FS=1.86192;AS_MQ=30.8672;AS_MQRankSum=-0.480000;AS_pab_max=0.625000;AS_QUALapprox=96;AS_QD=4.17391;AS_ReadPosRankSum=0.248000;AS_SB_TABLE=12,11|2,4;AS_SOR=1.28919;AS_VarDP=23;inbreeding_coeff=-7.89297e-06;AS_culprit=AS_MQ;AS_VQSLOD=-2.99540;allele_type=snv;n_alt_alleles=3;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|13623|2339|926|125|23|2|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|11603|4792|594|45|4|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.174167;cadd_phred=2.83400;phylop=0.329000;VRS_Allele_IDs=ga4gh:VA.FqQ5ugoWeTBXx3PD3r2ZhnfYMSikRfFQ,ga4gh:VA.KCEtsQFs7hLTVhs3sJrYHXesaOyWIPVu;VRS_Starts=5031558,5031558;VRS_Ends=5031559,5031559;VRS_States=A,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-494A>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-494A>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-494A>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-494A>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-494A>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-494A>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-494A>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-494A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-494A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031561	rs1331349528	T	C	.	AC0;AS_VQSR	AC=0;AN=35602;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=20488;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=15114;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5568;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4066;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=9634;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=124;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=120;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=244;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1584;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1680;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=3264;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=482;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=402;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=884;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=628;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=730;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1358;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=786;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1414;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2200;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=74;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=68;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=142;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=10526;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=5736;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=16262;nhomalt_nfe=0;AC_raw=14;AF_raw=0.000108772;AN_raw=128710;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=260;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=210;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=470;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=456;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=688;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1144;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=5.92217;MQ=29.7377;MQRankSum=0.00000;QUALapprox=5329;QD=22.6766;ReadPosRankSum=-0.289000;SOR=1.09400;VarDP=235;AS_FS=5.92217;AS_MQ=29.7377;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=5329;AS_QD=22.6766;AS_ReadPosRankSum=-0.289000;AS_SB_TABLE=66,36|96,37;AS_SOR=1.09432;AS_VarDP=235;inbreeding_coeff=-0.000108783;AS_culprit=AS_MQ;AS_VQSLOD=-4.48500;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|14219|2443|962|135|22|1|1|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|12131|4972|630|45|5|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=-0.00175800;cadd_phred=1.32400;phylop=-0.518000;VRS_Allele_IDs=ga4gh:VA.WWAJqOfF-Cht7gpZEyNRtZsV2-hitwW7,ga4gh:VA.GWUCaA5wXRnUkAEO4uiBcJRyjqMTlFE4;VRS_Starts=5031560,5031560;VRS_Ends=5031561,5031561;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-492T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-492T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-492T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-492T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-492T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-492T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-492T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-492T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-492T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031563	rs1316969644	C	T	.	AS_VQSR	AC=2;AN=36312;AF=5.50782e-05;grpmax=afr;AC_XX=1;AF_XX=4.77099e-05;AN_XX=20960;nhomalt_XX=0;AC_XY=1;AF_XY=6.51381e-05;AN_XY=15352;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5708;nhomalt_afr_XX=0;AC_afr_XY=1;AF_afr_XY=0.000242248;AN_afr_XY=4128;nhomalt_afr_XY=0;AC_afr=1;AF_afr=0.000101667;AN_afr=9836;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=140;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=120;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=260;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1604;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1712;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=3316;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=506;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=408;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=914;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=634;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=726;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1360;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=786;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1414;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2200;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=86;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=68;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=154;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=9.27644e-05;AN_nfe_XX=10780;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=5864;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=6.00817e-05;AN_nfe=16644;nhomalt_nfe=0;AC_raw=12;AF_raw=9.34070e-05;AN_raw=128470;nhomalt_raw=3;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=246;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=210;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=456;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=470;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=702;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1172;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000101667;AN_grpmax=9836;nhomalt_grpmax=0;faf95=9.12000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=3.41000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=1;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.778685;MQ=28.9559;MQRankSum=0.727000;QUALapprox=1778;QD=15.4609;ReadPosRankSum=-0.146000;SOR=0.601000;VarDP=115;AS_FS=0.789753;AS_MQ=29.0065;AS_MQRankSum=0.550000;AS_pab_max=1.00000;AS_QUALapprox=1731;AS_QD=15.4554;AS_ReadPosRankSum=-0.146000;AS_SB_TABLE=36,13|45,19;AS_SOR=0.563819;AS_VarDP=112;inbreeding_coeff=0.499953;AS_culprit=AS_MQ;AS_VQSLOD=-4.21710;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|14529|2467|978|154|21|5|1|0|0|0|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|1|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|12325|5121|654|51|5|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|1|0|0|0;cadd_raw_score=-0.130415;cadd_phred=0.717000;phylop=-0.405000;VRS_Allele_IDs=ga4gh:VA.ASaK4d0LvEsqP0ZxTAqVbv2QKzHyjaae,ga4gh:VA.JZSAsGtjvRqUePh9tubuNDCXhnDz5x4_;VRS_Starts=5031562,5031562;VRS_Ends=5031563,5031563;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-490C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-490C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-490C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-490C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-490C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-490C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-490C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-490C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-490C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031564	rs1397637879	G	A	.	AS_VQSR	AC=3;AN=36718;AF=8.17038e-05;grpmax=amr;fafmax_faf95_max=3.51000e-05;fafmax_faf95_max_gen_anc=afr;AC_XX=2;AF_XX=9.42507e-05;AN_XX=21220;nhomalt_XX=0;AC_XY=1;AF_XY=6.45245e-05;AN_XY=15498;nhomalt_XY=0;nhomalt=0;AC_afr_XX=2;AF_afr_XX=0.000344947;AN_afr_XX=5798;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4158;nhomalt_afr_XY=0;AC_afr=2;AF_afr=0.000200884;AN_afr=9956;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=140;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=124;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=264;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1624;nhomalt_amr_XX=0;AC_amr_XY=1;AF_amr_XY=0.000576037;AN_amr_XY=1736;nhomalt_amr_XY=0;AC_amr=1;AF_amr=0.000297619;AN_amr=3360;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=518;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=418;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=936;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=622;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=724;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1346;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=782;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1428;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2210;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=90;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=68;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=158;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=10930;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=5942;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=16872;nhomalt_nfe=0;AC_raw=18;AF_raw=0.000139500;AN_raw=129032;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=252;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=212;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=464;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=464;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=688;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1152;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000297619;AN_grpmax=3360;nhomalt_grpmax=0;faf95=2.16600e-05;faf95_afr=3.51000e-05;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=1.10000e-05;faf99_afr=1.43500e-05;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=1.43500e-05;fafmax_faf99_max_gen_anc=afr;age_hist_het_bin_freq=0|1|0|0|1|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=7.15206;MQ=29.9028;MQRankSum=0.00000;QUALapprox=5909;QD=21.2554;ReadPosRankSum=0.358000;SOR=1.09000;VarDP=278;AS_FS=7.15206;AS_MQ=29.9028;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=5909;AS_QD=21.2554;AS_ReadPosRankSum=0.358000;AS_SB_TABLE=79,42|114,43;AS_SOR=1.08976;AS_VarDP=278;inbreeding_coeff=-0.000139520;AS_culprit=AS_MQ;AS_VQSLOD=-4.06390;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|3;gq_hist_all_bin_freq=0|0|0|0|14759|2455|976|147|17|1|1|0|0|0|0|0|0|0|0|3;dp_hist_alt_bin_freq=0|0|3|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|12453|5184|665|51|6|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|1|0|0|1|1|0|0|0|0|0|0|0;cadd_raw_score=0.0824810;cadd_phred=1.93900;phylop=-1.45800;VRS_Allele_IDs=ga4gh:VA.GS5tTg6yorVJlz3GOy7-t1bT6GV1prET,ga4gh:VA.6fYicvZdfpHtAaa4O2k3yDlNsEAE1AL_;VRS_Starts=5031563,5031563;VRS_Ends=5031564,5031564;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-489G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-489G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-489G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-489G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-489G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-489G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-489G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-489G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-489G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031566	rs1987127708	C	G	.	AC0;AS_VQSR	AC=0;AN=37794;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=21792;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=16002;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=5958;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=4280;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=10238;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=148;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=126;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=274;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1662;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=1814;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=3476;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=538;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=424;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=962;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=642;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=740;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1382;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=784;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1482;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2266;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=90;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=66;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=156;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=11240;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=6152;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=17392;nhomalt_nfe=0;AC_raw=1;AF_raw=7.70440e-06;AN_raw=129796;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=262;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=218;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=480;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=468;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=700;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1168;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=6.45526;MQ=30.3736;MQRankSum=-0.573000;QUALapprox=167;QD=18.5556;ReadPosRankSum=-1.00100;SOR=2.24500;VarDP=9;AS_FS=6.45526;AS_MQ=30.3736;AS_MQRankSum=-0.573000;AS_pab_max=0.507813;AS_QUALapprox=167;AS_QD=18.5556;AS_ReadPosRankSum=-1.00100;AS_SB_TABLE=1,2|5,1;AS_SOR=2.24543;AS_VarDP=9;inbreeding_coeff=-7.70446e-06;AS_culprit=AS_SOR;AS_VQSLOD=-5.56380;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|15259|2480|981|148|23|5|1|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|12795|5350|692|54|6|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0656920;cadd_phred=1.80100;phylop=-0.434000;VRS_Allele_IDs=ga4gh:VA.vqjxitQBHJyD4bbmemQ1Xw_IQD8isubi,ga4gh:VA.2pYdW09DZDsia3Oh0FoXXEy4zBr3l6Pq;VRS_Starts=5031565,5031565;VRS_Ends=5031566,5031566;VRS_States=C,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-487C>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-487C>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-487C>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-487C>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-487C>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-487C>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-487C>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-487C>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-487C>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031581	rs1359161814	A	T	.	AS_VQSR	AC=1;AN=44522;AF=2.24608e-05;grpmax=sas;AC_XX=1;AF_XX=3.95194e-05;AN_XX=25304;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=19218;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=6978;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=5254;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=12232;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=178;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=158;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=336;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1960;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2052;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=4012;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=634;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=494;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1128;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=702;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=798;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1500;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=802;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1764;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2566;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=78;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=74;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=152;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=13172;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=7614;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=20786;nhomalt_nfe=0;AC_raw=10;AF_raw=7.52842e-05;AN_raw=132830;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=300;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=246;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=546;nhomalt_remaining=0;AC_sas_XX=1;AF_sas_XX=0.00200000;AN_sas_XX=500;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=764;nhomalt_sas_XY=0;AC_sas=1;AF_sas=0.000791139;AN_sas=1264;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=0.000791139;AN_grpmax=1264;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.55733;MQ=30.3741;MQRankSum=0.264000;QUALapprox=2492;QD=15.7722;ReadPosRankSum=0.361000;SOR=0.869000;VarDP=158;AS_FS=1.55733;AS_MQ=30.3741;AS_MQRankSum=0.264000;AS_pab_max=1.00000;AS_QUALapprox=2492;AS_QD=15.7722;AS_ReadPosRankSum=0.361000;AS_SB_TABLE=50,15|74,19;AS_SOR=0.868815;AS_VarDP=158;inbreeding_coeff=0.199940;AS_culprit=AS_MQ;AS_VQSLOD=-3.43480;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|18000|2747|1222|206|41|11|9|0|0|0|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|14889|6399|867|75|7|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0;cadd_raw_score=0.201371;cadd_phred=3.13900;phylop=0.329000;VRS_Allele_IDs=ga4gh:VA.tChWj2j2g5CLhCCCJKl-EX1DQMEeLetO,ga4gh:VA.yxzTn4sNflIOIrRBnVoeyqCf4uYIAlUg;VRS_Starts=5031580,5031580;VRS_Ends=5031581,5031581;VRS_States=A,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-472A>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-472A>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-472A>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-472A>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-472A>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-472A>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-472A>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-472A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-472A>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031584	rs1300654481	A	G	.	AS_VQSR	AC=6;AN=45464;AF=0.000131973;grpmax=amr;fafmax_faf95_max=0.000335310;fafmax_faf95_max_gen_anc=amr;AC_XX=5;AF_XX=0.000194145;AN_XX=25754;nhomalt_XX=0;AC_XY=1;AF_XY=5.07357e-05;AN_XY=19710;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=7152;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=5404;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=12556;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=176;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=160;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=336;nhomalt_ami=0;AC_amr_XX=3;AF_amr_XX=0.00152439;AN_amr_XX=1968;nhomalt_amr_XX=0;AC_amr_XY=1;AF_amr_XY=0.000476190;AN_amr_XY=2100;nhomalt_amr_XY=0;AC_amr=4;AF_amr=0.000983284;AN_amr=4068;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=644;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=500;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1144;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=718;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=810;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1528;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=810;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1794;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2604;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=74;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=72;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=146;nhomalt_mid=0;AC_nfe_XX=2;AF_nfe_XX=0.000149098;AN_nfe_XX=13414;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=7828;nhomalt_nfe_XY=0;AC_nfe=2;AF_nfe=9.41531e-05;AN_nfe=21242;nhomalt_nfe=0;AC_raw=12;AF_raw=9.01849e-05;AN_raw=133060;nhomalt_raw=2;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=306;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=250;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=556;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=492;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=792;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1284;nhomalt_sas=0;AC_grpmax=4;AF_grpmax=0.000983284;AN_grpmax=4068;nhomalt_grpmax=0;faf95=5.72600e-05;faf95_afr=0.00000;faf95_amr=0.000335310;faf95_eas=0.00000;faf95_nfe=1.65700e-05;faf95_sas=0.00000;faf99=3.90000e-05;faf99_afr=0.00000;faf99_amr=0.000202170;faf99_eas=0.00000;faf99_nfe=6.82000e-06;faf99_sas=0.00000;fafmax_faf99_max=0.000202170;fafmax_faf99_max_gen_anc=amr;age_hist_het_bin_freq=0|0|0|0|0|0|0|1|0|0;age_hist_het_n_smaller=1;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=2.32289;MQ=30.3893;MQRankSum=-0.289000;QUALapprox=4935;QD=15.4219;ReadPosRankSum=0.255000;SOR=0.537000;VarDP=320;AS_FS=2.32289;AS_MQ=30.3893;AS_MQRankSum=-0.289000;AS_pab_max=1.00000;AS_QUALapprox=4935;AS_QD=15.4219;AS_ReadPosRankSum=0.255000;AS_SB_TABLE=111,28|139,42;AS_SOR=0.536896;AS_VarDP=320;inbreeding_coeff=0.333273;AS_culprit=AS_MQ;AS_VQSLOD=-3.69770;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|1|4;gq_hist_all_bin_freq=0|0|0|0|18455|2746|1242|197|45|10|2|0|1|1|0|0|0|0|1|4;dp_hist_alt_bin_freq=0|0|3|3|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|15150|6571|895|81|7|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|2|0|0|1|1|1|1|0|0|0|0|0|0|0;cadd_raw_score=0.226375;cadd_phred=3.42800;phylop=0.135000;VRS_Allele_IDs=ga4gh:VA.ALVELOAk63xnJnKCARmpW3LDurTwa6Gv,ga4gh:VA.1dby5BF1Hc2g310PAvfJBvr6lh_7rsKz;VRS_Starts=5031583,5031583;VRS_Ends=5031584,5031584;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-469A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-469A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-469A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-469A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-469A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-469A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-469A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-469A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-469A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031586	rs1420690285	A	G	.	AS_VQSR	AC=1;AN=46284;AF=2.16057e-05;grpmax=nfe;AC_XX=1;AF_XX=3.81185e-05;AN_XX=26234;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=20050;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=7260;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=5440;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=12700;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=180;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=166;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=346;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=1982;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2132;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=4114;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=660;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=508;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1168;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=734;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=822;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1556;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=804;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1848;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2652;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=92;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=76;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=168;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=7.29288e-05;AN_nfe_XX=13712;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=8006;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=4.60448e-05;AN_nfe=21718;nhomalt_nfe=0;AC_raw=3;AF_raw=2.24850e-05;AN_raw=133422;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=300;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=244;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=544;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=510;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=808;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1318;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=4.60448e-05;AN_grpmax=21718;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=5.71916;MQ=30.8603;MQRankSum=-1.22100;QUALapprox=680;QD=16.1905;ReadPosRankSum=1.23100;SOR=2.02700;VarDP=42;AS_FS=5.71916;AS_MQ=30.8603;AS_MQRankSum=-1.22100;AS_pab_max=1.00000;AS_QUALapprox=680;AS_QD=16.1905;AS_ReadPosRankSum=1.23100;AS_SB_TABLE=11,6|21,4;AS_SOR=2.02654;AS_VarDP=42;inbreeding_coeff=0.666659;AS_culprit=AS_MQ;AS_VQSLOD=-3.63710;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|18811|2794|1277|204|41|10|3|0|1|0|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|15436|6686|928|84|8|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.240076;cadd_phred=3.58800;phylop=0.342000;VRS_Allele_IDs=ga4gh:VA.FVvYu-MClsuciksdVP40Cy5vAO5XtfD2,ga4gh:VA.ZoCG5wgsknyH0rXIqWKyCaCf_Cl5ctOT;VRS_Starts=5031585,5031585;VRS_Ends=5031586,5031586;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-467A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-467A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-467A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-467A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-467A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-467A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-467A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-467A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-467A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031593	.	C	A	.	AC0;AS_VQSR	AC=0;AN=48988;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=27608;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=21380;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=7622;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=5764;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=13386;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=182;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=174;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=356;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2086;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2298;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=4384;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=712;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=542;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1254;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=724;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=820;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1544;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=846;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1996;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2842;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=94;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=76;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=170;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=14520;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=8614;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=23134;nhomalt_nfe=0;AC_raw=1;AF_raw=7.44668e-06;AN_raw=134288;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=308;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=262;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=570;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=514;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=834;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1348;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=2.96284;MQ=31.5640;MQRankSum=0.358000;QUALapprox=70;QD=5.00000;ReadPosRankSum=1.23100;SOR=0.148000;VarDP=14;AS_FS=2.96284;AS_MQ=31.5640;AS_MQRankSum=0.358000;AS_pab_max=1.00000;AS_QUALapprox=70;AS_QD=5.00000;AS_ReadPosRankSum=1.23100;AS_SB_TABLE=9,1|3,1;AS_SOR=0.148420;AS_VarDP=14;inbreeding_coeff=-7.44674e-06;AS_culprit=AS_MQ;AS_VQSLOD=-3.05730;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|19916|3000|1327|203|39|9|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|16243|7135|1013|94|9|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0205480;cadd_phred=1.46900;phylop=-0.384000;VRS_Allele_IDs=ga4gh:VA.K7X2UB2FHOq9zjsg2FQ7l5vzZWNXy0Me,ga4gh:VA.rup9f_PRDK_AM0ZLTMBb_GZsbJh-7kYx;VRS_Starts=5031592,5031592;VRS_Ends=5031593,5031593;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-460C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-460C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-460C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-460C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-460C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-460C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-460C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-460C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-460C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031594	rs1401862597	T	C	.	AS_VQSR	AC=4;AN=49278;AF=8.11721e-05;grpmax=eas;fafmax_faf95_max=0.000877210;fafmax_faf95_max_gen_anc=eas;AC_XX=3;AF_XX=0.000108217;AN_XX=27722;nhomalt_XX=0;AC_XY=1;AF_XY=4.63908e-05;AN_XY=21556;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=7676;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=5842;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=13518;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=182;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=176;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=358;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2102;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2308;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=4410;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=722;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=538;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1260;nhomalt_asj=0;AC_eas_XX=3;AF_eas_XX=0.00415512;AN_eas_XX=722;nhomalt_eas_XX=0;AC_eas_XY=1;AF_eas_XY=0.00119904;AN_eas_XY=834;nhomalt_eas_XY=0;AC_eas=4;AF_eas=0.00257069;AN_eas=1556;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=854;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=1986;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2840;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=82;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=74;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=156;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=14552;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=8692;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=23244;nhomalt_nfe=0;AC_raw=17;AF_raw=0.000126338;AN_raw=134560;nhomalt_raw=3;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=326;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=266;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=592;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=504;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=840;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1344;nhomalt_sas=0;AC_grpmax=4;AF_grpmax=0.00257069;AN_grpmax=1556;nhomalt_grpmax=0;faf95=2.69300e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.000877210;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=1.57500e-05;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.000528340;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=0.000528340;fafmax_faf99_max_gen_anc=eas;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=30.6318;MQRankSum=0.406000;QUALapprox=4884;QD=26.4000;ReadPosRankSum=0.295000;SOR=0.720000;VarDP=185;AS_FS=0.00000;AS_MQ=30.6318;AS_MQRankSum=0.406000;AS_pab_max=1.00000;AS_QUALapprox=4884;AS_QD=26.4000;AS_ReadPosRankSum=0.295000;AS_SB_TABLE=58,9|102,16;AS_SOR=0.720063;AS_VarDP=185;inbreeding_coeff=0.352859;AS_culprit=AS_MQ;AS_VQSLOD=-3.94850;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|4;gq_hist_all_bin_freq=0|0|0|0|20044|2990|1312|211|34|7|1|0|1|0|0|0|0|0|0|4;dp_hist_alt_bin_freq=0|0|2|1|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|16290|7180|1029|95|10|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|1|0|0|0|0|3|0|0|0|0|0|0|0;cadd_raw_score=-0.00510200;cadd_phred=1.30400;phylop=-3.34900;VRS_Allele_IDs=ga4gh:VA.a8soK_SIignspLfXhCV1Tz_mxjp3Ggoh,ga4gh:VA.80et6LADdp7ORp76xoYktybVz7FGYQxs;VRS_Starts=5031593,5031593;VRS_Ends=5031594,5031594;VRS_States=T,C;vep=C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-459T>C|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-459T>C|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-459T>C|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,C|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-459T>C|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,C|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-459T>C|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-459T>C|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-459T>C|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-459T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,C|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-459T>C|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031595	rs1171205239	A	G	.	AS_VQSR	AC=4;AN=50016;AF=7.99744e-05;grpmax=eas;fafmax_faf95_max=0.000877210;fafmax_faf95_max_gen_anc=eas;AC_XX=3;AF_XX=0.000106617;AN_XX=28138;nhomalt_XX=0;AC_XY=1;AF_XY=4.57080e-05;AN_XY=21878;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=7770;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=5938;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=13708;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=188;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=180;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=368;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2114;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2354;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=4468;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=736;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=562;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1298;nhomalt_asj=0;AC_eas_XX=3;AF_eas_XX=0.00414365;AN_eas_XX=724;nhomalt_eas_XX=0;AC_eas_XY=1;AF_eas_XY=0.00120192;AN_eas_XY=832;nhomalt_eas_XY=0;AC_eas=4;AF_eas=0.00257069;AN_eas=1556;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=856;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2036;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=2892;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=80;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=76;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=156;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=14852;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=8802;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=23654;nhomalt_nfe=0;AC_raw=15;AF_raw=0.000110950;AN_raw=135196;nhomalt_raw=2;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=326;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=268;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=594;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=492;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=830;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1322;nhomalt_sas=0;AC_grpmax=4;AF_grpmax=0.00257069;AN_grpmax=1556;nhomalt_grpmax=0;faf95=2.66500e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.000877210;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=1.55600e-05;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.000528340;faf99_nfe=0.00000;faf99_sas=0.00000;fafmax_faf99_max=0.000528340;fafmax_faf99_max_gen_anc=eas;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=4.82164e-16;MQ=31.1656;MQRankSum=-0.177000;QUALapprox=4766;QD=23.3627;ReadPosRankSum=0.271000;SOR=0.653000;VarDP=204;AS_FS=0.00000;AS_MQ=30.9682;AS_MQRankSum=-0.177000;AS_pab_max=1.00000;AS_QUALapprox=4731;AS_QD=24.1378;AS_ReadPosRankSum=0.322000;AS_SB_TABLE=74,9|105,14;AS_SOR=0.635403;AS_VarDP=196;inbreeding_coeff=0.266585;AS_culprit=AS_MQ;AS_VQSLOD=-3.69120;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|4;gq_hist_all_bin_freq=0|0|0|0|20289|3034|1382|225|30|8|1|0|1|0|0|0|0|0|0|4;dp_hist_alt_bin_freq=0|0|2|1|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|16561|7262|1043|96|12|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|1|0|0|0|0|3|0|0|0|0|0|0|0;cadd_raw_score=0.000678000;cadd_phred=1.34000;phylop=-3.61200;VRS_Allele_IDs=ga4gh:VA.ihEbB1SYgWXeYWG0OFakUMdONIKHFeFQ,ga4gh:VA.9xQ4cgJnOgM87mCagr5wR_ZXXPm8ZRB2;VRS_Starts=5031594,5031594;VRS_Ends=5031595,5031595;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-458A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-458A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-458A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-458A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-458A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-458A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-458A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-458A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-458A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031598	rs1987128260	C	T	.	AC0;AS_VQSR	AC=0;AN=51058;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=28688;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=22370;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=7906;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=6040;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=13946;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=188;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=184;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=372;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2158;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2416;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=4574;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=742;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=564;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1306;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=752;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=844;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1596;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=884;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2116;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=3000;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=94;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=76;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=170;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=15130;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=8986;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=24116;nhomalt_nfe=0;AC_raw=2;AF_raw=1.47087e-05;AN_raw=135974;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=324;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=276;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=600;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=510;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=868;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1378;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=30.0533;QUALapprox=225;QD=45.0000;SOR=1.98100;VarDP=5;AS_FS=.;AS_MQ=30.0533;AS_QUALapprox=225;AS_QD=45.0000;AS_SB_TABLE=0,0|4,1;AS_SOR=1.98100;AS_VarDP=5;inbreeding_coeff=1.00000;AS_culprit=AS_QD;AS_VQSLOD=-5.11390;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|20611|3149|1462|249|39|13|4|1|1|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|16903|7428|1086|100|12|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0749940;cadd_phred=1.87700;phylop=-1.48100;VRS_Allele_IDs=ga4gh:VA.tq3cnVzM9YECHt_reUD610WWprWsQuR6,ga4gh:VA.vF9Pt8Ki1XLG78iqTK7l4rEd5aAo27L5;VRS_Starts=5031597,5031597;VRS_Ends=5031598,5031598;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-455C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-455C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-455C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-455C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-455C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-455C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-455C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-455C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-455C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031599	rs1987128337	A	G	.	AC0;AS_VQSR	AC=0;AN=51094;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=28662;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=22432;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=7888;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=6008;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=13896;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=188;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=186;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=374;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2154;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2440;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=4594;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=750;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=574;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1324;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=728;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=846;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1574;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=876;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2138;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=3014;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=76;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=174;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=15180;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=9044;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=24224;nhomalt_nfe=0;AC_raw=2;AF_raw=1.47115e-05;AN_raw=135948;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=316;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=278;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=594;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=484;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=842;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1326;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=2.56558;MQ=31.0058;MQRankSum=-0.627000;QUALapprox=609;QD=24.3600;ReadPosRankSum=1.10900;SOR=0.314000;VarDP=25;AS_FS=2.56558;AS_MQ=31.0058;AS_MQRankSum=-0.627000;AS_pab_max=0.790527;AS_QUALapprox=609;AS_QD=24.3600;AS_ReadPosRankSum=1.10900;AS_SB_TABLE=6,0|16,3;AS_SOR=0.313805;AS_VarDP=25;inbreeding_coeff=1.00000;AS_culprit=AS_MQ;AS_VQSLOD=-4.22020;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|20695|3144|1429|234|31|14|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|16926|7402|1105|102|12|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.00971200;cadd_phred=1.39700;phylop=-3.91700;VRS_Allele_IDs=ga4gh:VA.gUzQ7-74f1MotZsybpwXYW951khzSWR8,ga4gh:VA.PBae6s66RebWP7AwlUY99iT8v8zhI_O1;VRS_Starts=5031598,5031598;VRS_Ends=5031599,5031599;VRS_States=A,G;vep=G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-454A>G|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-454A>G|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-454A>G|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,G|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-454A>G|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,G|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-454A>G|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-454A>G|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-454A>G|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-454A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,G|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-454A>G|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031602	rs1479103161	G	T	.	AC0;AS_VQSR	AC=0;AN=52308;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=29252;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=23056;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=8034;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=6184;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=14218;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=186;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=188;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=374;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2216;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2494;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=4710;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=740;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=578;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1318;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=778;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=882;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1660;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=910;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2198;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=3108;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=98;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=78;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=176;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=15430;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=9264;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=24694;nhomalt_nfe=0;AC_raw=1;AF_raw=7.31315e-06;AN_raw=136740;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=336;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=286;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=622;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=524;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=904;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1428;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=3.67977;MQ=29.2135;MQRankSum=-0.937000;QUALapprox=109;QD=15.5714;ReadPosRankSum=-1.30000;SOR=0.0610000;VarDP=7;AS_FS=3.67977;AS_MQ=29.2135;AS_MQRankSum=-0.937000;AS_pab_max=1.00000;AS_QUALapprox=109;AS_QD=15.5714;AS_ReadPosRankSum=-1.30000;AS_SB_TABLE=3,0|2,2;AS_SOR=0.0606246;AS_VarDP=7;inbreeding_coeff=-7.31320e-06;AS_culprit=AS_MQ;AS_VQSLOD=-5.90410;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|20956|3259|1582|283|42|27|5|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|17282|7612|1143|105|12|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.0814490;cadd_phred=1.93000;phylop=0.404000;VRS_Allele_IDs=ga4gh:VA.5qiQFwDIlvEtEmJ6iAokh-vXJ-aB1VV7,ga4gh:VA.S7XrA3pCqTsqUJKXihQXPE52829IP3gH;VRS_Starts=5031601,5031601;VRS_Ends=5031602,5031602;VRS_States=G,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-451G>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-451G>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-451G>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-451G>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-451G>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-451G>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-451G>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-451G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-451G>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031610	rs1987128598	C	T	.	AS_VQSR	AC=1;AN=53912;AF=1.85487e-05;grpmax=afr;AC_XX=1;AF_XX=3.32624e-05;AN_XX=30064;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=23848;nhomalt_XY=0;nhomalt=0;AC_afr_XX=1;AF_afr_XX=0.000121242;AN_afr_XX=8248;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=6374;nhomalt_afr_XY=0;AC_afr=1;AF_afr=6.83901e-05;AN_afr=14622;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=184;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=194;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=378;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2308;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2594;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=4902;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=766;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=598;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1364;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=782;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=886;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1668;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=944;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2280;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=3224;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=94;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=76;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=170;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=15886;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=9604;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=25490;nhomalt_nfe=0;AC_raw=1;AF_raw=7.30716e-06;AN_raw=136852;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=348;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=300;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=648;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=504;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=942;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1446;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=6.83901e-05;AN_grpmax=14622;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=3.15270;MQ=30.2719;MQRankSum=-0.876000;QUALapprox=397;QD=12.8065;ReadPosRankSum=0.361000;SOR=1.81400;VarDP=31;AS_FS=3.15270;AS_MQ=30.2719;AS_MQRankSum=-0.876000;AS_pab_max=1.00000;AS_QUALapprox=397;AS_QD=12.8065;AS_ReadPosRankSum=0.361000;AS_SB_TABLE=14,1|16,0;AS_SOR=1.81446;AS_VarDP=31;inbreeding_coeff=-7.30722e-06;AS_culprit=AS_MQ;AS_VQSLOD=-3.70430;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|21439|3491|1661|304|32|21|7|0|0|0|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|17632|7969|1222|118|15|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.232905;cadd_phred=3.50400;phylop=-1.44500;VRS_Allele_IDs=ga4gh:VA.-e0hIyKye9cfHmZ73QyHrda1DMyetLId,ga4gh:VA.oxAooZog89OUqoKEbHw3CxZCaNG6lePE;VRS_Starts=5031609,5031609;VRS_Ends=5031610,5031610;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-443C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-443C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-443C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-443C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-443C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-443C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-443C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-443C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-443C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031620	rs1987128670	C	T	.	AC0;AS_VQSR	AC=0;AN=55734;AF=0.00000;AC_XX=0;AF_XX=0.00000;AN_XX=30974;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=24760;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=8476;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=6600;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=15076;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=196;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=202;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=398;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2372;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2698;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=5070;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=794;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=582;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1376;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=806;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=918;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1724;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=982;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2370;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=3352;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=92;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=82;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=174;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=16394;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=10020;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=26414;nhomalt_nfe=0;AC_raw=1;AF_raw=7.27463e-06;AN_raw=137464;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=348;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=314;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=662;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=514;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=974;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1488;nhomalt_sas=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=.;MQ=33.2007;MQRankSum=1.30000;QUALapprox=115;QD=16.4286;ReadPosRankSum=-0.550000;SOR=0.941000;VarDP=7;AS_FS=.;AS_MQ=33.2007;AS_MQRankSum=1.30000;AS_pab_max=1.00000;AS_QUALapprox=115;AS_QD=16.4286;AS_ReadPosRankSum=-0.550000;AS_SB_TABLE=3,0|4,0;AS_SOR=0.940983;AS_VarDP=7;inbreeding_coeff=-7.27468e-06;AS_culprit=AS_MQ;AS_VQSLOD=-3.56220;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|22061|3597|1806|334|42|24|3|0|0|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|17966|8398|1349|136|17|1|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.317124;cadd_phred=4.48700;phylop=0.407000;VRS_Allele_IDs=ga4gh:VA.thw7Y2yuNFxivxVhmAEwhO8ePcT3KQne,ga4gh:VA.J_PE_h1SeaoO-3WO5vvpQ9wna9z3Hapb;VRS_Starts=5031619,5031619;VRS_Ends=5031620,5031620;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-433C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-433C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-433C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-433C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-433C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-433C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-433C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-433C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-433C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031624	rs1378462906	G	A	.	AS_VQSR	AC=1;AN=56798;AF=1.76063e-05;grpmax=afr;AC_XX=1;AF_XX=3.17501e-05;AN_XX=31496;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=25302;nhomalt_XY=0;nhomalt=0;AC_afr_XX=1;AF_afr_XX=0.000116306;AN_afr_XX=8598;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=6748;nhomalt_afr_XY=0;AC_afr=1;AF_afr=6.51636e-05;AN_afr=15346;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=198;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=198;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=396;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2406;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2758;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=5164;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=800;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=606;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1406;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=818;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=918;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1736;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1004;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2438;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=3442;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=96;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=80;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=176;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=16716;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=10256;nhomalt_nfe_XY=0;AC_nfe=0;AF_nfe=0.00000;AN_nfe=26972;nhomalt_nfe=0;AC_raw=1;AF_raw=7.24186e-06;AN_raw=138086;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=350;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=326;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=676;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=510;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=974;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1484;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=6.51636e-05;AN_grpmax=15346;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|1|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=0.00000;MQ=31.3348;MQRankSum=0.0440000;QUALapprox=851;QD=13.7258;ReadPosRankSum=0.780000;SOR=0.760000;VarDP=62;AS_FS=0.00000;AS_MQ=31.3348;AS_MQRankSum=0.0440000;AS_pab_max=1.00000;AS_QUALapprox=851;AS_QD=13.7258;AS_ReadPosRankSum=0.780000;AS_SB_TABLE=29,1|31,1;AS_SOR=0.759767;AS_VarDP=62;inbreeding_coeff=-7.24192e-06;AS_culprit=AS_MQ;AS_VQSLOD=-3.00240;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1;gq_hist_all_bin_freq=0|0|0|0|22401|3718|1868|347|41|23|0|0|0|0|0|0|0|0|0|1;dp_hist_alt_bin_freq=0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18220|8591|1412|157|18|1|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.346958;cadd_phred=4.83000;phylop=0.404000;VRS_Allele_IDs=ga4gh:VA.vEf5xERdRBT8jUhGRBzGNN2ako_Gcn0C,ga4gh:VA.5G-W6Gvdyc4qx2Z7adhzrz1CBFftFB-9;VRS_Starts=5031623,5031623;VRS_Ends=5031624,5031624;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-429G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-429G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-429G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-429G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-429G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-429G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-429G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-429G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-429G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031629	.	TC	T	.	PASS	AC=1;AN=57364;AF=1.74325e-05;grpmax=nfe;AC_XX=0;AF_XX=0.00000;AN_XX=31744;nhomalt_XX=0;AC_XY=1;AF_XY=3.90320e-05;AN_XY=25620;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=8676;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=6818;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=15494;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=202;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=214;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=416;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2434;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2800;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=5234;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=812;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=604;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1416;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=798;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=918;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1716;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1006;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2480;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=3486;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=96;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=80;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=176;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=16866;nhomalt_nfe_XX=0;AC_nfe_XY=1;AF_nfe_XY=9.60430e-05;AN_nfe_XY=10412;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=3.66596e-05;AN_nfe=27278;nhomalt_nfe=0;AC_raw=1;AF_raw=7.25090e-06;AN_raw=137914;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=356;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=328;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=684;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=498;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=966;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1464;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=3.66596e-05;AN_grpmax=27278;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=4.62680;MQ=28.5675;MQRankSum=0.720000;QUALapprox=270;QD=9.00000;ReadPosRankSum=0.736000;SOR=0.145000;VarDP=30;AS_FS=4.62680;AS_MQ=28.5675;AS_MQRankSum=0.720000;AS_pab_max=1.00000;AS_QUALapprox=270;AS_QD=9.00000;AS_ReadPosRankSum=0.736000;AS_SB_TABLE=18,4|5,3;AS_SOR=0.144808;AS_VarDP=30;inbreeding_coeff=-7.25095e-06;AS_culprit=AS_FS;AS_VQSLOD=1.37330;allele_type=del;n_alt_alleles=1;variant_type=indel;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|22696|3720|1845|343|48|28|1|0|1|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18210|8772|1502|178|19|1|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.193654;cadd_phred=3.05200;pangolin_largest_ds=0.00000;phylop=0.323000;VRS_Allele_IDs=ga4gh:VA.r2f9SwFuOjdSZbQDR8bWR-sG7CrRgNf2,ga4gh:VA.piOKQvUTdq82RVZTg7QzAMpUTT0uTnma;VRS_Starts=5031628,5031629;VRS_Ends=5031630,5031630;VRS_States=TC,;vep=-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-423del|||||||1||1||deletion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-423del|||||||1||1||deletion||||||5|||ENSP00000484302||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-423del|||||||1||1||deletion||||||2|||ENSP00000485649||Ensembl|||||||||||||,-|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-423del|||||||1||1||deletion||||||2|||ENSP00000485557||Ensembl|||||||||||||,-|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-423del|||||||1||1||deletion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-423del|||||||1||1||deletion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-423del|||||||1||1||deletion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-423del|||||||1||1||deletion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,-|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-423del|||||||1||1||deletion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031630	rs1476913611	C	T	.	AS_VQSR	AC=3;AN=57364;AF=5.22976e-05;grpmax=nfe;fafmax_faf95_max=2.90800e-05;fafmax_faf95_max_gen_anc=nfe;AC_XX=1;AF_XX=3.15736e-05;AN_XX=31672;nhomalt_XX=0;AC_XY=2;AF_XY=7.78452e-05;AN_XY=25692;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=8616;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=6848;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=15464;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=200;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=210;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=410;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2438;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2794;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=5232;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=814;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=610;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1424;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=788;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=900;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1688;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=992;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2520;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=3512;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=94;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=78;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=172;nhomalt_mid=0;AC_nfe_XX=1;AF_nfe_XX=5.92557e-05;AN_nfe_XX=16876;nhomalt_nfe_XX=0;AC_nfe_XY=2;AF_nfe_XY=0.000191571;AN_nfe_XY=10440;nhomalt_nfe_XY=0;AC_nfe=3;AF_nfe=0.000109826;AN_nfe=27316;nhomalt_nfe=0;AC_raw=6;AF_raw=4.35939e-05;AN_raw=137634;nhomalt_raw=1;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=358;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=332;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=690;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=496;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=960;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1456;nhomalt_sas=0;AC_grpmax=3;AF_grpmax=0.000109826;AN_grpmax=27316;nhomalt_grpmax=0;faf95=1.38800e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=2.90800e-05;faf95_sas=0.00000;faf99=6.85000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=1.50600e-05;faf99_sas=0.00000;fafmax_faf99_max=1.50600e-05;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|1|0|0|1|0|1;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=7.52294;MQ=30.5452;MQRankSum=0.00000;QUALapprox=2339;QD=18.5635;ReadPosRankSum=0.135000;SOR=1.64000;VarDP=126;AS_FS=7.52294;AS_MQ=30.5452;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=2339;AS_QD=18.5635;AS_ReadPosRankSum=0.135000;AS_SB_TABLE=33,8|76,9;AS_SOR=1.63985;AS_VarDP=126;inbreeding_coeff=0.333304;AS_culprit=AS_MQ;AS_VQSLOD=-3.90150;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|1|0|0|0|0|0|0|0|0|1|0|0|1;gq_hist_all_bin_freq=0|0|0|0|22727|3722|1826|341|44|20|0|0|0|0|0|0|1|0|0|1;dp_hist_alt_bin_freq=0|0|2|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18171|8791|1513|187|19|1|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|0|0|0|1|0|0|0|0|0|1|0|0|0|0|0;cadd_raw_score=0.424509;cadd_phred=5.69700;phylop=-0.539000;VRS_Allele_IDs=ga4gh:VA.ixgIObaG5UaFJ_sE3JgBgsjTA29depVx,ga4gh:VA.juGPnyyz7Fsjk49Vn_l7jRbCsXhdd_Zd;VRS_Starts=5031629,5031629;VRS_Ends=5031630,5031630;VRS_States=C,T;vep=T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-423C>T|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-423C>T|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-423C>T|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,T|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-423C>T|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,T|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-423C>T|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-423C>T|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-423C>T|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-423C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,T|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-423C>T|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031631	rs1265238209	G	A	.	AS_VQSR	AC=5;AN=57966;AF=8.62575e-05;grpmax=nfe;fafmax_faf95_max=4.88300e-05;fafmax_faf95_max_gen_anc=nfe;AC_XX=3;AF_XX=9.36973e-05;AN_XX=32018;nhomalt_XX=0;AC_XY=2;AF_XY=7.70772e-05;AN_XY=25948;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=8736;nhomalt_afr_XX=0;AC_afr_XY=1;AF_afr_XY=0.000144760;AN_afr_XY=6908;nhomalt_afr_XY=0;AC_afr=1;AF_afr=6.39223e-05;AN_afr=15644;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=202;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=210;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=412;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2474;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2830;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=5304;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=824;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=610;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1434;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=832;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=922;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1754;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1010;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2508;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=3518;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=92;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=78;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=170;nhomalt_mid=0;AC_nfe_XX=3;AF_nfe_XX=0.000176929;AN_nfe_XX=16956;nhomalt_nfe_XX=0;AC_nfe_XY=1;AF_nfe_XY=9.46970e-05;AN_nfe_XY=10560;nhomalt_nfe_XY=0;AC_nfe=4;AF_nfe=0.000145370;AN_nfe=27516;nhomalt_nfe=0;AC_raw=24;AF_raw=0.000173926;AN_raw=137990;nhomalt_raw=3;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=372;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=324;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=696;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=520;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=998;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1518;nhomalt_sas=0;AC_grpmax=4;AF_grpmax=0.000145370;AN_grpmax=27516;nhomalt_grpmax=0;faf95=3.34700e-05;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=4.88300e-05;faf95_sas=0.00000;faf99=2.12800e-05;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=2.97700e-05;faf99_sas=0.00000;fafmax_faf99_max=2.97700e-05;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|1|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=30.8352;MQ=29.7422;MQRankSum=-0.248000;QUALapprox=3676;QD=10.8437;ReadPosRankSum=0.00000;SOR=0.144000;VarDP=339;AS_FS=31.0383;AS_MQ=29.6435;AS_MQRankSum=-0.572000;AS_pab_max=1.00000;AS_QUALapprox=3639;AS_QD=11.0608;AS_ReadPosRankSum=0.00000;AS_SB_TABLE=167,25|104,41;AS_SOR=0.139497;AS_VarDP=329;inbreeding_coeff=0.249870;AS_culprit=AS_FS;AS_VQSLOD=-7.11870;allele_type=snv;n_alt_alleles=2;variant_type=multi-snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|1|0|0|3;gq_hist_all_bin_freq=0|0|0|0|22866|3794|1900|347|48|19|4|1|0|0|0|0|1|0|0|3;dp_hist_alt_bin_freq=0|0|3|1|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18325|8913|1536|189|19|1|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|2|0|0|1|1|1|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.402976;cadd_phred=5.46000;phylop=-0.626000;VRS_Allele_IDs=ga4gh:VA.1JYQw6UXCJ0TM4wXs73RQwUiYVAqtWB8,ga4gh:VA.RN58njT6ZhzwBAB-QexziO8wsdVhpgQ4;VRS_Starts=5031630,5031630;VRS_Ends=5031631,5031631;VRS_States=G,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-422G>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-422G>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-422G>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-422G>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-422G>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-422G>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-422G>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-422G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-422G>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031632	.	G	GAGGCTGGGCAGGA	.	PASS	AC=1;AN=58424;AF=1.71163e-05;grpmax=nfe;AC_XX=0;AF_XX=0.00000;AN_XX=32262;nhomalt_XX=0;AC_XY=1;AF_XY=3.82234e-05;AN_XY=26162;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=8786;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=6964;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=15750;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=202;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=212;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=414;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2484;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2860;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=5344;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=828;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=628;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1456;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=832;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=916;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1748;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1026;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2526;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=3552;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=94;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=80;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=174;nhomalt_mid=0;AC_nfe_XX=0;AF_nfe_XX=0.00000;AN_nfe_XX=17128;nhomalt_nfe_XX=0;AC_nfe_XY=1;AF_nfe_XY=9.39850e-05;AN_nfe_XY=10640;nhomalt_nfe_XY=0;AC_nfe=1;AF_nfe=3.60127e-05;AN_nfe=27768;nhomalt_nfe=0;AC_raw=1;AF_raw=7.21085e-06;AN_raw=138680;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=362;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=328;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=690;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=520;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1008;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1528;nhomalt_sas=0;AC_grpmax=1;AF_grpmax=3.60127e-05;AN_grpmax=27768;nhomalt_grpmax=0;faf95=0.00000;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=0.00000;faf95_sas=0.00000;faf99=0.00000;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=0.00000;faf99_sas=0.00000;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=1.50895;MQ=29.3521;MQRankSum=0.00000;QUALapprox=453;QD=9.84783;ReadPosRankSum=-0.118000;SOR=0.349000;VarDP=46;AS_FS=4.50076;AS_MQ=28.5675;AS_MQRankSum=0.00000;AS_pab_max=1.00000;AS_QUALapprox=270;AS_QD=9.00000;AS_ReadPosRankSum=0.736000;AS_SB_TABLE=25,6|5,3;AS_SOR=0.151082;AS_VarDP=30;inbreeding_coeff=-7.21090e-06;AS_culprit=AS_FS;AS_VQSLOD=1.11080;allele_type=ins;n_alt_alleles=2;variant_type=mixed;was_mixed;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|1|0|0|0|0|0|0|0;gq_hist_all_bin_freq=0|0|0|0|23007|3832|1930|363|54|20|5|0|1|0|0|0|0|0|0|0;dp_hist_alt_bin_freq=0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18463|8985|1553|191|19|1|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.211690;cadd_phred=3.25800;pangolin_largest_ds=0.00000;phylop=0.404000;VRS_Allele_IDs=ga4gh:VA.IPwrq-JkmfIACi7355MHeX8OEj4-sai8,ga4gh:VA.mZ2DrxMuU_TrNOJcETWsx4jbX5f0Pj8y;VRS_Starts=5031631,5031632;VRS_Ends=5031632,5031632;VRS_States=G,AGGCTGGGCAGGA;vep=AGGCTGGGCAGGA|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-421_698-420insAGGCTGGGCAGGA|||||||1||1||insertion||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,AGGCTGGGCAGGA|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-421_347-420insAGGCTGGGCAGGA|||||||1||1||insertion||||||5|||ENSP00000484302||Ensembl|||||||||||||,AGGCTGGGCAGGA|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-421_347-420insAGGCTGGGCAGGA|||||||1||1||insertion||||||2|||ENSP00000485649||Ensembl|||||||||||||,AGGCTGGGCAGGA|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-421_*312-420insAGGCTGGGCAGGA|||||||1||1||insertion||||||2|||ENSP00000485557||Ensembl|||||||||||||,AGGCTGGGCAGGA|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-421_698-420insAGGCTGGGCAGGA|||||||1||1||insertion|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,AGGCTGGGCAGGA|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-421_698-420insAGGCTGGGCAGGA|||||||1||1||insertion|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,AGGCTGGGCAGGA|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-421_698-420insAGGCTGGGCAGGA|||||||1||1||insertion|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,AGGCTGGGCAGGA|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-421_698-420insAGGCTGGGCAGGA|||||||1||1||insertion|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,AGGCTGGGCAGGA|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-421_698-420insAGGCTGGGCAGGA|||||||1||1||insertion|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
+chr21	5031637	rs1217161390	C	A	.	AS_VQSR	AC=2;AN=59726;AF=3.34863e-05;grpmax=nfe;fafmax_faf95_max=1.17000e-05;fafmax_faf95_max_gen_anc=nfe;AC_XX=2;AF_XX=6.09682e-05;AN_XX=32804;nhomalt_XX=0;AC_XY=0;AF_XY=0.00000;AN_XY=26922;nhomalt_XY=0;nhomalt=0;AC_afr_XX=0;AF_afr_XX=0.00000;AN_afr_XX=9000;nhomalt_afr_XX=0;AC_afr_XY=0;AF_afr_XY=0.00000;AN_afr_XY=7168;nhomalt_afr_XY=0;AC_afr=0;AF_afr=0.00000;AN_afr=16168;nhomalt_afr=0;AC_ami_XX=0;AF_ami_XX=0.00000;AN_ami_XX=206;nhomalt_ami_XX=0;AC_ami_XY=0;AF_ami_XY=0.00000;AN_ami_XY=214;nhomalt_ami_XY=0;AC_ami=0;AF_ami=0.00000;AN_ami=420;nhomalt_ami=0;AC_amr_XX=0;AF_amr_XX=0.00000;AN_amr_XX=2518;nhomalt_amr_XX=0;AC_amr_XY=0;AF_amr_XY=0.00000;AN_amr_XY=2950;nhomalt_amr_XY=0;AC_amr=0;AF_amr=0.00000;AN_amr=5468;nhomalt_amr=0;AC_asj_XX=0;AF_asj_XX=0.00000;AN_asj_XX=834;nhomalt_asj_XX=0;AC_asj_XY=0;AF_asj_XY=0.00000;AN_asj_XY=646;nhomalt_asj_XY=0;AC_asj=0;AF_asj=0.00000;AN_asj=1480;nhomalt_asj=0;AC_eas_XX=0;AF_eas_XX=0.00000;AN_eas_XX=848;nhomalt_eas_XX=0;AC_eas_XY=0;AF_eas_XY=0.00000;AN_eas_XY=942;nhomalt_eas_XY=0;AC_eas=0;AF_eas=0.00000;AN_eas=1790;nhomalt_eas=0;AC_fin_XX=0;AF_fin_XX=0.00000;AN_fin_XX=1036;nhomalt_fin_XX=0;AC_fin_XY=0;AF_fin_XY=0.00000;AN_fin_XY=2648;nhomalt_fin_XY=0;AC_fin=0;AF_fin=0.00000;AN_fin=3684;nhomalt_fin=0;AC_mid_XX=0;AF_mid_XX=0.00000;AN_mid_XX=82;nhomalt_mid_XX=0;AC_mid_XY=0;AF_mid_XY=0.00000;AN_mid_XY=80;nhomalt_mid_XY=0;AC_mid=0;AF_mid=0.00000;AN_mid=162;nhomalt_mid=0;AC_nfe_XX=2;AF_nfe_XX=0.000115009;AN_nfe_XX=17390;nhomalt_nfe_XX=0;AC_nfe_XY=0;AF_nfe_XY=0.00000;AN_nfe_XY=10910;nhomalt_nfe_XY=0;AC_nfe=2;AF_nfe=7.06714e-05;AN_nfe=28300;nhomalt_nfe=0;AC_raw=2;AF_raw=1.43513e-05;AN_raw=139360;nhomalt_raw=0;AC_remaining_XX=0;AF_remaining_XX=0.00000;AN_remaining_XX=382;nhomalt_remaining_XX=0;AC_remaining_XY=0;AF_remaining_XY=0.00000;AN_remaining_XY=346;nhomalt_remaining_XY=0;AC_remaining=0;AF_remaining=0.00000;AN_remaining=728;nhomalt_remaining=0;AC_sas_XX=0;AF_sas_XX=0.00000;AN_sas_XX=508;nhomalt_sas_XX=0;AC_sas_XY=0;AF_sas_XY=0.00000;AN_sas_XY=1018;nhomalt_sas_XY=0;AC_sas=0;AF_sas=0.00000;AN_sas=1526;nhomalt_sas=0;AC_grpmax=2;AF_grpmax=7.06714e-05;AN_grpmax=28300;nhomalt_grpmax=0;faf95=5.55000e-06;faf95_afr=0.00000;faf95_amr=0.00000;faf95_eas=0.00000;faf95_nfe=1.17000e-05;faf95_sas=0.00000;faf99=2.08000e-06;faf99_afr=0.00000;faf99_amr=0.00000;faf99_eas=0.00000;faf99_nfe=4.37000e-06;faf99_sas=0.00000;fafmax_faf99_max=4.37000e-06;fafmax_faf99_max_gen_anc=nfe;age_hist_het_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_het_n_smaller=0;age_hist_het_n_larger=0;age_hist_hom_bin_freq=0|0|0|0|0|0|0|0|0|0;age_hist_hom_n_smaller=0;age_hist_hom_n_larger=0;FS=8.12126;MQ=29.1782;MQRankSum=-0.566000;QUALapprox=286;QD=7.52632;ReadPosRankSum=-0.289000;SOR=0.0610000;VarDP=38;AS_FS=8.12126;AS_MQ=29.1782;AS_MQRankSum=-0.566000;AS_pab_max=0.607239;AS_QUALapprox=286;AS_QD=7.52632;AS_ReadPosRankSum=-0.289000;AS_SB_TABLE=23,2|9,4;AS_SOR=0.0606246;AS_VarDP=38;inbreeding_coeff=-1.43515e-05;AS_culprit=AS_MQ;AS_VQSLOD=-4.75990;allele_type=snv;n_alt_alleles=1;variant_type=snv;segdup;gq_hist_alt_bin_freq=0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|1|1;gq_hist_all_bin_freq=0|0|0|0|23539|3848|2020|340|52|18|2|0|0|0|0|0|0|0|1|1;dp_hist_alt_bin_freq=0|0|1|1|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_alt_n_larger=0;dp_hist_all_bin_freq=0|0|18721|9229|1635|215|20|1|0|0|0|0|0|0|0|0|0|0|0|0;dp_hist_all_n_larger=0;ab_hist_alt_bin_freq=0|0|0|0|0|0|1|0|1|0|0|0|0|0|0|0|0|0|0|0;cadd_raw_score=0.394501;cadd_phred=5.36600;phylop=-0.547000;VRS_Allele_IDs=ga4gh:VA.7EQ9jDNQBfPa0sWh6EbYv6DEoCDuHjaL,ga4gh:VA.Rmpkj9YsXDhfC_icknRQ2gO5XbnwiS68;VRS_Starts=5031636,5031636;VRS_Ends=5031637,5031637;VRS_States=C,A;vep=A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000612610|protein_coding||4/6|ENST00000612610.4:c.698-416C>A|||||||1||1||SNV||||||1|A2||ENSP00000483732||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000620481|protein_coding||3/5|ENST00000620481.4:c.347-416C>A|||||||1||1||SNV||||||5|||ENSP00000484302||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623795|protein_coding||3/5|ENST00000623795.1:c.347-416C>A|||||||1||1||SNV||||||2|||ENSP00000485649||Ensembl|||||||||||||,A|intron_variant&NMD_transcript_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623903|nonsense_mediated_decay||4/6|ENST00000623903.3:c.*312-416C>A|||||||1||1||SNV||||||2|||ENSP00000485557||Ensembl|||||||||||||,A|intron_variant|MODIFIER||ENSG00000277117|Transcript|ENST00000623960|protein_coding||4/6|ENST00000623960.4:c.698-416C>A|||||||1||1||SNV|||YES|NM_001363770.2||1|P2|CCDS86973.1|ENSP00000485129||Ensembl|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|NM_001363770.2|protein_coding||4/6|NM_001363770.2:c.698-416C>A|||||||1||1||SNV|EntrezGene||YES|ENST00000623960.4|||||NP_001350699.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_006723899.2|protein_coding||4/5|XM_006723899.2:c.698-416C>A|||||||1||1||SNV|EntrezGene||||||||XP_006723962.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546078.2|protein_coding||4/6|XM_011546078.2:c.698-416C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544380.1||RefSeq|||||||||||||,A|intron_variant|MODIFIER|LOC102723996|102723996|Transcript|XM_011546079.1|protein_coding||4/6|XM_011546079.1:c.698-416C>A|||||||1||1||SNV|EntrezGene||||||||XP_011544381.1||RefSeq|||||||||||||
diff --git a/datafusion/vcf/testdata/mock_chr21.vcf.bgz b/datafusion/vcf/testdata/mock_chr21.vcf.bgz
new file mode 100644
index 0000000..cf01d1e
Binary files /dev/null and b/datafusion/vcf/testdata/mock_chr21.vcf.bgz differ
diff --git a/datafusion/vcf/testdata/mock_chr21.vcf.bgz.tbi b/datafusion/vcf/testdata/mock_chr21.vcf.bgz.tbi
new file mode 100644
index 0000000..445a754
Binary files /dev/null and b/datafusion/vcf/testdata/mock_chr21.vcf.bgz.tbi differ
diff --git a/docker-compose.yaml b/docker-compose.yaml
new file mode 100644
index 0000000..07db201
--- /dev/null
+++ b/docker-compose.yaml
@@ -0,0 +1,74 @@
+version: "3"
+
+services:
+  spark-iceberg:
+    image: tabulario/spark-iceberg
+    container_name: spark-iceberg
+    build: spark/
+    networks:
+      iceberg_net:
+    depends_on:
+      - rest
+      - minio
+    volumes:
+      - ./warehouse:/home/iceberg/warehouse
+      - ./notebooks:/home/iceberg/notebooks/notebooks
+    environment:
+      - AWS_ACCESS_KEY_ID=admin
+      - AWS_SECRET_ACCESS_KEY=password
+      - AWS_REGION=us-east-1
+    ports:
+      - 8888:8888
+      - 8080:8080
+      - 10000:10000
+      - 10001:10001
+  rest:
+    image: apache/iceberg-rest-fixture
+    container_name: iceberg-rest
+    networks:
+      iceberg_net:
+    ports:
+      - 8181:8181
+    environment:
+      - AWS_ACCESS_KEY_ID=admin
+      - AWS_SECRET_ACCESS_KEY=password
+      - AWS_REGION=us-east-1
+      - CATALOG_WAREHOUSE=s3://warehouse/
+      - CATALOG_IO__IMPL=org.apache.iceberg.aws.s3.S3FileIO
+      - CATALOG_S3_ENDPOINT=http://minio:9000
+  minio:
+    image: minio/minio
+    container_name: minio
+    environment:
+      - MINIO_ROOT_USER=admin
+      - MINIO_ROOT_PASSWORD=password
+      - MINIO_DOMAIN=minio
+    networks:
+      iceberg_net:
+        aliases:
+          - warehouse.minio
+    ports:
+      - 9001:9001
+      - 9000:9000
+    command: ["server", "/data", "--console-address", ":9001"]
+  mc:
+    depends_on:
+      - minio
+    image: minio/mc
+    container_name: mc
+    networks:
+      iceberg_net:
+    environment:
+      - AWS_ACCESS_KEY_ID=admin
+      - AWS_SECRET_ACCESS_KEY=password
+      - AWS_REGION=us-east-1
+    entrypoint: |
+      /bin/sh -c "
+      until (/usr/bin/mc config host add minio http://minio:9000 admin password) do echo '...waiting...' && sleep 1; done;
+      /usr/bin/mc rm -r --force minio/warehouse;
+      /usr/bin/mc mb minio/warehouse;
+      /usr/bin/mc policy set public minio/warehouse;
+      tail -f /dev/null
+      "
+networks:
+  iceberg_net:
\ No newline at end of file
diff --git a/rust-toolchain.toml b/rust-toolchain.toml
new file mode 100644
index 0000000..c818199
--- /dev/null
+++ b/rust-toolchain.toml
@@ -0,0 +1,3 @@
+[toolchain]
+channel = "1.85.0"
+components = ["rustfmt"]
diff --git a/rustfmt.toml b/rustfmt.toml
new file mode 100644
index 0000000..12cffc3
--- /dev/null
+++ b/rustfmt.toml
@@ -0,0 +1,2 @@
+required_version= "1.8.0-nightly"
+unstable_features = true
\ No newline at end of file