# Top **URL:** https://discuss.gnomad.broadinstitute.org/top.md [Latest](https://discuss.gnomad.broadinstitute.org/latest.md) · [Categories](https://discuss.gnomad.broadinstitute.org/categories.md) · [Tags](https://discuss.gnomad.broadinstitute.org/tags.md) --- ## [Service overloaded](https://discuss.gnomad.broadinstitute.org/t/service-overloaded/800)
**Author:** [@AP715](https://discuss.gnomad.broadinstitute.org/u/AP715)\ **Replies:** 7\ **Last updated:** [September 30, 2026, 3:55pm UTC](https://discuss.gnomad.broadinstitute.org/t/service-overloaded/800 "2026-09-30T15:55:27Z")
Anyone having this issue in Chrome or Safari? Its a hit or miss on how long it takes for the data to eventually populate on the page after refreshing several times. --- ## [Gnomad V4.1.1 Update Missing Constraint Metrics from V4.1.0](https://discuss.gnomad.broadinstitute.org/t/gnomad-v4-1-1-update-missing-constraint-metrics-from-v4-1-0/830)
**Author:** [@Amy\_Zheng](https://discuss.gnomad.broadinstitute.org/u/Amy_Zheng)\ **Replies:** 1\ **Last updated:** [May 28, 2026, 8:45pm UTC](https://discuss.gnomad.broadinstitute.org/t/gnomad-v4-1-1-update-missing-constraint-metrics-from-v4-1-0/830 "2026-05-28T20:45:03Z")
Hi! We’re working on a project using the constraint metrics (specifically missense and synonymous o/e) provided by Gnomad. However, we recently noticed that the constraint tables displayed in V4.1.0 are no longer availa… --- ## [403 error using API via python gql](https://discuss.gnomad.broadinstitute.org/t/403-error-using-api-via-python-gql/807)
**Author:** [@malcolm](https://discuss.gnomad.broadinstitute.org/u/malcolm)\ **Replies:** 7\ **Last updated:** [March 12, 2026, 9:40pm UTC](https://discuss.gnomad.broadinstitute.org/t/403-error-using-api-via-python-gql/807 "2026-03-12T21:40:20Z")
Hi, a few weeks ago I used the API (through python) to access variant info for a number of genes. I’ve recently rerun the script for a new set of genes, but I get a 403 error from the server. I’ve tried again using the s… --- ## [Filtering the v4 Exome CNV VCF](https://discuss.gnomad.broadinstitute.org/t/filtering-the-v4-exome-cnv-vcf/842)
**Author:** [@leajp](https://discuss.gnomad.broadinstitute.org/u/leajp)\ **Replies:** 0\ **Last updated:** [July 1, 2026, 1:28pm UTC](https://discuss.gnomad.broadinstitute.org/t/filtering-the-v4-exome-cnv-vcf/842 "2026-07-01T13:28:28Z")
Hello, I am filtering the v4 Exome CNV VCF to get the final list of 66,903 rare CNVs. The original vcf file has 68,699 rows (variants), but when I filter it on the FILTER-column (keeping only “PASS”) I get 67,952 varia… --- ## [PRKCE variant 2-46001442 - G-A (GRCh38)](https://discuss.gnomad.broadinstitute.org/t/prkce-variant-2-46001442-g-a-grch38/769)
**Author:** [@Andrea\_Accogli](https://discuss.gnomad.broadinstitute.org/u/Andrea_Accogli)\ **Replies:** 4\ **Last updated:** [December 16, 2025, 8:51pm UTC](https://discuss.gnomad.broadinstitute.org/t/prkce-variant-2-46001442-g-a-grch38/769 "2025-12-16T20:51:19Z")
Dear gnomAD team, My name is Dr. Andrea Accogli, and I am a clinician–researcher at McGill University working on a project involving PRKCE-related neurodevelopmental disorders. In our cohort, we identified several indi… --- ## [gnomAD v5 - planned release?](https://discuss.gnomad.broadinstitute.org/t/gnomad-v5-planned-release/845)
**Author:** [@NM-G08](https://discuss.gnomad.broadinstitute.org/u/NM-G08)\ **Replies:** 3\ **Last updated:** [August 5, 2026, 2:43pm UTC](https://discuss.gnomad.broadinstitute.org/t/gnomad-v5-planned-release/845 "2026-08-05T14:43:23Z")
Hello, I heard in some recent meetings that there is going to be a gnomAD v5, and noticed a few topics in here that indicated that the change from v4 to v5 is based only on All of Us Research data being incorporated. I… --- ## [Missing Constraint Metrics (v4.1) for specific genes (e.g., ACE2 - ENSG00000159640)](https://discuss.gnomad.broadinstitute.org/t/missing-constraint-metrics-v4-1-for-specific-genes-e-g-ace2-ensg00000159640/790)
**Author:** [@Thaynara\_Lima](https://discuss.gnomad.broadinstitute.org/u/Thaynara_Lima)\ **Replies:** 3\ **Last updated:** [March 31, 2026, 3:51pm UTC](https://discuss.gnomad.broadinstitute.org/t/missing-constraint-metrics-v4-1-for-specific-genes-e-g-ace2-ensg00000159640/790 "2026-03-31T15:51:38Z")
Hi everyone, I’m working on an evolutionary analysis using the gnomAD v4.1.0 dataset. I’ve noticed that for some genes, specifically ACE2 (ENSG00000159640), the constraint metrics (Missense Z-score, pLI, o/e) are missin… --- ## [Urgent query-Genotype Quality for SVs in gnomAD v4.1.0](https://discuss.gnomad.broadinstitute.org/t/urgent-query-genotype-quality-for-svs-in-gnomad-v4-1-0/770)
**Author:** [@GemmaB](https://discuss.gnomad.broadinstitute.org/u/GemmaB)\ **Replies:** 3\ **Last updated:** [November 20, 2025, 2:24pm UTC](https://discuss.gnomad.broadinstitute.org/t/urgent-query-genotype-quality-for-svs-in-gnomad-v4-1-0/770 "2025-11-20T14:24:02Z")
Hi, We are currently performing an urgent review of a BRIP1 deletion (encompassing exon 8) and was wondering if you could help us understand the quality scores for SVs in gnomAD v4.1.0. We believe our variant overlaps … --- ## [SV download not matching online browser](https://discuss.gnomad.broadinstitute.org/t/sv-download-not-matching-online-browser/811)
**Author:** [@anagy](https://discuss.gnomad.broadinstitute.org/u/anagy)\ **Replies:** 4\ **Last updated:** [April 14, 2026, 8:31pm UTC](https://discuss.gnomad.broadinstitute.org/t/sv-download-not-matching-online-browser/811 "2026-04-14T20:31:50Z")
Hello! We are using the latest gnomAD SV download (gs://gcp-public-data–gnomad/release/4.1/genome\_sv/gnomad.v4.1.sv.sites.vcf.gz) and have noticed that some of the data included in there is not in the online browser. For… --- ## [HGDP + 1KG sample metadata discrepency](https://discuss.gnomad.broadinstitute.org/t/hgdp-1kg-sample-metadata-discrepency/781)
**Author:** [@Christopher\_Kachulis](https://discuss.gnomad.broadinstitute.org/u/Christopher_Kachulis)\ **Replies:** 2\ **Last updated:** [January 28, 2026, 9:05pm UTC](https://discuss.gnomad.broadinstitute.org/t/hgdp-1kg-sample-metadata-discrepency/781 "2026-01-28T21:05:31Z")
The sample metadata tables provided under “Sample Metadata Hail Table” and “Sample Metadata TSV” at https://gnomad.broadinstitute.org/data#v3-hgdp-1kg appear to disagree. In particular, the “high\_quality” column is diff… --- ## [Total Grpmax Filtering AF gnomAD v4.1.0 vs gnomAD v4.1.0 (non-UKB)](https://discuss.gnomad.broadinstitute.org/t/total-grpmax-filtering-af-gnomad-v4-1-0-vs-gnomad-v4-1-0-non-ukb/786)
**Author:** [@Dmitriy\_Sonkin](https://discuss.gnomad.broadinstitute.org/u/Dmitriy_Sonkin)\ **Replies:** 2\ **Last updated:** [January 15, 2026, 1:48pm UTC](https://discuss.gnomad.broadinstitute.org/t/total-grpmax-filtering-af-gnomad-v4-1-0-vs-gnomad-v4-1-0-non-ukb/786 "2026-01-15T13:48:26Z")
Is there a reason why the total Grpmax Filtering AF is listed for a variant in gnomAD v4.1.0, but not in gnomAD v4.1.0 (non-UKB)? (Variant examples: 3-12600235-T-C, 11-533799-T-G) --- ## [BRCA1 gene page fails to load tonight](https://discuss.gnomad.broadinstitute.org/t/brca1-gene-page-fails-to-load-tonight/852)
**Author:** [@Susan\_WL](https://discuss.gnomad.broadinstitute.org/u/Susan_WL)\ **Replies:** 3\ **Last updated:** [September 10, 2026, 6:03pm UTC](https://discuss.gnomad.broadinstitute.org/t/brca1-gene-page-fails-to-load-tonight/852 "2026-09-10T18:03:21Z")
Tonight the BRCA1 gene page will not load for me. I have tried repeatedly over the course of the evening and it fails every time, showing only the message “Unable to load gene.” What fails: Direct URL: gnomAD Same URL… --- ## [gnomAD v4.1 cohort inclusion](https://discuss.gnomad.broadinstitute.org/t/gnomad-v4-1-cohort-inclusion/834)
**Author:** [@Fred\_Zhou](https://discuss.gnomad.broadinstitute.org/u/Fred_Zhou)\ **Replies:** 1\ **Last updated:** [August 11, 2026, 9:45pm UTC](https://discuss.gnomad.broadinstitute.org/t/gnomad-v4-1-cohort-inclusion/834 "2026-08-11T21:45:08Z")
Hi all, I am checking allele frequencies and would like to compare them with those from other datasets. I remember that there was previously information available on which cohorts or datasets were included in the gnomA… --- ## [Gnomad WGS AFs are often ~10x the Gnomad WES AF](https://discuss.gnomad.broadinstitute.org/t/gnomad-wgs-afs-are-often-10x-the-gnomad-wes-af/851)
**Author:** [@stu2](https://discuss.gnomad.broadinstitute.org/u/stu2)\ **Replies:** 1\ **Last updated:** [October 13, 2026, 5:12am UTC](https://discuss.gnomad.broadinstitute.org/t/gnomad-wgs-afs-are-often-10x-the-gnomad-wes-af/851 "2026-10-13T05:12:32Z")
Hi all, First, apologies for the cross-posting - I’ve posted this in Biostars but couldn’t get to the bottom of it. I am trying to investigate population allele frequencies from Gnomad v4.1 but I have found that I can’… --- ## [Urgent query - discrepancy between SVs v2.1 & SVs v4.1: missing hemizygotes in the larger dataset](https://discuss.gnomad.broadinstitute.org/t/urgent-query-discrepancy-between-svs-v2-1-svs-v4-1-missing-hemizygotes-in-the-larger-dataset/839)
**Author:** [@Gyorgy\_Fenyofalvi](https://discuss.gnomad.broadinstitute.org/u/Gyorgy_Fenyofalvi)\ **Replies:** 2\ **Last updated:** [July 6, 2026, 4:19pm UTC](https://discuss.gnomad.broadinstitute.org/t/urgent-query-discrepancy-between-svs-v2-1-svs-v4-1-missing-hemizygotes-in-the-larger-dataset/839 "2026-07-06T16:19:54Z")
Hello, This duplication (DMD exons 56-60) is reported in the two datasets with the same size & breakpoints: GnomAD SVs v2.1 has 1 female carrier, and 6 hemizygotes (which is quite unlikely statistically). While in… --- ## [Centromeric DEL detected by Manta and visible in coverage, but missing from gnomAD-SV](https://discuss.gnomad.broadinstitute.org/t/centromeric-del-detected-by-manta-and-visible-in-coverage-but-missing-from-gnomad-sv/833)
**Author:** [@Veronique\_Geoffroy](https://discuss.gnomad.broadinstitute.org/u/Veronique_Geoffroy)\ **Replies:** 2\ **Last updated:** [June 6, 2026, 1:22pm UTC](https://discuss.gnomad.broadinstitute.org/t/centromeric-del-detected-by-manta-and-visible-in-coverage-but-missing-from-gnomad-sv/833 "2026-06-06T13:22:36Z")
Hello, I am analyzing structural variants in a WGS cohort and have encountered a deletion that raises some questions regarding the gnomAD-SV filtering process. The variant is a DEL on chr11:54,756,310–54,778,113 (GRCh3… --- ## [Stratified coverage counts for gnomAD v4](https://discuss.gnomad.broadinstitute.org/t/stratified-coverage-counts-for-gnomad-v4/814)
**Author:** [@crowlands](https://discuss.gnomad.broadinstitute.org/u/crowlands)\ **Replies:** 1\ **Last updated:** [May 12, 2026, 8:59pm UTC](https://discuss.gnomad.broadinstitute.org/t/stratified-coverage-counts-for-gnomad-v4/814 "2026-05-12T20:59:17Z")
Hi gnomAD team, Thanks for continuing to maintain such an essential resource. As part of an approach to combine in-house sequencing data with gnomAD summary data, we want to identify variant positions with significantl… --- ## [V4.1.1 variant md5sums outdated](https://discuss.gnomad.broadinstitute.org/t/v4-1-1-variant-md5sums-outdated/829)
**Author:** [@christopherlee](https://discuss.gnomad.broadinstitute.org/u/christopherlee)\ **Replies:** 2\ **Last updated:** [May 27, 2026, 9:03pm UTC](https://discuss.gnomad.broadinstitute.org/t/v4-1-1-variant-md5sums-outdated/829 "2026-05-27T21:03:43Z")
The md5sums listed for both the exomes and genomes v4.1.1 variants files are instead the md5sums for the v4.1 files. Can I get verification that the links are correct to the v4.1.1 files and have the updated m5sums built… --- ## [4.1 CNV site count on gnomAD website differ from VCF/BED files](https://discuss.gnomad.broadinstitute.org/t/4-1-cnv-site-count-on-gnomad-website-differ-from-vcf-bed-files/783)
**Author:** [@Gerardo\_Perez](https://discuss.gnomad.broadinstitute.org/u/Gerardo_Perez)\ **Replies:** 1\ **Last updated:** [December 9, 2025, 8:52pm UTC](https://discuss.gnomad.broadinstitute.org/t/4-1-cnv-site-count-on-gnomad-website-differ-from-vcf-bed-files/783 "2025-12-09T20:52:23Z")
Hello, We noticed a difference in the reported site count for the GD\_16p11.2-BP4-BP5\_\_DEL variant between the gnomAD website and the VCF file. The gnomAD website reports a site count of 114 for this variant: gnomAD … --- ## [Clarification on gnomAD v4.1 Data in GCP](https://discuss.gnomad.broadinstitute.org/t/clarification-on-gnomad-v4-1-data-in-gcp/777)
**Author:** [@Fatima\_Farhan](https://discuss.gnomad.broadinstitute.org/u/Fatima_Farhan)\ **Replies:** 1\ **Last updated:** [November 19, 2025, 9:52pm UTC](https://discuss.gnomad.broadinstitute.org/t/clarification-on-gnomad-v4-1-data-in-gcp/777 "2025-11-19T21:52:51Z")
Dear gnomAD Team, Could you please confirm whether the gnomAD v4.1 data available in GCP includes both UK Biobank and non-UK Biobank samples, or only one of them? We’ve noticed some variants where VEP and our gnomAD pl… --- ## [Discrepancies in AN values for multiallelic sites](https://discuss.gnomad.broadinstitute.org/t/discrepancies-in-an-values-for-multiallelic-sites/796)
**Author:** [@olga\_v](https://discuss.gnomad.broadinstitute.org/u/olga_v)\ **Replies:** 2\ **Last updated:** [February 26, 2026, 5:58pm UTC](https://discuss.gnomad.broadinstitute.org/t/discrepancies-in-an-values-for-multiallelic-sites/796 "2026-02-26T17:58:36Z")
Dear gnomAD team, I have a question regarding the procedure used to compute total allele number (AN) for multiallelic sites in the gnomAD v4.1 dataset. I have come across multiple instances of apparent discrepancies be… --- ## [Gene Deletions as LOF?](https://discuss.gnomad.broadinstitute.org/t/gene-deletions-as-lof/775)
**Author:** [@chrisvulpe](https://discuss.gnomad.broadinstitute.org/u/chrisvulpe)\ **Replies:** 2\ **Last updated:** [November 19, 2025, 9:24pm UTC](https://discuss.gnomad.broadinstitute.org/t/gene-deletions-as-lof/775 "2025-11-19T21:24:39Z")
I am looking at the UGT2B7 gene which is known to have a lot of clinically relevant deletions which take out the whole gene but Gnomad doesnt seem to count these as LOF. I was wondering if there is any way to find these… --- ## [How to get genome ancestry group data statistics from api](https://discuss.gnomad.broadinstitute.org/t/how-to-get-genome-ancestry-group-data-statistics-from-api/768)
**Author:** [@Riyu](https://discuss.gnomad.broadinstitute.org/u/Riyu)\ **Replies:** 0\ **Last updated:** [October 27, 2025, 9:52am UTC](https://discuss.gnomad.broadinstitute.org/t/how-to-get-genome-ancestry-group-data-statistics-from-api/768 "2025-10-27T09:52:37Z")
I’d like to get the genome and exome total number for each ancestry group through api. I have tested the api data, I can get the exome statistics but i can’t get the genome data: API\_URL = " https://gnomad.broadinsti… --- ## [Structural variants](https://discuss.gnomad.broadinstitute.org/t/structural-variants/805)
**Author:** [@stephane](https://discuss.gnomad.broadinstitute.org/u/stephane)\ **Replies:** 1\ **Last updated:** [May 4, 2026, 2:58pm UTC](https://discuss.gnomad.broadinstitute.org/t/structural-variants/805 "2026-05-04T14:58:33Z")
Dear members of gnomAD, We are investigating structural variation in a repetitive region on human chromosome 15. In the SVs v4.1.0 database, we identified two sets of deletion variants - one comprising three calls and t… --- ## [HGDP 1kG call set phasing information](https://discuss.gnomad.broadinstitute.org/t/hgdp-1kg-call-set-phasing-information/843)
**Author:** [@Karl](https://discuss.gnomad.broadinstitute.org/u/Karl)\ **Replies:** 1\ **Last updated:** [August 7, 2026, 6:43pm UTC](https://discuss.gnomad.broadinstitute.org/t/hgdp-1kg-call-set-phasing-information/843 "2026-08-07T18:43:54Z")
Dear gnomAD team, Thanks for your efforts and your great work. I downloaded the HGDP + 1KG callset. Looking at the data, I see the genotype being reported as e.g., ‘0/0’, which, I understand, indicates unphased data. … --- ## [Variant is in gnomAD, not in gnomAD non-UKB, but also not in UKB](https://discuss.gnomad.broadinstitute.org/t/variant-is-in-gnomad-not-in-gnomad-non-ukb-but-also-not-in-ukb/812)
**Author:** [@bvandenaardweg](https://discuss.gnomad.broadinstitute.org/u/bvandenaardweg)\ **Replies:** 2\ **Last updated:** [April 28, 2026, 12:13pm UTC](https://discuss.gnomad.broadinstitute.org/t/variant-is-in-gnomad-not-in-gnomad-non-ukb-but-also-not-in-ukb/812 "2026-04-28T12:13:50Z")
Hi there! I have a question concerning a specific variant: 16-3731261-G-C. This variant is present once in v4.1.1., but is absent from v4.1.1. (non-UKB), leading me to believe it is in the UKB subset of gnomAD. Yet, the … --- ## [Download files - coverage: v3 has genome cov., Gnomad v4 has only exome cov](https://discuss.gnomad.broadinstitute.org/t/download-files-coverage-v3-has-genome-cov-gnomad-v4-has-only-exome-cov/793)
**Author:** [@Maximilian\_Haeussler](https://discuss.gnomad.broadinstitute.org/u/Maximilian_Haeussler)\ **Replies:** 2\ **Last updated:** [January 29, 2026, 4:14pm UTC](https://discuss.gnomad.broadinstitute.org/t/download-files-coverage-v3-has-genome-cov-gnomad-v4-has-only-exome-cov/793 "2026-01-29T16:14:32Z")
Hi, at the UCSC Genome Browser, we got a request for the gnomad V3 coverage, so I loaded that, but you provide only the genome coverage files: gnomAD For V4, you provide only the exome coverage: gnomAD Can you explain … --- ## [Skewed sex distribution of SVs in PAR1](https://discuss.gnomad.broadinstitute.org/t/skewed-sex-distribution-of-svs-in-par1/804)
**Author:** [@mattle1990](https://discuss.gnomad.broadinstitute.org/u/mattle1990)\ **Replies:** 2\ **Last updated:** [May 4, 2026, 2:51pm UTC](https://discuss.gnomad.broadinstitute.org/t/skewed-sex-distribution-of-svs-in-par1/804 "2026-05-04T14:51:35Z")
Hi, We are interested in the DHRSX gene, located in the pseudoautosomal region of X/Y chromosomes and recently were contacted with a case of a heterozygous deletion encompassing Exon 2. There are two deletions of a simi… --- ## [gnomAD browser very slow](https://discuss.gnomad.broadinstitute.org/t/gnomad-browser-very-slow/801)
**Author:** [@Yasmin](https://discuss.gnomad.broadinstitute.org/u/Yasmin)\ **Replies:** 1\ **Last updated:** [February 19, 2026, 9:40pm UTC](https://discuss.gnomad.broadinstitute.org/t/gnomad-browser-very-slow/801 "2026-02-19T21:40:21Z")
Either get the message ‘unable to load variant’ or ‘service overload’ in the mornings (UK time). --- ## [Very low allele frequencies in chrX of gnomad4.1 Joint](https://discuss.gnomad.broadinstitute.org/t/very-low-allele-frequencies-in-chrx-of-gnomad4-1-joint/779)
**Author:** [@Yasir](https://discuss.gnomad.broadinstitute.org/u/Yasir)\ **Replies:** 1\ **Last updated:** [November 21, 2025, 8:24pm UTC](https://discuss.gnomad.broadinstitute.org/t/very-low-allele-frequencies-in-chrx-of-gnomad4-1-joint/779 "2025-11-21T20:24:44Z")
I am looking to filter out common IKBKG variants (found in chrX). I downloaded the gnomad.joint.v4.1.sites.chrX.vcf.bgz file and extracted only the IKBKG variants where AF\_joint \> 0.1 with the below command but I only go… --- ## [Af-only-gnomad.hg38.vcf.gz gnomAD v4/v4.1?](https://discuss.gnomad.broadinstitute.org/t/af-only-gnomad-hg38-vcf-gz-gnomad-v4-v4-1/780)
**Author:** [@clma12](https://discuss.gnomad.broadinstitute.org/u/clma12)\ **Replies:** 0\ **Last updated:** [November 21, 2025, 2:07pm UTC](https://discuss.gnomad.broadinstitute.org/t/af-only-gnomad-hg38-vcf-gz-gnomad-v4-v4-1/780 "2025-11-21T14:07:19Z")
Hello :slight\_smile: There seems not to be available an af-only-gnomad.hg38 v.4 vcf file (am I correct?). Would someone be willing to share the append of all-chromosomes vcfs from this version? --- ## [Error message 429](https://discuss.gnomad.broadinstitute.org/t/error-message-429/860)
**Author:** [@kmachini](https://discuss.gnomad.broadinstitute.org/u/kmachini)\ **Replies:** 2\ **Last updated:** [September 30, 2026, 1:32pm UTC](https://discuss.gnomad.broadinstitute.org/t/error-message-429/860 "2026-09-30T13:32:47Z")
I am trying to access the gnomAD page and I get the error message 429 Too Many Requests. --- ## [SLC2A1 variant information please help!](https://discuss.gnomad.broadinstitute.org/t/slc2a1-variant-information-please-help/794)
**Author:** [@mayast](https://discuss.gnomad.broadinstitute.org/u/mayast)\ **Replies:** 1\ **Last updated:** [February 6, 2026, 7:39pm UTC](https://discuss.gnomad.broadinstitute.org/t/slc2a1-variant-information-please-help/794 "2026-02-06T19:39:00Z")
SLC2A1:c.1373G\>A /rs752143706 SNV:1-42927147-C-T(GRCh38) This variant was identified in a prenatal case and is classified as pathogenic. The variant is reported in 8 alleles in gnomAd v.4.1 I am looking for any info… --- ## [Bug affecting transcript display in gnomAD v2.1.1](https://discuss.gnomad.broadinstitute.org/t/bug-affecting-transcript-display-in-gnomad-v2-1-1/810)
**Author:** [@audreykoneill](https://discuss.gnomad.broadinstitute.org/u/audreykoneill)\ **Replies:** 2\ **Last updated:** [April 1, 2026, 3:43pm UTC](https://discuss.gnomad.broadinstitute.org/t/bug-affecting-transcript-display-in-gnomad-v2-1-1/810 "2026-04-01T15:43:52Z")
Description: Cannot access transcript display in gnomAD v2.1.1. This applies to multiple genes. This is affecting numerous people in my organization. Error message: Cannot read properties of undefined (reading ‘tissue’) … --- ## [Presentation on misconceptions about gnomAD](https://discuss.gnomad.broadinstitute.org/t/presentation-on-misconceptions-about-gnomad/824)
**Author:** [@kchao](https://discuss.gnomad.broadinstitute.org/u/kchao)\ **Replies:** 0\ **Last updated:** [May 12, 2026, 3:35pm UTC](https://discuss.gnomad.broadinstitute.org/t/presentation-on-misconceptions-about-gnomad/824 "2026-05-12T15:35:56Z")
Missed our recent talk on common misconceptions about gnomAD? Watch the recording covering what the resource is, what metadata are available, and the types of studies it includes. --- ## [Missense constraint updated in v4.1.1?](https://discuss.gnomad.broadinstitute.org/t/missense-constraint-updated-in-v4-1-1/841)
**Author:** [@Marissa\_Ellingson](https://discuss.gnomad.broadinstitute.org/u/Marissa_Ellingson)\ **Replies:** 0\ **Last updated:** [June 29, 2026, 3:47pm UTC](https://discuss.gnomad.broadinstitute.org/t/missense-constraint-updated-in-v4-1-1/841 "2026-06-29T15:47:41Z")
Hello, The gnomAD v4.0 gene constraint announcement stated that “v4.0 metrics are still experimental. We recommend that anyone using the v4.0 constraint results should consider the metric to be in a beta stage, and anyo… --- ## [Missing Data in your database](https://discuss.gnomad.broadinstitute.org/t/missing-data-in-your-database/856)
**Author:** [@Ahmed\_Nawzad\_Hasan](https://discuss.gnomad.broadinstitute.org/u/Ahmed_Nawzad_Hasan)\ **Replies:** 1\ **Last updated:** [September 9, 2026, 3:28pm UTC](https://discuss.gnomad.broadinstitute.org/t/missing-data-in-your-database/856 "2026-09-09T15:28:26Z")
Dear recipient, I really appreciate your website gnomAD, it helps researchers, clinicians, etc. I just have a question as we are working on a project about PDCD1 gene sequencing, I cannot understand why there is a miss… --- ## [Paths to all HGDP and 1KG bam files](https://discuss.gnomad.broadinstitute.org/t/paths-to-all-hgdp-and-1kg-bam-files/802)
**Author:** [@ryan](https://discuss.gnomad.broadinstitute.org/u/ryan)\ **Replies:** 1\ **Last updated:** [February 23, 2026, 9:06pm UTC](https://discuss.gnomad.broadinstitute.org/t/paths-to-all-hgdp-and-1kg-bam-files/802 "2026-02-23T21:06:20Z")
Some individual-level bam alignment files are available for download (I guess these are from HGPD and 1KG). Clicking the “read data” section, exome/genome (e.g. “het \[genome\] #1”) button reveals a path (e.g. URL: /reads/… --- ## [P.met2864ile Variant](https://discuss.gnomad.broadinstitute.org/t/p-met2864ile-variant/797)
**Author:** [@Nilse1](https://discuss.gnomad.broadinstitute.org/u/Nilse1)\ **Replies:** 1\ **Last updated:** [February 20, 2026, 9:40pm UTC](https://discuss.gnomad.broadinstitute.org/t/p-met2864ile-variant/797 "2026-02-20T21:40:45Z")
Hello together, I am writing with a question about the variant listed in ClinVar with Variation ID 1935813. In ClinVar, this variant is associated with the following conditions: Marfan syndrome, familial thoracic aortic… --- ## [Conflict in age-related INFO fields](https://discuss.gnomad.broadinstitute.org/t/conflict-in-age-related-info-fields/767)
**Author:** [@Juse](https://discuss.gnomad.broadinstitute.org/u/Juse)\ **Replies:** 1\ **Last updated:** [November 7, 2025, 9:53pm UTC](https://discuss.gnomad.broadinstitute.org/t/conflict-in-age-related-info-fields/767 "2025-11-07T21:53:12Z")
Dear gnomAD team, I noticed that gnomAD v4 provides age-related information, for example: ##INFO=\ **Author:** [@Alia\_Benkahla](https://discuss.gnomad.broadinstitute.org/u/Alia_Benkahla)\ **Replies:** 1\ **Last updated:** [February 5, 2026, 8:35pm UTC](https://discuss.gnomad.broadinstitute.org/t/access-tunisian-data/795 "2026-02-05T20:35:08Z") Dear All, Thank you all for this resources. I would like to know how it would be possible to access the WGS fastq files from individuals with Tunisian ancestry. Many thanks, Best, Alia. --- ## [Feedback from using the GraphQL API for ClinPGx](https://discuss.gnomad.broadinstitute.org/t/feedback-from-using-the-graphql-api-for-clinpgx/825)
**Author:** [@Ryan\_Whaley](https://discuss.gnomad.broadinstitute.org/u/Ryan_Whaley)\ **Replies:** 0\ **Last updated:** [May 19, 2026, 7:05pm UTC](https://discuss.gnomad.broadinstitute.org/t/feedback-from-using-the-graphql-api-for-clinpgx/825 "2026-05-19T19:05:00Z")
Hi, I’ve got some feedback and questions about using the gnomAD API to pull basic frequency data. For background, I’m a developer at ClinPGx. We’ve used gnomAD v2 and v3 data in our system for a while and we want to pul… --- ## [Best practices for filtering Manta SV calls before comparison with gnomAD-SV?](https://discuss.gnomad.broadinstitute.org/t/best-practices-for-filtering-manta-sv-calls-before-comparison-with-gnomad-sv/838)
**Author:** [@Veronique\_Geoffroy](https://discuss.gnomad.broadinstitute.org/u/Veronique_Geoffroy)\ **Replies:** 0\ **Last updated:** [June 9, 2026, 11:58am UTC](https://discuss.gnomad.broadinstitute.org/t/best-practices-for-filtering-manta-sv-calls-before-comparison-with-gnomad-sv/838 "2026-06-09T11:58:47Z")
Hello, We are working with a cohort of ~800 WGS samples and have generated SV calls using Manta. For downstream analyses, we annotate each SV according to whether a matching event is observed in gnomAD-SV. One concern … --- ## [Mapping Quality and Pseudogene Interference](https://discuss.gnomad.broadinstitute.org/t/mapping-quality-and-pseudogene-interference/823)
**Author:** [@NM-G08](https://discuss.gnomad.broadinstitute.org/u/NM-G08)\ **Replies:** 0\ **Last updated:** [May 8, 2026, 7:43pm UTC](https://discuss.gnomad.broadinstitute.org/t/mapping-quality-and-pseudogene-interference/823 "2026-05-08T19:43:25Z")
Hello, I’m trying to better understand the reliability of allele frequencies in the gnomAD database from a variant curation perspective. Many genes have pseudogenes, and I was wondering if there is some quality metric … --- ## [Homozygotes enrichment in repeated regions](https://discuss.gnomad.broadinstitute.org/t/homozygotes-enrichment-in-repeated-regions/832)
**Author:** [@MathisB](https://discuss.gnomad.broadinstitute.org/u/MathisB)\ **Replies:** 0\ **Last updated:** [May 31, 2026, 4:06pm UTC](https://discuss.gnomad.broadinstitute.org/t/homozygotes-enrichment-in-repeated-regions/832 "2026-05-31T16:06:50Z")
Hello, We have noticed that some structural variants in certain subpopulations were particularly enriched in homozygotes within repeated regions, for exemple DEL\_CHR15\_C65ED383, DEL\_CHR15\_3430BA77 and DEL\_CHR15\_FD0D5513… --- ## [Missing variant?](https://discuss.gnomad.broadinstitute.org/t/missing-variant/859)
**Author:** [@JAb](https://discuss.gnomad.broadinstitute.org/u/JAb)\ **Replies:** 1\ **Last updated:** [September 23, 2026, 8:51pm UTC](https://discuss.gnomad.broadinstitute.org/t/missing-variant/859 "2026-09-23T20:51:23Z")
Hi there, Could someone please explain to me why SNV 12-51916114-T-G is present in gnomAD v4.1.1 (allele count 0) but 12-51916114-T-C and 12-51916114-T-A in the same nucleotide are not? Thanks! --- ## [Finding SNV's associated with common diseases](https://discuss.gnomad.broadinstitute.org/t/finding-snvs-associated-with-common-diseases/847)
**Author:** [@David\_Moskowitz](https://discuss.gnomad.broadinstitute.org/u/David_Moskowitz)\ **Replies:** 0\ **Last updated:** [August 7, 2026, 7:12pm UTC](https://discuss.gnomad.broadinstitute.org/t/finding-snvs-associated-with-common-diseases/847 "2026-08-07T19:12:39Z")
I’m a primary care physician trying to integrate genomics into my clinical practice. A patient with early Alzheimer’s disease (so-called “Mild Cognitive Impairment”) with \<1st percentile hippocampal volume and elevated s… --- ## [Extremely High pLoF Frequency and Homozygote Counts in PRKAG2 (gnomAD v4.1.0)](https://discuss.gnomad.broadinstitute.org/t/extremely-high-plof-frequency-and-homozygote-counts-in-prkag2-gnomad-v4-1-0/784)
**Author:** [@Shicheng\_Guo](https://discuss.gnomad.broadinstitute.org/u/Shicheng_Guo)\ **Replies:** 0\ **Last updated:** [December 16, 2025, 8:49pm UTC](https://discuss.gnomad.broadinstitute.org/t/extremely-high-plof-frequency-and-homozygote-counts-in-prkag2-gnomad-v4-1-0/784 "2025-12-16T20:49:19Z")
Dear gnomAD Team, I hope this message finds you well. I am writing to request clarification regarding a variant in PRKAG2 observed in gnomAD v4.1.0. Specifically, the variant: Variant ID: 7-151595309-A-AT HGVS: p.… --- ## [Variant search - HGVS support](https://discuss.gnomad.broadinstitute.org/t/variant-search-hgvs-support/853)
**Author:** [@ps209497](https://discuss.gnomad.broadinstitute.org/u/ps209497)\ **Replies:** 0\ **Last updated:** [September 9, 2026, 10:07am UTC](https://discuss.gnomad.broadinstitute.org/t/variant-search-hgvs-support/853 "2026-09-09T10:07:29Z")
First, thank you for the amazing gnomAD project — it is an essential resource for all of us working with variants! The problem of understanding different HGVS representations, including RefSeq transcripts and HGVS conse… --- ## [MPC v4.1.1 transcript count in paper differs from score file](https://discuss.gnomad.broadinstitute.org/t/mpc-v4-1-1-transcript-count-in-paper-differs-from-score-file/849)
**Author:** [@Gerardo\_Perez](https://discuss.gnomad.broadinstitute.org/u/Gerardo_Perez)\ **Replies:** 0\ **Last updated:** [August 27, 2026, 3:12am UTC](https://discuss.gnomad.broadinstitute.org/t/mpc-v4-1-1-transcript-count-in-paper-differs-from-score-file/849 "2026-08-27T03:12:58Z")
Hello, We noticed a difference between the MPC v4.1.1 preprint and the downloadable score file. The preprint (https://doi.org/10.1101/2024.04.11.588920), Methods \> Transcripts, states: “For high quality transcripts, … [Next page](https://discuss.gnomad.broadinstitute.org/top.md?page=1&per_page=50)