Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
WDR62_chr19_36049897_36110108	36069032	ACCCCCAC others(40): Show ACCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGCTAAC	A A	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	420	0.0024	-47	c.882 others(64): Show c.882+1038_882+1084delTGGACGGGGCGGCTGGCCGGGCGGGGGC TAACCCCCCACCTCCCTCC	WDR62	ENSG00000075702.19	transcript	ENST00000401500.7	protein_coding	7/31		INFO_REALIGN_3_PRIME	chr19	TogoVar
WWC2_chr4_183094257_183325777	183164304	ATATATAT others(40): Show ATATATATTATATATACATATATATATATATATACATATATATATTAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0242 a0001c0001t0037g0242	1	242	0.0041	-47	c.132 others(66): Show c.132-29294_132-29248delTATATATTATATATACATATATATAT ATATATACATATATATATTAT	WWC2	ENSG00000151718.16	transcript	ENST00000403733.8	protein_coding	1/22			chr4	TogoVar
WWP2_chr16_69757332_69946739	69912974	ATATATAT others(40): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02976.hp1 HG03139.hp1 others(1): Show HG02647.hp2 HG02976.hp1 HG03139.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0011 a0001c0002 a0001c0005 a0001c0011	a0001c0002t0005 a0001c0002t0013 a0001c0005t0001 others(1): Show a0001c0002t0005 a0001c0002t0013 a0001c0005t0001 a0001c0011t0005	a0001c0002t0005g0298 a0001c0002t0013g0003 a0001c0005t0001g0235 others(1): Show a0001c0002t0005g0298 a0001c0002t0013g0003 a0001c0005t0001g0235 a0001c0011t0005g0305	4	314	0.0127	-47	c.100 others(66): Show c.1004+4126_1004+4172delATATATATATATATATATATTTTTTT TTTTTTTTTTTTTTTTTTTTT	WWP2	ENSG00000198373.13	transcript	ENST00000359154.7	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
WWP2_chr16_69757332_69946739	69912976	ATATATAT others(40): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00735.hp1 others(23): Show HG00408.hp2 HG00423.hp2 HG00735.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01516.hp1 HG02027.hp2 HG02083.hp2 HG02132.hp1 HG02630.hp2 HG02738.hp2 HG03041.hp1 HG03669.hp1 HG03927.hp1 HG03927.hp2 NA18942.hp1 NA18969.hp1 NA18971.hp2 NA18979.hp2 NA18984.hp2 NA18988.hp2 NA19056.hp1 NA19084.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0011 a0001c0014	a0001c0001t0001 a0001c0002t0003 a0001c0004t0001 others(4): Show a0001c0001t0001 a0001c0002t0003 a0001c0004t0001 a0001c0004t0011 a0001c0005t0001 a0001c0011t0004 a0001c0014t0005	a0001c0001t0001g0208 a0001c0002t0003g0061 a0001c0002t0003g0200 others(23): Show a0001c0001t0001g0208 a0001c0002t0003g0061 a0001c0002t0003g0200 a0001c0002t0003g0201 a0001c0002t0003g0230 a0001c0004t0001g0180 a0001c0004t0001g0194 a0001c0004t0001g0195 a0001c0004t0001g0196 a0001c0004t0001g0197 a0001c0004t0001g0203 a0001c0004t0001g0204 a0001c0004t0001g0205 a0001c0004t0001g0206 a0001c0004t0001g0213 a0001c0004t0001g0216 a0001c0004t0001g0221 a0001c0004t0001g0224 a0001c0004t0001g0229 a0001c0004t0001g0234 a0001c0004t0011g0306 a0001c0005t0001g0160 a0001c0005t0001g0162 a0001c0005t0001g0163 a0001c0011t0004g0307 a0001c0014t0005g0304	26	314	0.0828	-47	c.100 others(66): Show c.1004+4128_1004+4174delATATATATATATATATATTTTTTTTT TTTTTTTTTTTTTTTTTTTTT	WWP2	ENSG00000198373.13	transcript	ENST00000359154.7	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
WWP2_chr16_69757332_69946739	69912978	ATATATAT others(40): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG02040.hp2 others(12): Show HG00423.hp1 HG00609.hp2 HG02040.hp2 HG02080.hp2 NA18941.hp2 NA18943.hp1 NA18952.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA19009.hp2 NA19012.hp2 NA19068.hp2 NA19083.hp2 NA20905.hp1	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0001 a0001c0004 a0001c0005 others(2): Show a0001c0001 a0001c0004 a0001c0005 a0008c0016 a0009c0015	a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 a0008c0016t0002 a0009c0015t0001	a0001c0001t0001g0181 a0001c0004t0001g0202 a0001c0004t0001g0222 others(12): Show a0001c0001t0001g0181 a0001c0004t0001g0202 a0001c0004t0001g0222 a0001c0004t0001g0223 a0001c0005t0001g0045 a0001c0005t0001g0119 a0001c0005t0001g0120 a0001c0005t0001g0164 a0001c0005t0001g0165 a0001c0005t0001g0166 a0001c0005t0001g0168 a0001c0005t0001g0169 a0001c0005t0001g0170 a0008c0016t0002g0211 a0009c0015t0001g0088	15	314	0.0478	-47	c.100 others(66): Show c.1004+4130_1004+4176delATATATATATATATATTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTT	WWP2	ENSG00000198373.13	transcript	ENST00000359154.7	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
WWP2_chr16_69757332_69946739	69912980	ATATATAT others(40): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19080.hp1 NA19085.hp2 NA19070.hp2 NA19080.hp1 NA19085.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0010 a0001c0005t0001 a0001c0005t0010	a0001c0005t0001g0167 a0001c0005t0010g0284 a0001c0005t0010g0285 a0001c0005t0001g0167 a0001c0005t0010g0284 a0001c0005t0010g0285	3	314	0.0096	-47	c.100 others(66): Show c.1004+4132_1004+4178delATATATATATATATTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTT	WWP2	ENSG00000198373.13	transcript	ENST00000359154.7	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
WWP2_chr16_69757332_69946739	69912982	ATATATAT others(40): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	314	0.0032	-47	c.100 others(66): Show c.1004+4134_1004+4180delATATATATATATTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTT	WWP2	ENSG00000198373.13	transcript	ENST00000359154.7	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
XYLB_chr3_38341785_38419985	38389551	AGACGGGG others(40): Show AGACGGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCACCTCCCTCCCG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02622.hp2 others(2): Show HG01167.hp2 HG01169.hp2 HG02622.hp2 HG03041.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0234 a0001c0001t0003g0330 a0001c0001t0003g0336 others(2): Show a0001c0001t0003g0234 a0001c0001t0003g0330 a0001c0001t0003g0336 a0001c0001t0003g0338 a0001c0001t0003g0339	5	358	0.0140	-47	c.129 others(66): Show c.1292-5934_1292-5888delCGGGGGCTGACCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGG	XYLB	ENSG00000093217.11	transcript	ENST00000207870.8	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
YJU2_chr19_4242080_4274088	4247583	GTGTGTGT others(40): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02976.hp2 NA19001.hp1 HG02055.hp1 HG02976.hp2 NA19001.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0011 a0001c0002 a0004c0011	a0001c0002t0001 a0004c0011t0001 a0001c0002t0001 a0004c0011t0001	a0001c0002t0001g0156 a0001c0002t0001g0158 a0004c0011t0001g0157 a0001c0002t0001g0156 a0001c0002t0001g0158 a0004c0011t0001g0157	3	384	0.0078	-47	c.24+ others(60): Show c.24+414_24+460delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGT	YJU2	ENSG00000105248.16	transcript	ENST00000262962.12	protein_coding	1/7			chr19	TogoVar
YPEL2_chr17_59326655_59406729	59383588	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0098 a0001c0001t0016g0098	1	350	0.0029	-47	c.118 others(64): Show c.118-4737_118-4691delAAAAAAAAAAAAAAAAAAAAATATATAT ATATATATATATATATATA	YPEL2	ENSG00000175155.11	transcript	ENST00000312655.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
ZAN_chr7_100728595_100802797	100741871	CCCCCCAC others(40): Show CCCCCCACCTCCCTCCCGGATGGCACGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0012 a0012	a0012c0023 a0012c0023	a0012c0023t0001 a0012c0023t0001	a0012c0023t0001g0306 a0012c0023t0001g0306	1	308	0.0033	-47	c.766 others(64): Show c.766+3264_766+3310delACCTCCCTCCCGGATGGCACGGCTGGCC GGGCGGGGGGCTGACCCCC	ZAN	ENSG00000146839.19	transcript	ENST00000613979.5	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZDHHC19_chr3_196192452_196216400	196207606	TCAGGCCC others(40): Show TCAGGCCCGACTCCGCCCCGAGCCCCGCCCCGCCCCTGGCCCCGCCCC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03486.hp1 HG03579.hp1 others(2): Show HG03209.hp1 HG03486.hp1 HG03579.hp1 NA19030.hp1 NA20129.hp1	a0003 a0007 a0003 a0007	a0003c0005 a0007c0011 a0003c0005 a0007c0011	a0003c0005t0002 a0007c0011t0002 a0003c0005t0002 a0007c0011t0002	a0003c0005t0002g0294 a0003c0005t0002g0296 a0003c0005t0002g0297 others(2): Show a0003c0005t0002g0294 a0003c0005t0002g0296 a0003c0005t0002g0297 a0003c0005t0002g0298 a0007c0011t0002g0295	5	442	0.0113	-47	c.582 others(62): Show c.582-150_582-104delGGGGCGGGGCCAGGGGCGGGGCGGGGCTCG GGGCGGAGTCGGGCCTG	ZDHHC19	ENSG00000163958.14	transcript	ENST00000296326.8	protein_coding	4/7			chr3	TogoVar
ZFAND3_chr6_37814727_38159624	38041743	TCCTCCTC others(40): Show TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0203 a0001c0001t0035g0203	1	318	0.0031	-47	c.113 others(66): Show c.113-19849_113-19803delCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCTTCTTTC	ZFAND3	ENSG00000156639.12	transcript	ENST00000287218.9	protein_coding	2/5			chr6	TogoVar
ZFAND3_chr6_37814727_38159624	38041755	TCCTCCTC others(40): Show TCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTTTCTTCTTCTTCTCC	T T	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18980.hp1 NA19068.hp2 NA18974.hp1 NA18980.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0002 a0001c0001t0008 a0001c0001t0010	a0001c0001t0002g0068 a0001c0001t0008g0070 a0001c0001t0010g0067 a0001c0001t0002g0068 a0001c0001t0008g0070 a0001c0001t0010g0067	3	318	0.0094	-47	c.113 others(66): Show c.113-19837_113-19791delCCTCCTCCTCCTCCTCCTCCTCCTCC TCTTCTTTCTTCTTCTTCTCC	ZFAND3	ENSG00000156639.12	transcript	ENST00000287218.9	protein_coding	2/5			chr6	TogoVar
ZFAND3_chr6_37814727_38159624	38041756	CCTCCTCC others(40): Show CCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTTTCTTCTTCTTCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	318	0.0031	-47	c.113 others(66): Show c.113-19834_113-19788delCCTCCTCCTCCTCCTCCTCCTCCTCT TCTTTCTTCTTCTTCTCCTCT	ZFAND3	ENSG00000156639.12	transcript	ENST00000287218.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
ZMAT3_chr3_179012223_179076809	179031957	CCCCCTCC others(40): Show CCCCCTCCTCCTCCCCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0318 a0001c0001t0033g0318	1	350	0.0029	-47	c.271 others(63): Show c.271-1005_271-959delAGGGGGAGGAGGAGGGGGAGGAGGAGGGG GAGGGGGAGGAGGAGGGG	ZMAT3	ENSG00000172667.11	transcript	ENST00000311417.7	protein_coding	2/5			chr3	TogoVar
ZMAT3_chr3_179012223_179076809	179031963	CCTCCTCC others(40): Show CCTCCTCCCCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp1 HG01169.hp2 others(8): Show HG00735.hp1 HG01167.hp1 HG01169.hp2 HG01433.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02717.hp1 HG03130.hp2 HG04199.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0044 a0001c0001t0183 others(7): Show a0001c0001t0001 a0001c0001t0044 a0001c0001t0183 a0001c0001t0200 a0001c0001t0244 a0001c0001t0245 a0001c0001t0246 a0001c0001t0247 a0001c0001t0248 a0001c0001t0249	a0001c0001t0001g0320 a0001c0001t0044g0003 a0001c0001t0183g0097 others(7): Show a0001c0001t0001g0320 a0001c0001t0044g0003 a0001c0001t0183g0097 a0001c0001t0200g0102 a0001c0001t0244g0096 a0001c0001t0245g0100 a0001c0001t0246g0101 a0001c0001t0247g0043 a0001c0001t0248g0099 a0001c0001t0249g0098	11	350	0.0314	-47	c.271 others(63): Show c.271-1011_271-965delAGGGGGAGGGGGAGGAGGAGGGGGAGGAG GAGGGGGAGGGGGAGGAG	ZMAT3	ENSG00000172667.11	transcript	ENST00000311417.7	protein_coding	2/5			chr3	TogoVar
ZMAT4_chr8_40525590_40902826	40601504	AGAAAGAG others(40): Show AGAAAGAGAAAGAGAAAGAAAGAGGGAGAAAGGGGAAGGGGGAGTGAG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	228	0.0044	-47	c.578 others(66): Show c.578-20290_578-20244delCTCACTCCCCCTTCCCCTTTCTCCCT CTTTCTTTCTCTTTCTCTTTC	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	5/6			chr8	TogoVar
ZNF487_chr10_43432111_43488181	43460572	TCACCATC others(40): Show TCACCATCTTGACCAGGCTGGTCTTGAACTCCTGACCTCAGATGCCAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02486.hp1 others(9): Show HG01891.hp2 HG02109.hp1 HG02486.hp1 HG02615.hp2 HG02630.hp2 HG02809.hp1 HG02965.hp1 HG02976.hp2 HG03130.hp1 HG03195.hp1 HG03516.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(9): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0149	12	332	0.0361	-47	c.-93 others(66): Show c.-93-15147_-93-15101delACCATCTTGACCAGGCTGGTCTTGAA CTCCTGACCTCAGATGCCACC	ZNF487	ENSG00000243660.12	transcript	ENST00000437590.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
ZNF514_chr2_95140000_95164848	95159646	ACCCCGCG others(40): Show ACCCCGCGCCAGCCCCCGCCCGCCACCCCGCGCCAGCCCCCGCGTCCG	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00621.hp2 others(71): Show HG00099.hp1 HG00423.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01257.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02647.hp2 HG02738.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG04115.hp1 HG04204.hp1 HG06807.hp1 NA18950.hp2 NA18962.hp2 NA18983.hp1 NA19004.hp1 NA19043.hp2 NA19056.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0004 a0001c0001 a0001c0005 a0002c0004	a0001c0001t0002 a0001c0001t0005 a0001c0001t0019 others(10): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0019 a0001c0001t0034 a0001c0001t0035 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0005t0002 a0002c0004t0002	a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0099 others(18): Show a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0107 a0001c0001t0005g0003 a0001c0001t0005g0018 a0001c0001t0005g0100 a0001c0001t0019g0022 a0001c0001t0019g0146 a0001c0001t0034g0046 a0001c0001t0035g0144 a0001c0001t0035g0145 a0001c0001t0057g0102 a0001c0001t0058g0103 a0001c0001t0059g0098 a0001c0001t0060g0108 a0001c0001t0061g0104 a0001c0001t0062g0109 a0001c0005t0002g0106 a0002c0004t0002g0105	74	366	0.2022	-47	c.-54 others(56): Show c.-549_-503delCGGACGCGGGGGCTGGCGCGGGGTGGCGGGCGGGGG CTGGCGCGGGG	ZNF514	ENSG00000144026.14	transcript	ENST00000295208.7	protein_coding	1/5	6394		chr2	TogoVar
ZNF516_chr18_76352682_76500242	76392902	TGGGGGGA others(40): Show TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTG	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0120 a0001c0024t0120	a0001c0024t0120g0274 a0001c0024t0120g0274	1	346	0.0029	-47	c.181 others(68): Show c.1811-12646_1811-12600delCACCTGACCACCTGCCCTCCCCCC ACCTGACCACCTGCCTTCCCCCC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393321	TGGGGGGA others(40): Show TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTG	T T	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02965.hp2 HG03041.hp1 HG01358.hp2 HG02965.hp2 HG03041.hp1	a0001 a0004 a0001 a0004	a0001c0004 a0001c0005 a0004c0017 a0001c0004 a0001c0005 a0004c0017	a0001c0004t0102 a0001c0005t0094 a0004c0017t0074 a0001c0004t0102 a0001c0005t0094 a0004c0017t0074	a0001c0004t0102g0302 a0001c0005t0094g0196 a0004c0017t0074g0301 a0001c0004t0102g0302 a0001c0005t0094g0196 a0004c0017t0074g0301	3	346	0.0087	-47	c.181 others(68): Show c.1811-13065_1811-13019delCACCTGACCACCTGCCTTCCCCCC ACCTGACCACCTGCCCTCCCCCC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF536_chr19_30367384_30563059	30383658	CTTTCTCT others(40): Show CTTTCTCTTTCTTTCTTCCTTTCTTCCTTCCTTTCTTTTCTTTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01943.hp2 HG03471.hp1 others(1): Show HG00639.hp2 HG01943.hp2 HG03471.hp1 NA18983.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0002c0003t0001	a0001c0001t0001g0022 a0001c0002t0002g0118 a0001c0002t0003g0119 others(1): Show a0001c0001t0001g0022 a0001c0002t0002g0118 a0001c0002t0003g0119 a0002c0003t0001g0021	4	212	0.0189	-47	c.-3+ others(64): Show c.-3+11104_-3+11150delTTCTCTTTCTTTCTTCCTTTCTTCCTTC CTTTCTTTTCTTTCTCTTT	ZNF536	ENSG00000198597.10	transcript	ENST00000355537.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF560_chr19_9461355_9503616	9483484	AGGTGGGG others(40): Show AGGTGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGG	A A	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18989.hp2 NA19090.hp2 NA18944.hp1 NA18989.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0226 a0001c0001t0001g0259 a0001c0001t0001g0211 a0001c0001t0001g0226 a0001c0001t0001g0259	3	410	0.0073	-47	c.-56 others(64): Show c.-56-8162_-56-8116delCCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGCTGACCCCCCACC	ZNF560	ENSG00000198028.4	transcript	ENST00000301480.5	protein_coding	2/9			chr19	TogoVar
ZNF599_chr19_34753073_34778215	34777429	ATAATATA others(40): Show ATAATATATGATATATATTAATTAATATATAATATATTATATATTAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG02965.hp1 HG01069.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0007 a0001c0001t0013g0043 a0001c0001t0002g0007 a0001c0001t0013g0043	2	430	0.0047	-47	c.-46 others(58): Show c.-4635_-4589delATTAATATATAATATATTATATATTAATTAATAT ATATCATATATTA	ZNF599	ENSG00000153896.19	transcript	ENST00000329285.13	protein_coding		4215		chr19	TogoVar
ZNF670_chr1_247029637_247083811	247032589	ACCCGGCC others(40): Show ACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	326	0.0031	-47	c.48 others(58): Show c.4813_*4859delCGGGGGCTGACCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGG	ZNF670	ENSG00000277462.2	transcript	ENST00000366503.3	protein_coding		2047		chr1	TogoVar
ZNF670_chr1_247029637_247083811	247032610	GGGAGGGA others(40): Show GGGAGGGAGGTGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	326	0.0031	-47	c.47 others(58): Show c.4792_*4838delAGGACGGGGCGGCTGGCCGGGCGGGGGCTGACCC CCCACCTCCCTCC	ZNF670	ENSG00000277462.2	transcript	ENST00000366503.3	protein_coding		2026		chr1	TogoVar
ZNF696_chr8_143286417_143304952	143301764	GGAGGCGG others(40): Show GGAGGCGGAGGTTGCGGTGAGCCAAGATCACACCACTGCACTCCAGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	434	0.0023	-47	c.49 others(58): Show c.4965_*5011delGAGGCGGAGGTTGCGGTGAGCCAAGATCACACCA CTGCACTCCAGCC	ZNF696	ENSG00000185730.8	transcript	ENST00000330143.8	protein_coding		1813		chr8	TogoVar
ZNF71_chr19_56590302_56629486	56609758	TATAAATG others(40): Show TATAAATGAGGCATACGATATGGATTTTGCCTGTTCCGGACATTGTAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03471.hp2 HG01109.hp2 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0002c0005t0001 a0001c0001t0002 a0002c0005t0001	a0001c0001t0002g0065 a0002c0005t0001g0142 a0001c0001t0002g0065 a0002c0005t0001g0142	2	432	0.0046	-47	c.34- others(62): Show c.34-4037_34-3991delATATGGATTTTGCCTGTTCCGGACATTGTA CATAAATGAGGCATACG	ZNF71	ENSG00000197951.10	transcript	ENST00000599599.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF726_chr19_23909886_23939484	23937211	ACGGGGCG others(40): Show ACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCACCTCCCTCCCAGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0087 a0001c0007t0001g0087	1	416	0.0024	-47	c.32 others(58): Show c.3245_*3291delCGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCA CCTCCCTCCCAGC	ZNF726	ENSG00000213967.12	transcript	ENST00000594466.6	protein_coding		2728		chr19	TogoVar
ZNF787_chr19_56082366_56126295	56104023	GACACCGC others(40): Show GACACCGCCGACCCGTGCCACGCACCGGGAGGGTCCCTACGCACGACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(152): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02155.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02523.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp2 HG03225.hp1 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18966.hp2 NA18969.hp2 NA18972.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp2 NA19060.hp2 NA19063.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(1): Show a0000 a0001 a0002 a0007	a0000c0004 a0000c0014 a0000c0022 others(6): Show a0000c0004 a0000c0014 a0000c0022 a0001c0001 a0001c0011 a0001c0018 a0001c0024 a0002c0003 a0007c0023	a0000c0004t0003 a0000c0004t0004 a0000c0004t0005 others(32): Show a0000c0004t0003 a0000c0004t0004 a0000c0004t0005 a0000c0004t0007 a0000c0004t0008 a0000c0014t0004 a0000c0022t0067 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0021 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0058 a0001c0001t0085 a0001c0011t0003 a0001c0011t0004 a0001c0018t0011 a0001c0024t0007 a0002c0003t0064 a0007c0023t0008	a0000c0004t0003g0207 a0000c0004t0003g0230 a0000c0004t0004g0154 others(142): Show a0000c0004t0003g0207 a0000c0004t0003g0230 a0000c0004t0004g0154 a0000c0004t0005g0152 a0000c0004t0007g0176 a0000c0004t0008g0076 a0000c0004t0008g0157 a0000c0004t0008g0158 a0000c0014t0004g0167 a0000c0022t0067g0310 a0001c0001t0002g0126 a0001c0001t0003g0001 a0001c0001t0003g0006 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0057 a0001c0001t0003g0128 a0001c0001t0003g0141 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0175 a0001c0001t0003g0178 a0001c0001t0003g0181 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0205 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0221 a0001c0001t0003g0226 a0001c0001t0003g0239 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0004g0013 a0001c0001t0004g0058 a0001c0001t0004g0071 a0001c0001t0004g0118 a0001c0001t0004g0119 a0001c0001t0004g0122 a0001c0001t0004g0124 a0001c0001t0004g0132 a0001c0001t0004g0140 a0001c0001t0004g0147 a0001c0001t0004g0151 a0001c0001t0004g0153 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0162 a0001c0001t0004g0164 a0001c0001t0004g0166 a0001c0001t0004g0169 a0001c0001t0004g0223 a0001c0001t0004g0225 a0001c0001t0004g0229 a0001c0001t0004g0231 a0001c0001t0004g0233 a0001c0001t0004g0240 a0001c0001t0004g0253 a0001c0001t0004g0304 a0001c0001t0004g0319 a0001c0001t0005g0069 a0001c0001t0005g0073 a0001c0001t0005g0074 a0001c0001t0005g0087 a0001c0001t0005g0129 a0001c0001t0005g0134 a0001c0001t0005g0142 a0001c0001t0005g0173 a0001c0001t0005g0177 a0001c0001t0005g0185 a0001c0001t0005g0200 a0001c0001t0005g0204 a0001c0001t0005g0206 a0001c0001t0005g0216 a0001c0001t0005g0220 a0001c0001t0005g0227 a0001c0001t0005g0228 a0001c0001t0005g0305 a0001c0001t0005g0306 a0001c0001t0005g0312 a0001c0001t0006g0068 a0001c0001t0006g0120 a0001c0001t0006g0174 a0001c0001t0006g0192 a0001c0001t0006g0236 a0001c0001t0006g0244 a0001c0001t0007g0180 a0001c0001t0007g0188 a0001c0001t0007g0189 a0001c0001t0007g0258 a0001c0001t0007g0311 a0001c0001t0008g0072 a0001c0001t0008g0144 a0001c0001t0008g0165 a0001c0001t0008g0222 a0001c0001t0008g0224 a0001c0001t0008g0337 a0001c0001t0009g0090 a0001c0001t0009g0121 a0001c0001t0009g0150 a0001c0001t0009g0155 a0001c0001t0009g0163 a0001c0001t0009g0232 a0001c0001t0009g0235 a0001c0001t0010g0199 a0001c0001t0010g0203 a0001c0001t0010g0209 a0001c0001t0011g0212 a0001c0001t0011g0257 a0001c0001t0011g0315 a0001c0001t0011g0318 a0001c0001t0013g0005 a0001c0001t0013g0125 a0001c0001t0013g0143 a0001c0001t0013g0149 a0001c0001t0015g0145 a0001c0001t0015g0179 a0001c0001t0015g0186 a0001c0001t0021g0307 a0001c0001t0045g0219 a0001c0001t0047g0123 a0001c0001t0048g0130 a0001c0001t0051g0322 a0001c0001t0052g0182 a0001c0001t0054g0161 a0001c0001t0055g0148 a0001c0001t0058g0077 a0001c0001t0085g0156 a0001c0011t0003g0139 a0001c0011t0004g0168 a0001c0011t0004g0170 a0001c0018t0011g0284 a0001c0024t0007g0187 a0002c0003t0064g0317 a0007c0023t0008g0336	155	410	0.3781	-47	c.-10 others(62): Show c.-10-843_-10-797delTGTCGTGCGTAGGGACCCTCCCGGTGCGTG GCACGGGTCGGCGGTGT	ZNF787	ENSG00000142409.6	transcript	ENST00000610935.2	protein_coding	1/2			chr19	TogoVar
ZNF816_chr19_52944385_52967881	52953555	TATAATAT others(40): Show TATAATATGTATTTATAAAATATAATATATAATACAATATTATATATA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0054 a0003c0003t0007g0054	1	442	0.0023	-47	c.64- others(60): Show c.64-725_64-679delTATATATAATATTGTATTATATATTATATTTT ATAAATACATATTAT	ZNF816	ENSG00000180257.14	transcript	ENST00000444460.7	protein_coding	2/3			chr19	TogoVar
ZNF85_chr19_20918251_20955697	20955568	TATTCCTG others(40): Show TATTCCTGCTGAAGTTAGTTTGTAACTTCAAGTCAGAGATGGAAAATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0049 a0002c0002t0003g0049	1	383	0.0026	-47	c.52 others(58): Show c.5267_*5313delATTCCTGCTGAAGTTAGTTTGTAACTTCAAGTCA GAGATGGAAAATA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4872		chr19	TogoVar
ZP4_chr1_237877404_237895922	237883627	AGGGGGAG others(40): Show AGGGGGAGGGGGAGGGCGGGGGAGGGCGGGGGAGGGCCGGGGGAGGGC	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01891.hp1 HG02055.hp1 others(3): Show HG01261.hp1 HG01891.hp1 HG02055.hp1 HG02970.hp2 HG03209.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0246 a0001c0001t0001g0253 a0001c0002t0001g0062 others(3): Show a0001c0001t0001g0246 a0001c0001t0001g0253 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0068	6	448	0.0134	-47	c.139 others(64): Show c.1391-828_1391-782delGCCCTCCCCCGGCCCTCCCCCGCCCTCC CCCGCCCTCCCCCTCCCCC	ZP4	ENSG00000116996.10	transcript	ENST00000366570.5	protein_coding	10/11			chr1	TogoVar
ZSWIM5_chr1_45011399_45211605	45044747	ATATATAT others(40): Show ATATATATATATATATATATATATATATAAATATATATATATAAATAT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20300.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0194 a0001c0009t0006g0195 a0001c0009t0006g0194 a0001c0009t0006g0195	2	234	0.0086	-47	c.143 others(66): Show c.1433-1399_1433-1353delATATTTATATATATATATTTATATAT ATATATATATATATATATATA	ZSWIM5	ENSG00000162415.7	transcript	ENST00000359600.6	protein_coding	5/13			chr1	TogoVar
ABCA1_chr9_104776006_104933155	104862666	GGCCGGGC others(39): Show GGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGCCCCCACCCCC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0005 a0005	a0005c0036 a0005c0036	a0005c0036t0001 a0005c0036t0001	a0005c0036t0001g0091 a0005c0036t0001g0091	1	318	0.0031	-46	c.422 others(61): Show c.422-912_422-867delGGGGGTGGGGGCCGGCCCGGCCCGGCCCGG CCCGGCCCGGCCCGGC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104874750	AGCCAGCC others(39): Show AGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGCAGCCCCCGCCCG	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG04199.hp1 HG02698.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0238 a0001c0001t0004g0193 a0001c0001t0001g0238 a0001c0001t0004g0193	2	318	0.0063	-46	c.421 others(63): Show c.421+8243_421+8288delCGGGCGGGGGCTGCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104874804	GCCCCGTC others(39): Show GCCCCGTCCGGGAGGGAGGTGGGGGCCAGCCCCCGCCCGGCCAGCCA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19091.hp1 HG02572.hp1 NA19091.hp1	a0003 a0022 a0003 a0022	a0003c0002 a0022c0050 a0003c0002 a0022c0050	a0003c0002t0002 a0022c0050t0001 a0003c0002t0002 a0022c0050t0001	a0003c0002t0002g0257 a0022c0050t0001g0166 a0003c0002t0002g0257 a0022c0050t0001g0166	2	318	0.0063	-46	c.421 others(63): Show c.421+8189_421+8234delTGGCTGGCCGGGCGGGGGCTGGCCCCCA CCTCCCTCCCGGACGGGG	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104874850	ACCCCGTC others(39): Show ACCCCGTCCGGGAGGGAGGTGGGGGGCAGCCCCCGCCCGGCCAGCCG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02257.hp2 HG02451.hp1 others(3): Show HG01255.hp2 HG02257.hp2 HG02451.hp1 HG02647.hp1 HG02965.hp2 HG03540.hp2	a0002 a0003 a0011 others(1): Show a0002 a0003 a0011 a0038	a0002c0017 a0002c0025 a0002c0032 others(3): Show a0002c0017 a0002c0025 a0002c0032 a0003c0056 a0011c0010 a0038c0068	a0002c0017t0026 a0002c0025t0015 a0002c0032t0001 others(3): Show a0002c0017t0026 a0002c0025t0015 a0002c0032t0001 a0003c0056t0001 a0011c0010t0005 a0038c0068t0044	a0002c0017t0026g0276 a0002c0025t0015g0283 a0002c0032t0001g0025 others(3): Show a0002c0017t0026g0276 a0002c0025t0015g0283 a0002c0032t0001g0025 a0003c0056t0001g0288 a0011c0010t0005g0097 a0038c0068t0044g0272	6	318	0.0189	-46	c.421 others(63): Show c.421+8143_421+8188delCGGCTGGCCGGGCGGGGGCTGCCCCCCA CCTCCCTCCCGGACGGGG	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCC4_chr13_95014835_95306451	95029199	TATATATA others(39): Show TATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0008 a0001c0011t0008	a0001c0011t0008g0244 a0001c0011t0008g0244	1	248	0.0040	-46	c.387 others(65): Show c.3870+5360_3870+5405delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTATATATATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC9_chr12_21792389_21946426	21863282	AAGTTTGG others(39): Show AAGTTTGGTTTTCTACACTGAAGAAGTGTTTTATGGTCTAAACAACT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(118): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03704.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18947.hp2 NA18952.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18977.hp2 NA18978.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18988.hp1 NA18992.hp2 NA19009.hp2 NA19043.hp1 NA19060.hp1 NA19063.hp2 NA19065.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0002c0007 a0003c0012 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0002t0001 a0001c0002t0004 a0001c0002t0012 a0001c0003t0007 a0001c0003t0009 a0001c0004t0001 a0001c0006t0001 a0001c0009t0001 a0002c0007t0001 a0003c0012t0001 a0004c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(117): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0002g0033 a0001c0001t0002g0078 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0202 a0001c0001t0002g0208 a0001c0001t0003g0095 a0001c0001t0003g0105 a0001c0001t0003g0141 a0001c0001t0003g0147 a0001c0001t0003g0158 a0001c0001t0004g0199 a0001c0001t0005g0175 a0001c0001t0006g0142 a0001c0001t0009g0129 a0001c0001t0014g0071 a0001c0001t0015g0170 a0001c0001t0017g0143 a0001c0001t0018g0003 a0001c0001t0019g0196 a0001c0001t0021g0122 a0001c0002t0001g0184 a0001c0002t0004g0183 a0001c0002t0012g0002 a0001c0003t0007g0180 a0001c0003t0007g0204 a0001c0003t0009g0209 a0001c0004t0001g0104 a0001c0004t0001g0119 a0001c0004t0001g0135 a0001c0006t0001g0042 a0001c0009t0001g0101 a0002c0007t0001g0039 a0002c0007t0001g0049 a0003c0012t0001g0195 a0004c0011t0001g0149	121	212	0.5708	-46	c.223 others(63): Show c.2238-274_2238-229delAGTTGTTTAGACCATAAAACACTTCTTC AGTGTAGAAAACCAAACT	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	19/39			chr12	TogoVar
ABCG1_chr21_42214140_42302244	42284871	ACAGCCTT others(39): Show ACAGCCTTCTGTTACCTCGTGGGATGTCTTCATGACATCAAACCCTG	A A	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	354	0.0028	-46	c.858 others(61): Show c.858+189_858+234delCAGCCTTCTGTTACCTCGTGGGATGTCTTC ATGACATCAAACCCTG	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	7/14			chr21	TogoVar
ABI2_chr2_203323394_203437169	203338926	GTGTATAT others(39): Show GTGTATATGTATATATATATATATATATATATATATAAATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00438.hp2 others(32): Show HG00280.hp1 HG00323.hp2 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG01256.hp1 HG01258.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG02080.hp2 HG02083.hp2 HG02698.hp2 HG03139.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp2 NA18945.hp1 NA18949.hp1 NA18961.hp2 NA18970.hp2 NA18982.hp2 NA18986.hp1 NA18993.hp2 NA18999.hp2 NA19057.hp2 NA19066.hp2 NA19077.hp2 NA19083.hp2 NA19084.hp1 NA19088.hp2 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 a0001c0001t0001 a0001c0001t0004 a0001c0001t0017	a0001c0001t0001g0201 a0001c0001t0001g0212 a0001c0001t0001g0213 others(32): Show a0001c0001t0001g0201 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0284 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0004g0217 a0001c0001t0017g0252	35	320	0.1094	-46	c.117 others(65): Show c.117+10297_117+10342delGTATATGTATATATATATATATATAT ATATATATAAATATATATAT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203338928	GTATATGT others(39): Show GTATATGTATATATATATATATATATATATATATAAATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04228.hp1 NA18995.hp2 HG04115.hp1 HG04228.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0298 a0001c0001t0001g0314 a0001c0001t0001g0278 a0001c0001t0001g0298 a0001c0001t0001g0314	3	320	0.0094	-46	c.117 others(65): Show c.117+10303_117+10348delGTATATATATATATATATATATATAT ATAAATATATATATATATAT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI3BP_chr3_100744156_100998421	100830102	CATACATA others(39): Show CATACATACATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0142 a0002c0002t0010g0142	1	238	0.0042	-46	c.245 others(63): Show c.2458+430_2459-439delATATATATATATATATATATATATATAT ATATATATATGTATGTAT	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	32/67			chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100830106	CATACATA others(39): Show CATACATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(18): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00642.hp1 HG01106.hp2 HG01192.hp2 HG01258.hp1 HG01346.hp2 HG01981.hp2 HG02004.hp2 HG02698.hp1 HG03669.hp1 HG03831.hp1 HG03942.hp2 HG04228.hp1 NA18947.hp1 NA18948.hp1 NA18962.hp2 NA18967.hp2 NA19081.hp1	a0004 a0006 a0026 others(2): Show a0004 a0006 a0026 a0028 a0030	a0004c0007 a0004c0015 a0004c0049 others(5): Show a0004c0007 a0004c0015 a0004c0049 a0006c0018 a0006c0025 a0026c0060 a0028c0063 a0030c0052	a0004c0007t0001 a0004c0007t0004 a0004c0007t0038 others(9): Show a0004c0007t0001 a0004c0007t0004 a0004c0007t0038 a0004c0015t0001 a0004c0049t0001 a0006c0018t0004 a0006c0018t0039 a0006c0025t0001 a0006c0025t0035 a0026c0060t0023 a0028c0063t0001 a0030c0052t0001	a0004c0007t0001g0073 a0004c0007t0001g0089 a0004c0007t0001g0094 others(18): Show a0004c0007t0001g0073 a0004c0007t0001g0089 a0004c0007t0001g0094 a0004c0007t0001g0108 a0004c0007t0001g0113 a0004c0007t0004g0182 a0004c0007t0004g0238 a0004c0007t0038g0236 a0004c0015t0001g0037 a0004c0015t0001g0043 a0004c0015t0001g0123 a0004c0015t0001g0126 a0004c0049t0001g0120 a0006c0018t0004g0213 a0006c0018t0004g0223 a0006c0018t0039g0200 a0006c0025t0001g0127 a0006c0025t0035g0190 a0026c0060t0023g0039 a0028c0063t0001g0020 a0030c0052t0001g0035	21	238	0.0882	-46	c.245 others(63): Show c.2458+426_2459-443delATATATATATATATATATATATATATAT ATATATATATATATGTAT	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	32/67			chr3	TogoVar
ABLIM1_chr10_114426112_114663275	114583444	CACACACA others(39): Show CACACACACACACACACACACACACATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03579.hp2 HG02976.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0004 a0001c0001t0023g0006 a0001c0001t0023g0004 a0001c0001t0023g0006	2	256	0.0078	-46	c.380 others(63): Show c.380-7891_380-7846delATATATATATATATATATATATGTGTGT GTGTGTGTGTGTGTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583446	CACACACA others(39): Show CACACACACACACACACACACACATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01517.hp2 HG00280.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0142 a0001c0001t0154 a0001c0001t0142 a0001c0001t0154	a0001c0001t0142g0108 a0001c0001t0154g0069 a0001c0001t0142g0108 a0001c0001t0154g0069	2	256	0.0078	-46	c.380 others(63): Show c.380-7893_380-7848delATATATATATATATATATATATATGTGT GTGTGTGTGTGTGTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583450	CACACACA others(39): Show CACACACACACACACACACATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0108 a0001c0001t0108	a0001c0001t0108g0174 a0001c0001t0108g0174	1	256	0.0039	-46	c.380 others(63): Show c.380-7897_380-7852delATATATATATATATATATATATATATAT GTGTGTGTGTGTGTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583452	CACACACA others(39): Show CACACACACACACACACATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0111 a0001c0001t0111	a0001c0001t0111g0150 a0001c0001t0111g0150	1	256	0.0039	-46	c.380 others(63): Show c.380-7899_380-7854delATATATATATATATATATATATATATAT ATGTGTGTGTGTGTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)