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 (≤).

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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
GALNS_chr16_88808734_88861947	88825044	G G	GCCTGGGT others(39): Show GCCTGGGTGTCCGGGGCTGGGGTGCCTGGGCGGCCGGGGCTGGAGCT	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18950.hp1 NA19005.hp2 others(2): Show HG02165.hp2 NA18950.hp1 NA19005.hp2 NA19083.hp1 NA19088.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0005 a0002c0010t0005	a0002c0010t0005g0005 a0002c0010t0005g0275 a0002c0010t0005g0385 others(1): Show a0002c0010t0005g0005 a0002c0010t0005g0275 a0002c0010t0005g0385 a0002c0010t0005g0386	5	404	0.0124	46	c.114 others(63): Show c.1140-176_1140-175insAGCTCCAGCCCCGGCCGCCCAGGCACCC CAGCCCCGGACACCCAGG	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	10/13			chr16	TogoVar
GALNT13_chr2_153866922_154458979	153884785	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0090 a0001c0001t0036g0090	1	214	0.0047	46	c.-17 others(67): Show c.-177+12483_-177+12484insATATATATATATATATATATATAT ATATATATATATATATATATGT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154269906	G G	GTATATAT others(39): Show GTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0030 a0001c0001t0008g0030	1	214	0.0047	46	c.975 others(65): Show c.975+10787_975+10788insATATATATATATATATATATATATAT ATATATATATATATATATAT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154269906	G G	GTATATAT others(39): Show GTATATATATATATATATATATTTATATATATGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02809.hp1 HG03225.hp2 others(4): Show HG02280.hp2 HG02809.hp1 HG03225.hp2 HG03540.hp2 HG03669.hp1 NA18947.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 a0001c0001t0019 a0001c0001t0020 a0001c0001t0076	a0001c0001t0001g0027 a0001c0001t0010g0205 a0001c0001t0012g0154 others(4): Show a0001c0001t0001g0027 a0001c0001t0010g0205 a0001c0001t0012g0154 a0001c0001t0019g0070 a0001c0001t0019g0074 a0001c0001t0020g0124 a0001c0001t0076g0075	7	214	0.0327	46	c.975 others(65): Show c.975+10787_975+10788insATTTATATATATGTGTATATATATAT ATATATATATATATATATAT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154269906	G G	GTATATAT others(39): Show GTATATATATATATATATATTTATATATATGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02602.hp1 HG02818.hp2 others(2): Show HG02135.hp1 HG02602.hp1 HG02818.hp2 HG03017.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0023 a0001c0001t0027 others(2): Show a0001c0001t0017 a0001c0001t0023 a0001c0001t0027 a0001c0001t0069 a0001c0001t0078	a0001c0001t0017g0157 a0001c0001t0023g0013 a0001c0001t0027g0014 others(2): Show a0001c0001t0017g0157 a0001c0001t0023g0013 a0001c0001t0027g0014 a0001c0001t0069g0171 a0001c0001t0078g0073	5	214	0.0234	46	c.975 others(65): Show c.975+10789_975+10790insATATATATGTGTATATATATATATAT ATATATATATATATATATTT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154269906	G G	GTGTATAT others(39): Show GTGTATATATATATATATATATTTATATATATGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0083 a0001c0001t0077g0083	1	214	0.0047	46	c.975 others(65): Show c.975+10769_975+10770insGTATATATATATATATATATTTATAT ATATGTGTATATATATATAT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298537	T T	TATTTATA others(39): Show TATTTATATATAAAATTGTATATATTTATATATAAATTGTATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01516.hp2 HG01884.hp1 others(1): Show HG00408.hp2 HG01516.hp2 HG01884.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0011 a0001c0001t0065 others(1): Show a0001c0001t0007 a0001c0001t0011 a0001c0001t0065 a0001c0001t0074	a0001c0001t0007g0192 a0001c0001t0011g0148 a0001c0001t0065g0060 others(1): Show a0001c0001t0007g0192 a0001c0001t0011g0148 a0001c0001t0065g0060 a0001c0001t0074g0071	4	214	0.0187	46	c.976 others(63): Show c.976-2859_976-2858insATTGTATATATTTATATATAAATTGTAT ATATAATTTATATATAAA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT17_chr7_71127144_71718599	71693309	C C	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0008 a0001c0001t0012g0008	1	76	0.0132	46	c.150 others(67): Show c.1500+16015_1500+16016insATATATATATATATATATATATAT ATATATATATATATATATATAT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT9_chr12_132191372_132334589	132192694	C C	CCCTCCCT others(39): Show CCCTCCCTCGTCCTCCTCCTGTGTCCTCCCTCGTCCTCCTCCTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0015 a0001c0007t0001g0015	1	183	0.0055	46	c.44 others(57): Show c.4412_*4413insACACAGGAGGAGGACGAGGGAGGACACAGGAGGA GGACGAGGGAGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding		3677		chr12	TogoVar
GALNT9_chr12_132191372_132334589	132210151	G G	GTGGGGGG others(39): Show GTGGGGGGGGCTTGGTGGTTGATCGGTGGTGGGTGTTGGTGGGGGTA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0003 a0003	a0003c0033 a0003c0033	a0003c0033t0001 a0003c0033t0001	a0003c0033t0001g0114 a0003c0033t0001g0114	1	183	0.0055	46	c.107 others(65): Show c.1078-6462_1078-6461insTACCCCCACCAACACCCACCACCGAT CAACCACCAAGCCCCCCCCA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132240942	A A	ACCCCCTT others(39): Show ACCCCCTTCCCGGGGCCCTCCCTATACCCATTTACACACACGCCACG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0015 a0001c0041t0015	a0001c0041t0015g0178 a0001c0041t0015g0178	1	183	0.0055	46	c.107 others(65): Show c.1077+6967_1077+6968insCGTGGCGTGTGTGTAAATGGGTATAG GGAGGGCCCCGGGAAGGGGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241221	C C	CCGGGGCC others(39): Show CCGGGGCCCTCCCTATACCCATTTACACACACGCCACGCCCCCTTCG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0066 a0001c0002t0005g0066	1	183	0.0055	46	c.107 others(65): Show c.1077+6688_1077+6689insCGAAGGGGGCGTGGCGTGTGTGTAAA TGGGTATAGGGAGGGCCCCG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241326	T T	TACCCATT others(39): Show TACCCATTTACACACACGCCACGCCCCCTTCCCGGGGCCCTCCCTAA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0097 a0001c0006t0001g0097	1	183	0.0055	46	c.107 others(65): Show c.1077+6583_1077+6584insTTAGGGAGGGCCCCGGGAAGGGGGCG TGGCGTGTGTGTAAATGGGT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241887	A A	ACACCCTT others(39): Show ACACCCTTCCCGGGGCCCTCCCTATACCCATTTACACACACGCCACG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01175.hp2 HG00733.hp1 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0017 a0001c0001t0001g0027	2	183	0.0109	46	c.107 others(65): Show c.1077+6022_1077+6023insCGTGGCGTGTGTGTAAATGGGTATAG GGAGGGCCCCGGGAAGGGTG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132242422	A A	ACCACACC others(39): Show ACCACACCGCCTTCCCGGGGCCGTCCCTATACCCATTTACACACACG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	183	0.0055	46	c.107 others(65): Show c.1077+5487_1077+5488insCGTGTGTGTAAATGGGTATAGGGACG GCCCCGGGAAGGCGGTGTGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132259957	A A	AACACCCT others(39): Show AACACCCTGAGCATTGTGGGTGCGGGGCCTGCCTGGGTGCGGGGAAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02723.hp2 HG02055.hp1 HG02109.hp2 HG02723.hp2	a0001 a0001	a0001c0017 a0001c0019 a0001c0017 a0001c0019	a0001c0017t0001 a0001c0019t0003 a0001c0017t0001 a0001c0019t0003	a0001c0017t0001g0049 a0001c0017t0001g0148 a0001c0019t0003g0077 a0001c0017t0001g0049 a0001c0017t0001g0148 a0001c0019t0003g0077	3	183	0.0164	46	c.761 others(61): Show c.761+990_761+991insGTTCCCCGCACCCAGGCAGGCCCCGCACCC ACAATGCTCAGGGTGT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	4/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132260025	C C	CGGGGCCT others(39): Show CGGGGCCTGCCTGGGTGCGGGGAACACACCCTGAGCATTGTGGGCAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03486.hp1 HG02895.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0026 a0001c0001 a0001c0026	a0001c0001t0001 a0001c0026t0014 a0001c0001t0001 a0001c0026t0014	a0001c0001t0001g0149 a0001c0026t0014g0052 a0001c0001t0001g0149 a0001c0026t0014g0052	2	183	0.0109	46	c.761 others(61): Show c.761+922_761+923insATGCCCACAATGCTCAGGGTGTGTTCCCCG CACCCAGGCAGGCCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	4/10			chr12	TogoVar
GALNTL6_chr4_171808404_173046559	172177774	C C	CATATATA others(39): Show CATATATACACATGTGTATATATATACACACACATATATGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	40	0.0250	46	c.139 others(65): Show c.139-51870_139-51825dupTGTGTATATATATACACACACATATA TGTGTGTGTATATATACACA	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172177774	C C	CATATGTA others(39): Show CATATGTACACATGTGTATATATATACACACACATATATGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	40	0.0250	46	c.139 others(65): Show c.139-51878_139-51877insGTACACATGTGTATATATATACACAC ACATATATGTGTGTGTATAT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172606619	G G	GTATATAT others(39): Show GTATATATATACTATATATATACTATATATATAGTATATATATACTA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	40	0.0250	46	c.554 others(67): Show c.554-202720_554-202675dupCTATATATATAGTATATATATACT ATATATATATACTATATATATA	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GAPVD1_chr9_125256826_125372207	125293864	A A	AAATATAT others(39): Show AAATATATTTTATATATATATATATATATATATATATAAATATATTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	340	0.0029	46	c.-14 others(65): Show c.-149-1594_-149-1593insAATATATTTTATATATATATATATAT ATATATATATAAATATATTT	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	2/27			chr9	TogoVar
GAPVD1_chr9_125256826_125372207	125293864	A A	AAATATAT others(39): Show AAATATATTTTATATATATATATATATATATATATATATAAATATAT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	340	0.0029	46	c.-14 others(65): Show c.-149-1594_-149-1593insAATATATTTTATATATATATATATAT ATATATATATATAAATATAT	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	2/27			chr9	TogoVar
GARNL3_chr9_127259774_127398660	127391533	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0127 a0004c0007t0001g0127	1	300	0.0033	46	c.287 others(63): Show c.2870+767_2870+768insAAAAAAAAAAAAAAAAAAAAAAAAAAAA TATATATATATATATATA	GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GARNL3_chr9_127259774_127398660	127391533	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	300	0.0033	46	c.287 others(63): Show c.2870+767_2870+768insAAAAAAAAAAAAAAAATATATATATATA TATATATATATATATATA	GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GASK1A_chr3_42974311_43062715	43014071	A A	ACTGTGTG others(39): Show ACTGTGTGAAGCCACAGGAAGGGGCAGTAGGAAGTCACAGGAAGGGG	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18906.hp1 NA20129.hp2 HG03540.hp1 NA18906.hp1 NA20129.hp2	a0002 a0010 a0015 a0002 a0010 a0015	a0002c0006 a0010c0024 a0015c0026 a0002c0006 a0010c0024 a0015c0026	a0002c0006t0002 a0010c0024t0002 a0015c0026t0011 a0002c0006t0002 a0010c0024t0002 a0015c0026t0011	a0002c0006t0002g0164 a0010c0024t0002g0238 a0015c0026t0011g0311 a0002c0006t0002g0164 a0010c0024t0002g0238 a0015c0026t0011g0311	3	342	0.0088	46	c.4-1 others(61): Show c.4-18172_4-18127dupCAGTAGGAAGTCACAGGAAGGGGCTGTGTG AAGCCACAGGAAGGGG	GASK1A	ENSG00000144649.10	transcript	ENST00000430121.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
GASK1A_chr3_42974311_43062715	43015235	T T	TCACAGGA others(39): Show TCACAGGAAGGAGCAGTGCGAATTCTCAGGAAGGGGCTGTGGGAAGC	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	342	0.0029	46	c.4-1 others(61): Show c.4-17021_4-16976dupAGCAGTGCGAATTCTCAGGAAGGGGCTGTG GGAAGCCACAGGAAGG	GASK1A	ENSG00000144649.10	transcript	ENST00000430121.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(39): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTCCTTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	382	0.0026	46	c.-13 others(57): Show c.-1398_-1397insGAGGAAGGAAGAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA6_chr18_22164589_22207528	22204288	C C	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0070 a0003c0003t0002g0071 a0003c0003t0002g0070 a0003c0003t0002g0071	2	286	0.0070	46	c.34 others(57): Show c.3465_*3466insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	GATA6	ENSG00000141448.11	transcript	ENST00000269216.10	protein_coding		1761		chr18	TogoVar
GATB_chr4_151665504_151766007	151697949	G G	GTATATAT others(39): Show GTATATATATATATATATGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG03516.hp2 others(1): Show HG02055.hp1 HG02145.hp1 HG03516.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0091 a0001c0001t0001g0130 a0001c0001t0001g0177 others(1): Show a0001c0001t0001g0091 a0001c0001t0001g0130 a0001c0001t0001g0177 a0002c0002t0001g0045	4	320	0.0125	46	c.119 others(65): Show c.1197+3379_1197+3380insTATATATATATATATATATATATATA CACATATATATATATATATA	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	9/12			chr4	TogoVar
GCNT2_chr6_10516351_10634368	10569235	C C	CCACACAC others(39): Show CCACACACACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0296 a0001c0001t0002g0296	1	324	0.0031	46	c.925 others(65): Show c.925+39438_925+39439insACACACACACACACACACACACACAC ACACACACACACACACACAC	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10569235	C C	CCACACAC others(39): Show CCACACACACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	344	0.0029	46	c.919 others(65): Show c.919+11932_919+11933insACACACACACACACACACACACACAC ACACACACACACACACACAC	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT3_chr15_59606783_59627723	59610997	T T	TCCCCCTC others(39): Show TCCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCTCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	428	0.0023	46	c.-12 others(57): Show c.-1235_-1234insCCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCC CTCCCCTCCCCT	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		785		chr15	TogoVar
GDA_chr9_72144440_72257224	72198846	G G	GATATATA others(39): Show GATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	312	0.0032	46	c.212 others(63): Show c.212+3273_212+3274insTATATATATATATATATATATATATATA TATATATATATATATATA	GDA	ENSG00000119125.17	transcript	ENST00000358399.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
GFRA2_chr8_21685398_21793875	21694075	T T	TTATATAT others(39): Show TTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0271 a0002c0002t0003g0271	1	322	0.0031	46	c.127 others(63): Show c.1272+388_1272+389insTATATATATATATATATATATATATATA TATATATATATATATATA	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	8/8			chr8	TogoVar
GGT1_chr22_24598193_24633996	24605023	C C	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0407 a0001c0001t0002g0407	1	426	0.0024	46	c.-42 others(65): Show c.-429+1509_-429+1510insTATATATATATATATATATATATATA TATATATATATATATATATA	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GHR_chr5_42418439_42726878	42474295	G G	GAGAAAGA others(39): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0009 a0003c0006t0009	a0003c0006t0009g0097 a0003c0006t0009g0097	1	210	0.0048	46	c.-12 others(65): Show c.-12+50371_-12+50372insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GJB2_chr13_20182470_20197938	20183973	A A	AGGTTGGT others(39): Show AGGTTGGTTTGTGCAGAATTGCCTTGTATGTAAGTTCTGGTAGATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	420	0.0024	46	c.49 others(57): Show c.4927_*4928insACATCTACCAGAACTTACATACAAGGCAATTCTG CACAAACCAACC	GJB2	ENSG00000165474.8	transcript	ENST00000382848.5	protein_coding		3496		chr13	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGAAAG others(39): Show GAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	394	0.0025	46	c.76- others(61): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTTTCTTTCTTTCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGGAAG others(39): Show GAAGGAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	394	0.0025	46	c.76- others(61): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTT TCTTTCTTTCTTCCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGGAAG others(39): Show GAAGGAAGGAAGGAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG04199.hp2 HG03490.hp1 HG03492.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0123 a0001c0001t0001g0140 a0001c0001t0001g0146	3	394	0.0076	46	c.76- others(61): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTTTCTTTCTT TCTTCCTTCCTTCCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074408	G G	GAAAGAAA others(39): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG02895.hp1 others(3): Show HG01069.hp2 HG01071.hp2 HG02895.hp1 HG02897.hp2 HG03239.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0035 others(3): Show a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0047	6	394	0.0152	46	c.76- others(61): Show c.76-1696_76-1695insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLDC_chr9_6527467_6650729	6622960	T T	TCCGCCCG others(39): Show TCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGTCAGCCCC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01981.hp2 HG02109.hp1 others(22): Show HG01978.hp1 HG01981.hp2 HG02109.hp1 HG02135.hp1 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02559.hp2 HG02622.hp2 HG02647.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02976.hp1 HG03195.hp2 HG03453.hp2 HG03540.hp1 HG03579.hp2 NA18944.hp1 NA18954.hp1 NA18964.hp1 NA18978.hp1 NA19030.hp1 NA19060.hp1 NA19064.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0013 a0002c0006 a0002c0010 a0003c0012	a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 others(10): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0002t0001 a0001c0002t0008 a0001c0002t0020 a0001c0002t0023 a0001c0005t0010 a0001c0005t0014 a0001c0013t0005 a0002c0006t0026 a0002c0010t0001 a0003c0012t0001	a0001c0001t0004g0284 a0001c0001t0008g0317 a0001c0001t0010g0330 others(22): Show a0001c0001t0004g0284 a0001c0001t0008g0317 a0001c0001t0010g0330 a0001c0001t0010g0336 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0032 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0078 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0008g0019 a0001c0002t0020g0018 a0001c0002t0023g0077 a0001c0005t0010g0333 a0001c0005t0014g0332 a0001c0013t0005g0322 a0002c0006t0026g0340 a0002c0010t0001g0051 a0003c0012t0001g0087 a0003c0012t0001g0088 a0003c0012t0001g0089	25	342	0.0731	46	c.335 others(63): Show c.335-2642_335-2641insGGGGCTGACCCCCACCTCCCTCCCGGAC GGGGTGGCTGCCGGGCGG	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar
GLDC_chr9_6527467_6650729	6629939	A A	ATATGTAT others(39): Show ATATGTATATATATATATATGTATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0198 a0002c0006t0002g0198	1	342	0.0029	46	c.335 others(63): Show c.335-9621_335-9620insCATATATATATATATATATATATATACA TATATATATATATACATA	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar
GLRA1_chr5_151817513_151929851	151849452	T T	TTTCCTTT others(39): Show TTTCCTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 NA18954.hp2 others(1): Show HG01168.hp1 HG01169.hp1 NA18954.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0080 others(1): Show a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0080 a0001c0001t0001g0095	4	284	0.0141	46	c.912 others(63): Show c.912+1937_912+1938insGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAAGGAAAGGAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849452	T T	TTTCCTTT others(39): Show TTTCCTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01943.hp2 HG02602.hp1 others(13): Show HG00609.hp2 HG01943.hp2 HG02602.hp1 HG03942.hp2 NA18939.hp1 NA18941.hp2 NA18963.hp2 NA18969.hp2 NA18983.hp2 NA18990.hp1 NA18991.hp1 NA18999.hp2 NA19062.hp2 NA19075.hp1 NA19085.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(13): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0111	16	284	0.0563	46	c.912 others(63): Show c.912+1937_912+1938insGGAAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAAGGAAAGGAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849452	T T	TTTCCTTT others(39): Show TTTCCTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	284	0.0035	46	c.912 others(63): Show c.912+1937_912+1938insGGAAGGAAGGGAGGGAGGGAGGGAGGGA GGGAGGGAAGGAAAGGAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849456	C C	CTTTCCTT others(39): Show CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00423.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0044 a0001c0001t0002g0255 a0001c0001t0001g0044 a0001c0001t0002g0255	2	284	0.0070	46	c.912 others(63): Show c.912+1933_912+1934insAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLYR1_chr16_4798203_4852288	4804933	C C	CTGTGTGT others(39): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0207 a0001c0001t0024g0207	1	352	0.0028	46	c.30 others(55): Show c.302_*303insCACACACACACACACACACACACACACACACACACA CACACACACA	GLYR1	ENSG00000140632.17	transcript	ENST00000321919.14	protein_coding	16/16	302		chr16	TogoVar
GMDS_chr6_1618806_2250605	1652698	T T	TATAATAT others(39): Show TATAATATATATTATTTATATATAATATATATAATATATATTATTTA	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	166	0.0060	46	c.988 others(65): Show c.988-28159_988-28158insTAAATAATATATATTATATATATTAT ATATAAATAATATATATTAT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	9/10			chr6	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATATATTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01257.hp1 HG01975.hp2 HG01257.hp1 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0333 a0001c0001t0032g0350 a0001c0001t0032g0333 a0001c0001t0032g0350	2	366	0.0055	46	c.56 others(57): Show c.5654_*5655insAAAATATATATATATATATATATATATATATATA TATATATATATA	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13	5654		chr15	TogoVar

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