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
GALNT5_chr2_157252705_157323491	157290112	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0093 a0001c0002t0034g0093	1	282	0.0036	36	c.174 others(55): Show c.1741+3979_1741+3980insTATATATATATATATATATATATATA TACACACACA	GALNT5	ENSG00000136542.9	transcript	ENST00000259056.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNTL6_chr4_171808404_173046559	172156549	A A	ATATATAT others(29): Show ATATATATATATATATATAGTATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	40	0.0250	36	c.139 others(55): Show c.139-73089_139-73088insGTATATATATATATATAGTATATATA TATATATATA	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172546784	T T	TTATATAT others(29): Show TTATATATATATACGTATATATACGTATATATACGTA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02735.hp1 HG02015.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0029 a0001c0001t0001g0040	2	40	0.0500	36	c.553 others(57): Show c.553+198127_553+198128insCGTATATATATATATACGTATATA TACGTATATATA	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172745446	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	40	0.0250	36	c.554 others(55): Show c.554-63914_554-63913insTATATATATATATATATATATATATA TATACACACA	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALR1_chr18_77244848_77282900	77281062	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG01516.hp1 others(1): Show HG00423.hp1 HG00558.hp2 HG01516.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0019 a0001c0001t0034 others(1): Show a0001c0001t0005 a0001c0001t0019 a0001c0001t0034 a0001c0002t0029	a0001c0001t0005g0316 a0001c0001t0019g0232 a0001c0001t0034g0106 others(1): Show a0001c0001t0005g0316 a0001c0001t0019g0232 a0001c0001t0034g0106 a0001c0002t0029g0195	4	366	0.0109	36	c.12 others(49): Show c.12160_*12161insATATATATATATATATATATATATATATATAT ATAT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		3163		chr18	TogoVar
GALR1_chr18_77244848_77282900	77281090	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0028 a0001c0001t0044g0028	1	366	0.0027	36	c.12 others(49): Show c.12188_*12189insATATATATATATATATATATATATATATATAT ATAA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		3191		chr18	TogoVar
GAP43_chr3_115618510_115726483	115698050	T T	TAATATAT others(29): Show TAATATATATAATATATAAAATATATATTATATATAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19030.hp1 HG02055.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0315 a0001c0001t0001g0036 a0001c0001t0001g0315	2	352	0.0057	36	c.628 others(55): Show c.628+21440_628+21441insAATATATATAATATATAAAATATATA TTATATATAA	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2			chr3	TogoVar
GAPVD1_chr9_125256826_125372207	125293858	A A	ATATATAA others(29): Show ATATATAAATATATTTTATATATATATAAATATATTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA18985.hp2 NA19010.hp2 others(1): Show HG01255.hp1 NA18985.hp2 NA19010.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0292 others(1): Show a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0292 a0001c0001t0001g0294	4	340	0.0118	36	c.-14 others(55): Show c.-149-1594_-149-1593insAATATATTTTATATATATATAAATAT ATTTTATATA	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GAREM1_chr18_32258522_32475882	32471918	G G	GCTTGCTT others(29): Show GCTTGCTTGCTTGCTTGCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02615.hp1 HG03688.hp2 HG02145.hp1 HG02615.hp1 HG03688.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0018 a0003c0016 a0001c0003 a0001c0018 a0003c0016	a0001c0003t0003 a0001c0018t0002 a0003c0016t0002 a0001c0003t0003 a0001c0018t0002 a0003c0016t0002	a0001c0003t0003g0178 a0001c0018t0002g0004 a0003c0016t0002g0124 a0001c0003t0003g0178 a0001c0018t0002g0004 a0003c0016t0002g0124	3	192	0.0156	36	c.-14 others(47): Show c.-1491_-1490insAAAGAAAGAAAGAAAGAAAGCAAGCAAGCAAGCA AG	GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding		1037		chr18	TogoVar
GAREM1_chr18_32258522_32475882	32471918	G G	GCTTGCTT others(29): Show GCTTGCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0035 a0001c0009t0001g0035	1	192	0.0052	36	c.-14 others(47): Show c.-1491_-1490insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGCA AG	GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding		1037		chr18	TogoVar
GAREM2_chr2_26168088_26194663	26178883	G G	GGGAGGCG others(29): Show GGGAGGCGGAGGCGGAGGCGGAGGCGGAGGCGGAGGC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02132.hp2 HG02015.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0082 a0001c0001t0001g0055 a0001c0001t0001g0082	2	306	0.0065	36	c.253 others(53): Show c.253+2404_253+2405insCGGAGGCGGAGGCGGAGGCGGAGGCGGA GGCGGAGG	GAREM2	ENSG00000157833.13	transcript	ENST00000401533.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
GAREM2_chr2_26168088_26194663	26178889	A A	AGGAGGCG others(29): Show AGGAGGCGGAGGCGGAGGCGGAGGCGGAGGCGGAGGC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02886.hp1 HG02486.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0040 a0001c0001t0001g0044	2	306	0.0065	36	c.253 others(53): Show c.253+2423_253+2424insGGAGGCGGAGGCGGAGGCGGAGGCGGAG GCGGAGGC	GAREM2	ENSG00000157833.13	transcript	ENST00000401533.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
GARIN2_chr14_67184440_67228940	67212615	G G	GTAATATA others(29): Show GTAATATATATTATATATAATATATATTACATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0108 a0001c0007t0001g0108	1	332	0.0030	36	c.116 others(55): Show c.1160+4169_1160+4204dupATATATATTATATATAATATATATTA CATATATATA	GARIN2	ENSG00000172717.17	transcript	ENST00000696955.1	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
GARIN5B_chr19_55349908_55368260	55360146	C C	CCAGGAGT others(29): Show CCAGGAGTCCAGGCCCCAGCTCCTCCTCCCTCAGACT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03225.hp2 NA19030.hp2 HG03041.hp1 HG03225.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0099 a0001c0001t0001g0131 a0001c0001t0002g0132 a0001c0001t0001g0099 a0001c0001t0001g0131 a0001c0001t0002g0132	3	356	0.0084	36	c.889 others(51): Show c.889-168_889-167insAGTCTGAGGGAGGAGGAGCTGGGGCCTGGA CTCCTG	GARIN5B	ENSG00000180043.11	transcript	ENST00000424985.3	protein_coding	8/10			chr19	TogoVar
GARIN5B_chr19_55349908_55368260	55360293	C C	CAGGAGTC others(29): Show CAGGAGTCCAGGCCCCAGTCTCTCCTCCCTCAGACTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02572.hp1 HG02886.hp2 others(4): Show HG01891.hp2 HG02572.hp1 HG02886.hp2 HG02896.hp2 HG03540.hp2 NA18522.hp2 NA20129.hp2	a0008 a0026 a0008 a0026	a0008c0009 a0026c0020 a0008c0009 a0026c0020	a0008c0009t0004 a0008c0009t0008 a0026c0020t0007 a0008c0009t0004 a0008c0009t0008 a0026c0020t0007	a0008c0009t0004g0012 a0008c0009t0004g0137 a0008c0009t0008g0136 others(1): Show a0008c0009t0004g0012 a0008c0009t0004g0137 a0008c0009t0008g0136 a0026c0020t0007g0135	7	356	0.0197	36	c.889 others(51): Show c.889-315_889-314insCAGTCTGAGGGAGGAGAGACTGGGGCCTGG ACTCCT	GARIN5B	ENSG00000180043.11	transcript	ENST00000424985.3	protein_coding	8/10			chr19	TogoVar
GARIN5B_chr19_55349908_55368260	55360569	C C	CCTCCTCC others(29): Show CCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCAGCCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp2 HG02280.hp2 others(3): Show HG00323.hp1 HG00741.hp2 HG02280.hp2 HG02572.hp2 HG02602.hp1 HG03710.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0002 a0009c0008t0003 a0009c0008t0002 a0009c0008t0003	a0009c0008t0002g0029 a0009c0008t0002g0030 a0009c0008t0003g0097 others(1): Show a0009c0008t0002g0029 a0009c0008t0002g0030 a0009c0008t0003g0097 a0009c0008t0003g0098	6	356	0.0169	36	c.888 others(50): Show c.888+88_888+123dupAGGCTGGGACCTGGACTCCTGGGTCTGAGGG AGGAG	GARIN5B	ENSG00000180043.11	transcript	ENST00000424985.3	protein_coding	8/10			chr19	TogoVar
GARNL3_chr9_127259774_127398660	127391533	A A	AAAAAGAA others(29): Show AAAAAGAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02809.hp1 HG02630.hp2 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0214 a0001c0002t0001g0288 a0001c0002t0001g0214 a0001c0002t0001g0288	2	300	0.0067	36	c.287 others(53): Show c.2870+767_2870+768insAAAGAATATATATATATATATATATATA TATATATA	GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GARRE1_chr19_34249554_34360566	34307648	C C	CATACTTA others(29): Show CATACTTATATATACATATATACTTATATATACATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0012 a0003c0007t0012	a0003c0007t0012g0320 a0003c0007t0012g0320	1	326	0.0031	36	c.495 others(53): Show c.495+6712_495+6747dupCATATATACTTATATATACATATATACT TATATATA	GARRE1	ENSG00000166398.14	transcript	ENST00000299505.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
GAS2_chr11_22661611_22818001	22789423	G G	GATATATA others(29): Show GATATATATAAATATATATATATATAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00673.hp1 others(8): Show HG00140.hp1 HG00140.hp2 HG00673.hp1 HG01358.hp1 HG01952.hp1 HG01978.hp2 HG02015.hp2 HG02895.hp1 NA18969.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0009	a0001c0001t0001g0144 a0001c0001t0001g0170 a0001c0001t0002g0035 others(8): Show a0001c0001t0001g0144 a0001c0001t0001g0170 a0001c0001t0002g0035 a0001c0001t0002g0193 a0001c0001t0003g0136 a0001c0001t0004g0053 a0001c0002t0001g0254 a0001c0002t0002g0224 a0001c0002t0003g0031 a0001c0002t0004g0219 a0001c0002t0009g0241	11	272	0.0404	36	c.724 others(55): Show c.724-22374_724-22373insTATATATAAATATATATATATATAAA TATATATATA	GAS2	ENSG00000148935.12	transcript	ENST00000454584.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
GAS6_chr13_113815549_113869076	113836384	G G	GGGAGGGG others(29): Show GGGAGGGGGAGGAGGGGGAGGAGGAGGAGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	143	0.0070	36	c.590 others(51): Show c.590-750_590-749insTCCTCCCCCTCCTCCTCCTCCCCCTCCTCC CCCTCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	6/14			chr13	TogoVar
GAS8_chr16_90017680_90049960	90029189	T T	TGGGGCAG others(29): Show TGGGGCAGCCTATGGGGCAGCCTACGGGGCAGGCTGC	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA19043.hp2 HG03486.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0139 a0001c0002t0012g0141 a0001c0002t0012g0139 a0001c0002t0012g0141	2	390	0.0051	36	c.90+ others(51): Show c.90+1478_90+1479insTGGGGCAGCCTACGGGGCAGGCTGCGGGGC AGCCTA	GAS8	ENSG00000141013.17	transcript	ENST00000268699.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
GATA5_chr20_62458497_62480995	62471432	A A	ATTTTTTT others(29): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA18944.hp1 NA19065.hp2 others(1): Show HG02738.hp1 NA18944.hp1 NA19065.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0024 a0001c0002t0001 a0001c0002t0002 a0001c0002t0024	a0001c0002t0001g0133 a0001c0002t0001g0280 a0001c0002t0002g0287 others(1): Show a0001c0002t0001g0133 a0001c0002t0001g0280 a0001c0002t0002g0287 a0001c0002t0024g0109	4	382	0.0105	36	c.699 others(53): Show c.699+1970_699+1971insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding	3/6			chr20	TogoVar
GATA5_chr20_62458497_62480995	62476885	T T	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG01099.hp2 NA19060.hp2 HG00558.hp1 HG01099.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0002 a0001c0003t0006 a0001c0007t0040 a0001c0001t0002 a0001c0003t0006 a0001c0007t0040	a0001c0001t0002g0012 a0001c0003t0006g0077 a0001c0007t0040g0151 a0001c0001t0002g0012 a0001c0003t0006g0077 a0001c0007t0040g0151	3	382	0.0079	36	c.-97 others(45): Show c.-978_-977insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		891		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477098	C C	CTTCCTTC others(29): Show CTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0239 a0002c0005t0002g0239	1	382	0.0026	36	c.-11 others(47): Show c.-1191_-1190insAGAAAGAAAGAAGGAAGGAAGGAAAGAAGGAAGG AA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1104		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477098	C C	CTTCCTTC others(29): Show CTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0262 a0002c0006t0001g0262	1	382	0.0026	36	c.-11 others(47): Show c.-1191_-1190insAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGG AA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1104		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477241	C C	CCTTTCTT others(29): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0114 a0001c0002t0002g0114	1	382	0.0026	36	c.-13 others(47): Show c.-1334_-1333insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1247		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477245	C C	CCTTTCTT others(29): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 NA19012.hp2 NA19088.hp2 HG02683.hp1 NA19012.hp2 NA19088.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0027 a0001c0001 a0001c0002 a0008c0027	a0001c0001t0001 a0001c0002t0001 a0008c0027t0001 a0001c0001t0001 a0001c0002t0001 a0008c0027t0001	a0001c0001t0001g0003 a0001c0002t0001g0007 a0008c0027t0001g0057 a0001c0001t0001g0003 a0001c0002t0001g0007 a0008c0027t0001g0057	3	382	0.0079	36	c.-13 others(47): Show c.-1338_-1337insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1251		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477253	C C	CCTTCCTT others(29): Show CCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0200 a0001c0003t0003g0200	1	382	0.0026	36	c.-13 others(47): Show c.-1346_-1345insAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGA AG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1259		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477303	T T	TTTCTTTC others(29): Show TTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0007 a0001c0019t0007	a0001c0019t0007g0284 a0001c0019t0007g0284	1	382	0.0026	36	c.-13 others(47): Show c.-1396_-1395insGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAG AA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1309		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477303	T T	TTTCTTTC others(29): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCGTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0136 a0001c0002t0001g0136	1	382	0.0026	36	c.-13 others(47): Show c.-1396_-1395insGGAACGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1309		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477303	T T	TTTCTTTC others(29): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 NA18950.hp2 NA19063.hp2 HG02293.hp1 NA18950.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0106 a0001c0002t0002g0108 a0001c0002t0002g0132 a0001c0002t0001g0106 a0001c0002t0002g0108 a0001c0002t0002g0132	3	382	0.0079	36	c.-13 others(47): Show c.-1396_-1395insGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1309		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(29): Show TCTTTCTTTCTTTCTTTCCTCCCTCCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01109.hp1 HG01070.hp2 HG01109.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0018 a0002c0006t0002 a0002c0006t0018	a0002c0006t0002g0233 a0002c0006t0018g0253 a0002c0006t0002g0233 a0002c0006t0018g0253	2	382	0.0052	36	c.-13 others(47): Show c.-1398_-1397insGAGGGAGGGAGGGAGGGAGGAAAGAAAGAAAGAA AG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(29): Show TCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG03942.hp1 NA18970.hp1 HG01943.hp1 HG03942.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0004t0007 a0001c0001t0001 a0001c0002t0002 a0001c0004t0007	a0001c0001t0001g0003 a0001c0002t0002g0139 a0001c0004t0007g0275 a0001c0001t0001g0003 a0001c0002t0002g0139 a0001c0004t0007g0275	3	382	0.0079	36	c.-13 others(47): Show c.-1398_-1397insGAGGGAGGAAGGAAGGAAAGAAAGAAAGAAAGAA AG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(29): Show TCTTTCTTTCTTTCTTTCTTTCTTCCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0190 a0001c0004t0007g0190	1	382	0.0026	36	c.-13 others(47): Show c.-1398_-1397insGAGGGAGGGAGGGAAGAAAGAAAGAAAGAAAGAA AG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(29): Show TCTTTCTTTCTTTCTTTCTTTCTTTCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	382	0.0026	36	c.-13 others(47): Show c.-1398_-1397insGAGGGAGGGAGGAAAGAAAGAAAGAAAGAAAGAA AG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(29): Show TCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG03834.hp2 NA19005.hp2 HG01361.hp2 HG03834.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0088 a0001c0001t0002g0073 a0001c0002t0001g0098 a0001c0001t0001g0088 a0001c0001t0002g0073 a0001c0002t0001g0098	3	382	0.0079	36	c.-13 others(47): Show c.-1398_-1397insGAGGGAGGAAGGAAAGAAAGAAAGAAAGAAAGAA AG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(29): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00438.hp1 NA18942.hp2 HG00323.hp2 HG00438.hp1 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0162 a0001c0001t0001g0185 a0001c0001t0020g0071 a0001c0001t0001g0162 a0001c0001t0001g0185 a0001c0001t0020g0071	3	382	0.0079	36	c.-13 others(47): Show c.-1398_-1397insGAGGGAGGAAAGAAAGAAAGAAAGAAAGAAAGAA AG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(29): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0020 a0001c0012t0001g0020	1	382	0.0026	36	c.-13 others(47): Show c.-1398_-1397insGAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAA AG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477305	T T	TCTTTCTT others(29): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG02080.hp1 NA18983.hp2 others(4): Show HG00558.hp1 HG02080.hp1 NA18983.hp2 NA19010.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0006	a0001c0001t0001g0003 a0001c0001t0002g0012 a0001c0001t0004g0002 others(3): Show a0001c0001t0001g0003 a0001c0001t0002g0012 a0001c0001t0004g0002 a0001c0002t0006g0112 a0001c0002t0006g0121 a0001c0002t0006g0125	7	382	0.0183	36	c.-13 others(47): Show c.-1398_-1397insGAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1311		chr20	TogoVar
GATA6_chr18_22164589_22207528	22204288	C C	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01071.hp2 HG01496.hp2 others(8): Show HG00323.hp2 HG01071.hp2 HG01496.hp2 HG01952.hp1 HG02258.hp1 HG02615.hp2 HG02683.hp1 HG02723.hp2 HG02976.hp1 HG03471.hp2 NA19057.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0147 a0001c0001t0002g0003 a0001c0001t0002g0013 others(8): Show a0001c0001t0001g0147 a0001c0001t0002g0003 a0001c0001t0002g0013 a0001c0001t0002g0050 a0001c0001t0002g0094 a0001c0001t0002g0160 a0001c0001t0002g0227 a0001c0001t0002g0233 a0001c0001t0002g0255 a0001c0001t0002g0256 a0002c0002t0002g0064	11	286	0.0385	36	c.34 others(47): Show c.3465_*3466insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TT	GATA6	ENSG00000141448.11	transcript	ENST00000269216.10	protein_coding		1761		chr18	TogoVar
GATAD2B_chr1_153799725_153927972	153839108	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0189 a0001c0001t0014g0189	1	349	0.0029	36	c.-1- others(53): Show c.-1-10761_-1-10760insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	GATAD2B	ENSG00000143614.11	transcript	ENST00000368655.5	protein_coding	1/10			chr1	TogoVar
GATB_chr4_151665504_151766007	151697965	A A	ATGTGTGT others(29): Show ATGTGTGTATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02109.hp1 others(11): Show HG01243.hp1 HG01891.hp2 HG02109.hp1 HG02145.hp2 HG02602.hp1 HG02738.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp2 HG03942.hp2 NA18953.hp2 NA18994.hp2 NA19060.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0079 a0001c0001t0001g0080 others(11): Show a0001c0001t0001g0054 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0164 a0001c0001t0001g0173 a0001c0001t0001g0183	14	320	0.0438	36	c.119 others(55): Show c.1197+3363_1197+3364insCATATATATATATATATATATATATA TATACACACA	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	9/12			chr4	TogoVar
GATB_chr4_151665504_151766007	151697965	A A	ATGTGTGT others(29): Show ATGTGTGTATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	320	0.0031	36	c.119 others(55): Show c.1197+3363_1197+3364insCACATATATATATATATATATATATA TATACACACA	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	9/12			chr4	TogoVar
GATB_chr4_151665504_151766007	151735734	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18948.hp1 NA18990.hp2 NA18939.hp1 NA18948.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0064 a0001c0001t0001g0172 a0001c0003t0001g0161 a0001c0001t0001g0064 a0001c0001t0001g0172 a0001c0003t0001g0161	3	320	0.0094	36	c.328 others(55): Show c.328-16197_328-16196insTATATATATATATATATATATATATA TATATATATA	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	2/12			chr4	TogoVar
GBE1_chr3_81484703_81766645	81750611	A A	ATATGTAT others(29): Show ATATGTATATGTATATATATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0123 a0002c0002t0001g0123	1	304	0.0033	36	c.143 others(55): Show c.143+10763_143+10764insCATATATATATACATATATATATATA CATATACATA	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	1/15			chr3	TogoVar
GCGR_chr17_81799150_81819008	81809726	T T	TCTGTCTG others(29): Show TCTGTCTGCCTGCCTGTCTGCCTGTCTGTCTGCCTGC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03139.hp1 NA19043.hp2 HG02723.hp1 HG03139.hp1 NA19043.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0014 a0004c0008 a0001c0001 a0001c0014 a0004c0008	a0001c0001t0001 a0001c0014t0001 a0004c0008t0001 a0001c0001t0001 a0001c0014t0001 a0004c0008t0001	a0001c0001t0001g0111 a0001c0014t0001g0115 a0004c0008t0001g0110 a0001c0001t0001g0111 a0001c0014t0001g0115 a0004c0008t0001g0110	3	408	0.0074	36	c.61- others(47): Show c.61-37_61-36insCCTGTCTGTCTGCCTGCCTGTCTGCCTGCCTGTC TG	GCGR	ENSG00000215644.10	transcript	ENST00000400723.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
GCGR_chr17_81799150_81819008	81814589	C C	CACGCCAG others(29): Show CACGCCAGTCCTCGTGCCACACAGAGAGGTCCGGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(5): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00738.hp1 HG01099.hp1 HG01123.hp1 HG06807.hp2 NA20805.hp2	a0001 a0001	a0001c0004 a0001c0016 a0001c0004 a0001c0016	a0001c0004t0001 a0001c0016t0001 a0001c0004t0001 a0001c0016t0001	a0001c0004t0001g0001 a0001c0004t0001g0002 a0001c0004t0001g0011 others(3): Show a0001c0004t0001g0001 a0001c0004t0001g0002 a0001c0004t0001g0011 a0001c0004t0001g0055 a0001c0004t0001g0059 a0001c0016t0001g0064	8	408	0.0196	36	c.90 others(45): Show c.900_*901insACGCCAGTCCTCGTGCCACACAGAGAGGTCCGGCCT	GCGR	ENSG00000215644.10	transcript	ENST00000400723.8	protein_coding		582		chr17	TogoVar
GCK_chr7_44139275_44194439	44174915	T T	TCTTCTTC others(29): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	392	0.0026	36	c.45+ others(53): Show c.45+13993_45+13994insGAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAG	GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding	1/9			chr7	TogoVar
GCNT2_chr6_10516351_10634368	10569235	C C	CCACACAC others(29): Show CCACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02280.hp1 HG03098.hp2 others(6): Show HG02155.hp2 HG02280.hp1 HG03098.hp2 NA18747.hp1 NA18955.hp1 NA18973.hp1 NA18983.hp1 NA18993.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0072 others(6): Show a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0121 a0001c0001t0001g0133 a0001c0001t0001g0178 a0001c0001t0002g0080 a0001c0001t0002g0083	9	324	0.0278	36	c.925 others(55): Show c.925+39403_925+39438dupACACACACACACACACACACACACAC ACACACACAC	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10582231	T T	TTTAAATA others(29): Show TTTAAATATATAAAATATATATAATATATACTATATA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	324	0.0031	36	c.926 others(55): Show c.926-39106_926-39071dupATATATATAATATATACTATATATTA AATATATAAA	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar

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