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
GLRA2_chrX_14524536_14736812	14681910	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01433.hp1 HG01516.hp1 others(3): Show HG01123.hp1 HG01433.hp1 HG01516.hp1 HG02015.hp1 HG02602.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0007 a0001c0002t0011 others(1): Show a0001c0002t0005 a0001c0002t0007 a0001c0002t0011 a0001c0002t0037	a0001c0002t0005g0010 a0001c0002t0005g0213 a0001c0002t0007g0114 others(3): Show a0001c0002t0005g0010 a0001c0002t0005g0213 a0001c0002t0007g0114 a0001c0002t0007g0210 a0001c0002t0011g0086 a0001c0002t0037g0028	6	232	0.0259	31	c.931 others(48): Show c.931-8799_931-8798insAAAAAAATATATATATATATATATATAT ATA	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLRA2_chrX_14524536_14736812	14681910	A A	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01256.hp1 HG01261.hp1 others(2): Show HG00280.hp1 HG01256.hp1 HG01261.hp1 HG02257.hp2 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0007 a0001c0002t0036 a0001c0002t0005 a0001c0002t0007 a0001c0002t0036	a0001c0002t0005g0056 a0001c0002t0005g0205 a0001c0002t0005g0214 others(2): Show a0001c0002t0005g0056 a0001c0002t0005g0205 a0001c0002t0005g0214 a0001c0002t0007g0209 a0001c0002t0036g0063	5	232	0.0216	31	c.931 others(48): Show c.931-8799_931-8798insAAAAATATATATATATATATATATATAT ATA	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLT1D1_chr12_128848478_128989968	128956171	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01069.hp1 HG01516.hp2 others(7): Show HG00323.hp2 HG01069.hp1 HG01516.hp2 HG02071.hp2 HG02129.hp1 HG03490.hp2 HG03927.hp1 NA18941.hp2 NA18973.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0032 a0001c0001t0001g0098 a0001c0001t0001g0101 others(7): Show a0001c0001t0001g0032 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0183 a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0275 a0001c0001t0001g0301 a0001c0002t0001g0047 a0001c0002t0001g0119	10	320	0.0313	31	c.781 others(48): Show c.781-1373_781-1372insAAAAAAAAAAAAAAAAAAAAAAAAAAAG AGA	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLTPD2_chr17_4783964_4795589	4794036	G G	GTTGTCTT others(24): Show GTTGTCTTTTTTCATCTGTTACTCGGTTTCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	460	0.0022	31	c.37 others(42): Show c.3740_*3741insTTGTCTTTTTTCATCTGTTACTCGGTTTCGC	GLTPD2	ENSG00000182327.8	transcript	ENST00000331264.8	protein_coding		3448		chr17	TogoVar
GLYATL2_chr11_58829065_58849704	58841186	C C	CCTAGAAA others(24): Show CCTAGAAAACTCAGTAAATATGACATCTATGT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0087 a0002c0002t0002g0087	1	380	0.0026	31	c.-40 others(48): Show c.-40-1565_-40-1535dupACATAGATGTCATATTTACTGAGTTTTC TAG	GLYATL2	ENSG00000156689.7	transcript	ENST00000287275.6	protein_coding	1/5			chr11	TogoVar
GLYAT_chr11_58703757_58736943	58728887	A A	AAGAGAAA others(24): Show AAGAGAAAGATAAGAAAGAAGAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	364	0.0028	31	c.-16 others(48): Show c.-16+2947_-16+2948insCTTTCTTTCTTCTTCTTTCTTATCTTTC TCT	GLYAT	ENSG00000149124.11	transcript	ENST00000344743.8	protein_coding	1/5			chr11	TogoVar
GMCL2_chr5_178179505_178192371	178187475	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01167.hp2 HG01516.hp2 others(4): Show HG00323.hp2 HG01167.hp2 HG01516.hp2 HG03239.hp2 HG03471.hp2 HG03490.hp1 NA20129.hp2	a0002 a0010 a0002 a0010	a0002c0002 a0010c0010 a0002c0002 a0010c0010	a0002c0002t0002 a0010c0010t0002 a0002c0002t0002 a0010c0010t0002	a0002c0002t0002g0000 a0010c0010t0002g0000 a0002c0002t0002g0000 a0010c0010t0002g0000	7	452	0.0155	31	c.-17 others(40): Show c.-177_-176insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GMCL2	ENSG00000244234.3	transcript	ENST00000463439.3	protein_coding		105		chr5	TogoVar
GMDS_chr6_1618806_2250605	1897923	A A	ACCCTTGC others(24): Show ACCCTTGCCATCCTGGACACCTATCCTGGCCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02258.hp1 HG02280.hp1 others(16): Show HG00140.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02559.hp2 HG02615.hp1 HG02717.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03710.hp1 HG03834.hp1 HG06807.hp1 NA18612.hp2 NA19010.hp2 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0018 a0001c0001t0001g0035 a0001c0001t0001g0039 others(16): Show a0001c0001t0001g0018 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0146 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0004g0104 a0001c0002t0001g0028 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0054 a0001c0002t0001g0086 a0001c0002t0001g0094 a0001c0002t0001g0164	19	166	0.1145	31	c.771 others(50): Show c.771+32179_771+32180insAGGCCAGGATAGGTGTCCAGGATGGC AAGGG	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1897988	C C	CTTGCCAT others(24): Show CTTGCCATCCTGGACACCTATCCTGGCCTCCG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	166	0.0060	31	c.771 others(50): Show c.771+32114_771+32115insCGGAGGCCAGGATAGGTGTCCAGGAT GGCAA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1898078	T T	TCCCTTGC others(24): Show TCCCTTGCCATCCTGGACACCTATCCTGGCCA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	166	0.0060	31	c.771 others(50): Show c.771+32024_771+32025insTGGCCAGGATAGGTGTCCAGGATGGC AAGGG	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1898109	T T	TCCGTTGC others(24): Show TCCGTTGCCATCCTGGACACCTATCCTGGCCA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	166	0.0060	31	c.771 others(50): Show c.771+31993_771+31994insTGGCCAGGATAGGTGTCCAGGATGGC AACGG	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1898140	T T	TCCCTTGC others(24): Show TCCCTTGCCATCCTGGACACCTATCCTGGCCA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	166	0.0060	31	c.771 others(50): Show c.771+31962_771+31963insTGGCCAGGATAGGTGTCCAGGATGGC AAGGG	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1999998	A A	ATATATAT others(24): Show ATATATATATTATATATATAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA18612.hp2 HG00140.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0106 a0001c0002t0001g0047 a0001c0001t0001g0106 a0001c0002t0001g0047	2	166	0.0121	31	c.346 others(50): Show c.346-39033_346-39032insATATATATATATTATATATATAATAT ATATA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1999998	A A	ATATATAT others(24): Show ATATATATTATATATATATATTATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	166	0.0060	31	c.346 others(50): Show c.346-39033_346-39032insATATATATATAATATATATATATAAT ATATA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2052116	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA19003.hp1 HG03540.hp1 NA19003.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0137 a0001c0002t0002g0050 a0001c0002t0001g0137 a0001c0002t0002g0050	2	166	0.0121	31	c.345 others(50): Show c.345+63654_345+63655insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2059707	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1 NA18983.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0148 a0001c0001t0001g0157 a0001c0002t0001g0132 a0001c0001t0001g0148 a0001c0001t0001g0157 a0001c0002t0001g0132	3	166	0.0181	31	c.345 others(50): Show c.345+56063_345+56064insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GNA15_chr19_3131033_3168749	3140044	A A	AAAAATCT others(24): Show AAAAATCTATCTATCTATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0361 a0001c0002t0001g0361	1	450	0.0022	31	c.145 others(48): Show c.145+3450_145+3451insAAATCTATCTATCTATCTATCTATCTAT CTA	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNA15_chr19_3131033_3168749	3140044	A A	AAAAATCT others(24): Show AAAAATCTATCTATCTATCTATCTATCTATGT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01515.hp1 HG01496.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0356 a0001c0001t0005g0357 a0001c0001t0005g0356 a0001c0001t0005g0357	2	450	0.0044	31	c.145 others(48): Show c.145+3450_145+3451insAAATCTATCTATCTATCTATCTATCTAT GTA	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNA15_chr19_3131033_3168749	3145359	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	450	0.0022	31	c.146 others(48): Show c.146-3231_146-3230insATATATATATATATATATATATATATAT ATT	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNAL_chr18_11684264_11890685	11788914	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	248	0.0040	31	c.624 others(50): Show c.624+34970_624+34971insAAAAAAAAATATATATATATATATAT ATATA	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11747085_11890685	11788914	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0068	1	284	0.0035	31	c.393 others(50): Show c.393+34970_393+34971insAAAAAAAAATATATATATATATATAT ATATA	GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAQ_chr9_77711097_78036811	78023920	A A	AACACACA others(24): Show AACACACACATATTGTATATGTGTGTATATAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG01169.hp1 others(4): Show HG00099.hp2 HG00140.hp1 HG01169.hp1 HG01358.hp1 HG02698.hp1 HG03490.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0068 a0001c0001t0001 a0001c0001t0068	a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 others(4): Show a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0068g0171	7	282	0.0248	31	c.136 others(48): Show c.136+7149_136+7179dupGTATATACACACATATACAATATGTGTG TGT	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	1/6			chr9	TogoVar
GNB1_chr1_1780286_1896087	1864314	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA19005.hp2 NA18993.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0280 a0001c0001t0001g0241 a0001c0001t0001g0280	2	336	0.0060	31	c.-95 others(50): Show c.-95-25077_-95-25076insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	GNB1	ENSG00000078369.19	transcript	ENST00000378609.9	protein_coding	1/11			chr1	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(24): Show ATATATATATATATATATATATATTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0100 a0001c0005t0100	a0001c0005t0100g0134 a0001c0005t0100g0134	1	366	0.0027	31	c.56 others(42): Show c.5654_*5655insAAAAAAAAATATATATATATATATATATATA	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13	5654		chr15	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0039 a0002c0007t0039	a0002c0007t0039g0150 a0002c0007t0039g0150	1	366	0.0027	31	c.56 others(42): Show c.5654_*5655insAAAAAAAAAAATATATATATATATATATATA	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13	5654		chr15	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATTT others(24): Show ATATATTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0157 a0001c0001t0070g0157	1	366	0.0027	31	c.56 others(42): Show c.5654_*5655insAAAAAAAAAAAAAAAAAAAAAAAAAAATATA	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13	5654		chr15	TogoVar
GNB5_chr15_52110100_52196392	52136172	A A	ACACACAC others(24): Show ACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	366	0.0027	31	c.628 others(46): Show c.628-417_628-416insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT G	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	7/12			chr15	TogoVar
GNG2_chr14_51855612_51974795	51942589	C C	CTTTCTTT others(24): Show CTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	380	0.0026	31	c.-29 others(48): Show c.-29-8058_-29-8057insCTTTCTTTCTTTCTTTCTTTTTTTTTTT TTT	GNG2	ENSG00000186469.9	transcript	ENST00000556766.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr14	TogoVar
GNG7_chr19_2506219_2707694	2655859	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0007 a0001c0001t0087g0007	1	206	0.0049	31	c.-13 others(50): Show c.-134-9580_-134-9579insATATATATATATATATATATATATTT TTTTT	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	1/4			chr19	TogoVar
GNG8_chr19_46628953_46641202	46635799	T T	TGGGAGAG others(24): Show TGGGAGAGGATGGAGGAGATGGACGGATGGGG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	438	0.0023	31	c.-44 others(46): Show c.-44+347_-44+348insCCCCATCCGTCCATCTCCTCCATCCTCTCC C	GNG8	ENSG00000167414.5	transcript	ENST00000693335.1	protein_coding	1/2			chr19	TogoVar
GNPTAB_chr12_101740499_101835959	101830711	T T	TGAGCCGC others(24): Show TGAGCCGCCGCCGCCGCCGCCGCCGCCTCAGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00558.hp1 NA18984.hp1 HG00558.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0132 a0001c0001t0012g0133 a0001c0001t0012g0132 a0001c0001t0012g0133	2	392	0.0051	31	c.-67 others(38): Show c.-67_-37dupGCTGAGGCGGCGGCGGCGGCGGCGGCGGCTC	GNPTAB	ENSG00000111670.16	transcript	ENST00000299314.12	protein_coding	1/21	37		chr12	TogoVar
GNPTAB_chr12_101740499_101835959	101833180	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18970.hp1 NA19056.hp2 others(1): Show NA18962.hp2 NA18970.hp1 NA19056.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0003 a0001c0001t0004 a0001c0003t0003	a0001c0001t0004g0384 a0001c0001t0004g0385 a0001c0001t0004g0386 others(1): Show a0001c0001t0004g0384 a0001c0001t0004g0385 a0001c0001t0004g0386 a0001c0003t0003g0136	4	392	0.0102	31	c.-25 others(42): Show c.-2506_-2505insATATATATATATATATATATATATATATATA	GNPTAB	ENSG00000111670.16	transcript	ENST00000299314.12	protein_coding		2222		chr12	TogoVar
GNPTAB_chr12_101740499_101835959	101833182	A A	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0263 a0001c0001t0004g0263	1	392	0.0026	31	c.-25 others(42): Show c.-2508_-2507insATATATATATATATATATATATATATATTTT	GNPTAB	ENSG00000111670.16	transcript	ENST00000299314.12	protein_coding		2224		chr12	TogoVar
GNPTAB_chr12_101740499_101835959	101833182	A A	AAATATAT others(24): Show AAATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0270 a0001c0008t0004g0270	1	392	0.0026	31	c.-25 others(42): Show c.-2508_-2507insATATATATATATATATATATATATATATATT	GNPTAB	ENSG00000111670.16	transcript	ENST00000299314.12	protein_coding		2224		chr12	TogoVar
GNPTAB_chr12_101740499_101835959	101833182	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 NA18955.hp1 NA18956.hp1 others(2): Show HG02132.hp1 NA18955.hp1 NA18956.hp1 NA18973.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0025 a0001c0003t0003 a0001c0001t0004 a0001c0001t0025 a0001c0003t0003	a0001c0001t0004g0245 a0001c0001t0004g0249 a0001c0001t0004g0268 others(2): Show a0001c0001t0004g0245 a0001c0001t0004g0249 a0001c0001t0004g0268 a0001c0001t0025g0258 a0001c0003t0003g0148	5	392	0.0128	31	c.-25 others(42): Show c.-2508_-2507insATATATATATATATATATATATATATATATA	GNPTAB	ENSG00000111670.16	transcript	ENST00000299314.12	protein_coding		2224		chr12	TogoVar
GNRH1_chr8_25414258_25429261	25420383	C C	CAGCCTGG others(24): Show CAGCCTGGCAACAGAGCGAGACTCCGTCTCAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(173): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03491.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18956.hp2 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18966.hp2 NA18969.hp1 NA18975.hp1 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA18998.hp2 NA19001.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19030.hp1 NA19054.hp2 NA19058.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp2 NA19083.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0005 a0001c0001 a0001c0004 a0004c0005	a0001c0001t0001 a0001c0004t0001 a0004c0005t0001 a0001c0001t0001 a0001c0004t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0004t0001g0016 a0004c0005t0001g0032	176	398	0.4422	31	c.238 others(46): Show c.238-924_238-923insTTGAGACGGAGTCTCGCTCTGTTGCCAGGC T	GNRH1	ENSG00000147437.10	transcript	ENST00000421054.7	protein_coding	3/3			chr8	TogoVar
GOLGA3_chr12_132763914_132833869	132783510	G G	GGGGCGCC others(24): Show GGGGCGCCGGGAAGCAGGAGGGCTGGGGAGGC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02896.hp1 HG02818.hp2 HG02896.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0078 a0009c0015t0080 a0009c0015t0078 a0009c0015t0080	a0009c0015t0078g0066 a0009c0015t0080g0065 a0009c0015t0078g0066 a0009c0015t0080g0065	2	308	0.0065	31	c.326 others(48): Show c.3267+653_3267+654insGCCTCCCCAGCCCTCCTGCTTCCCGGCG CCC	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	16/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132783515	C C	CCGGGAAG others(24): Show CCGGGAAGCAGGAGGGCTGGGGAGGCGGGGAG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0128 a0001c0001t0075g0128	1	308	0.0033	31	c.326 others(48): Show c.3267+648_3267+649insCTCCCCGCCTCCCCAGCCCTCCTGCTTC CCG	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	16/23			chr12	TogoVar
GOLGA8J_chr15_30077955_30101690	30099943	C C	CCAACCAA others(24): Show CCAACCAACTTGTCTTCCAAGTCGTCTTCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01261.hp1 HG02630.hp2 others(5): Show HG01243.hp2 HG01261.hp1 HG02630.hp2 HG02897.hp2 HG02976.hp1 HG03098.hp2 HG03239.hp2 NA18971.hp1	a0013 a0021 a0030 others(2): Show a0013 a0021 a0030 a0045 a0055	a0013c0011 a0021c0021 a0030c0057 others(2): Show a0013c0011 a0021c0021 a0030c0057 a0045c0053 a0055c0028	a0013c0011t0009 a0021c0021t0018 a0030c0057t0009 others(2): Show a0013c0011t0009 a0021c0021t0018 a0030c0057t0009 a0045c0053t0019 a0055c0028t0019	a0013c0011t0009g0034 a0013c0011t0009g0047 a0021c0021t0018g0183 others(4): Show a0013c0011t0009g0034 a0013c0011t0009g0047 a0021c0021t0018g0183 a0021c0021t0018g0184 a0030c0057t0009g0125 a0045c0053t0019g0149 a0055c0028t0019g0081	8	345	0.0232	31	c.64 others(42): Show c.6444_*6445insCAACCAACTTGTCTTCCAAGTCGTCTTCCAA	GOLGA8J	ENSG00000179938.13	transcript	ENST00000567927.2	protein_coding		3254		chr15	TogoVar
GPAT3_chr4_83531108_83610875	83562214	T T	TATATATA others(24): Show TATATATATAATATATATATAATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	334	0.0030	31	c.208 others(50): Show c.208+17621_208+17622insATATATATATAATATATATATAATAT ATATA	GPAT3	ENSG00000138678.11	transcript	ENST00000264409.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GPAT3_chr4_83531108_83610875	83562214	T T	TATATATA others(24): Show TATATATATAATATATATATATTATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03540.hp1 NA19030.hp2 HG02258.hp1 HG03540.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0014 a0001c0001t0005g0005 a0001c0001t0005g0006 a0001c0001t0003g0014 a0001c0001t0005g0005 a0001c0001t0005g0006	3	334	0.0090	31	c.208 others(50): Show c.208+17621_208+17622insATATATATATATTATATATATAATAT ATATA	GPAT3	ENSG00000138678.11	transcript	ENST00000264409.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GPATCH1_chr19_33076181_33135542	33123054	A A	AAAGCGAG others(24): Show AAAGCGAGATGCTGTCTCAAAAATAAATAAAT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0124 a0003c0004t0001g0124	1	380	0.0026	31	c.252 others(50): Show c.2522-2048_2522-2018dupGCGAGATGCTGTCTCAAAAATAAATA AATAA	GPATCH1	ENSG00000076650.7	transcript	ENST00000170564.7	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
GPATCH2_chr1_217421992_217636090	217584344	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	188	0.0053	31	c.109 others(52): Show c.1098+25976_1098+25977insATATATATATATATATATTTTTTT TTTTTTT	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
GPATCH2_chr1_217421992_217636090	217584344	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	188	0.0053	31	c.109 others(52): Show c.1098+25976_1098+25977insATATATATATATATATATATTTTT TTTTTTT	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
GPATCH8_chr17_44390281_44508406	44483176	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	326	0.0031	31	c.46- others(46): Show c.46-8274_46-8273insATATATTTTTTTTTTTTTTTTTTTTTTTTT T	GPATCH8	ENSG00000186566.13	transcript	ENST00000591680.6	protein_coding	1/7			chr17	TogoVar
GPATCH8_chr17_44390281_44508406	44483176	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02615.hp2 HG00738.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0019 a0001c0002t0001g0277 a0001c0001t0003g0019 a0001c0002t0001g0277	2	326	0.0061	31	c.46- others(46): Show c.46-8274_46-8273insATATATATATATATATTTTTTTTTTTTTTT T	GPATCH8	ENSG00000186566.13	transcript	ENST00000591680.6	protein_coding	1/7			chr17	TogoVar
GPBP1_chr5_57169059_57269673	57229230	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0214 a0001c0001t0003g0214	1	290	0.0035	31	c.64- others(46): Show c.64-1609_64-1579dupAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPC4_chrX_133295103_133420489	133404546	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02615.hp1 HG02055.hp1 HG02615.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0017 a0001c0001t0005 a0002c0002t0017	a0001c0001t0005g0015 a0002c0002t0017g0016 a0001c0001t0005g0015 a0002c0002t0017g0016	2	221	0.0091	31	c.160 others(50): Show c.160+10259_160+10260insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	GPC4	ENSG00000076716.9	transcript	ENST00000370828.4	protein_coding	1/8			chrX	TogoVar
GPC5_chr13_91393621_92872237	91571904	T T	TACGTGTG others(24): Show TACGTGTGTGTATATATACACACATATACGTG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0013 a0001c0001t0001g0023	2	42	0.0476	31	c.326 others(52): Show c.326-121283_326-121282insACGTGTGTGTATATATACACACAT ATACGTG	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	2/7			chr13	TogoVar
GPC5_chr13_91393621_92872237	91621761	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	42	0.0238	31	c.326 others(50): Show c.326-71426_326-71425insATATATATATATATATATATATATAT ATATA	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	2/7			chr13	TogoVar

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