JoGo: Joint Open Genome and Omics Platform

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
TERT_chr5_1248167_1300068	1272573	C C	CCACACAT others(31): Show CCACACATCAGACCCCACGACCGCCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01123.hp1 HG01928.hp2 others(11): Show HG01109.hp1 HG01123.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG02602.hp2 HG03704.hp1 HG03710.hp1 NA18945.hp1 NA18961.hp2 NA18969.hp1 NA18977.hp2 NA19009.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0001t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0251 a0001c0001t0001g0269 a0001c0001t0001g0282 others(10): Show a0001c0001t0001g0251 a0001c0001t0001g0269 a0001c0001t0001g0282 a0001c0003t0001g0005 a0001c0003t0001g0238 a0001c0003t0001g0268 a0001c0003t0001g0271 a0001c0003t0001g0280 a0001c0003t0001g0284 a0001c0003t0001g0289 a0001c0003t0001g0290 a0001c0003t0001g0296 a0001c0004t0001g0054	14	392	0.0357	38	c.228 others(55): Show c.2287-294_2287-293insTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272607	C C	CCACACAT others(31): Show CCACACATCAGACCCCACGACCGCCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	2	392	0.0051	38	c.228 others(55): Show c.2287-328_2287-327insTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272607	C C	CCACACAT others(31): Show CCACACATCAGACCCCACGATCGCCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03130.hp2 HG02109.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0131 a0001c0001t0001g0132	2	392	0.0051	38	c.228 others(55): Show c.2287-328_2287-327insTGGTGACTGTGGATGGCGATCGTGGGGT CTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272785	C C	CCACACAT others(31): Show CCACACATCAGACCCCACGACCGCCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18971.hp2 NA18964.hp1 NA18971.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0299 a0001c0003t0001g0306 a0001c0003t0001g0299 a0001c0003t0001g0306	2	392	0.0051	38	c.228 others(55): Show c.2287-506_2287-505insTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272957	C C	CCACAGTC others(31): Show CCACAGTCACCACACATCAGACCCCACGACCGCCATCCA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	392	0.0026	38	c.228 others(55): Show c.2287-678_2287-677insTGGATGGCGGTCGTGGGGTCTGATGTGT GGTGACTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273154	C C	CCACACAT others(31): Show CCACACATCAGACCCCACGACCGCCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	392	0.0026	38	c.228 others(55): Show c.2287-875_2287-874insTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273296	C C	CCACACAT others(31): Show CCACACATCAGACCCCACGACCACCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0338	1	392	0.0026	38	c.228 others(57): Show c.2287-1017_2287-1016insTGGTGACTGTGGATGGTGGTCGTGGG GTCTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273296	C C	CCACACAT others(31): Show CCACACATCAGACCCCACGACCGCCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0310 a0001c0001t0002g0310	1	392	0.0026	38	c.228 others(57): Show c.2287-1017_2287-1016insTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273699	C C	CCACACAT others(31): Show CCACACATCAGACCCCACGACCACCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	392	0.0026	38	c.228 others(57): Show c.2287-1420_2287-1419insTGGTGACTGTGGATGGTGGTCGTGGG GTCTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273733	C C	CCACACAT others(31): Show CCACACATCAGACCCCACGACCGCCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	392	0.0026	38	c.228 others(57): Show c.2287-1454_2287-1453insTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1276321	G G	GAAAACCA others(31): Show GAAAACCAATCCCACAGATCCCCACCTACCCCACACATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18948.hp1 NA18955.hp2 others(2): Show HG00621.hp2 NA18948.hp1 NA18955.hp2 NA19000.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0361 a0001c0006t0001g0212 a0001c0006t0001g0214 others(2): Show a0001c0001t0001g0361 a0001c0006t0001g0212 a0001c0006t0001g0214 a0001c0006t0001g0217 a0001c0006t0001g0218	5	392	0.0128	38	c.228 others(57): Show c.2286+2319_2286+2320insTATGTGTGGGGTAGGTGGGGATCTGT GGGATTGGTTTT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TESK2_chr1_45338883_45496163	45486818	C C	CACACACA others(31): Show CACACACACACACACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0284 a0001c0001t0009g0284	1	286	0.0035	38	c.-87 others(55): Show c.-87+4033_-87+4034insATGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	TESK2	ENSG00000070759.17	transcript	ENST00000372086.4	protein_coding	1/10			chr1	TogoVar
TES_chr7_116205539_116263783	116229033	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0110	1	386	0.0026	38	c.28- others(53): Show c.28-5500_28-5499insTATATATATATATATATATATATATATATA TATATAAA	TES	ENSG00000135269.18	transcript	ENST00000358204.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
TET1_chr10_68555337_68699487	68624660	C C	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0014 a0003c0009t0014	a0003c0009t0014g0278 a0003c0009t0014g0278	1	282	0.0036	38	c.196 others(59): Show c.1969-20037_1969-20036insTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	TET1	ENSG00000138336.9	transcript	ENST00000373644.5	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
TEX26_chr13_30927656_30980500	30974131	A A	AAAATATA others(31): Show AAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA19072.hp2 HG04204.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0248 a0001c0002t0001g0224 a0001c0001t0001g0248 a0001c0002t0001g0224	2	414	0.0048	38	c.809 others(53): Show c.809-714_809-713insAATATATATATATATATATATATATATATA TATATATA	TEX26	ENSG00000175664.10	transcript	ENST00000380473.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
TEX29_chr13_111315642_111349248	111339535	T T	TTCCATGC others(31): Show TTCCATGCACTCCCGGGGGTCAGGACCCAGTGCCGTCTC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	416	0.0024	38	c.170 others(53): Show c.170-304_170-267dupACCCAGTGCCGTCTCTCCATGCACTCCCGG GGGTCAGG	TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TEX50_chr1_173630338_173642130	173630642	G G	GACCAGCT others(31): Show GACCAGCTCCTGAGGTCAGGAGACCAAAGCGGGCGATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01516.hp2 HG01517.hp2 HG01261.hp1 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	3	404	0.0074	38	c.-48 others(49): Show c.-4880_-4879insACCAGCTCCTGAGGTCAGGAGACCAAAGCGGGCG ATCA	TEX50	ENSG00000232113.3	transcript	ENST00000417563.3	protein_coding		4695		chr1	TogoVar
TFDP2_chr3_141939428_142154544	141977091	T T	TAGATAGA others(31): Show TAGATAGATAGATAGATAGATAGATAGATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02735.hp2 NA18612.hp2 others(2): Show HG00544.hp1 HG02735.hp2 NA18612.hp2 NA18952.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0040 a0001c0001t0043 others(2): Show a0001c0001t0014 a0001c0001t0040 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046	a0001c0001t0014g0021 a0001c0001t0040g0023 a0001c0001t0043g0018 others(2): Show a0001c0001t0014g0021 a0001c0001t0040g0023 a0001c0001t0043g0018 a0001c0001t0045g0019 a0001c0001t0046g0015	5	252	0.0198	38	c.519 others(55): Show c.519+1428_519+1429insCTATCTATCTATCTATCTATCTATCTAT CTATCTATCT	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	7/12			chr3	TogoVar
TFDP2_chr3_141939428_142154544	142085340	A A	ATATCTAT others(31): Show ATATCTATATCAAATATAGATATAGATATATCAAATTTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02055.hp1 HG02559.hp2 others(6): Show HG01496.hp2 HG02055.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02976.hp2 HG03098.hp1 HG03209.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0028 a0001c0001t0071 others(5): Show a0001c0001t0009 a0001c0001t0028 a0001c0001t0071 a0001c0001t0075 a0001c0001t0090 a0001c0001t0095 a0001c0001t0101 a0001c0001t0115	a0001c0001t0009g0065 a0001c0001t0028g0063 a0001c0001t0028g0075 others(6): Show a0001c0001t0009g0065 a0001c0001t0028g0063 a0001c0001t0028g0075 a0001c0001t0071g0062 a0001c0001t0075g0067 a0001c0001t0090g0068 a0001c0001t0095g0066 a0001c0001t0101g0069 a0001c0001t0115g0064	9	252	0.0357	38	c.82+ others(53): Show c.82+7720_82+7721insCAAATTTGATATATCTATATCTATATTTGA TATAGATA	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	3/12			chr3	TogoVar
TGFA_chr2_70442284_70558826	70504443	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0006 a0001c0002t0003g0006	2	344	0.0058	38	c.94+ others(55): Show c.94+10415_94+10416insGTATGTATATATATATATATATATATAT ATATATATAT	TGFA	ENSG00000163235.16	transcript	ENST00000295400.11	protein_coding	2/5			chr2	TogoVar
TGFA_chr2_70442284_70558826	70504451	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0266 a0001c0001t0030g0266	1	344	0.0029	38	c.94+ others(55): Show c.94+10407_94+10408insGTATGTATATATATATATATATATATAT ATATATATAT	TGFA	ENSG00000163235.16	transcript	ENST00000295400.11	protein_coding	2/5			chr2	TogoVar
TGFBR1_chr9_99100113_99159192	99147852	A A	ATTTTCTT others(31): Show ATTTTCTTAGGGGGGGGGGGGGGGGGGAGTGGGGGGAAG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	362	0.0028	38	c.138 others(53): Show c.1386+68_1386+69insTTTTCTTAGGGGGGGGGGGGGGGGGGAGTG GGGGGAAG	TGFBR1	ENSG00000106799.14	transcript	ENST00000374994.9	protein_coding	8/8			chr9	TogoVar
TGIF1_chr18_3445172_3464978	3464741	A A	AAAATTAA others(31): Show AAAATTAAAAATTAGCCAGGCATGGTGGTGTGCACCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	448	0.0022	38	c.68 others(49): Show c.6801_*6802insAAATTAAAAATTAGCCAGGCATGGTGGTGTGCAC CTTT	TGIF1	ENSG00000177426.22	transcript	ENST00000343820.10	protein_coding		4764		chr18	TogoVar
THADA_chr2_43225851_43601038	43229819	A A	AGAGTGTG others(31): Show AGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02145.hp2 HG01243.hp1 HG02145.hp2	a0003 a0003	a0003c0003 a0003c0009 a0003c0003 a0003c0009	a0003c0003t0001 a0003c0009t0001 a0003c0003t0001 a0003c0009t0001	a0003c0003t0001g0145 a0003c0009t0001g0021 a0003c0003t0001g0145 a0003c0009t0001g0021	2	206	0.0097	38	c.11 others(49): Show c.1128_*1129insACACACACACACACACACACACACACACACACAC ACTC	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding		1031		chr2	TogoVar
THBS2_chr6_169210785_169258846	169242631	A A	ACCTTCCC others(31): Show ACCTTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0046 a0003c0046	a0003c0046t0021 a0003c0046t0021	a0003c0046t0021g0315 a0003c0046t0021g0315	1	396	0.0025	38	c.695 others(53): Show c.695-674_695-673insGAAGGTGGGAGCGGTGGGAAGGTGGGAAGG TGGGAAGG	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THRAP3_chr1_36219443_36310357	36253760	A A	ATTTTTTT others(31): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01261.hp2 HG01255.hp1 HG01261.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0247 a0002c0003t0003g0249 a0002c0003t0003g0247 a0002c0003t0003g0249	2	252	0.0079	38	c.-13 others(57): Show c.-134-5603_-134-5602insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	THRAP3	ENSG00000054118.15	transcript	ENST00000354618.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
THRB_chr3_24112153_24499850	24168490	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0126 a0001c0001t0003g0126	1	178	0.0056	38	c.284 others(57): Show c.284-16001_284-16000insATATATATATATATATATATATATAT ATATATATATAT	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	5/10			chr3	TogoVar
THRB_chr3_24112153_24499850	24233583	G G	GAAAGAAA others(31): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	178	0.0056	38	c.-42 others(55): Show c.-42-4583_-42-4582insATTTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	3/10			chr3	TogoVar
THRB_chr3_24112153_24499850	24233587	G G	GAAAGAAA others(31): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02809.hp1 HG03225.hp2 HG02055.hp2 HG02809.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0044 a0001c0001t0013 a0001c0001t0044	a0001c0001t0013g0004 a0001c0001t0013g0005 a0001c0001t0044g0092 a0001c0001t0013g0004 a0001c0001t0013g0005 a0001c0001t0044g0092	3	178	0.0169	38	c.-42 others(55): Show c.-42-4587_-42-4586insATTTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	3/10			chr3	TogoVar
THSD4_chr15_71110471_71788383	71442660	G G	GTGTGTAT others(31): Show GTGTGTATGTATGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0084 a0001c0002t0016g0084	1	116	0.0086	38	c.115 others(59): Show c.1152+30838_1152+30839insGTGTATGTATGTATATATATATAT ATATATATATATAT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71724287	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0116 a0001c0003t0014g0116	1	116	0.0086	38	c.135 others(57): Show c.1358-4261_1358-4260insATATATATATATATATATATATATAT ATATATATATTT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71724287	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp2 HG01123.hp1 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0040 a0001c0003t0001 a0001c0002t0040 a0001c0003t0001	a0001c0002t0040g0013 a0001c0003t0001g0034 a0001c0002t0040g0013 a0001c0003t0001g0034	2	116	0.0172	38	c.135 others(57): Show c.1358-4261_1358-4260insATATATATATATATATATATATATAT ATATATATTTTT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD7A_chr7_11365365_11837198	11512942	G G	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0061 a0002c0061	a0002c0061t0018 a0002c0061t0018	a0002c0061t0018g0169 a0002c0061t0018g0169	1	180	0.0056	38	c.182 others(59): Show c.1822+28476_1822+28477insATATATATATATATATATATATAT ATATATATATATAT	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	6/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11769153	A A	ATATATAT others(31): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0012 a0012	a0012c0072 a0012c0072	a0012c0072t0023 a0012c0072t0023	a0012c0072t0023g0002 a0012c0072t0023g0002	1	180	0.0056	38	c.190 others(57): Show c.190+62603_190+62604insAAAAAAAAAAAAAAAAAATATATATA TATATATATATA	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	1/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11769153	A A	ATATATAT others(31): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0012 a0001c0010t0012	a0001c0010t0012g0139 a0001c0010t0012g0139	1	180	0.0056	38	c.190 others(57): Show c.190+62603_190+62604insAAAAAAAAAAAAAAAAAAAATATATA TATATATATATA	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	1/27			chr7	TogoVar
THSD7B_chr2_136760545_137682718	136983358	G G	GACACACA others(31): Show GACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0023 a0001c0004t0006g0023	1	98	0.0102	38	c.140 others(57): Show c.140-73050_140-73049insACACACACACACACACACACACACAC ACACACACACAC	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137211338	A A	ACACACAC others(31): Show ACACACACACACACACACACACACACACACACACAGAGG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02886.hp2 HG02647.hp2 HG02886.hp2	a0016 a0017 a0016 a0017	a0016c0026 a0017c0027 a0016c0026 a0017c0027	a0016c0026t0005 a0017c0027t0001 a0016c0026t0005 a0017c0027t0001	a0016c0026t0005g0085 a0017c0027t0001g0065 a0016c0026t0005g0085 a0017c0027t0001g0065	2	98	0.0204	38	c.172 others(59): Show c.1724-19679_1724-19678insACACACAGAGGCACACACACACAC ACACACACACACAC	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137211340	A A	ACACACAC others(31): Show ACACACACACACACACACACACACACACACACACAGAGG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0005 a0005	a0005c0054 a0005c0054	a0005c0054t0002 a0005c0054t0002	a0005c0054t0002g0031 a0005c0054t0002g0031	1	98	0.0102	38	c.172 others(59): Show c.1724-19679_1724-19678insACACACACAGAGGCACACACACAC ACACACACACACAC	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137211350	A A	ACACACAC others(31): Show ACACACACACACACACACACACACACACACACACAGAGG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0023 a0001c0004t0006g0023	1	98	0.0102	38	c.172 others(59): Show c.1724-19679_1724-19678insACACACACACACACACACAGAGGC ACACACACACACAC	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
TIA1_chr2_70204444_70253628	70235541	A A	AGTGTGTG others(31): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0287 a0001c0002t0007g0287	1	394	0.0025	38	c.123 others(53): Show c.123+537_123+538insACACACACACACACACACACACACACACAC ACACACAC	TIA1	ENSG00000116001.17	transcript	ENST00000433529.7	protein_coding	2/12			chr2	TogoVar
TIAM1_chr21_31113418_31349261	31228245	A A	AAAAAAAA others(31): Show AAAAAAAAGGAGAAATAATCTGATAAGGATTTTTCCTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02273.hp2 HG02738.hp2 others(7): Show HG01952.hp2 HG02273.hp2 HG02738.hp2 HG03017.hp2 HG03704.hp2 NA18978.hp2 NA18979.hp1 NA18994.hp1 NA19007.hp2 NA19057.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0023 a0002c0003 others(1): Show a0001c0001 a0001c0023 a0002c0003 a0002c0004	a0001c0001t0003 a0001c0001t0020 a0001c0023t0005 others(5): Show a0001c0001t0003 a0001c0001t0020 a0001c0023t0005 a0002c0003t0002 a0002c0003t0003 a0002c0003t0010 a0002c0003t0015 a0002c0004t0001	a0001c0001t0003g0037 a0001c0001t0020g0030 a0001c0023t0005g0009 others(7): Show a0001c0001t0003g0037 a0001c0001t0020g0030 a0001c0023t0005g0009 a0002c0003t0002g0197 a0002c0003t0003g0020 a0002c0003t0010g0173 a0002c0003t0015g0001 a0002c0004t0001g0076 a0002c0004t0001g0157 a0002c0004t0001g0198	10	212	0.0472	38	c.158 others(57): Show c.1585-2296_1585-2295insAAAGGAAAAATCCTTATCAGATTATT TCTCCTTTTTTT	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	6/27			chr21	TogoVar
TIAM1_chr21_31113418_31349261	31228246	A A	AAAAAAAA others(31): Show AAAAAAAAGGAGAAATAATCTGATAAGGATTTTTCCTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0205 a0003c0005t0001g0205	1	212	0.0047	38	c.158 others(57): Show c.1585-2297_1585-2296insAAAGGAAAAATCCTTATCAGATTATT TCTCCTTTTTTT	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	6/27			chr21	TogoVar
TIAM2_chr6_154990315_155262723	155018683	T T	TCCCCCCC others(31): Show TCCCCCCCCTCCCCCTCCCCTTCCCTTCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0017 a0002c0024t0017	a0002c0024t0017g0179 a0002c0024t0017g0179	1	230	0.0044	38	c.-20 others(59): Show c.-209+23191_-209+23192insCCCCCCCCTCCCCCTCCCCTTCCC TTCCCTCCCCTCCC	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26			chr6	TogoVar
TIAM2_chr6_154990315_155262723	155018683	T T	TCCCCCCC others(31): Show TCCCCCCCCTCCCCTCCCCTTCCCTTCCCTCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02135.hp2 NA18988.hp2 HG00741.hp1 HG02135.hp2 NA18988.hp2	a0001 a0003 a0023 a0001 a0003 a0023	a0001c0001 a0003c0006 a0023c0049 a0001c0001 a0003c0006 a0023c0049	a0001c0001t0004 a0003c0006t0011 a0023c0049t0001 a0001c0001t0004 a0003c0006t0011 a0023c0049t0001	a0001c0001t0004g0018 a0003c0006t0011g0105 a0023c0049t0001g0035 a0001c0001t0004g0018 a0003c0006t0011g0105 a0023c0049t0001g0035	3	230	0.0130	38	c.-20 others(59): Show c.-209+23191_-209+23192insCCCCCCCCTCCCCTCCCCTTCCCT TCCCTCCCCTCCCC	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26			chr6	TogoVar
TIAM2_chr6_154990315_155262723	155018704	T T	TCCCTTCC others(31): Show TCCCTTCCCTCCCCTCCCCCCCTCCTCTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0040 a0002c0003t0001g0040	1	230	0.0044	38	c.-20 others(59): Show c.-209+23216_-209+23217insTCCCTCCCCTCCCCCCCTCCTCTC CCCTCCCCTCCCCT	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIGD2_chr4_89106533_89119901	89116685	T T	TCCCCCCC others(31): Show TCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	430	0.0023	38	c.21 others(49): Show c.2133_*2134insCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCC CCCC	TIGD2	ENSG00000180346.5	transcript	ENST00000603357.3	protein_coding		1785		chr4	TogoVar
TIMELESS_chr12_56411363_56454426	56420029	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01358.hp1 HG03942.hp1 HG01261.hp1 HG01358.hp1 HG03942.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0171 a0001c0003t0002g0194 a0001c0003t0002g0337 a0001c0003t0002g0171 a0001c0003t0002g0194 a0001c0003t0002g0337	3	402	0.0075	38	c.322 others(55): Show c.3228+539_3228+540insATATATATATATATATATATATATATTT TTTTTTTTTT	TIMELESS	ENSG00000111602.12	transcript	ENST00000553532.6	protein_coding	26/28			chr12	TogoVar
TIMM22_chr17_992129_1008671	999358	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0065 a0001c0003t0021g0065	1	439	0.0023	38	c.436 others(53): Show c.436-153_436-152insTATATATATATATATATATATATATATATA TACATACA	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
TIMM9_chr14_58403495_58432531	58404099	G G	GTGTGTAT others(31): Show GTGTGTATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA19003.hp2 NA18977.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0216 a0001c0001t0001g0022 a0001c0001t0001g0216	2	378	0.0053	38	c.49 others(49): Show c.4934_*4935insTATATATATATATATATATATATATATATATATA CACA	TIMM9	ENSG00000100575.14	transcript	ENST00000395159.7	protein_coding		4395		chr14	TogoVar
TIMM9_chr14_58403495_58432531	58404099	G G	GTGTGTGT others(31): Show GTGTGTGTATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	378	0.0027	38	c.49 others(49): Show c.4934_*4935insTATATATATATATATATATATATATATATATACA CACA	TIMM9	ENSG00000100575.14	transcript	ENST00000395159.7	protein_coding		4395		chr14	TogoVar

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