Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GPR137B_chr1_236137539_236213907	236166464	A A	AATATATA others(36): Show AATATATACATTATATATATTTATATATACATATATATATTTAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	384	0.0026	43	c.415 others(60): Show c.415-2213_415-2171dupCATATATATATTTATATATATACATTAT ATATATTTATATATA	GPR137B	ENSG00000077585.14	transcript	ENST00000366592.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
GPR137B_chr1_236137539_236213907	236166492	A A	AATATATA others(36): Show AATATATATATTTATATATATACATTATATATATTTATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	378	0.0026	43	c.415 others(60): Show c.415-2214_415-2213insATATATATATTTATATATATACATTATA TATATTTATATATAT	GPR137B	ENSG00000077585.14	transcript	ENST00000366592.8	protein_coding	1/6			chr1	TogoVar
GPR137B_chr1_236137539_236213907	236186280	A A	ATATAATA others(36): Show ATATAATATATATTATATATTATATATAATATATATAATATATT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02451.hp2 NA18522.hp1 HG00741.hp1 HG02451.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0021 a0001c0001t0001g0051 a0001c0001t0002g0117 a0001c0001t0001g0021 a0001c0001t0001g0051 a0001c0001t0002g0117	3	375	0.0080	43	c.966 others(60): Show c.966+2374_966+2375insTATAATATATATTATATATTATATATAA TATATATAATATATT	GPR137B	ENSG00000077585.14	transcript	ENST00000366592.8	protein_coding	5/6			chr1	TogoVar
GPR139_chr16_20023239_20078890	20041152	A A	AGAGGAGG others(36): Show AGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18964.hp1 NA18980.hp2 NA18944.hp2 NA18964.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0024 a0001c0001t0002g0029 a0001c0001t0016g0342 a0001c0001t0002g0024 a0001c0001t0002g0029 a0001c0001t0016g0342	3	284	0.0106	43	c.128 others(60): Show c.128-8484_128-8483insCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCTC	GPR139	ENSG00000180269.8	transcript	ENST00000570682.2	protein_coding	1/1			chr16	TogoVar
GPR139_chr16_20023239_20078890	20041252	G G	GGAGGGGA others(36): Show GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0351 a0001c0001t0016g0351	1	284	0.0035	43	c.128 others(60): Show c.128-8584_128-8583insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTC	GPR139	ENSG00000180269.8	transcript	ENST00000570682.2	protein_coding	1/1			chr16	TogoVar
GPR146_chr7_1039546_1064261	1059740	G G	GGTCCGTA others(36): Show GGTCCGTAGTGAGGCAGGTCTTAGGTGGGTCCGTAGTGGGGCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00738.hp1 HG00741.hp2 others(89): Show HG00597.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01123.hp1 HG01255.hp1 HG01361.hp2 HG01515.hp2 HG01516.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02071.hp1 HG02109.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03225.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG04115.hp1 HG04204.hp1 HG04204.hp2 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18951.hp1 NA18953.hp1 NA18959.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18968.hp2 NA18975.hp2 NA18978.hp2 NA18983.hp2 NA18985.hp1 NA19000.hp1 NA19003.hp1 NA19007.hp2 NA19043.hp2 NA19056.hp2 NA19064.hp1 NA19066.hp2 NA19082.hp1 NA19086.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0020 a0001c0002t0005 a0002c0003t0004 a0008c0007t0004	a0001c0001t0001g0017 a0001c0001t0002g0004 a0001c0001t0002g0013 others(52): Show a0001c0001t0001g0017 a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0022 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0045 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0107 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0152 a0001c0001t0002g0170 a0001c0001t0002g0175 a0001c0001t0002g0199 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0232 a0001c0001t0010g0034 a0001c0001t0010g0105 a0001c0001t0010g0106 a0001c0001t0010g0108 a0001c0001t0010g0110 a0001c0001t0012g0188 a0001c0001t0012g0195 a0001c0001t0014g0057 a0001c0001t0020g0080 a0001c0002t0005g0094 a0002c0003t0004g0006 a0002c0003t0004g0012 a0002c0003t0004g0020 a0002c0003t0004g0056 a0002c0003t0004g0136 a0002c0003t0004g0173 a0002c0003t0004g0225 a0008c0007t0004g0012	92	428	0.2150	43	c.12 others(54): Show c.1223_*1224insGTCCGTAGTGAGGCAGGTCTTAGGTGGGTCCGTA GTGGGGCGA	GPR146	ENSG00000164849.10	transcript	ENST00000444847.2	protein_coding		480		chr7	TogoVar
GPR157_chr1_9095305_9134102	9123552	A A	AATATATA others(36): Show AATATATATTTAAAATATATCTAAATTAAATATATATTTAAAAT	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	109	0.0092	43	c.383 others(60): Show c.383+5092_383+5093insATTTTAAATATATATTTAATTTAGATAT ATTTTAAATATATAT	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GPR157_chr1_9095305_9134102	9123552	A A	AATATATA others(36): Show AATATATATTTAAAATATATCTAATTTAAATATATATTTAAAAT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0045 a0004c0004t0001g0045	1	109	0.0092	43	c.383 others(60): Show c.383+5092_383+5093insATTTTAAATATATATTTAAATTAGATAT ATTTTAAATATATAT	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GPR158_chr10_25170001_25607229	25241372	C C	CTCTTCTC others(36): Show CTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	54	0.0185	43	c.100 others(64): Show c.1008+20218_1008+20219insTCTCTTCTCTTCTCTTCTCTTCTC TTCTCTTCTCTTCTCTTCT	GPR158	ENSG00000151025.11	transcript	ENST00000376351.4	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
GPR182_chr12_56989492_57003447	56993353	A A	ACTTAATA others(36): Show ACTTAATATATACTCAATCCCGTCCAGCCGACACACCTTTGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0002 a0004c0006t0002g0002	1	322	0.0031	43	c.-13 others(54): Show c.-1312_-1311insCTTAATATATACTCAATCCCGTCCAGCCGACACA CCTTTGGCT	GPR182	ENSG00000166856.3	transcript	ENST00000300098.3	protein_coding		1138		chr12	TogoVar
GPR4_chr19_45584764_45607212	45594063	A A	AAAAAAAT others(36): Show AAAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0149 a0001c0001t0006g0149	1	228	0.0044	43	c.-83 others(62): Show c.-831-1367_-831-1366insATATATATATATATATATATATATAT ATATATATATATTTTTT	GPR4	ENSG00000177464.5	transcript	ENST00000323040.5	protein_coding	1/1			chr19	TogoVar
GPRC5A_chr12_12886562_12922937	12921887	T T	TTAAGGGG others(36): Show TTAAGGGGGCTGTGTGTTGCAGGACTACTCCCTTGTTCAGAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0283 a0001c0002t0003g0283	1	394	0.0025	43	c.93 others(54): Show c.9348_*9349insTAAGGGGGCTGTGTGTTGCAGGACTACTCCCTTG TTCAGAGCC	GPRC5A	ENSG00000013588.10	transcript	ENST00000014914.6	protein_coding		3951		chr12	TogoVar
GRAMD1B_chr11_123425269_123632767	123457117	A A	AAAGAAAG others(36): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0027 a0001c0002t0026g0027	1	119	0.0084	43	c.375 others(62): Show c.375-23697_375-23696insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAA	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRAMD1B_chr11_123425269_123632767	123513617	C C	CTTTCTTT others(36): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0282 a0001c0001t0008g0282	1	83	0.0120	43	c.452 others(62): Show c.452+32724_452+32725insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTT	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	2/19			chr11	TogoVar
GRHL2_chr8_101487439_101674726	101509141	C C	CCTTTCTT others(36): Show CCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTTCTCT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0285 a0003c0004t0002g0285	1	271	0.0037	43	c.20+ others(60): Show c.20+16355_20+16356insTCTTTCTTTCTTTCTTTCTTTTTCTTTC TTTCTTTTCTCTCTT	GRHL2	ENSG00000083307.12	transcript	ENST00000646743.1	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
GRIA2_chr4_157215728_157371075	157256149	T T	TATATATT others(36): Show TATATATTACATATATATGTTATATATTATATATAATATATAAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG01261.hp1 others(12): Show HG00280.hp1 HG00438.hp1 HG01261.hp1 HG01496.hp1 HG02135.hp1 HG02165.hp1 HG02559.hp1 HG03195.hp1 NA18906.hp1 NA18942.hp2 NA18950.hp2 NA18975.hp1 NA18991.hp2 NA19063.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0003t0001	a0001c0001t0001g0056 a0001c0001t0002g0077 a0001c0001t0002g0083 others(12): Show a0001c0001t0001g0056 a0001c0001t0002g0077 a0001c0001t0002g0083 a0001c0001t0002g0098 a0001c0001t0003g0064 a0001c0001t0003g0080 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0004g0001 a0001c0001t0004g0059 a0001c0001t0004g0070 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0006g0090 a0001c0003t0001g0022	15	215	0.0698	43	c.229 others(62): Show c.229+34369_229+34411dupTATATATAATATATAACATATATTAC ATATATATGTTATATAT	GRIA2	ENSG00000120251.22	transcript	ENST00000264426.14	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
GRID1_chr10_85594552_86371795	85599802	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0095 a0001c0002t0035g0095	1	18	0.0556	43	c.24 others(54): Show c.2470_*2471insATATATATATATATATATATATATATTTTTTTTT TTTTTTTTT	GRID1	ENSG00000182771.19	transcript	ENST00000327946.12	protein_coding	16/16	2470		chr10	TogoVar
GRID1_chr10_85594552_86371795	85599802	A A	AAATATAT others(36): Show AAATATATATATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0042 a0001c0001t0016g0043 a0001c0001t0016g0042 a0001c0001t0016g0043	2	19	0.1053	43	c.24 others(54): Show c.2470_*2471insATATATATATATATATATATATATATATATATAT ATATATATT	GRID1	ENSG00000182771.19	transcript	ENST00000327946.12	protein_coding	16/16	2470		chr10	TogoVar
GRIK4_chr11_120506748_120993906	120794095	G G	GTGTTAGG others(36): Show GTGTTAGGGCTGAGAGCCGGGTGATGGTTACAGGTGAGGGAAGT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01192.hp2 HG01243.hp1 others(15): Show HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01515.hp1 HG01516.hp1 HG02109.hp2 HG02257.hp2 HG02486.hp1 HG02559.hp1 HG02818.hp1 HG02818.hp2 HG02976.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03834.hp2 NA19043.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0012 a0002c0008 a0003c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(12): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0017 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0016 a0001c0003t0024 a0001c0004t0001 a0001c0007t0021 a0001c0012t0006 a0002c0008t0006 a0003c0010t0014	a0001c0001t0002g0079 a0001c0001t0002g0107 a0001c0001t0003g0047 others(15): Show a0001c0001t0002g0079 a0001c0001t0002g0107 a0001c0001t0003g0047 a0001c0001t0006g0009 a0001c0001t0017g0076 a0001c0001t0018g0040 a0001c0002t0001g0006 a0001c0002t0002g0067 a0001c0002t0002g0111 a0001c0002t0007g0122 a0001c0002t0016g0103 a0001c0003t0024g0123 a0001c0004t0001g0036 a0001c0004t0001g0078 a0001c0007t0021g0070 a0001c0012t0006g0065 a0002c0008t0006g0105 a0003c0010t0014g0064	18	105	0.1714	43	c.83- others(58): Show c.83-8503_83-8461dupCTGAGAGCCGGGTGATGGTTACAGGTGAGG GAAGTTGTTAGGG	GRIK4	ENSG00000149403.13	transcript	ENST00000527524.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
GSE1_chr16_85608322_85681200	85653187	G G	GCCCCCCT others(36): Show GCCCCCCTCCGCCCCCCTCCGCCCCCCTCCGCCCCCCCCCTCCT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0208 a0002c0004t0001g0208	1	270	0.0037	43	c.427 others(60): Show c.427-1082_427-1081insGCCCCCCTCCGCCCCCCTCCGCCCCCCC CCTCCTCCCCCCTCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSTM2_chr1_109663057_109680286	109670103	A A	AGGGGAGG others(36): Show AGGGGAGGTGGGGGGGGAGGGGGGAGGGGGGGTGGCCTCCTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02976.hp1 HG03041.hp1 others(1): Show HG02572.hp1 HG02976.hp1 HG03041.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0050 a0001c0001t0001g0087 a0001c0001t0001g0025 a0001c0001t0001g0050 a0001c0001t0001g0087	4	197	0.0203	43	c.360 others(58): Show c.360+532_360+533insGGGGAGGTGGGGGGGGAGGGGGGAGGGGGG GTGGCCTCCTTTT	GSTM2	ENSG00000213366.13	transcript	ENST00000241337.9	protein_coding	5/7			chr1	TogoVar
GSTP1_chr11_67578812_67591653	67583377	A A	AATAAAAT others(36): Show AATAAAATAAAATAATAAAATAAAATAAAATAAAAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	157	0.0064	43	c.-46 others(52): Show c.-467_-466insATAAAATAAAATAATAAAATAAAATAAAATAAAAAA ATAAAAT	GSTP1	ENSG00000084207.18	transcript	ENST00000398606.10	protein_coding		434		chr11	TogoVar
GTF2H5_chr6_158163350_158204344	158169402	T T	TTATATAT others(36): Show TTATATATTATATATAATATGTATATTATATATTATATATAATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00738.hp1 HG01069.hp2 others(16): Show HG00408.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG02155.hp2 HG02300.hp1 HG03927.hp1 NA18956.hp2 NA18961.hp1 NA18971.hp2 NA18983.hp1 NA18994.hp1 NA19003.hp1 NA19056.hp2 NA19057.hp2 NA19072.hp1 NA19082.hp2 NA19085.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0046 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0046 a0001c0001t0048 a0001c0001t0050 a0001c0001t0119	a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0030 others(14): Show a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0005g0029 a0001c0001t0046g0135 a0001c0001t0048g0013 a0001c0001t0050g0032 a0001c0001t0119g0013	19	325	0.0585	43	c.-35 others(60): Show c.-35+1008_-35+1009insATATATTATATATAATATGTATATTATA TATTATATATAATAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GUCA1B_chr6_42178284_42199956	42188886	T T	TTCTATCT others(36): Show TTCTATCTATCATCTATCTATCTATCTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02976.hp2 NA19043.hp2 HG00099.hp2 HG02976.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0008 a0001c0002t0001 a0001c0002t0008	a0001c0002t0001g0130 a0001c0002t0001g0138 a0001c0002t0008g0157 a0001c0002t0001g0130 a0001c0002t0001g0138 a0001c0002t0008g0157	3	352	0.0085	43	c.208 others(58): Show c.208-156_208-155insTAGATAGATAGATAGATAGATAGATAGATA GATGATAGATAGA	GUCA1B	ENSG00000112599.9	transcript	ENST00000230361.4	protein_coding	1/3			chr6	TogoVar
GUCY1A2_chr11_106669019_107023476	106698119	A A	ATTTTTTT others(36): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0170 a0001c0001t0005g0170	1	99	0.0101	43	c.199 others(64): Show c.1992-10364_1992-10363insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	7/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106709823	A A	ACACGTAT others(36): Show ACACGTATAGAATATATAGTTATATACACGTATAGAATATATAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01169.hp1 HG01109.hp2 HG01169.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0025 a0001c0006t0025	a0001c0006t0025g0200 a0001c0006t0025g0209 a0001c0006t0025g0200 a0001c0006t0025g0209	2	251	0.0080	43	c.183 others(62): Show c.1837-1158_1837-1157insCTATATATTCTATACGTGTATATAAC TATATATTCTATACGTG	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106944215	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0001 a0001c0001t0027g0001	1	60	0.0167	43	c.488 others(60): Show c.488-4038_488-4037insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	3/7			chr11	TogoVar
GUCY2D_chr17_7997615_8025342	8014547	A A	AGGGGGGG others(36): Show AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0143 a0001c0004t0001g0143	1	430	0.0023	43	c.241 others(58): Show c.2413-51_2413-50insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGG	GUCY2D	ENSG00000132518.7	transcript	ENST00000254854.5	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
HCN2_chr19_584881_622159	604607	A A	ATATGAGG others(36): Show ATATGAGGGTTGTGCTGGGCGGGATCAAGCAGCAAGGGCGGGAC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02129.hp2 HG02976.hp1 others(2): Show HG02040.hp2 HG02129.hp2 HG02976.hp1 HG03669.hp1 HG03927.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0006 a0001c0009 others(2): Show a0001c0001 a0001c0006 a0001c0009 a0002c0073 a0008c0095	a0001c0001t0001 a0001c0006t0002 a0001c0009t0001 others(2): Show a0001c0001t0001 a0001c0006t0002 a0001c0009t0001 a0002c0073t0001 a0008c0095t0001	a0001c0001t0001g0141 a0001c0006t0002g0244 a0001c0009t0001g0113 others(2): Show a0001c0001t0001g0141 a0001c0006t0002g0244 a0001c0009t0001g0113 a0002c0073t0001g0314 a0008c0095t0001g0211	5	353	0.0142	43	c.105 others(60): Show c.1057-432_1057-431insATCAAGCAGCAAGGGCGGGACTATGAGG GTTGTGCTGGGCGGG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	604607	A A	ATATGAGG others(36): Show ATATGAGGGTTGTGCTGGGCGGGGTCAGGCAGCAAGGGCGGGAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02109.hp1 others(4): Show HG01891.hp1 HG01891.hp2 HG02109.hp1 HG02809.hp2 HG03516.hp1 NA18522.hp1 NA19240.hp1	a0001 a0014 a0001 a0014	a0001c0003 a0001c0006 a0001c0014 others(3): Show a0001c0003 a0001c0006 a0001c0014 a0001c0020 a0001c0082 a0014c0080	a0001c0003t0004 a0001c0006t0006 a0001c0014t0027 others(3): Show a0001c0003t0004 a0001c0006t0006 a0001c0014t0027 a0001c0020t0008 a0001c0082t0004 a0014c0080t0004	a0001c0003t0004g0012 a0001c0006t0006g0249 a0001c0014t0027g0248 others(4): Show a0001c0003t0004g0012 a0001c0006t0006g0249 a0001c0014t0027g0248 a0001c0020t0008g0010 a0001c0020t0008g0013 a0001c0082t0004g0208 a0014c0080t0004g0386	7	355	0.0197	43	c.105 others(60): Show c.1057-420_1057-378dupAGGGCGGGACTATGAGGGTTGTGCTGGG CGGGGTCAGGCAGCA	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	604607	A A	ATATGAGG others(36): Show ATATGAGGGTTGTGCTGGGCGGGGTCAGGCAGCAGGGGCGGGAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02896.hp2 HG02897.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp1	a0002 a0005 a0002 a0005	a0002c0050 a0005c0043 a0002c0050 a0005c0043	a0002c0050t0002 a0005c0043t0006 a0002c0050t0002 a0005c0043t0006	a0002c0050t0002g0361 a0005c0043t0006g0108 a0005c0043t0006g0109 a0002c0050t0002g0361 a0005c0043t0006g0108 a0005c0043t0006g0109	3	351	0.0085	43	c.105 others(60): Show c.1057-421_1057-420insGGGGCGGGACTATGAGGGTTGTGCTGGG CGGGGTCAGGCAGCA	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	604607	A A	ATATGAGG others(36): Show ATATGAGGGTTGTGCTGGGCGGGGTCAGGCAGCAGGGGCGGGGC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp2 HG00621.hp2 HG00673.hp2	a0001 a0001	a0001c0014 a0001c0040 a0001c0014 a0001c0040	a0001c0014t0003 a0001c0040t0003 a0001c0014t0003 a0001c0040t0003	a0001c0014t0003g0096 a0001c0040t0003g0197 a0001c0014t0003g0096 a0001c0040t0003g0197	2	350	0.0057	43	c.105 others(60): Show c.1057-421_1057-420insGGGGCGGGGCTATGAGGGTTGTGCTGGG CGGGGTCAGGCAGCA	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	604641	A A	AGGGCGGG others(36): Show AGGGCGGGACTATGAGGGTTGTGCTGGGCGGGGTCAGGCAGCAG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0001 a0001c0039t0001	a0001c0039t0001g0155 a0001c0039t0001g0155	1	343	0.0029	43	c.105 others(60): Show c.1057-412_1057-370dupACTATGAGGGTTGTGCTGGGCGGGGTCA GGCAGCAGGGGCGGG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	604649	A A	ACTATGAG others(36): Show ACTATGAGGGTTGTGCTGGGCGGGGTCAGGCAGCAGGGGCGGGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0101 a0001c0101	a0001c0101t0008 a0001c0101t0008	a0001c0101t0008g0024 a0001c0101t0008g0024	1	403	0.0025	43	c.105 others(60): Show c.1057-410_1057-368dupTATGAGGGTTGTGCTGGGCGGGGTCAGG CAGCAGGGGCGGGGC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	604656	G G	GGGTTGTG others(36): Show GGGTTGTGCTGGGCGGGGTCAGGCAGCAAGGGCGGGACAATGAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02258.hp2 HG02486.hp1 others(2): Show HG01192.hp1 HG02258.hp2 HG02486.hp1 HG03130.hp2 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0020 a0001c0034 others(2): Show a0001c0003 a0001c0020 a0001c0034 a0001c0084 a0001c0108	a0001c0003t0002 a0001c0020t0004 a0001c0034t0004 others(2): Show a0001c0003t0002 a0001c0020t0004 a0001c0034t0004 a0001c0084t0004 a0001c0108t0004	a0001c0003t0002g0372 a0001c0020t0004g0030 a0001c0034t0004g0043 others(2): Show a0001c0003t0002g0372 a0001c0020t0004g0030 a0001c0034t0004g0043 a0001c0084t0004g0101 a0001c0108t0004g0042	5	406	0.0123	43	c.105 others(60): Show c.1057-378_1057-377insAGGGCGGGACAATGATGGTTGTGCTGGG CGGGGTCAGGCAGCA	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	604743	G G	GGGTTGTG others(36): Show GGGTTGTGCTGGGCGGGATCAAGCAGCAAGGGCGGGACAATGAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01069.hp2 HG01070.hp2 others(53): Show HG00639.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01243.hp1 HG01358.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02145.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02723.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG04115.hp2 NA18747.hp2 NA18967.hp1 NA18982.hp2 NA19074.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0011	a0001c0001 a0001c0008 a0001c0009 others(27): Show a0001c0001 a0001c0008 a0001c0009 a0001c0013 a0001c0017 a0001c0018 a0001c0041 a0001c0045 a0001c0046 a0001c0078 a0001c0102 a0001c0104 a0001c0105 a0001c0114 a0001c0115 a0001c0119 a0002c0004 a0002c0038 a0002c0050 a0002c0071 a0002c0072 a0002c0073 a0002c0074 a0003c0120 a0004c0029 a0004c0089 a0005c0043 a0007c0103 a0008c0106 a0011c0049	a0001c0001t0004 a0001c0008t0001 a0001c0009t0001 others(33): Show a0001c0001t0004 a0001c0008t0001 a0001c0009t0001 a0001c0009t0002 a0001c0009t0011 a0001c0013t0001 a0001c0013t0002 a0001c0017t0001 a0001c0018t0001 a0001c0018t0002 a0001c0018t0023 a0001c0041t0001 a0001c0045t0003 a0001c0046t0001 a0001c0078t0008 a0001c0102t0005 a0001c0104t0001 a0001c0105t0001 a0001c0114t0004 a0001c0115t0004 a0001c0119t0011 a0002c0004t0004 a0002c0038t0001 a0002c0050t0002 a0002c0071t0010 a0002c0072t0001 a0002c0073t0001 a0002c0074t0002 a0003c0120t0002 a0004c0029t0002 a0004c0029t0004 a0004c0089t0003 a0005c0043t0006 a0007c0103t0001 a0008c0106t0002 a0011c0049t0001	a0001c0001t0004g0068 a0001c0008t0001g0022 a0001c0009t0001g0005 others(49): Show a0001c0001t0004g0068 a0001c0008t0001g0022 a0001c0009t0001g0005 a0001c0009t0001g0069 a0001c0009t0001g0113 a0001c0009t0001g0133 a0001c0009t0001g0218 a0001c0009t0001g0388 a0001c0009t0001g0395 a0001c0009t0002g0153 a0001c0009t0002g0241 a0001c0009t0011g0120 a0001c0013t0001g0131 a0001c0013t0001g0132 a0001c0013t0001g0200 a0001c0013t0001g0389 a0001c0013t0001g0391 a0001c0013t0001g0392 a0001c0013t0001g0394 a0001c0013t0002g0199 a0001c0017t0001g0001 a0001c0018t0001g0039 a0001c0018t0001g0051 a0001c0018t0002g0056 a0001c0018t0023g0045 a0001c0041t0001g0099 a0001c0045t0003g0006 a0001c0046t0001g0050 a0001c0078t0008g0031 a0001c0102t0005g0240 a0001c0104t0001g0176 a0001c0105t0001g0121 a0001c0114t0004g0040 a0001c0115t0004g0062 a0001c0119t0011g0239 a0002c0004t0004g0364 a0002c0038t0001g0277 a0002c0050t0002g0361 a0002c0071t0010g0273 a0002c0072t0001g0243 a0002c0073t0001g0314 a0002c0074t0002g0353 a0003c0120t0002g0162 a0004c0029t0002g0103 a0004c0029t0002g0105 a0004c0029t0004g0104 a0004c0089t0003g0106 a0005c0043t0006g0108 a0005c0043t0006g0109 a0007c0103t0001g0393 a0008c0106t0002g0188 a0011c0049t0001g0293	56	399	0.1404	43	c.105 others(60): Show c.1057-306_1057-305insCGGGATCAAGCAGCAAGGGCGGGACAAT GATGGTTGTGCTGGG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	620966	G G	GGGGCGCG others(36): Show GGGGCGCGGGGGCGCCGGGGGAGGGCGCGGGGGCGCCGGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0193 a0001c0003t0002g0193	1	350	0.0029	43	c.44 others(54): Show c.4492_*4493insGGGCGCGGGGGCGCCGGGGGAGGGCGCGGGGGCG CCGGGGGGA	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding		3808		chr19	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0303 a0001c0005t0009g0303	1	153	0.0065	43	c.591 others(62): Show c.5912-2422_5912-2421insATATATATATATATATATATATATTT TTTTTTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 NA18970.hp2 HG01070.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0103 a0001c0002t0001g0084 a0001c0002t0001g0103	2	154	0.0130	43	c.591 others(62): Show c.5912-2422_5912-2421insATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02148.hp1 NA19000.hp2 HG02148.hp1 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0011 a0001c0005t0001 a0001c0002t0011 a0001c0005t0001	a0001c0002t0011g0311 a0001c0005t0001g0017 a0001c0002t0011g0311 a0001c0005t0001g0017	2	154	0.0130	43	c.591 others(62): Show c.5912-2422_5912-2421insATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HECTD1_chr14_31095117_31212793	31134042	T T	TAAAAAAA others(36): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0093 a0001c0004t0005g0093	1	139	0.0072	43	c.357 others(60): Show c.3579-368_3579-367insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding	22/42			chr14	TogoVar
HERC4_chr10_67916905_68080283	68059843	T T	TATTATAT others(36): Show TATTATATATCATAATATATATTATAATAATATATATCATAATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0293 a0001c0001t0009g0293	1	179	0.0056	43	c.226 others(62): Show c.226+13039_226+13040insTATTATGATATATATTATTATAATAT ATATTATGATATATAAT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HERPUD1_chr16_56927142_56949864	56947690	G G	GCAGGGTT others(36): Show GCAGGGTTGAGATTTCTGAGCTCAAGTGATCTGCCTGCCTCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	425	0.0024	43	c.44 others(54): Show c.4400_*4401insCAGGGTTGAGATTTCTGAGCTCAAGTGATCTGCC TGCCTCACC	HERPUD1	ENSG00000051108.15	transcript	ENST00000439977.7	protein_coding		2827		chr16	TogoVar
HES4_chr1_993964_1005097	998764	C C	CGGAGGGG others(36): Show CGGAGGGGAGGGCGCGGAGCGGAGGGGAGGGCGCGGAGCGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01255.hp2 HG03453.hp1 others(2): Show HG01175.hp2 HG01255.hp2 HG03453.hp1 HG03471.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	5	128	0.0391	43	c.29 others(52): Show c.294_*295insCCTCCGCTCCGCGCCCTCCCCTCCGCTCCGCGCCCT CCCCTCC	HES4	ENSG00000188290.11	transcript	ENST00000304952.11	protein_coding		199		chr1	TogoVar
HHAT_chr1_210323902_210681290	210526367	G G	GTTTTGTT others(36): Show GTTTTGTTTTGTTTTGTTTTGTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03453.hp1 NA18522.hp1 others(1): Show HG02886.hp1 HG03453.hp1 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0009 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0002t0001 a0001c0002t0008	a0001c0001t0002g0186 a0001c0001t0009g0143 a0001c0002t0001g0124 others(1): Show a0001c0001t0002g0186 a0001c0001t0009g0143 a0001c0002t0001g0124 a0001c0002t0008g0126	4	50	0.0800	43	c.104 others(64): Show c.1043+13183_1043+13184insGTTTTGTTTTGTTTTGTTTTTTTT TTTTTTTTTTTTTTTTTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HLA-DRB1_chr6_32573775_32594848	32575894	T T	TGGTGTTC others(36): Show TGGTGTTCACAGCCACGGTTTGGAATACTACAAAATTCACTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01192.hp2 HG02055.hp2 others(19): Show HG01109.hp2 HG01192.hp2 HG02055.hp2 HG02109.hp2 HG02922.hp2 HG02965.hp2 HG03017.hp2 HG03041.hp2 HG03139.hp2 HG03540.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18980.hp2 NA18981.hp2 NA18989.hp2 NA18994.hp2 NA19006.hp2 NA19065.hp2 NA19074.hp2 NA19084.hp2	a0007 a0012 a0018 others(2): Show a0007 a0012 a0018 a0026 a0028	a0007c0006 a0012c0012 a0018c0019 others(2): Show a0007c0006 a0012c0012 a0018c0019 a0026c0031 a0028c0032	a0007c0006t0003 a0012c0012t0003 a0018c0019t0003 others(2): Show a0007c0006t0003 a0012c0012t0003 a0018c0019t0003 a0026c0031t0003 a0028c0032t0003	a0007c0006t0003g0004 a0007c0006t0003g0046 a0007c0006t0003g0048 others(5): Show a0007c0006t0003g0004 a0007c0006t0003g0046 a0007c0006t0003g0048 a0012c0012t0003g0010 a0012c0012t0003g0057 a0018c0019t0003g0022 a0026c0031t0003g0045 a0028c0032t0003g0055	22	99	0.2222	43	c.31 others(54): Show c.3196_*3197insGTGAGTGAATTTTGTAGTATTCCAAACCGTGGCT GTGAACACC	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding		2880		chr6	TogoVar
HOPX_chr4_56642998_56686296	56685935	A A	ATATATAA others(36): Show ATATATAATGTATTATAATGTATTATATATAATGTATTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	272	0.0037	43	c.-47 others(54): Show c.-4765_-4764insATATATAATACATTATATATAATACATTATAATA CATTATATA	HOPX	ENSG00000171476.23	transcript	ENST00000420433.6	protein_coding		4640		chr4	TogoVar
HOXA3_chr7_27102010_27157583	27114818	T T	TATATATA others(36): Show TATATATATAATATATATTATATATTATATATATAATATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	245	0.0041	43	c.-12 others(62): Show c.-120-4059_-120-4058insTATATATATTATATATATAATATATA ATATATATTATATATAT	HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	4/5			chr7	TogoVar
HPSE2_chr10_98452077_99240852	99132146	G G	GAAGAAGA others(36): Show GAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0028 a0001c0001t0005g0028	1	115	0.0087	43	c.610 others(62): Show c.610+12091_610+12092insTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTCTT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HRH3_chr20_62209960_62225278	62212941	G G	GGGAGGGA others(36): Show GGGAGGGAGAGTGGGGATGGGGGGTAAGGAGAGCGGGGATGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	364	0.0027	43	c.30 others(54): Show c.3064_*3065insACCCATCCCCGCTCTCCTTACCCCCCATCCCCAC TCTCCCTCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		2018		chr20	TogoVar

Search by Variant

Search

Search Results