Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
HEXD_chr17_82413347_82447645	82443764	G G	GGCCACGG others(89): Show GGCCACGGGTCCTGTGGGCGGTGCACGGGCTCAGGCACACCGGGAATGTG CCACGGGTCCTGTGGGCGGTGCACGGGCTCAGGCACACCAGGAATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	260	0.0038	96	c.13 others(107): Show c.1380_*1381insGCCACGGGTCCTGTGGGCGGTGCACGGGCTCAGG CACACCGGGAATGTGCCACGGGTCCTGTGGGCGGTGCACGGGCTCAGGCA CACCAGGAATGT		HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding					1120		chr17	TogoVar
HEXD_chr17_82413347_82447645	82443764	G G	GGCCACGG others(89): Show GGCCACGGGTCCTGTGGGCGGTGCACGGGCTCAGGCACACCGGGAATGTG CCACGGGTCCTGTGGGCGGTGCACGGGCTCAGGCACACCGGGAATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG00639.hp2 others(86): Show HG00423.hp1 HG00597.hp2 HG00639.hp2 HG01069.hp2 HG01071.hp1 HG01106.hp2 HG01109.hp1 HG01175.hp1 HG01257.hp1 HG01358.hp1 HG01433.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01993.hp1 HG02040.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02683.hp2 HG02738.hp1 HG03139.hp2 HG03239.hp2 HG03490.hp1 HG03831.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18612.hp1 NA18940.hp2 NA18942.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18961.hp2 NA18964.hp2 NA18966.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18984.hp1 NA18987.hp1 NA18991.hp1 NA18993.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19086.hp2 NA19089.hp2 NA20300.hp2 NA20905.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0006 others(3): Show a0001c0001 a0001c0003 a0001c0006 a0001c0014 a0002c0004 a0006c0019	a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 a0001c0014t0001 a0002c0004t0001 a0006c0019t0001	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 others(54): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0069 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0189 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0249 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0003t0001g0001 a0001c0003t0001g0004 a0001c0003t0001g0011 a0001c0003t0001g0018 a0001c0003t0001g0073 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0081 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0128 a0001c0003t0001g0129 a0001c0003t0001g0131 a0001c0003t0001g0132 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0138 a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0146 a0001c0003t0001g0147 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0158 a0001c0003t0001g0160 a0001c0006t0001g0248 a0001c0006t0001g0294 a0001c0014t0001g0264 a0002c0004t0001g0231 a0006c0019t0001g0145	89	348	0.2557	96	c.13 others(107): Show c.1380_*1381insGCCACGGGTCCTGTGGGCGGTGCACGGGCTCAGG CACACCGGGAATGTGCCACGGGTCCTGTGGGCGGTGCACGGGCTCAGGCA CACCGGGAATGT		HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding					1120		chr17	TogoVar
HEXD_chr17_82413347_82447645	82443764	G G	GGCCATGG others(89): Show GGCCATGGGTCCTGTGGGCGGTGCACGGGCTCAGGCACACCGGGAATGTG CCACGGGTCCTGTGGGCGGTGCACGGGCTCAGGCACACCGGGAATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02809.hp1 HG02630.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0050 a0001c0001t0001g0051	2	261	0.0077	96	c.13 others(107): Show c.1380_*1381insGCCATGGGTCCTGTGGGCGGTGCACGGGCTCAGG CACACCGGGAATGTGCCACGGGTCCTGTGGGCGGTGCACGGGCTCAGGCA CACCGGGAATGT		HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding					1120		chr17	TogoVar
HIGD1C_chr12_50947544_50975607	50948889	G G	GGGGAGGG others(89): Show GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	296	0.0034	96	c.-38 others(107): Show c.-3890_-3889insGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGG AGGGGAGGGGGA		HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding					3654		chr12	TogoVar
HIGD1C_chr12_50947544_50975607	50948889	G G	GGGGAGGG others(89): Show GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0139 a0001c0002t0002g0139	1	296	0.0034	96	c.-38 others(107): Show c.-3890_-3889insGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGG GGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGG AGGGGAGGGGGA		HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding					3654		chr12	TogoVar
HIGD1C_chr12_50947544_50975607	50948917	G G	GGGGAGGG others(89): Show GGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA19090.hp2 NA18947.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0005 a0001c0001t0001g0006	2	210	0.0095	96	c.-38 others(107): Show c.-3862_-3861insGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGA		HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding					3626		chr12	TogoVar
HMCN1_chr1_185729391_186195949	186005440	A A	ATAAATGT others(89): Show ATAAATGTTTATGAACAATTTTTTAATTGTTTATAAATGTTTATGAACAA TTTTTTAATTGTTTAAATTGTTTATAAATGTTTATAAACAATTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03486.hp2 HG02258.hp1 HG03486.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0004 a0010c0011t0004	a0010c0011t0004g0057 a0010c0011t0004g0058 a0010c0011t0004g0057 a0010c0011t0004g0058	2	87	0.0230	96	c.447 others(115): Show c.4475+1596_4475+1597insTAAATGTTTATGAACAATTTTTTAAT TGTTTATAAATGTTTATGAACAATTTTTTAATTGTTTAAATTGTTTATAA ATGTTTATAAACAATTTTTT		HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	29/106						chr1	TogoVar
HMOX1_chr22_35376096_35399207	35389395	C C	CCTTCCTT others(89): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	276	0.0036	96	c.637 others(111): Show c.637-466_637-465insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTT		HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr22	TogoVar
HNMT_chr2_137959473_138021364	137978605	T T	TATAATAT others(89): Show TATAATATAGTATTATACAATACATATGATTAGATAATATAGTATTATAC AATACATATGATTAGATAATATAGTATTATACAATACATATGATTAG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG03654.hp1 NA18977.hp2 others(1): Show HG01981.hp2 HG03654.hp1 NA18977.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0157 a0001c0001t0001g0183 a0001c0001t0001g0184 others(1): Show a0001c0001t0001g0157 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0002g0254	4	29	0.1379	96	c.190 others(113): Show c.190+8420_190+8515dupGATAATATAGTATTATACAATACATATG ATTAGATAATATAGTATTATACAATACATATGATTAGATAATATAGTATT ATACAATACATATGATTA		HNMT	ENSG00000150540.14	transcript	ENST00000280097.5	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(89): Show TTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC TTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	146	0.0068	96	c.26 others(107): Show c.2619_*2620insTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC TTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC TCTCTCTCTCTC		HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding					1232		chr12	TogoVar
HPCAL1_chr2_10297904_10432604	10399208	G G	GCACCACC others(89): Show GCACCACCACCACCACCACCACCGCCGCTGCCGCTACCACCATCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	279	0.0036	96	c.-25 others(113): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCATCACCACCATCACC ACCACCACCACCACCACC		HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399220	C C	CCACCACC others(89): Show CCACCACCACCGCCGCTGCCGCTACCACCATCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01993.hp2 HG01952.hp1 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0111 a0001c0001t0004g0144 a0001c0001t0004g0111 a0001c0001t0004g0144	2	289	0.0069	96	c.-25 others(113): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACC ACCACCATCACCACCACC		HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
HRCT1_chr9_35901202_35912136	35906598	A A	ACCACCAC others(89): Show ACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCACCAC CCCCGCCACACCCCTCACCACCTCCACCACCACCACCACCACCACCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01978.hp2 HG01978.hp2	a0006 a0006	a0006c0046 a0006c0046	a0006c0046t0001 a0006c0046t0001	a0006c0046t0001g0000 a0006c0046t0001g0000	1	376	0.0027	96	c.316 others(103): Show c.316_317insACCCCCGCCACACCCCTCACCACCTCCACCACCACCAC CACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCACCACCA CCCCCACC	p.His others(109): Show p.His105_Pro106insHisProArgHisThrProHisHisLeuHisHi sHisHisHisHisProArgHisThrProHisHisLeuHisHisHisHisH isHisHisProHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115		INFO_REALIGN_3_PRIME	chr9	TogoVar
HS3ST2_chr16_22809162_22921338	22818951	C C	CTTCCCTC others(89): Show CTTCCCTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCC TCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCTTCA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	212	0.0047	96	c.485 others(113): Show c.485+3860_485+3861insCTCCTTCCTTCCTTCCTTCCTTCCCTCC TTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTT CCTTCCTTCCTTCATTCC		HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr16	TogoVar
HSF1_chr8_144286604_144319720	144313650	C C	CCGCCTCC others(89): Show CCGCCTCCCCGCGCCTCCCCGCCTCCCCGCACCGCCTCCCCGCACCGCCT CCCCGCCTCCCCGCACCGCCTCCCCGCCTCCCCGCACCGCCTCCCCG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	135	0.0074	96	c.124 others(111): Show c.1248+45_1248+46insGCCTCCCCGCCTCCCCGCACCGCCTCCCCG CACCGCCTCCCCGCCTCCCCGCACCGCCTCCCCGCCTCCCCGCACCGCCT CCCCGCGCCTCCCCGC		HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr8	TogoVar
HSF1_chr8_144286604_144319720	144313650	C C	CCGCCTCC others(89): Show CCGCCTCCCCGCGCCTCCCCGCCTCCCCGCACCGCCTCCCCGCACCGCCT CCCCGCCTCCCCGCACCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG00609.hp1 others(22): Show HG00280.hp2 HG00558.hp2 HG00609.hp1 HG01433.hp1 HG01952.hp1 HG02071.hp2 HG02080.hp1 HG02129.hp1 HG02129.hp2 NA18747.hp2 NA18943.hp1 NA18955.hp1 NA18960.hp1 NA18974.hp2 NA18981.hp1 NA18985.hp2 NA18990.hp1 NA18997.hp2 NA18999.hp2 NA19011.hp2 NA19054.hp1 NA19056.hp1 NA19079.hp1 NA19081.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0025 others(16): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0099 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0191 a0001c0001t0001g0207 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269	25	159	0.1572	96	c.124 others(111): Show c.1248+45_1248+46insGCCTCCCCGCCTCCCCGCACCGCCTCCCCG CACCGCCTCCCCGCCTCCCCGCACCGCCTCCCCGCCTCCCCGCCCCGCCT CCCCGCGCCTCCCCGC		HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr8	TogoVar
HTR2C_chrX_114579086_114915061	114807364	T T	TATATCTA others(89): Show TATATCTATACCATGTATATACGCCATATCTATACCATGTATATACGCCA TATCTATACCATATATATACGCCATATATATACCATATATATACGCC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0157 a0002c0002t0001g0157	1	172	0.0058	96	c.350 others(115): Show c.350-40626_350-40625insGTATATACGCCATATCTATACCATGT ATATACGCCATATCTATACCATATATATACGCCATATATATACCATATAT ATACGCCATATCTATACCAT		HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chrX	TogoVar
HTR2C_chrX_114579086_114915061	114807393	C C	CTATACCA others(89): Show CTATACCATGTATATACGCCATATCTATACCATATATATACGCCATATAT ATACCATATATATACGCCATATCTATACCATATATATACGCCATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03453.hp2 HG02809.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0159 a0002c0002t0002g0005 a0002c0002t0001g0159 a0002c0002t0002g0005	2	161	0.0124	96	c.350 others(115): Show c.350-40602_350-40601insGTATATACGCCATATCTATACCATAT ATATACGCCATATATATACCATATATATACGCCATATCTATACCATATAT ATACGCCATATATATACCAT		HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chrX	TogoVar
IFNAR1_chr21_33319970_33364864	33321387	A A	ATATATGG others(89): Show ATATATGGAACCAATACATATATGGAACATATGTATGTGGAACCAATACA TACATGGAACATATGTATGTGGAACCAATACATACATGGAACATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	320	0.0031	96	c.-36 others(107): Show c.-3669_-3668insTATATGGAACCAATACATATATGGAACATATGTA TGTGGAACCAATACATACATGGAACATATGTATGTGGAACCAATACATAC ATGGAACATATG		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					3582		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321777	G G	GGAACCAA others(89): Show GGAACCAATACATATATGGAACATATATATGTGGAACCAATACATATATG CAACATATATATGTGGAACCAATACATATATGGAACATATATATGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18982.hp1 NA19060.hp1 NA18980.hp1 NA18982.hp1 NA19060.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0216 a0002c0002t0002g0235 a0002c0002t0002g0001 a0002c0002t0002g0216 a0002c0002t0002g0235	3	322	0.0093	96	c.-32 others(107): Show c.-3279_-3278insGAACCAATACATATATGGAACATATATATGTGGA ACCAATACATATATGCAACATATATATGTGGAACCAATACATATATGGAA CATATATATGTT		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					3192		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33337718	C C	CATACATA others(89): Show CATACATATACACACATTGTGTATACATACATATACACACATTGTGTATA CATACATATACACACATTGTGTATATATACATATACACACATTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG01515.hp1 others(19): Show HG00099.hp2 HG00323.hp2 HG01515.hp1 HG01975.hp2 HG01978.hp2 HG02145.hp1 HG02300.hp2 HG02622.hp2 HG02698.hp1 HG02717.hp2 HG02965.hp1 HG03139.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG04184.hp1 NA18522.hp2 NA18951.hp2 NA18967.hp2 NA18971.hp2 NA19004.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0001c0001t0001 a0001c0001t0003 a0001c0001t0018	a0001c0001t0001g0183 a0001c0001t0003g0012 a0001c0001t0003g0026 others(15): Show a0001c0001t0001g0183 a0001c0001t0003g0012 a0001c0001t0003g0026 a0001c0001t0003g0032 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0184 a0001c0001t0003g0234 a0001c0001t0018g0170	22	320	0.0688	96	c.200 others(113): Show c.200+2110_200+2111insATTGTGTATACATACATATACACACATT GTGTATATATACATATACACACATTGTGTATACATATACACACATTGTGT ATACATACATATACACAC		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
IGF2R_chr6_159964082_160116504	159980215	G G	GAAAGAAA others(89): Show GAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0001 a0002c0028t0001	a0002c0028t0001g0263 a0002c0028t0001g0263	1	301	0.0033	96	c.149 others(115): Show c.149+10830_149+10831insGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGAAAAGAAAGAA		IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	1/47					INFO_REALIGN_3_PRIME	chr6	TogoVar
IK_chr5_140642829_140667480	140648007	G G	GGTGTGTG others(89): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	213	0.0047	96	c.16+ others(109): Show c.16+121_16+122insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGT		IK	ENSG00000113141.19	transcript	ENST00000417647.7	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
IL1RAPL1_chrX_28582446_29961718	29568116	T T	TATTTAAA others(89): Show TATTTAAAGATCAAAAATAACAGATTATTCTTGATTTAAAGATCAAGAAT AACAGATTATTCTTGATTTAAAGATCAAGAATAACAGATTATTCTTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	14	0.0714	96	c.704 others(117): Show c.704-100301_704-100300insAAATAACAGATTATTCTTGATTTA AAGATCAAGAATAACAGATTATTCTTGATTTAAAGATCAAGAATAACAGA TTATTCTTGATTTAAAGATCAA		IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	5/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL1_chrX_28582446_29961718	29568116	T T	TATTTAAA others(89): Show TATTTAAAGATCAAGAATAACAGATTATTCTTGATTTAAAGATCAAGAAT AACAGATTATTCTTGATTTAAAGATCAAGAATAACAGATTATTCTTG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	14	0.0714	96	c.704 others(117): Show c.704-100188_704-100093dupTTGATTTAAAGATCAAGAATAACA GATTATTCTTGATTTAAAGATCAAGAATAACAGATTATTCTTGATTTAAA GATCAAGAATAACAGATTATTC		IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	5/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL1_chrX_28582446_29961718	29568187	A A	AGATCAAG others(89): Show AGATCAAGAATAACAGATTATTCTTGATTTAAGGATCAAGAATAACAGAT TATTCTTGATTTAAGGATCAAGAATAACAGATTATTCTTGATTTAAG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	124	0.0081	96	c.704 others(117): Show c.704-100212_704-100211insGGATCAAGAATAACAGATTATTCT TGATTTAAGGATCAAGAATAACAGATTATTCTTGATTTAAGGATCAAGAA TAACAGATTATTCTTGATTTAA		IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	5/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL1_chrX_28582446_29961718	29568219	A A	AGATCAAG others(89): Show AGATCAAGAATAACAGATTATTCTTGATTTAAGGATCAAGAATAACAGAT TATTCTTGATTTAAGGATCAAGAATAACAGATTATTCTTGATTTAAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp1 HG02698.hp1 HG00408.hp1 HG00621.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0118 a0001c0001t0002g0044 a0001c0001t0005g0084 a0001c0001t0001g0118 a0001c0001t0002g0044 a0001c0001t0005g0084	3	119	0.0252	96	c.704 others(117): Show c.704-100180_704-100179insGGATCAAGAATAACAGATTATTCT TGATTTAAGGATCAAGAATAACAGATTATTCTTGATTTAAGGATCAAGAA TAACAGATTATTCTTGATTTAA		IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	5/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL1_chrX_28582446_29961718	29568251	A A	AGATCAAG others(89): Show AGATCAAGAATAACAGATTATTCTTGATTTAAGGATCAAGAATAACAGAT TATTCTTGATTTAAGGATCAAGAATAACAGATTATTCTTGATTTAAG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	115	0.0087	96	c.704 others(117): Show c.704-100148_704-100147insGGATCAAGAATAACAGATTATTCT TGATTTAAGGATCAAGAATAACAGATTATTCTTGATTTAAGGATCAAGAA TAACAGATTATTCTTGATTTAA		IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	5/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL1_chrX_28582446_29961718	29568283	A A	AGATCAAG others(89): Show AGATCAAGAATAACAGATTATTCTTGATTTAAAGATCAAGAATAACAGAT TATTCTTGATTTAAAGATCAAGAATAACAGATTATTCTTGATTTAAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0073 a0001c0001t0006g0073	1	112	0.0089	96	c.704 others(117): Show c.704-100093_704-100092insTTGATTTAAAGATCAAGAATAACA GATTATTCTTGATTTAAGGATCAAGAATAACAGATTATTCTTGATTTAAA GATCAAGAATAACAGATTATTC		IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	5/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL1_chrX_28582446_29961718	29568329	A A	AGATTATT others(89): Show AGATTATTCTTGATTTAAGGATCAAGAATAACAGATTATTCTTGATTTAA GGATCAAGAATAACAGATTATTCTTGATTTAAGGATCAAGAATAACG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0008 a0001c0001t0006g0008	1	135	0.0074	96	c.704 others(117): Show c.704-100093_704-100092insTTGATTTAAGGATCAAGAATAACA GATTATTCTTGATTTAAGGATCAAGAATAACAGATTATTCTTGATTTAAG GATCAAGAATAACGGATTATTC		IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	5/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1360854	C C	CCTGTCTC others(89): Show CCTGTCTCTCTCTCCCTTCCCCTCCCTGTCTCTCTCTCCCTTCCCCTCTC TGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	108	0.0093	96	c.759 others(113): Show c.759+1990_759+1991insCCTGTCTCTCTCTCCCTTCCCCTCTCTG TCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTC TCTCTCTCCCTTCCCCTC		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1361016	C C	CCTCTGTC others(89): Show CCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTC TCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01167.hp2 HG01346.hp2 others(6): Show HG00558.hp2 HG01167.hp2 HG01346.hp2 NA18940.hp2 NA18970.hp2 NA19000.hp2 NA19066.hp2 NA19080.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0046 others(6): Show a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0055 a0001c0001t0002g0065 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0003t0001g0110	9	48	0.1875	96	c.759 others(113): Show c.759+2173_759+2268dupCCCCTCTCTGTCTCTCTCTCCCTTCCCC TCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTC TCTGTCTCTCTCTCCCTT		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IMMP2L_chr7_110657644_111567492	110844693	T T	TAGCGCAC others(89): Show TAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATG TGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03225.hp2 HG03471.hp2 others(5): Show HG02809.hp1 HG03225.hp2 HG03471.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 others(3): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0016 a0001c0002t0002 a0001c0002t0006	a0001c0001t0004g0060 a0001c0001t0005g0068 a0001c0001t0005g0075 others(5): Show a0001c0001t0004g0060 a0001c0001t0005g0068 a0001c0001t0005g0075 a0001c0001t0005g0077 a0001c0001t0009g0081 a0001c0001t0016g0076 a0001c0002t0002g0066 a0001c0002t0006g0065	8	46	0.1739	96	c.408 others(115): Show c.408+41899_408+41900insTTTTTTTTTTTTTTTTATTATACTCT AAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATAC ATGTGCCATGCTGGTGCGCT		IMMP2L	ENSG00000184903.10	transcript	ENST00000405709.7	protein_coding	5/5						chr7	TogoVar
INPP4B_chr4_142018160_142851301	142720733	T T	TATATATA others(89): Show TATATATATATACATATATACATAAATATATATATATATACATATATATA TATATATACATATATATATAAATATATATATATACATATATATATAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0014 a0001c0002t0010g0014	1	41	0.0244	96	c.-19 others(115): Show c.-191+5105_-191+5106insTTATATATATATGTATATATATATAT TTATATATATATGTATATATATATATATATGTATATATATATATATTTAT GTATATATGTATATATATAT		INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	2/25						chr4	TogoVar
INTS11_chr1_1306600_1329660	1324067	A A	AGGGGCTG others(89): Show AGGGGCTGAGGGGCTGGGAGGCTGAGAGGCTGGGGAGCTGGGGGGCTGAG GGTCTGCGGGGCTGAGGGGCTGGGGGGCTGGGAGGCTGAGAGGCTGG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0156 a0001c0002t0001g0156	1	345	0.0029	96	c.28+ others(109): Show c.28+513_28+514insCCAGCCTCTCAGCCTCCCAGCCCCCCAGCCCC TCAGCCCCGCAGACCCTCAGCCCCCCAGCTCCCCAGCCTCTCAGCCTCCC AGCCCCTCAGCCCC		INTS11	ENSG00000127054.22	transcript	ENST00000435064.6	protein_coding	1/16						chr1	TogoVar
IPCEF1_chr6_154149496_154361803	154354415	A A	ACCTCCAC others(89): Show ACCTCCACCACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTC CTCCACCACCACCTCCACCATCTCCTCCACAACCACCTCCACCATCT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00735.hp1 HG00738.hp2 others(14): Show HG00609.hp2 HG00735.hp1 HG00738.hp2 HG01943.hp2 HG01981.hp2 HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02735.hp1 HG02738.hp2 HG03209.hp1 HG03942.hp2 HG04204.hp1 NA18969.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0023 a0001c0001t0001g0108 a0001c0001t0001g0118 others(14): Show a0001c0001t0001g0023 a0001c0001t0001g0108 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0151 a0001c0001t0001g0163 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0002g0120 a0001c0001t0003g0123 a0001c0001t0003g0126 a0001c0001t0004g0083 a0001c0001t0007g0169	17	163	0.1043	96	c.-62 others(113): Show c.-62+2256_-62+2257insAGATGGTGGAGGTGGTTGTGGAGGAGAT GGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGG TGGAGGTGGTGGTGGAGG		IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	1/11						chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154354415	A A	ACCTCCAC others(89): Show ACCTCCACCACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTC CTCCACCACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01175.hp1 HG02886.hp1 HG00140.hp1 HG01175.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0024 a0001c0001t0001 a0001c0001t0004 a0001c0002t0024	a0001c0001t0001g0136 a0001c0001t0004g0008 a0001c0002t0024g0093 a0001c0001t0001g0136 a0001c0001t0004g0008 a0001c0002t0024g0093	3	149	0.0201	96	c.-62 others(113): Show c.-62+2256_-62+2257insAGATGGTGGAGGTGGTGGTGGAGGAGAT GGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGG TGGAGGTGGTGGTGGAGG		IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	1/11						chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154354447	C C	CACCACCT others(89): Show CACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCCACAA CCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCCACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01256.hp2 HG01258.hp1 others(7): Show HG00099.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01515.hp1 HG01517.hp2 HG01891.hp2 HG02280.hp2 HG03017.hp2 HG03471.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0002t0001 a0001c0002t0004 a0001c0002t0019 a0003c0004t0004	a0001c0001t0001g0063 a0001c0001t0002g0062 a0001c0001t0002g0070 others(7): Show a0001c0001t0001g0063 a0001c0001t0002g0062 a0001c0001t0002g0070 a0001c0001t0006g0068 a0001c0001t0012g0061 a0001c0002t0001g0065 a0001c0002t0004g0064 a0001c0002t0019g0069 a0003c0004t0004g0066 a0003c0004t0004g0067	10	209	0.0478	96	c.-62 others(113): Show c.-62+2224_-62+2225insTGTGGAGGAGATGGTGGAGGTGGTGGTG GAGGAGATGGTGGAGGTGGTTGTGGAGGAGATGGTGGAGGTGGTGGTGGA GGAGATGGTGGAGGTGGT		IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	1/11						chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154354447	C C	CACCACCT others(89): Show CACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCCACCA CCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCCACA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18993.hp1 NA18982.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0033 a0001c0001t0006g0032 a0001c0001t0001g0033 a0001c0001t0006g0032	2	201	0.0100	96	c.-62 others(113): Show c.-62+2224_-62+2225insTGTGGAGGAGATGGTGGAGGTGGTGGTG GAGGAGATGGTGGAGGTGGTGGTGGAGGAGATGGTGGAGGTGGTGGTGGA GGAGATGGTGGAGGTGGT		IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	1/11						chr6	TogoVar
IPO11_chr5_62407763_62633582	62435144	G G	GTATATAT others(89): Show GTATATATATGTATATATATGTATATATATGTATATATATGTATATATAT GTGTATATATATGTATATATATGTATATATATGTATATATATGTGTA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0157 a0001c0003t0001g0157	1	248	0.0040	96	c.-6- others(111): Show c.-6-2123_-6-2122insATGTATATATATGTATATATATGTATATAT ATGTATATATATGTGTATATATATGTATATATATGTATATATATGTATAT ATATGTGTATATATAT		IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr5	TogoVar
IQCM_chr4_149346709_149820843	149358844	C C	CAGTATAT others(89): Show CAGTATATCATGATATACTCTCATGAGTATATCATGATATACTCTCATGA GTATATCATGATATACTCTCATGAGTATATCATGATATACTCTCATG	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18988.hp1 NA19084.hp2 HG02129.hp1 NA18988.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0054 a0001c0001t0002g0154 a0001c0001t0002g0023 a0001c0001t0002g0054 a0001c0001t0002g0154	3	186	0.0161	96	c.139 others(115): Show c.1391-6779_1391-6778insCATGAGAGTATATCATGATATACTCA TGAGAGTATATCATGATATACTCATGAGAGTATATCATGATATACTCATG AGAGTATATCATGATATACT		IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	13/13						chr4	TogoVar
IQGAP2_chr5_76398285_76713132	76699615	C C	CTCTCTCT others(89): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACTCTCGTGCT CTCTCTCTCTCCATATATAGTTCATTTGCTTCAGGCTTCTCTCTGTT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0080 a0001c0002t0004g0080	1	218	0.0046	96	c.436 others(115): Show c.4368-1423_4368-1422insACTCTCGTGCTCTCTCTCTCTCCATA TATAGTTCATTTGCTTCAGGCTTCTCTCTGTTTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTC		IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	33/35					INFO_REALIGN_3_PRIME	chr5	TogoVar
ISYNA1_chr19_18429388_18443133	18440884	G G	GGGGCCCC others(89): Show GGGGCCCCTGGCAGGTGGCAGGAGAGGGTTTAACAGCTCTGAGCCCCTCT CTACCAGGGTGCCCAGGTCATGAGGGTGGGAAGGCTCTCCTGAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	306	0.0033	96	c.-28 others(107): Show c.-2802_-2801insATATTCAGGAGAGCCTTCCCACCCTCATGACCTG GGCACCCTGGTAGAGAGGGGCTCAGAGCTGTTAAACCCTCTCCTGCCACC TGCCAGGGGCCC		ISYNA1	ENSG00000105655.19	transcript	ENST00000338128.13	protein_coding					2752		chr19	TogoVar
ITGA11_chr15_68291532_68437163	68400639	A A	ATATTATA others(89): Show ATATTATATATTATATAATAAATATTATATTATATATTATATAATAAATA TTATATTATTATATATTATATTATATATTATATAATAAATATTATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02129.hp2 HG02132.hp2 others(3): Show HG00597.hp2 HG02129.hp2 HG02132.hp2 NA18941.hp2 NA18959.hp1 NA18964.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0055 others(2): Show a0001c0001 a0001c0002 a0002c0055 a0003c0009 a0004c0010	a0001c0001t0001 a0001c0002t0034 a0002c0055t0001 others(2): Show a0001c0001t0001 a0001c0002t0034 a0002c0055t0001 a0003c0009t0001 a0004c0010t0001	a0001c0001t0001g0067 a0001c0002t0034g0077 a0002c0055t0001g0199 others(3): Show a0001c0001t0001g0067 a0001c0002t0034g0077 a0002c0055t0001g0199 a0003c0009t0001g0079 a0004c0010t0001g0092 a0004c0010t0001g0110	6	238	0.0252	96	c.164 others(113): Show c.164+2278_164+2279insATATAATATTTATTATATAATATATAAT ATAATATATAATAATATAATATTTATTATATAATATATAATATAATATTT ATTATATAATATATAATA		ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29						chr15	TogoVar
ITGA3_chr17_50051110_50095481	50085854	G G	GTATATTA others(89): Show GTATATTAGATTATACATTATAGATTTATAATGTATATTAGATTATACAT TATAGATTTATAATGTATATTAGATTATACATTATAGATTTATAATA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0111 a0002c0002t0003g0111	1	396	0.0025	96	c.292 others(115): Show c.2920-1842_2920-1841insTTATAGATTTATAATGTATATTAGAT TATACATTATAGATTTATAATATATATTAGATTATACATTATAGATTTAT AATGTATATTAGATTATACA		ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25					INFO_REALIGN_3_PRIME	chr17	TogoVar
ITGA3_chr17_50051110_50095481	50085886	G G	GTATATTA others(89): Show GTATATTAGATTATACATTATAGATTTATAATATATATTAGATTATACAT TATAGATTTATAATATATATTAGATTATACATTATAGATTTATAATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0015 a0001c0013t0015	a0001c0013t0015g0038 a0001c0013t0015g0038	1	177	0.0056	96	c.292 others(115): Show c.2920-1842_2920-1841insTTATAGATTTATAATATATATTAGAT TATACATTATAGATTTATAATATATATTAGATTATACATTATAGATTTAT AATATATATTAGATTATACA		ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25					INFO_REALIGN_3_PRIME	chr17	TogoVar
ITGA3_chr17_50051110_50095481	50085886	G G	GTATATTA others(89): Show GTATATTAGATTATACATTATAGATTTATAATGTATATTAGATTATACAT TATAGATTTATAATATATATTAGATTATACATTATAGATTTATAATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00438.hp2 others(64): Show HG00280.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG01070.hp2 HG01192.hp2 HG01255.hp1 HG01261.hp2 HG01433.hp1 HG01884.hp2 HG01928.hp2 HG02015.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02165.hp1 HG02257.hp1 HG02293.hp1 HG03654.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG04115.hp2 HG04228.hp2 NA18939.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18950.hp1 NA18951.hp2 NA18955.hp2 NA18959.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp2 NA18974.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18991.hp2 NA18993.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19056.hp1 NA19059.hp1 NA19060.hp2 NA19068.hp1 NA19075.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0011	a0001c0003 a0001c0005 a0002c0002 others(3): Show a0001c0003 a0001c0005 a0002c0002 a0003c0006 a0006c0017 a0011c0012	a0001c0003t0006 a0001c0005t0003 a0002c0002t0003 others(4): Show a0001c0003t0006 a0001c0005t0003 a0002c0002t0003 a0003c0006t0003 a0003c0006t0014 a0006c0017t0003 a0011c0012t0003	a0001c0003t0006g0047 a0001c0005t0003g0025 a0001c0005t0003g0280 others(58): Show a0001c0003t0006g0047 a0001c0005t0003g0025 a0001c0005t0003g0280 a0001c0005t0003g0337 a0001c0005t0003g0339 a0002c0002t0003g0002 a0002c0002t0003g0009 a0002c0002t0003g0010 a0002c0002t0003g0011 a0002c0002t0003g0013 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0056 a0002c0002t0003g0062 a0002c0002t0003g0063 a0002c0002t0003g0065 a0002c0002t0003g0066 a0002c0002t0003g0067 a0002c0002t0003g0068 a0002c0002t0003g0069 a0002c0002t0003g0070 a0002c0002t0003g0076 a0002c0002t0003g0079 a0002c0002t0003g0080 a0002c0002t0003g0088 a0002c0002t0003g0091 a0002c0002t0003g0092 a0002c0002t0003g0093 a0002c0002t0003g0095 a0002c0002t0003g0097 a0002c0002t0003g0100 a0002c0002t0003g0101 a0002c0002t0003g0102 a0002c0002t0003g0104 a0002c0002t0003g0105 a0002c0002t0003g0106 a0002c0002t0003g0107 a0002c0002t0003g0109 a0002c0002t0003g0110 a0002c0002t0003g0113 a0002c0002t0003g0114 a0002c0002t0003g0115 a0002c0002t0003g0116 a0002c0002t0003g0117 a0002c0002t0003g0118 a0002c0002t0003g0120 a0002c0002t0003g0122 a0002c0002t0003g0123 a0002c0002t0003g0124 a0002c0002t0003g0125 a0002c0002t0003g0128 a0002c0002t0003g0129 a0002c0002t0003g0135 a0002c0002t0003g0138 a0002c0002t0003g0141 a0002c0002t0003g0144 a0003c0006t0003g0361 a0003c0006t0003g0362 a0003c0006t0014g0081 a0006c0017t0003g0013 a0011c0012t0003g0136	67	243	0.2757	96	c.292 others(115): Show c.2920-1842_2920-1841insTTATAGATTTATAATGTATATTAGAT TATACATTATAGATTTATAATATATATTAGATTATACATTATAGATTTAT AATATATATTAGATTATACA		ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25					INFO_REALIGN_3_PRIME	chr17	TogoVar
ITGA3_chr17_50051110_50095481	50085886	G G	GTATATTA others(89): Show GTATATTAGATTATACATTATAGATTTATAATGTATATTAGATTATACAT TATAGATTTATAATGTATATTAGATTATACATTATAGATTTATAATA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03017.hp1 HG03491.hp2 others(7): Show HG02698.hp2 HG03017.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03927.hp2 HG04199.hp2 NA20905.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0025 a0002c0002 a0009c0025	a0002c0002t0003 a0002c0002t0007 a0009c0025t0003 a0002c0002t0003 a0002c0002t0007 a0009c0025t0003	a0002c0002t0003g0098 a0002c0002t0003g0139 a0002c0002t0003g0140 others(6): Show a0002c0002t0003g0098 a0002c0002t0003g0139 a0002c0002t0003g0140 a0002c0002t0007g0012 a0002c0002t0007g0090 a0002c0002t0007g0119 a0002c0002t0007g0121 a0002c0002t0007g0127 a0009c0025t0003g0112	10	186	0.0538	96	c.292 others(115): Show c.2920-1842_2920-1841insTTATAGATTTATAATGTATATTAGAT TATACATTATAGATTTATAATGTATATTAGATTATACATTATAGATTTAT AATATATATTAGATTATACA		ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25					INFO_REALIGN_3_PRIME	chr17	TogoVar
ITGA3_chr17_50051110_50095481	50085886	G G	GTATATTA others(89): Show GTATATTAGATTATACATTATAGATTTATAATGTATATTAGATTATACTT TATAGATTTATAATATATATTAGATTATACATTATAGATTTATAATA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01175.hp1 HG03491.hp1 others(1): Show HG00733.hp2 HG01175.hp1 HG03491.hp1 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0009 a0002c0002t0021 a0002c0002t0003 a0002c0002t0009 a0002c0002t0021	a0002c0002t0003g0096 a0002c0002t0003g0248 a0002c0002t0009g0089 others(1): Show a0002c0002t0003g0096 a0002c0002t0003g0248 a0002c0002t0009g0089 a0002c0002t0021g0108	4	180	0.0222	96	c.292 others(115): Show c.2920-1842_2920-1841insTTATAGATTTATAATGTATATTAGAT TATACTTTATAGATTTATAATATATATTAGATTATACATTATAGATTTAT AATATATATTAGATTATACA		ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25					INFO_REALIGN_3_PRIME	chr17	TogoVar
ITGA3_chr17_50051110_50095481	50085886	G G	GTATATTA others(89): Show GTATATTAGATTATACATTATAGATTTATAATGTATATTAGATTATACTT TATAGATTTATAATGTATATTAGATTATACATTATAGATTTATAATA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02735.hp2 HG02683.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0086 a0002c0002t0003g0087 a0002c0002t0003g0086 a0002c0002t0003g0087	2	178	0.0112	96	c.292 others(115): Show c.2920-1842_2920-1841insTTATAGATTTATAATGTATATTAGAT TATACTTTATAGATTTATAATGTATATTAGATTATACATTATAGATTTAT AATATATATTAGATTATACA		ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25					INFO_REALIGN_3_PRIME	chr17	TogoVar

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