Joint Open Genome and Omics Platform (JoGo)

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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
ERBB3_chr12_56075165_56108505	56091334	A A	ATATATAT others(176): Show ATATATATAAATATAAATATATGTTACAAATATATATTATAAATATAAAC ATATAAATATATATTATATATAAATATATATATATGTTTATATTTATAAT ATATATTTGTAACATATATTTATATTTATATATAAATTTATATATATAAA ATATATATATATTTATATAAAATATATATATATT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0253 a0001c0001t0004g0253	1	17	0.0588	183	c.111 others(202): Show c.1110-1399_1110-1398insAATATATGTTACAAATATATATTATA AATATAAACATATAAATATATATTATATATAAATATATATATATGTTTAT ATTTATAATATATATTTGTAACATATATTTATATTTATATATAAATTTAT ATATATAAAATATATATATATTTATATAAAATATATATATATTTATATAT AAATATA		ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding	9/27					INFO_REALIGN_3_PRIME	chr12	TogoVar
EREG_chr4_74360145_74393749	74381825	A A	AATTAGCC others(176): Show AATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCG GAGATCGCGCCACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCT CAAAAAAAAAACAAAAAAAACAAAAAAAACAAAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18522.hp2 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0107 a0001c0001t0016g0162 a0001c0001t0016g0107 a0001c0001t0016g0162	2	356	0.0056	183	c.278 others(198): Show c.278+689_278+690insTTAGCCGGGCGCAGTGGCGGGCGCCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGG CGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCACTCCCGCCTGGGCGA CAGAACGAGACTCCGTCTCAAAAAAAAAACAAAAAAAACAAAAAAAACAA ACA		EREG	ENSG00000124882.4	transcript	ENST00000244869.3	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr4	TogoVar
EVA1C_chr21_32407706_32520387	32477760	T T	TCACCTCC others(176): Show TCACCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCG TACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCC TCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTC CCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	344	0.0029	183	c.634 others(200): Show c.634+9913_634+9914insACCTCCCCCGTACGCCCTCCCCTCCCCC GTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCC CTCACCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCC GTACGCCCTCCCCTCCCCTCCCCCCGTACGCCCTCCCCTCCCCCGTACGC CCTCC		EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr21	TogoVar
EXOC4_chr7_133248078_134070761	133896831	A A	ATTTTTGT others(176): Show ATTTTTGTTTTTTTTTTGTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTATGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	30	0.0333	183	c.187 others(202): Show c.1871+1103_1871+1104insTTTTTTTTTGTTTTTTTTTTTTTTTT GAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAAT TTTTTGT		EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133896831	A A	ATTTTTGT others(176): Show ATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTATGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	30	0.0333	183	c.187 others(202): Show c.1871+1103_1871+1104insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAAT TTTTTGT		EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr7	TogoVar
EYA4_chr6_133236357_133537128	133410619	T T	TAGAACTA others(176): Show TAGAACTAAGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02015.hp1 HG01433.hp2 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0031 a0001c0001t0003 a0001c0001t0031	a0001c0001t0003g0158 a0001c0001t0031g0173 a0001c0001t0003g0158 a0001c0001t0031g0173	2	208	0.0096	183	c.83+ others(200): Show c.83+28192_83+28193insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGAGAACTAAG GTCTT		EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170377624	A A	CGGCTCAC others(176): Show CGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCC CGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAA TCCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACA CGCGTCCCTAATCCCAGACGCCCGGGAGAACACA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0137 a0002c0003t0002g0137	1	279	0.0036	183	c.228 others(204): Show c.2284-10664_2284-10663insCGGCTCACGCTGCTCGGTGCTGTG CACACGCGTCCCTAATCCCAGACGCCCGGGAGAACACAGGCTCACGCTGC TCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCGGGAGAACACAG GCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCG GGAGAACAC		FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	6/10						chr6	TogoVar
FAM120B_chr6_170301758_170412067	170377914	C C	CGCCCGGG others(176): Show CGCCCGGGAGAGCACCGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCC CTAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTG CACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTGC TCGGTGCTGTGCACACGCGTCCCTAATCCCAGAT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0072 a0001c0002t0004g0072	1	152	0.0066	183	c.228 others(204): Show c.2284-10370_2284-10369insCGGGAGAGCACCGGCTCACGCTGC TCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAG GCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCG GGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATC CCAGATGCC		FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM135A_chr6_70408508_70566174	70538917	C C	CTTTTTTT others(176): Show CTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0255 a0001c0002t0002g0255	1	254	0.0039	183	c.422 others(200): Show c.4228+517_4228+518insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAA TTTTT		FAM135A	ENSG00000082269.17	transcript	ENST00000418814.7	protein_coding	20/21					INFO_REALIGN_3_PRIME	chr6	TogoVar
FBN2_chr5_128252909_128543245	128540035	T T	TATATCAT others(176): Show TATATCATATATCATATATATCATATATCAATCATATATATCATATATCA TATATCATATATATCATATATCATATATCATATATATCATATATCATATA TCATATATATCATATATATCATATATATCATATATATCATATATCATATA TCATATATCATATATATCATATATATCATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0014 a0001c0014t0014	a0001c0014t0014g0111 a0001c0014t0014g0111	1	229	0.0044	183	c.-24 others(194): Show c.-2433_-2432insGATATATGATATATATGATATATATGATATATGA TATATGATATATGATATATATGATATATATGATATATATGATATATATGA TATATGATATATGATATATATGATATATGATATATGATATATATGATATA TGATATATGATATATATGATTGATATATGATATATATGATATATGATAT		FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding					1791		chr5	TogoVar
FGFR4_chr5_177081915_177103144	177096905	T T	TTCCTCCT others(176): Show TTCCTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCT CCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCC TCTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCCTCCTTCTCTTCCTCCTC CTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	220	0.0045	183	c.215 others(200): Show c.2153+175_2153+176insCTCTTCCTCCTCCTCTTCCTCCTCCTCC TCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTC CTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCCTCCTTCT CTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCCTCC TCCTC		FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr5	TogoVar
FHAD1_chr1_15242223_15403328	15388335	C C	CCCCTCCC others(176): Show CCCCTCCCCAGCCCCTGCCCCACCTCCCTCCCTCCCTCCCTCCCTCCTTC CCTTCCCTCCCCAGTCCCTGTCCAACCTCCCTCCCTCCCTCCCTCCTCCC TCCCTCCCTTCCCTCCCCAGTCCCTGCCCCACCTCCCTCCCTCCCTTCCC TCCTCAGGCCCTGCCCCACCTCCCTCCCTCCATT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0065 a0065	a0065c0088 a0065c0088	a0065c0088t0022 a0065c0088t0022	a0065c0088t0022g0245 a0065c0088t0022g0245	1	121	0.0083	183	c.426 others(200): Show c.4269+214_4269+215insCCCCTGCCCCACCTCCCTCCCTCCCTCC CTCCCTCCTTCCCTTCCCTCCCCAGTCCCTGTCCAACCTCCCTCCCTCCC TCCCTCCTCCCTCCCTCCCTTCCCTCCCCAGTCCCTGCCCCACCTCCCTC CCTCCCTTCCCTCCTCAGGCCCTGCCCCACCTCCCTCCCTCCATTCCCTC CCCAG		FHAD1	ENSG00000142621.21	transcript	ENST00000688493.1	protein_coding	32/33					INFO_REALIGN_3_PRIME	chr1	TogoVar
FHAD1_chr1_15242223_15403328	15388335	C C	CCCCTCCC others(176): Show CCCCTCCCCCAAGCCCCTGCCCCACCTCCCTCCCTCCCTCCCTCCTTCCC TTCCCTCCCCAGTCCCTGTCCAACCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTTCCCTCCCCAGTCCCTGCCCCACCTCCCTCCCTCCCCTTCCC TCCCCAGGCCCTGCCCCACCTCCCTCCCTCCATT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0073 a0004c0004t0004g0073	1	121	0.0083	183	c.426 others(200): Show c.4269+212_4269+213insCAAGCCCCTGCCCCACCTCCCTCCCTCC CTCCCTCCTTCCCTTCCCTCCCCAGTCCCTGTCCAACCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTTCCCTCCCCAGTCCCTGCCCCACCTCCCT CCCTCCCCTTCCCTCCCCAGGCCCTGCCCCACCTCCCTCCCTCCATTCCC TCCCC		FHAD1	ENSG00000142621.21	transcript	ENST00000688493.1	protein_coding	32/33					INFO_REALIGN_3_PRIME	chr1	TogoVar
FLT3_chr13_27998274_28105576	28065534	C C	CGGGAGGC others(176): Show CGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCTAGGAGGTTGAGGCTGAA GTGAGCTATGTTTGTGTCACTGCACTCCAGCCTGGACAACGGAGCGAGAT CTTGTCTCAAAGTAATAATAATAATAATAATAATAATAATAATAATCCAG GTGTGGTGGCTCACGCCTGTAATCCCAGCACTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG02965.hp2 HG00673.hp1 HG00673.hp2 HG02965.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0005 a0001c0001 a0001c0004 a0004c0005	a0001c0001t0002 a0001c0004t0002 a0004c0005t0001 a0001c0001t0002 a0001c0004t0002 a0004c0005t0001	a0001c0001t0002g0068 a0001c0004t0002g0149 a0004c0005t0001g0264 a0001c0001t0002g0068 a0001c0004t0002g0149 a0004c0005t0001g0264	3	288	0.0104	183	c.166 others(200): Show c.166-3466_166-3465insAAAGTGCTGGGATTACAGGCGTGAGCCA CCACACCTGGATTATTATTATTATTATTATTATTATTATTATTACTTTGA GACAAGATCTCGCTCCGTTGTCCAGGCTGGAGTGCAGTGACACAAACATA GCTCACTTCAGCCTCAACCTCCTAGGCTCAAGCAATCCTCCTGCCTCAGC CTCCC		FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding	2/23						chr13	TogoVar
FLT3_chr13_27998274_28105576	28065648	A A	ATAATAAT others(176): Show ATAATAATAATAATAATAATAATAATAATAATAATCCAGGTGTGGTGGCT CACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATTGCTTG AGCCTAGGAGGTTGAGGCTGAAGTGAGCTATGTTTGTGTCACTGCACTCC AGCCTGGACAACGGAGCGAGATCTTGTCTCAAAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA20905.hp1 HG00597.hp2 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0002 a0004c0005t0001 a0001c0001t0002 a0004c0005t0001	a0001c0001t0002g0095 a0004c0005t0001g0217 a0001c0001t0002g0095 a0004c0005t0001g0217	2	163	0.0123	183	c.166 others(200): Show c.166-3762_166-3580dupCTTTGAGACAAGATCTCGCTCCGTTGTC CAGGCTGGAGTGCAGTGACACAAACATAGCTCACTTCAGCCTCAACCTCC TAGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCACACCTGGATTATTATTATTATTATTATTATTATTAT TATTA		FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding	2/23						chr13	TogoVar
FLT3_chr13_27998274_28105576	28065680	A A	AATCCAGG others(176): Show AATCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTG AGGCAGGAGGATTGCTTGAGCCTAGGAGGTTGAGGCTGAAGTGAGCTATG TTTGTGTCACTGCACTCCAGCCTGGACAACGGAGCGAGATCTTGTCTCAA AGTAATAATAATAATAATAATAATAATAATAATC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0258 a0004c0005t0001g0258	1	290	0.0034	183	c.166 others(200): Show c.166-3612_166-3611insGATTATTATTATTATTATTATTATTATT ATTACTTTGAGACAAGATCTCGCTCCGTTGTCCAGGCTGGAGTGCAGTGA CACAAACATAGCTCACTTCAGCCTCAACCTCCTAGGCTCAAGCAATCCTC CTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACC TGGAT		FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding	2/23						chr13	TogoVar
FOXN3_chr14_89151177_89422233	89361364	C C	CACCTCCA others(176): Show CACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCA CCTCCAGCACCACCTCCAGCACTACCTCCACCACCTCCAGCACCACCTCC AGCACTACCTCCACCACCACCTCCACCACCTCCAGCACCACCTCCACCAC CACCTCCACCACCTCCAGCACCACCTCCAGCACT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0008 a0001c0001t0026g0008	1	226	0.0044	183	c.544 others(202): Show c.544-10557_544-10556insAGTGCTGGAGGTGGTGCTGGAGGTGG TGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTGGAGGTGGTGGTGGAG GTAGTGCTGGAGGTGGTGCTGGAGGTGGTGGAGGTAGTGCTGGAGGTGGT GCTGGAGGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTAGTGG TGGAGGT		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FTCD_chr21_46131779_46160579	46145767	C C	CCGCCCTC others(176): Show CCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCGCCCTCCCCTT CCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCGCC CTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCTTCCCCCCACCC CGCGCTCCCCCCAACAGCGCCCTCCCCCCAACAG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0201 a0002c0004t0004g0201	1	170	0.0059	183	c.109 others(198): Show c.1098+50_1098+51insCTGTTGGGGGGAGGGCGCTGTTGGGGGGAG CGCGGGGTGGGGGGAAGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGG GGAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAG GGGGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGG GCG		FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13						chr21	TogoVar
GAL3ST2_chr2_241771822_241809287	241806645	A A	ACCCTCCC others(176): Show ACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	214	0.0047	183	c.24 others(194): Show c.2479_*2480insCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCT		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2359		chr2	TogoVar
GALR1_chr18_77244848_77282900	77252881	T T	TCATCACC others(176): Show TCATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCATCAC CACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCA TCACCACCATCACCACCACCACCATCACCACCAC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	326	0.0031	183	c.666 others(200): Show c.666+1669_666+1670insTCACCACCACCACCATCACCACCACCAC CACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCA CCACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCACC ACCATCACCACCACCACCATCACCACCATCACCACCACCACCATCACCAC CACCA		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
GPRIN1_chr5_176590802_176615156	176591710	T T	TTGTTGAG others(176): Show TTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTG ATGATGACGATGGTGGTGGTGGTGGTGGTGTTGGTGTTGAGGTGATGGTG ATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATG GTGATGGTTGTGATGGTGATGGTGGTGATGATGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG06807.hp2 HG01884.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0011 a0001c0001t0005g0011	2	393	0.0051	183	c.50 others(194): Show c.5097_*5098insCCATCATCACCACCATCACCATCACAACCATCAC CATCACCTCAACACCAACACCATCATCACCACCATCACCATCACAACCAT CACCATCACCTCAACACCAACACCACCACCACCACCACCATCGTCATCAT CACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAACA		GPRIN1	ENSG00000169258.7	transcript	ENST00000303991.5	protein_coding					4091		chr5	TogoVar
GRAMD4_chr22_46615386_46684785	46635159	G G	GCCACTCC others(176): Show GCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCCGGCCA CTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCCAGCCACTCC TGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGCCACTCCTGTC TTGGGGAGCCGTGTCCTCCCTGCCCCCGCCCCCA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0184 a0001c0001t0005g0184	1	277	0.0036	183	c.163 others(200): Show c.163-2681_163-2680insCCACTCCTGTCCTGGGGAACCGTGTCCT CCCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCT GCCCCCACCCCCAGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCT CCACCCCTGGCCACTCCTGTCTTGGGGAGCCGTGTCCTCCCTGCCCCCGC CCCCA		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18						chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635159	G G	GCCACTCC others(176): Show GCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCA CTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCCAGCCACTCC TGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGCCACTCCTGTC TTGGGGAGCCGTGTCCTCCCTGCCCCCGCCCCCA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG00621.hp2 others(33): Show HG00423.hp2 HG00597.hp1 HG00621.hp2 HG01256.hp1 HG01515.hp2 HG01517.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02615.hp2 HG02818.hp2 HG03041.hp2 HG03098.hp2 HG03486.hp2 HG03540.hp1 NA18951.hp2 NA18964.hp2 NA18967.hp2 NA18970.hp1 NA18975.hp2 NA18980.hp1 NA18995.hp2 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19059.hp1 NA19065.hp1 NA19081.hp2 NA19087.hp1 NA19091.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0026 a0001c0001t0036 a0001c0001t0044 a0001c0001t0049 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0006t0042	a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0002g0013 others(31): Show a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0002g0013 a0001c0001t0002g0076 a0001c0001t0002g0230 a0001c0001t0002g0243 a0001c0001t0002g0248 a0001c0001t0002g0257 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0304 a0001c0001t0005g0003 a0001c0001t0005g0059 a0001c0001t0005g0060 a0001c0001t0006g0099 a0001c0001t0006g0171 a0001c0001t0026g0075 a0001c0001t0036g0170 a0001c0001t0044g0305 a0001c0001t0049g0061 a0001c0001t0057g0272 a0001c0001t0058g0283 a0001c0001t0059g0274 a0001c0006t0042g0312	36	312	0.1154	183	c.163 others(200): Show c.163-2681_163-2680insCCACTCCTGTCCTGGGGAACCGTGTCCT CCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCT GCCCCCACCCCCAGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCT CCACCCCTGGCCACTCCTGTCTTGGGGAGCCGTGTCCTCCCTGCCCCCGC CCCCA		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18						chr22	TogoVar
GRAP2_chr22_39896084_39978721	39956636	C C	CTTTTTTT others(176): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	313	0.0032	183	c.170 others(198): Show c.170+730_170+731insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTT		GRAP2	ENSG00000100351.17	transcript	ENST00000344138.9	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr22	TogoVar
GSE1_chr16_85608322_85681200	85653214	T T	TCCTCCCC others(176): Show TCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCC CCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCC CCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTC CTCCTCCCCCTCCTCCTCCCCCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02300.hp1 NA18952.hp1 HG01978.hp2 HG02300.hp1 NA18952.hp1	a0002 a0012 a0016 a0002 a0012 a0016	a0002c0004 a0012c0024 a0016c0025 a0002c0004 a0012c0024 a0016c0025	a0002c0004t0002 a0012c0024t0002 a0016c0025t0002 a0002c0004t0002 a0012c0024t0002 a0016c0025t0002	a0002c0004t0002g0058 a0012c0024t0002g0169 a0016c0025t0002g0166 a0002c0004t0002g0058 a0012c0024t0002g0169 a0016c0025t0002g0166	3	177	0.0169	183	c.427 others(200): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCC CTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCTC CTCCC		GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85653214	T T	TCCTCCCC others(176): Show TCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCTCCTCCT CCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCT CCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCC TCCTCCCCCTCCTCCTCCCCCCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	175	0.0057	183	c.427 others(200): Show c.427-1062_427-1061insTCCCCCCTCCTCCTCCCCCCTCTTCCCC CCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCC TCCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCCCTCCTCCTC CTCCC		GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(176): Show CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCC TCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCT CCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02683.hp1 NA18946.hp1 NA18946.hp2 HG02683.hp1 NA18946.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0179 a0001c0001t0001g0255 a0001c0001t0001g0012 a0001c0001t0001g0179 a0001c0001t0001g0255	3	209	0.0144	183	c.427 others(200): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCTCCTCCCCCCT CCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTC CTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTC CTCCT		GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15						chr16	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(176): Show CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCC TCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCT CCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01433.hp2 HG01975.hp1 HG01081.hp1 HG01433.hp2 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0031 a0001c0001t0001g0249 a0001c0001t0006g0173 a0001c0001t0001g0031 a0001c0001t0001g0249 a0001c0001t0006g0173	3	209	0.0144	183	c.427 others(200): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTC CTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTC CTCCT		GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15						chr16	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(176): Show CTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCC CCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCC TCCTCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCT CCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	207	0.0048	183	c.427 others(200): Show c.427-1062_427-1061insTCCCCCCTCCTCCTCCCCCCTCTTCCCC CCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCCTCCCTCCTCCCCCCTCCTCCCCCCTC CTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTC CTCCT		GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15						chr16	TogoVar
GTF2IRD1_chr7_74448906_74607605	74556790	A A	ATTTTTTT others(176): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGAAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG03098.hp2 HG03139.hp2 others(5): Show HG01069.hp1 HG03098.hp2 HG03139.hp2 HG04115.hp2 NA18993.hp1 NA19000.hp2 NA19005.hp1 NA19090.hp1	a0002 a0002	a0002c0003 a0002c0006 a0002c0003 a0002c0006	a0002c0003t0001 a0002c0006t0002 a0002c0003t0001 a0002c0006t0002	a0002c0003t0001g0001 a0002c0003t0001g0022 a0002c0003t0001g0128 others(5): Show a0002c0003t0001g0001 a0002c0003t0001g0022 a0002c0003t0001g0128 a0002c0003t0001g0198 a0002c0003t0001g0223 a0002c0003t0001g0230 a0002c0003t0001g0242 a0002c0006t0002g0214	8	227	0.0352	183	c.202 others(200): Show c.2024-844_2024-843insTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGAAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTT		GTF2IRD1	ENSG00000006704.11	transcript	ENST00000424337.7	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr7	TogoVar
HIGD1C_chr12_50947544_50975607	50948896	G G	GGGAGGGG others(176): Show GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	372	0.0027	183	c.-38 others(194): Show c.-3883_-3882insGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGG AGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA		HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding					3647		chr12	TogoVar
HIVEP3_chr1_41501365_41923922	41544864	C C	CCACCACC others(176): Show CCACCACCACCACCACTACCACCTCTACCACCTCTACCACCACGACCACC ACTACCACCTCTACCACCACCATCATCACCACCACCACTACCACCTCTAC CACCACCATCACCACCACCACCACCATCACCTCTACCACCACCATCACCA CCACTACCACTACCTCTACCTCCACTGCTACCAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03579.hp2 HG02145.hp1 HG03579.hp2	a0004 a0018 a0004 a0018	a0004c0006 a0018c0026 a0004c0006 a0018c0026	a0004c0006t0028 a0018c0026t0050 a0004c0006t0028 a0018c0026t0050	a0004c0006t0028g0046 a0018c0026t0050g0081 a0004c0006t0028g0046 a0018c0026t0050g0081	2	112	0.0179	183	c.520 others(204): Show c.5208-19955_5208-19954insATGGTAGCAGTGGAGGTAGAGGTA GTGGTAGTGGTGGTGATGGTGGTGGTAGAGGTGATGGTGGTGGTGGTGGT GATGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGATGATGGTGGTGGTAG AGGTGGTAGTGGTGGTCGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTG GTGGTGGTG		HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8						chr1	TogoVar
HRCT1_chr9_35901202_35912136	35906586	T T	TCCACCAC others(176): Show TCCACCACCACCACCACCACCCCCGCCACACCCCTCACCACCTCCACCAC CACCACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCA CCACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCACCACCCCC GCCACACCCCTCACCACCTCCACCACCACCACCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01255.hp1 HG03453.hp1 HG01255.hp1 HG03453.hp1	a0006 a0006	a0006c0025 a0006c0025	a0006c0025t0001 a0006c0025t0001	a0006c0025t0001g0000 a0006c0025t0001g0000	2	311	0.0064	183	c.316 others(190): Show c.316_317insACCCCCGCCACACCCCTCACCACCTCCACCACCACCAC CACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCACCACCC CCGCCACACCCCTCACCACCTCCACCACCACCACCACCACCCCCGCCACA CCCCTCACCACCTCCACCACCACCACCACCACCACCACCACCACC	p.His others(196): Show p.His105_Pro106insHisProArgHisThrProHisHisLeuHisHi sHisHisHisHisProArgHisThrProHisHisLeuHisHisHisHisH isHisProArgHisThrProHisHisLeuHisHisHisHisHisHisPro ArgHisThrProHisHisLeuHisHisHisHisHisHisHisHisHisHi s	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115		INFO_REALIGN_3_PRIME	chr9	TogoVar
IFITM10_chr11_1727406_1755595	1754561	G G	GATGGAGG others(176): Show GATGGAGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGGGATGGAGG GATGGAGGGATGGAGGGGATGGAGGGATGGAGGGATGGAGGGATGGAGGG ATGGAGGGGATGGAGGGATGGAGGGATGGAGGGATGGAGGGGATGGAGGG ATGGAGGGGATGGAGGGATGGAGGGGATGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	396	0.0025	183	c.-41 others(194): Show c.-4120_-4119insTCCTCCATCCCCTCCATCCCTCCATCCCCTCCAT CCCTCCATCCCCTCCATCCCTCCATCCCTCCATCCCTCCATCCCCTCCAT CCCTCCATCCCTCCATCCCTCCATCCCTCCATCCCCTCCATCCCTCCATC CCTCCATCCCCTCCATCCCTCCATCCCCTCCATCCCTCCATCCCTCCAT		IFITM10	ENSG00000244242.2	transcript	ENST00000340134.5	protein_coding					3967		chr11	TogoVar
IFNAR1_chr21_33319970_33364864	33323379	G G	GTGGAATA others(176): Show GTGGAATATATATATGTGGAATATATATGTGGAATATATATATGTGGAAT ATATATGTGGAATATATATGTGGAATATATATGTGGAATATATATGTGGA ATATATATATATGGAATATATATGTGGAATATATATATATGGAATATATA TGTGGAATATATATATATGGAATATATATGTGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0032 a0003c0003t0032	a0003c0003t0032g0107 a0003c0003t0032g0107	1	322	0.0031	183	c.-16 others(194): Show c.-1677_-1676insTGGAATATATATATGTGGAATATATATGTGGAAT ATATATATGTGGAATATATATGTGGAATATATATGTGGAATATATATGTG GAATATATATGTGGAATATATATATATGGAATATATATGTGGAATATATA TATATGGAATATATATGTGGAATATATATATATGGAATATATATGTGGA		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					1590		chr21	TogoVar
IFT140_chr16_1505427_1617072	1599649	T T	TGGGGGGG others(176): Show TGGGGGGGTCGGCCCCCCGCCGGGCCAGCCACCCCGTCCGGGAGGGAGGT GGGGGGGTCGGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCGGCCCCCCGCCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0126 a0001c0010t0001g0126	1	316	0.0032	183	c.369 others(200): Show c.369+2720_369+2721insCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGGCGGGGGGCCGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCCGAC CCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGGGGCCGACC CCCCC		IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30						chr16	TogoVar
IL18R1_chr2_102350796_102403776	102352893	A A	AATATTAT others(176): Show AATATTATATATAATATTATATATAATATTATATATTTTATATATAATAT TATATATAATATTATATATTTTATATAATATTATATATAATATTATATAT TTTATATATAATATTATATATAATATTATATATTTTATATATAATATATA TTATATAATATTATATATATTATACATTACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	127	0.0079	183	c.-35 others(194): Show c.-3536_-3535insATATTATATATAATATTATATATAATATTATATA TTTTATATATAATATTATATATAATATTATATATTTTATATAATATTATA TATAATATTATATATTTTATATATAATATTATATATAATATTATATATTT TATATATAATATATATTATATAATATTATATATATTATACATTACATAT		IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding					2902		chr2	TogoVar
IL1RL1_chr2_102306563_102357037	102352893	A A	AATATTAT others(176): Show AATATTATATATAATATTATATATAATATTATATATTTTATATATAATAT TATATATAATATTATATATTTTATATAATATTATATATAATATTATATAT TTTATATATAATATTATATATAATATTATATATTTTATATATAATATATA TTATATAATATTATATATATTATACATTACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	122	0.0082	183	c.97 others(192): Show c.972_*973insATATTATATATAATATTATATATAATATTATATATT TTATATATAATATTATATATAATATTATATATTTTATATAATATTATATA TAATATTATATATTTTATATATAATATTATATATAATATTATATATTTTA TATATAATATATATTATATAATATTATATATATTATACATTACATAT		IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding					857		chr2	TogoVar
INPP5A_chr10_132532787_132788480	132572939	C C	CTGAGGTT others(176): Show CTGAGGTTTTGTTGAGATGTTGGGGTGTACGTGCCGTGTGAGGTTTTGTT GAGATGTTGGGGTGTGCGTGCCGTGTGAGGTTTTGTTGCGATGTTGGGGT GTACGTGCCGTGTGAGGTTTTGTTGAGATGTTGGGGTGTGTGTGCTGTGT GAGGTTTTGTTGATGTTGAGGTGTGTGTGCCGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00735.hp2 HG01099.hp1 others(30): Show HG00544.hp2 HG00735.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01255.hp2 HG01261.hp2 HG01433.hp2 HG01515.hp1 HG01928.hp2 HG02056.hp1 HG02083.hp2 HG02135.hp1 HG02148.hp1 HG02258.hp2 HG02559.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp2 HG02895.hp2 HG02896.hp2 HG03579.hp2 HG03654.hp2 HG03927.hp1 HG04184.hp2 NA18952.hp2 NA18962.hp2 NA18969.hp2 NA18990.hp1 NA19010.hp2 NA19087.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0011 others(1): Show a0001c0001 a0001c0003 a0001c0011 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0017 a0001c0003t0001 a0001c0011t0001 a0002c0002t0001	a0001c0001t0001g0069 a0001c0001t0001g0149 a0001c0001t0001g0150 others(30): Show a0001c0001t0001g0069 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0002g0003 a0001c0001t0002g0162 a0001c0001t0002g0167 a0001c0001t0006g0176 a0001c0001t0006g0177 a0001c0001t0017g0182 a0001c0003t0001g0145 a0001c0011t0001g0172 a0002c0002t0001g0158	33	201	0.1642	183	c.75+ others(200): Show c.75+34796_76-34766dupACGTGCCGTGTGAGGTTTTGTTGAGATG TTGGGGTGTGCGTGCCGTGTGAGGTTTTGTTGCGATGTTGGGGTGTACGT GCCGTGTGAGGTTTTGTTGAGATGTTGGGGTGTGTGTGCTGTGTGAGGTT TTGTTGATGTTGAGGTGTGTGTGCCGTGTGAGGTTTTGTTGAGATGTTGG GGTGT		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
IPO11_chr5_62407763_62633582	62598527	T T	TTTCTTTC others(176): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	261	0.0038	183	c.267 others(202): Show c.2679-3235_2679-3234insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTT		IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	28/29					INFO_REALIGN_3_PRIME	chr5	TogoVar
IVD_chr15_40400795_40426308	40422766	A A	ATTTTTGT others(176): Show ATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG01123.hp2 others(31): Show HG00438.hp2 HG00544.hp1 HG01123.hp2 HG02148.hp1 HG02148.hp2 HG03098.hp2 HG03654.hp2 HG03831.hp1 HG03831.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18940.hp1 NA18945.hp2 NA18960.hp2 NA18965.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp2 NA18995.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19078.hp1 NA19086.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 a0001c0001t0028	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0051 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0003g0006 a0001c0001t0003g0020 a0001c0001t0003g0032 a0001c0001t0003g0058 a0001c0001t0021g0001 a0001c0001t0028g0087	34	200	0.1700	183	c.45 others(194): Show c.4503_*4504insTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT		IVD	ENSG00000128928.10	transcript	ENST00000487418.8	protein_coding					1459		chr15	TogoVar
JAKMIP3_chr10_132060946_132189858	132159769	T T	TGGGGGCA others(176): Show TGGGGGCATGTCTTCCTGTGTGATACTGGGGGGGCCTCTTCCTGTGTGAT ACTGGGGGGGCCTCTTCCTGTGTGATGCTGGGGGGCCTCTTCCTGTGTGA TGCTGCGGGGGGGTCTATTCCTGTGTCTTACTGGGGGGGCCTCTCCCTGT GTGATGCTGGGGAGCCTCTTCCAGTGTGATGCTG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0002 a0003c0018t0002	a0003c0018t0002g0025 a0003c0018t0002g0025	1	105	0.0095	183	c.222 others(202): Show c.2221-3435_2221-3434insCATGTCTTCCTGTGTGATACTGGGGG GGCCTCTTCCTGTGTGATACTGGGGGGGCCTCTTCCTGTGTGATGCTGGG GGGCCTCTTCCTGTGTGATGCTGCGGGGGGGTCTATTCCTGTGTCTTACT GGGGGGGCCTCTCCCTGTGTGATGCTGGGGAGCCTCTTCCAGTGTGATGC TGGGGGG		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
JARID2_chr6_15241069_15527042	15469354	T T	TCCTCCCC others(176): Show TCCTCCCCTTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCT CTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCT CCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCC CCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	184	0.0054	183	c.670 others(198): Show c.670+637_670+638insCTCCCCTTCTCCCCCTCTCCCCCTCTCCCC CTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCT CTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCT CCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCC CCC		JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNN4_chr19_43761533_43785973	43780491	G G	GACCCCAG others(176): Show GACCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCTGACCCCCAGCCCCT CCTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCAGACCC AGGAGTCCTGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCC CTCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	411	0.0024	183	c.159 others(198): Show c.159+211_159+212insTTGGACTCCTGGGTCTGAGGGAGGAGGGAC TGAGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCAGGAC TCCTGGGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGG GAGGAGGGGCTGGGGGTCAGGACTCCTGGGTCTGAGGGAGGAGGGGCTGG GGT		KCNN4	ENSG00000104783.15	transcript	ENST00000648319.1	protein_coding	1/8						chr19	TogoVar
KCNQ2_chr20_63395208_63477655	63442884	C C	CCACCACC others(176): Show CCACCACCATCACCATCACCACCACCATCACCATTATCACCACCACCATC ACCACCATCACCATCACCACCATCACCATCACCACCACCACCATCACCAT CACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCACCA CCACCACCACCACCATCACCATCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0319 a0001c0003t0017g0319	1	326	0.0031	183	c.691 others(198): Show c.691-354_691-353insATGGTGGTGGTGATGGTGATGGTGGTGGTG GTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTAATGGTGGTGGTAAT GGTGATGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGATGG TGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGTG GTG		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16						chr20	TogoVar
KDM4B_chr19_4964113_5158598	5090351	T T	TCTCTCTC others(176): Show TCTCTCTCTCCCCATCTCTCTCTCCCCCCATATCTCTCCCCCTCTCTCTC TCTCTCCCCCCCCCTCTGTCTCTCTCTCCCCCATCTCTCTTCCCCCTCTC TCTCCGCCTCTTTCTCTCCCCCCCTCTCTTTCTCTCCCCCTCTCGCCCCC TCTCTCCCCCTCTCCCCCTCTTTCCCCGCTCCCC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0137 a0001c0001t0034g0137	1	268	0.0037	183	c.918 others(200): Show c.918+7856_918+7857insCCCATCTCTCTCTCCCCCCATATCTCTC CCCCTCTCTCTCTCTCTCCCCCCCCCTCTGTCTCTCTCTCCCCCATCTCT CTTCCCCCTCTCTCTCCGCCTCTTTCTCTCCCCCCCTCTCTTTCTCTCCC CCTCTCGCCCCCTCTCTCCCCCTCTCCCCCTCTTTCCCCGCTCCCCCTCT CTCTC		KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	9/22					INFO_REALIGN_3_PRIME	chr19	TogoVar
KIAA0232_chr4_6777727_6889164	6879827	C C	CCCCCTCA others(176): Show CCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACA GGTCTGCAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTT CCCAACACACAGGTCTGCAGTGTCCCCTCACCATCTGTACTGTGTCACTG CAAACTCCCTTCCCAACACACAGGTCTGCAGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA20805.hp2 HG02109.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0078 a0001c0001t0001g0079	2	350	0.0057	183	c.400 others(200): Show c.4009-851_4009-850insAGGTCTGCAGTGTCCCCTCACCATCTGT ACTGTGTCACTGCAAACTCCCTTCCCAACACACAGGTCTGCAGTGTCCCC TCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACAGGTCT GCAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAA CACAC		KIAA0232	ENSG00000170871.12	transcript	ENST00000307659.6	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr4	TogoVar
KIAA0232_chr4_6777727_6889164	6879827	C C	CCCTCACC others(176): Show CCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACCCG TCTGCAGTGCCCCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTT CCCAACACACAGGTCTGCAGTGTCCCCTCACCATCTGTACTGTGTCACTG CAAACTCCCTTCCCAACACACAGGTCTGCAGTGT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	349	0.0029	183	c.400 others(200): Show c.4009-958_4009-957insTCACCATCTGTACTGTGTCACTGCAAAC TCCCTTCCCAACACACCCGTCTGCAGTGCCCCCCCTCACCATCTGTACTG TGTCACTGCAAACTCCCTTCCCAACACACAGGTCTGCAGTGTCCCCTCAC CATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACAGGTCTGCAG TGTCC		KIAA0232	ENSG00000170871.12	transcript	ENST00000307659.6	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr4	TogoVar
KIAA0232_chr4_6777727_6889164	6879878	G G	GTCTGCAG others(176): Show GTCTGCAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTC CCAACACACAGATCTGCAGTGTCCCCTCACCATCTGTACTGTGTCACTGC AAACTCCCTTCCCACCACACAGATCTGCAGTGCCCCCTCACCATCTGTAC TGTGTCACTGCAAACTCCCTTCCCAACACACAGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0232 a0001c0001t0006g0232	1	340	0.0029	183	c.400 others(200): Show c.4009-851_4009-850insAGATCTGCAGTGTCCCCTCACCATCTGT ACTGTGTCACTGCAAACTCCCTTCCCACCACACAGATCTGCAGTGCCCCC TCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACAGATCT GCAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAA CACAC		KIAA0232	ENSG00000170871.12	transcript	ENST00000307659.6	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr4	TogoVar
KIAA0232_chr4_6777727_6889164	6880012	G G	GCCTCACC others(176): Show GCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACAGAGG TCTGCAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCC CAACACACAGGTCTGTAGTGTCGCCTCACCATCTGTACTGTGTCACTGCA AACTCCCTTCCCAACACAGAGGTCTGCAGTGTCC	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA19043.hp1 HG06807.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0005 a0001c0001t0023g0005 a0001c0001t0001g0005 a0001c0001t0023g0005	2	115	0.0174	183	c.400 others(200): Show c.4009-607_4009-425dupGAGGTCTGCAGTGTCCCCTCACCATCTG TACTGTGTCACTGCAAACTCCCTTCCCAACACAGAGGTCTGCAGTGTCCC CTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACAGGTC TGTAGTGTCGCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCA ACACA		KIAA0232	ENSG00000170871.12	transcript	ENST00000307659.6	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr4	TogoVar

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