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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ABCC6_chr16_16144565_16228494	16172204	A A	ATAAATGA others(657): Show ATAAATGAGTGGGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGA GGTGGGATGGATAAATGAGTGGGTGGGATAGATAAATGAGTGGGTGGGAT GGATAAATGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGAT AAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGT GGGTGGGATGGATAAATGAGTGGGTGGGATGGATGGATAAATGAGTGGGT GGGATGGATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGC TAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGAG TGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGG TGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGG ATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATGG GTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGG GATGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATG GATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATG AGTGGGTGGGATGGC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	207	0.0048	664	c.278 others(683): Show c.2787+1079_2787+1080insGCCATCCCACCCACTCATTTATCCAT CCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCA CTCATTTATCCATCCCACCCACTCATTTATCCATCCATCCCACCCACTCA TTTAGCCATCCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCA TCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCCACCC ACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTT ATCCATCCCACCCACTCATTTATCCATCCATCCCACCCACTCATTTATCC ATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTAGCCATCCCACC CACCCATTTATCCATCCCACCCACTCATTTATCCATCCCACCCACTCATT TATCCATCCATCCCACCCACTCATTTATCCATCCCACCCACTCATTTAGC CATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCCAC CCACTCATTTATCCATCCATCCCACCCCCTCATTTATCCATCCCACCCAC TCATTTATCTATCCCACCCACTCATTTATCCATCCCACCTCATTTATGCA TCCCACCCACTCATTTATGCATCCCACCCACTCATTTA	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ACAP3_chr1_1287391_1312930	1288457	C C	CCGTGTCT others(657): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCCCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCCCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	265	0.0038	664	c.51 others(675): Show c.5106_*5107insACGGAGCAGAGACACGGGACGGGGCAGAGACACG GGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGA CACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCA GGGACACGGGACGGAGCAGAGACACGGGACGGGGCAGGGACACGGGACGG GGCAGGGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGG ACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGA GACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAG CAGGGACACGGGACGGAGCAGAGACACGGGACGGGGCAGGGACACGGGAC GGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACG GGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGA CACGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCA GAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGACGG AGCAGGGACACGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3933		chr1	TogoVar
ADAMTS17_chr15_99966437_100346975	100276412	G G	GGTGGGAG others(657): Show GGTGGGAGGGAGTGGGTGACTGGTGGGAGGGTGGGAGGGTGTGGGTGCCT GGTGGGAGGGAGTGGGTGCCTGGCGGGAGGGTGGGAGGGAGTGGGTGCCT GGCGGGAAGGTGGGAGGGAGTGGGTGCCTGGCGGGAAGGTGGGAGGGTGT GGGTGCCTGGCGGGAAGGTGGGAGGGAGTGGGTGCCTGGCGGGAAGGTGG GAGGGTGTGGGTACCTGGCGGGAGGGTGGGAGGGAGTGGGTGCCTGGTGG GAGGGTGGGAGGGAGTGGGTGCCTGGTGGGAGGGTGGGAGGGAGTGGGTG CCTGGTGGGAGGGTGGGAGGGAGTGGGTGCCTGGTGGGAGGGTGGGAGGG AGTGGGTGCCTGGTGGGAGGGTGGGAGGGAGTGGGTGCCTGGTGGGAGGG TGGGAGGGTGTGGGTGCCTGGTGGGAGGGTGGGAGGGAGTGGGTGCCTGG TGGGAGGGTGGCAGAGAGTGGGTGCCTGGTGGGAGGGTGGAAGGGAGTGG GTGCCTGGTGGGAGGGTGTGGGTGCCTGGTGGGAGGGAGTGGGTGCCTGG TGGGAGAGTGGGAGGGAGTGGGTGCCTGGTGGGAGGGTGGGAGGGAGTGG GTGCCTGGTGGGAGGGTGGGAGGGTGTGGGTGCCTGGTGGGAGAGAGTGG GTGCCTGGTGGGAGA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0004 a0001c0021t0004	a0001c0021t0004g0219 a0001c0021t0004g0219	1	216	0.0046	664	c.789 others(681): Show c.789+4816_789+4817insTCTCCCACCAGGCACCCACTCTCTCCCA CCAGGCACCCACACCCTCCCACCCTCCCACCAGGCACCCACTCCCTCCCA CCCTCCCACCAGGCACCCACTCCCTCCCACTCTCCCACCAGGCACCCACT CCCTCCCACCAGGCACCCACACCCTCCCACCAGGCACCCACTCCCTTCCA CCCTCCCACCAGGCACCCACTCTCTGCCACCCTCCCACCAGGCACCCACT CCCTCCCACCCTCCCACCAGGCACCCACACCCTCCCACCCTCCCACCAGG CACCCACTCCCTCCCACCCTCCCACCAGGCACCCACTCCCTCCCACCCTC CCACCAGGCACCCACTCCCTCCCACCCTCCCACCAGGCACCCACTCCCTC CCACCCTCCCACCAGGCACCCACTCCCTCCCACCCTCCCACCAGGCACCC ACTCCCTCCCACCCTCCCGCCAGGTACCCACACCCTCCCACCTTCCCGCC AGGCACCCACTCCCTCCCACCTTCCCGCCAGGCACCCACACCCTCCCACC TTCCCGCCAGGCACCCACTCCCTCCCACCTTCCCGCCAGGCACCCACTCC CTCCCACCCTCCCGCCAGGCACCCACTCCCTCCCACCAGGCACCCACACC CTCCCACCCTCCCACCAGTCACCCACTCCCTCCCAC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	4/21			chr15	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(657): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATATTATATACATATAATATA TATTCTCATATATATTATATATACTCATATATATAATATATATTCTCATA TATATATTATATATTCTCATATATATAATATATATATTCTCATATATAAT ATATATTCTCATATATATAATATATACTCATATATTATATATATACTCAT ATATAATGTATATATTCTAATATATAATATATATTTTCTCATTTATATAA TATATATTCTCATATATAATATATATTCTCATATATGACATATTATATAT ATTCTCATATATATTATATATTCTCATATATAATATATATTCTCATATAA TATATTATATATTCTCATATAATATATTATATATGCTCATATATAATATA TTATATATGCTCATATATAATATATTATATATGCGCATATATAATATATT ATATATGCTCATATATAATATATTATATATGCTCATATATATTATATATG CTCATATATAATATATTATATATGCTCATATATATTATATATGCTCATAT ATAATATATTATATATGCTCATATATATTATATATGCTCATATATAATAT ATATGCTCATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0000 a0001c0001t0080g0000	1	10	0.1000	664	c.10 others(677): Show c.10504_*10505insTATATATGAGCATATATATTATATATGAGCAT ATATAATATATATGAGCATATATAATATATTATATATGAGCATATATAAT ATATATGAGCATATATAATATATTATATATGAGCATATATAATATATATG AGCATATATAATATATTATATATGAGCATATATAATATATTATATATGCG CATATATAATATATTATATATGAGCATATATAATATATTATATATGAGCA TATATAATATATTATATGAGAATATATAATATATTATATGAGAATATATA TTATATATGAGAATATATAATATATATGAGAATATATATAATATGTCATA TATGAGAATATATATTATATATGAGAATATATATTATATAAATGAGAAAA TATATATTATATATTAGAATATATACATTATATATGAGTATATATATAAT ATATGAGTATATATTATATATATGAGAATATATATTATATATGAGAATAT ATATATTATATATATGAGAATATATAATATATATATGAGAATATATATTA TATATATGAGTATATATAATATATATGAGAATATATATTATATGTATATA ATATATATAATATATACATATATACATATAATATATAAACATATAATATA TAATATATACATGTAATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
ANKRD30A_chr10_37120598_37237567	37167076	C C	CGGGTATG others(657): Show CGGGTATGGTTAGAAATTTGGGAAGAATATAATGTGACCTTCTAGAATCA AAATTTACCAGAGAATTACAGCAAAAATATTCTGACTCTTAATGTCTTTC TCACTGGTGGGAAGCCATTAGGGATGGAAGCACCTGACCATGGAGAGCTG TGTTCTATTTGCAATAGGTGAGAATAAGCATATCTGCACGGCCACACATG TATATAAATTGTCATATACACTCCGTATAGACCAGAGGTTTTCAAACTTT AGAAAGTCAGCTGAAAACCTTGTTAACAATTCACACTGAGATTCAGCCGA CCTGGGATTCTGCATTTTTAAAAAGTTCTCAGGTGATGCTGATGCTGGTG GTCCTTGGACGTTGCTCTGGGTAGCAAGAGGAGAGGCCTTTTGTGGGAAA AATGTGGAAGCAGAGCAACTGGATAGAAGGTCAGGACAGAAAAGGTCAGG AGAAAACATCATGGTCCTCTTAATTTTGAGGATGTTTTTAGTCAGGGGAG AAGAAGAAAGGAGCAATGCAATAGAAATTATAGATGGAAGGTACTACCAC TCCTCAAAGTAAAAGGAAAGAGTGGGAAAAAATAATTTTAACAGGTGTCG AATGGGAAGAATCAAGAGCACAAGTCTAGTGATTATTTTTGCTAAAGCAG AGAGATTGTGAGGCA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0008 a0008	a0008c0033 a0008c0033	a0008c0033t0001 a0008c0033t0001	a0008c0033t0001g0163 a0008c0033t0001g0163	1	284	0.0035	664	c.215 others(681): Show c.2155+383_2155+384insGTATGGTTAGAAATTTGGGAAGAATATA ATGTGACCTTCTAGAATCAAAATTTACCAGAGAATTACAGCAAAAATATT CTGACTCTTAATGTCTTTCTCACTGGTGGGAAGCCATTAGGGATGGAAGC ACCTGACCATGGAGAGCTGTGTTCTATTTGCAATAGGTGAGAATAAGCAT ATCTGCACGGCCACACATGTATATAAATTGTCATATACACTCCGTATAGA CCAGAGGTTTTCAAACTTTAGAAAGTCAGCTGAAAACCTTGTTAACAATT CACACTGAGATTCAGCCGACCTGGGATTCTGCATTTTTAAAAAGTTCTCA GGTGATGCTGATGCTGGTGGTCCTTGGACGTTGCTCTGGGTAGCAAGAGG AGAGGCCTTTTGTGGGAAAAATGTGGAAGCAGAGCAACTGGATAGAAGGT CAGGACAGAAAAGGTCAGGAGAAAACATCATGGTCCTCTTAATTTTGAGG ATGTTTTTAGTCAGGGGAGAAGAAGAAAGGAGCAATGCAATAGAAATTAT AGATGGAAGGTACTACCACTCCTCAAAGTAAAAGGAAAGAGTGGGAAAAA ATAATTTTAACAGGTGTCGAATGGGAAGAATCAAGAGCACAAGTCTAGTG ATTATTTTTGCTAAAGCAGAGAGATTGTGAGGCAGG	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	19/35		INFO_REALIGN_3_PRIME	chr10	TogoVar
ASAP2_chr2_9201812_9410678	9406062	T T	TCTTCCTC others(657): Show TCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTG ACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTG TGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGA CCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTG AGTGGACCTCTGTGACATCTCGGCTTCCTCAGGCCTTCAGTGTGTGTTTG TCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTG TGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTC AGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAG GCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTT CCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCT AGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACC TCTGTGACATCTAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0157 a0002c0001t0001g0157	1	203	0.0049	664	c.27 others(675): Show c.2735_*2736insCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGA GTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTCACT GAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTCA CTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGT TTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGGCTTCCTCAGGCC TTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCT CAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGT CTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACA TCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCT GTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGG ACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACT GAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTT GTCACTGAGTGGACCTCTGTGACATCTAGG	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		385		chr2	TogoVar
CADPS_chr3_62393348_62880416	62844091	T T	TAAAAATG others(657): Show TAAAAATGGTCTTTTGTTTTGAGAAGGCCCAGGAAGCACTGATGACTGCT GTCGCAGGAAAAAAAAACAGCCTTCAAATAAGCAAAGGGCATAGTGAAGT TAAGAGACATCAGTGGTTCCTCAGACGCAAAACTCTGAAGCTCAAGGAAG GACATGTGCAGGCAGAGGTACAGGCCAAAGGAATATTGGAAAACTTAGTA GAAAAGGTTTAACGGGAATATGTGCTATAACTTAGGGCATTTTTACAGAG TCCAGAGGTAGAAAAACATACAGTAAATATATATATATTTGAGTAATTTA TTGTTGATTTAAAGCCTAATAGCATAATTTTAAAATTTATTCCTTTTGTG TATTGCTAACGTAGAGAAGTTAACTTTTCAGTTTGCTCAAAAATCCCCAC CACGAACAATTATTTGACCTGAAACCAACAAACATTGACTCTTCGCTTTC CTATTTCATAGTCCTCTGTGTAAAGCTATACTAATTAAGATAGTAGGCTA ATAGAAATTTAAAATTCAAGGGAAAATATTGAAAACCTGGAATGGGCCTG AATATATGCATAATCTTAACATGTTGTGAAGTAATTATCTAAAAGAAGAA GAGATGAATTATTCAATAAATGATATTGTGGAAATTAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0014 a0001c0001t0009g0014	1	158	0.0063	664	c.441 others(683): Show c.441+30497_441+30498insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTAATTTCCACAATATCATTTATTGAATAATTCATCTCTTCTTCTTTTA GATAATTACTTCACAACATGTTAAGATTATGCATATATTCAGGCCCATTC CAGGTTTTCAATATTTTCCCTTGAATTTTAAATTTCTATTAGCCTACTAT CTTAATTAGTATAGCTTTACACAGAGGACTATGAAATAGGAAAGCGAAGA GTCAATGTTTGTTGGTTTCAGGTCAAATAATTGTTCGTGGTGGGGATTTT TGAGCAAACTGAAAAGTTAACTTCTCTACGTTAGCAATACACAAAAGGAA TAAATTTTAAAATTATGCTATTAGGCTTTAAATCAACAATAAATTACTCA AATATATATATATTTACTGTATGTTTTTCTACCTCTGGACTCTGTAAAAA TGCCCTAAGTTATAGCACATATTCCCGTTAAACCTTTTCTACTAAGTTTT CCAATATTCCTTTGGCCTGTACCTCTGCCTGCACATGTCCTTCCTTGAGC TTCAGAGTTTTGCGTCTGAGGAACCACTGATGTCTCTTAACTTCACTATG CCCTTTGCTTATTTGAAGGCTGTTTTTTTTTCCTGCGACAGCAGTCATCA GTGCTTCCTGGGCCTTCTCAAAACAAAAGACCATTTTT	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	1/29			chr3	TogoVar
CAPN11_chr6_44153820_44189401	44181908	T T	TCACACAC others(657): Show TCACACACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACACATACACACTCACATACAGACACAACCACACCACACACACACAC ACTCACATACAGACACAACCACACCACACACACACACACACACACTCACA TACAGACACAACCACACCACACACACACACACTCACATACAGACACAACC ACACCACACTCACACACACACACTCACATACAGACACAACCACACCACAC TCACACATACACACTCACATACAGACACAACCACACCACACACACACACA CACTCACATACAGACACAACCACACCACACACACACACACTCACATACAG ACACAACCACACCACACACACACATACACACTCACATACAGACACAACCA CACCACACACACACACATACACACTCACATAGACACAACCACACCACACT CACACACACACATACACACTCACATACAGACACAACCACACCACACACAC ACACACACACACTCACATACAGACACAACCACACCACACTCACACACACA CACACTCACATACAGACACAACCACACCACACACACACATACACACTCAC ATACAGACACAACCACACCACACTCACACACACATACACACTCACATACA GACACAACCACACCA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	421	0.0024	664	c.193 others(681): Show c.1938+598_1938+599insCACACACTCACATACAGACACAACCACA CCACACTCACACACACACATACACACTCACATACAGACACAACCACACCA CACACACACACACTCACATACAGACACAACCACACCACACACACACACAC ACACACTCACATACAGACACAACCACACCACACACACACACACTCACATA CAGACACAACCACACCACACTCACACACACACACTCACATACAGACACAA CCACACCACACTCACACATACACACTCACATACAGACACAACCACACCAC ACACACACACACACTCACATACAGACACAACCACACCACACACACACACA CTCACATACAGACACAACCACACCACACACACACATACACACTCACATAC AGACACAACCACACCACACACACACACATACACACTCACATAGACACAAC CACACCACACTCACACACACACATACACACTCACATACAGACACAACCAC ACCACACACACACACACACACACTCACATACAGACACAACCACACCACAC TCACACACACACACACTCACATACAGACACAACCACACCACACACACACA TACACACTCACATACAGACACAACCACACCACACTCACACACACATACAC ACTCACATACAGACACAACCACACCACACACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181908	T T	TCACACAC others(657): Show TCACACACACACACACTCACATACAGACACAACCACACCACACTCACACA CACACATACACACTCACATACAGACACAACCACACCACACACACACACAC TCACATACAGACACAACCACACCACACACACACACACACACACACTCACA TACAGACACAACCACACCACACACACACACACTCACATACAGACACAACC ACACCACACTCACACACACACACTCACATACAGACACAACCACACCACAC TCACACATACACACTCACATACAGACACAACCACACCACACACACACACA CACTCACATACAGACACAACCACACCACACACACACACACACTCACATAC AGACACAACCACACCACACACACACATACACACTCACATACAGACACAAC CACACCACACACACACACATACACACTCACATAGACACAACCACACCACA CTCACACACACACATACACACTCACATACAGACACAACCACACCACACAC ACACACACACACTCACATACAGACACAACCACACCACACTCACACACACA CACACTCACATACAGACACAACCACACCACACACACACATACACACTCAC ATACAGACACAACCACACCACACTCACACACACATACACACTCACATACA GACACAACCACACCA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	421	0.0024	664	c.193 others(681): Show c.1938+598_1938+599insCACACTCACATACAGACACAACCACACC ACACTCACACACACACATACACACTCACATACAGACACAACCACACCACA CACACACACACTCACATACAGACACAACCACACCACACACACACACACAC ACACACTCACATACAGACACAACCACACCACACACACACACACTCACATA CAGACACAACCACACCACACTCACACACACACACTCACATACAGACACAA CCACACCACACTCACACATACACACTCACATACAGACACAACCACACCAC ACACACACACACACTCACATACAGACACAACCACACCACACACACACACA CACTCACATACAGACACAACCACACCACACACACACATACACACTCACAT ACAGACACAACCACACCACACACACACACATACACACTCACATAGACACA ACCACACCACACTCACACACACACATACACACTCACATACAGACACAACC ACACCACACACACACACACACACTCACATACAGACACAACCACACCACAC TCACACACACACACACTCACATACAGACACAACCACACCACACACACACA TACACACTCACATACAGACACAACCACACCACACTCACACACACATACAC ACTCACATACAGACACAACCACACCACACACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN15_chr16_522712_559636	544825	C C	CCTCCCCC others(657): Show CCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCC TCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGT CGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCG CCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCC GTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCGT CTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCC CCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGT CGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGTCGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0255 a0001c0002t0004g0255	1	240	0.0042	664	c.-22 others(681): Show c.-22-1979_-22-1978insTCGCCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGC CTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCG TCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTC CCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCC CCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGT CGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCC CACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCA CGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(657): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC CACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCAC CCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTT CCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCC ACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACC CCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTC CCTGCCCCCACACTGCAGCACCCCTCCCCTTCCTTCCCTGCCCCCCACAC TGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCT CCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02071.hp1 HG02027.hp2 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0162 a0001c0001t0001g0163	2	57	0.0351	664	c.-29 others(675): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AAGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGG GGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGGGGTGCT GCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGC AGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGG GAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGC AGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCA GGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGG AGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAG TGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGG AAGGAGGGGGAGGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CECR2_chr22_17364460_17563151	17524554	G G	GGCTAATT others(657): Show GGCTAATTTTTTGTATTGTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTTTTCTG TTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTTTCTTA GATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATAACAGA TCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATAAGTGT ATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGATTTGGC TTTTTTAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTGGCTAA GAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAAAGTTA CTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCCCAGGC TGGAGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCGGGT TCTCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCAC CCACTACCACGCCCA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02896.hp2 HG03491.hp1 HG01070.hp2 HG02896.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0135 a0001c0001t0003g0186 a0001c0001t0004g0167 a0001c0001t0001g0135 a0001c0001t0003g0186 a0001c0001t0004g0167	3	87	0.0345	664	c.110 others(681): Show c.1108+299_1108+300insGTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTT TTCTGTTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTT TCTTAGATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATA ACAGATCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATA AGTGTATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGAT TTGGCTTTTTTAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTG GCTAAGAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAA AGTTACTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCC CAGGCTGGAGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCC CGGGTTCTCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCACCCACTACCACGCCCAGCTAATTTTTTGTATT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CELF2_chr10_11012872_11341675	11284432	T T	TGGATGAG others(657): Show TGGATGAGTGTGTGGTGGGTGGATGAGGGATGAGTGCGTGGTGGGTGGAT GAGGGATGAGTGTGTGGTGGGGGATGAGGGATGAGTGTGTGGTGGGTGGA TGAGGGATGAGTGTGTGGTGGGTGGATGATGGATGGAGGGGTGGGTGGAC GATGGATGAGTGTGTGGTAGGTGGACGATGGATGAGTGTGTGGTGGGTGG ATGAGGGATGAGTGTGTGGTGGGTGGATGATGGATGAGTGTCTGGTGAGT GGATGAGGGATGAGTGTGTGGTGGGTGGATGATGGATGGAGGGGTGGGTG GATGATGGATGACTGTGTGGTAGGTGGATGATGGATGAGTGTGTGGTGGG TGGATGAGGGATGAGTGTGTGGTGGGTGGATGACGGATGAGTGTGTGGTG AGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGATGGATGAGTGTGTGG TGAGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGATGGATGGAGGAGT GGGTGGATGATGGATGACTGTGTGGTAGGTGGATGATGGATGAGTGTGTG GTGGGTGGATGAGGGATGAGTGCGTGGTGGGTGGGTGAGGGATGAGTGTG TGGTGGGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGAGGGATGAGTG TGGTGGGTGGATGAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0083 a0001c0001t0012g0083	1	6	0.1667	664	c.842 others(681): Show c.842-3951_842-3950insCGTGGTGGGTGGATGAGGGATGAGTGTG TGGTGGGGGATGAGGGATGAGTGTGTGGTGGGTGGATGAGGGATGAGTGT GTGGTGGGTGGATGATGGATGGAGGGGTGGGTGGACGATGGATGAGTGTG TGGTAGGTGGACGATGGATGAGTGTGTGGTGGGTGGATGAGGGATGAGTG TGTGGTGGGTGGATGATGGATGAGTGTCTGGTGAGTGGATGAGGGATGAG TGTGTGGTGGGTGGATGATGGATGGAGGGGTGGGTGGATGATGGATGACT GTGTGGTAGGTGGATGATGGATGAGTGTGTGGTGGGTGGATGAGGGATGA GTGTGTGGTGGGTGGATGACGGATGAGTGTGTGGTGAGTGGATGAGGGAT GAGTGTGTGGTGGGTGGATGATGGATGAGTGTGTGGTGAGTGGATGAGGG ATGAGTGTGTGGTGGGTGGATGATGGATGGAGGAGTGGGTGGATGATGGA TGACTGTGTGGTAGGTGGATGATGGATGAGTGTGTGGTGGGTGGATGAGG GATGAGTGCGTGGTGGGTGGGTGAGGGATGAGTGTGTGGTGGGTGGATGA GGGATGAGTGTGTGGTGGGTGGATGAGGGATGAGTGTGGTGGGTGGATGA GGGATGAGTGTGTGGTGGGTGGATGAGGGATGAGTG	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CKAP2_chr13_52450478_52481627	52460703	C C	CGGCCTCC others(657): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT GTTTACACTGTTAAAAATAATTAAAAGTTTTGCTTAGGGCTGGGCGTGAT GGCTCACACTTGTAATCACAGCACTTTGGGAGGCCAGTGTAGGCAGATCA CCTCAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGT CTCTATTAAAAATACAAAAATTAGCTGGGTGAGGTGGCGTGTGCCTGTAA TCCCAGCTACTCAGGAGGCTGAGGCAGGAAACTCTCTTGAAACCCGGGAG GCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTG ACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAATTTGCTTAGGACAAA TTTCTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCT CTGTCACCCAGGCTAGAGTGCAGTGGCACGATCTCGGCTCACTACAACCT CCACCTCCCAGGTTCAAGGAATTCTCCTGCCTCAGCCTCCTGAGTAGCTG GGACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTATTTTTAGTGG AGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTTCTGACCTTG TGATCCACCTGCCTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18972.hp2 NA19075.hp1 HG02818.hp2 NA18972.hp2 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0061 a0001c0001t0002g0175 a0001c0001t0003g0123 a0001c0001t0001g0061 a0001c0001t0002g0175 a0001c0001t0003g0123	3	4	0.7500	664	c.156 others(679): Show c.156-168_156-167insGTGAGCCACCGCGCCCGGCCTGTTTACACT GTTAAAAATAATTAAAAGTTTTGCTTAGGGCTGGGCGTGATGGCTCACAC TTGTAATCACAGCACTTTGGGAGGCCAGTGTAGGCAGATCACCTCAGGTC AGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTATTAA AAATACAAAAATTAGCTGGGTGAGGTGGCGTGTGCCTGTAATCCCAGCTA CTCAGGAGGCTGAGGCAGGAAACTCTCTTGAAACCCGGGAGGCAGAGGTT GCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGA GACTCCATCTCAAAAAAAAAAAAAAATTTGCTTAGGACAAATTTCTTTTT TTTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCC AGGCTAGAGTGCAGTGGCACGATCTCGGCTCACTACAACCTCCACCTCCC AGGTTCAAGGAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAG GCGCCTGCCACCACGCCTGGCTAATTTTTTATTTTTAGTGGAGACAGGGT TTCACCATCTTGGCCAGGCTGGTCTCGAACTTCTGACCTTGTGATCCACC TGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGC	CKAP2	ENSG00000136108.15	transcript	ENST00000258607.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CKAP2_chr13_52450478_52481627	52460703	C C	CGGCCTCC others(657): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT GTTTACACTGTTAAAAATAATTAAAAGTTTTGCTTAGGGCTGGGCGTGAT GGCTCACACTTGTAATCACAGCACTTTGGGAGGCCAGTGTAGGCAGATCA CCTCAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGT CTCTATTAAAAATACAAAAATTAGCTGGGTGAGGTGGCGTGTGCCTGTAA TCCCAGCTACTCAGGAGGCTGAGGCAGGAAACTCTCTTGAAACCCGGGAG GCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTG ACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATTTGCTTAGGACAAAT TTCTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCT CTGTCACCCAGGCTAGAGTGCAGTGGCACGATCTCGGCTCACTACAACCT CCACCTCCCAGGTTCAAGGAATTCTCCTGCCTCAGCCTCCTGAGTAGCTG GGACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTATTTTTAGTGG AGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTTCTGACCTTG TGATCCACCTGCCTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	2	0.5000	664	c.156 others(679): Show c.156-168_156-167insGTGAGCCACCGCGCCCGGCCTGTTTACACT GTTAAAAATAATTAAAAGTTTTGCTTAGGGCTGGGCGTGATGGCTCACAC TTGTAATCACAGCACTTTGGGAGGCCAGTGTAGGCAGATCACCTCAGGTC AGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTATTAA AAATACAAAAATTAGCTGGGTGAGGTGGCGTGTGCCTGTAATCCCAGCTA CTCAGGAGGCTGAGGCAGGAAACTCTCTTGAAACCCGGGAGGCAGAGGTT GCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGA GACTCCATCTCAAAAAAAAAAAAAATTTGCTTAGGACAAATTTCTTTTTT TTTTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCC AGGCTAGAGTGCAGTGGCACGATCTCGGCTCACTACAACCTCCACCTCCC AGGTTCAAGGAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAG GCGCCTGCCACCACGCCTGGCTAATTTTTTATTTTTAGTGGAGACAGGGT TTCACCATCTTGGCCAGGCTGGTCTCGAACTTCTGACCTTGTGATCCACC TGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGC	CKAP2	ENSG00000136108.15	transcript	ENST00000258607.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL5A1_chr9_134636803_134849843	134729517	T T	TGTGTGTG others(657): Show TGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGCGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAG CGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTG TGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTG AGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0014 a0001c0023t0001g0014	1	177	0.0056	664	c.925 others(679): Show c.925-674_925-673insCGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCC TGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COMMD9_chr11_36267292_36294424	36287120	T T	TACAATGT others(657): Show TACAATGTATATCATGTAGTATGTATACTACATACTATGTATATCATGTA GTATGTATACTACATACTATGTATATCATGTAGTATGTATACTACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATAT CATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTAT GTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGT ATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTAT ATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATAC CACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCA TGTAGTATGTATACC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01071.hp2 HG01106.hp2 others(1): Show HG00642.hp2 HG01071.hp2 HG01106.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0265 a0001c0001t0004g0028 a0001c0001t0001g0265 a0001c0001t0004g0028	4	351	0.0114	664	c.51+ others(679): Show c.51+2241_51+2242insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT ATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTAC ATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGT GGTATACATACTACATGATATACATAGTATGTGGTATACATACTACATGA TATACATAGTATGTGGTATACATACTACATGATATACATAGTAGTATACA TACTACATGATATACATAGTATGTAGTATACATACTACATGATATACATA GTATGTAGTATACATACTACATGATATACATTGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
CPNE4_chr3_131528569_132040014	131978270	T T	TTTTATAT others(657): Show TTTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATTTATATATATATTTTTATATATTTATATATATTTTTAT ATATTTATATATTTATATATATATTTATATATATATTTATATATATATTT ATATATATATTTATATATATTTTTATATATATATTTATATATATTTATAT ATATATATTTATATATATTTATATATATTTATATATATATATTTATATAT ATATTTTTATATATTTATATATATTTATATATATTTATATATATATTTAT ATATATATTTATATATATTTATATATATATATTTATATATATATTTATAT ATATTTATATATATATATTTATATATATATATATATATATTTATATATAT TTATATATATATATTTATATATATATATATATATATATTTATATATATTT ATATATATATATTTATATATATTTATATATATATATTTATATATATATTT ATATATATTTATATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATATTTATATATTTATATATATTTATATATATATTT ATATATTTATATATATTTATATATATATTTATATATTTATATATATTTAT ATATATATTTATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	46	0.0217	664	c.-2+ others(681): Show c.-2+56296_-2+56297insTATATAAATATATATATAAATATATATA AATATATAAATATATATATAAATATATATAAATATATAAATATATATATA AATATATATAAATATATAAATATATATATATAAATATATATAAATATATA TATAAATATATATAAATATATATATATAAATATATATAAATATATATATA AATATATATATATAAATATATATAAATATATATATATAAATATATATAAA TATATATATATATATATATATAAATATATATATATAAATATATATAAATA TATATATATATATATATAAATATATATATATAAATATATATAAATATATA TATAAATATATATATATAAATATATATAAATATATATATAAATATATATA TAAATATATATAAATATATATAAATATATAAAAATATATATATAAATATA TATATATAAATATATATAAATATATATAAATATATATATATAAATATATA TAAATATATATATAAAAATATATATAAATATATATATAAATATATATATA AATATATATATAAATATATATATAAATATATAAATATATAAAAATATATA TAAATATATAAAAATATATATATAAATATAAATATATATAAATATATATA TAAATATATATAAATATATATATAAATATATATAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CSF2RA_chrX_1263814_1314935	1278600	T T	TGCTTCAA others(657): Show TGCTTCAACTTGGGAGACGGAGGTTGCAGTGAGCCGAGATGGCACCACTG CACTCCAGCCTGGGTGACAGAATGAGACTCAGTCTAAAAAAAAAAAAATT TCAGGGCAAGCAAGTTTATTATGAAAGTAAAATAGTGAAAGACTAGGTAA TCCAGAGGCTGGGTGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGA GCCCAAGGCATGTGGATCACCTGAGGTCAGAAGTTCGAGACCAGCCTGGC CAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCG TGTTGGTGCGTGCCTGTAGTCCCAGCTACTCGGAGGCTGAGGCAGTAGAA TCACTTGAACCTAGGAGACAGAGGTTGCAGTGAGCCGAGATGGCGCCACT GTACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCCAAAAAATAAATA AATAAGTCAACCAAGAAGGCCGTACGTACAGTGGCTCACACCTGTCATCC CATCACTTTGGGAGGCCGAAGCAGGGGGATCACTTGAGATCAGGAGTTTG AGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAA AATTAGCCAGGCGTGTTGGTGCGTGCCTGTAGTCCCAGCTACTCGGAGGC TGAGGCAGTAGAATG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0002 a0003c0009t0002	a0003c0009t0002g0105 a0003c0009t0002g0105	1	157	0.0064	664	c.-27 others(681): Show c.-27+3879_-27+3880insTTTCAGGGCAAGCAAGTTTATTATGAAA GTAAAATAGTGAAAGACTAGGTAATCCAGAGGCTGGGTGCAGTGGCTCAT GCCTATAATCCCAGCACTTTGGGAGCCCAAGGCATGTGGATCACCTGAGG TCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACT AAAAATACAAAAATTAGCCAGGCGTGTTGGTGCGTGCCTGTAGTCCCAGC TACTCGGAGGCTGAGGCAGTAGAATCACTTGAACCTAGGAGACAGAGGTT GCAGTGAGCCGAGATGGCGCCACTGTACTCCAGCCTGGGCGACAGAGTGA GACTCCATCTCCAAAAAATAAATAAATAAGTCAACCAAGAAGGCCGTACG TACAGTGGCTCACACCTGTCATCCCATCACTTTGGGAGGCCGAAGCAGGG GGATCACTTGAGATCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAA CCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGTTGGTGCGTGC CTGTAGTCCCAGCTACTCGGAGGCTGAGGCAGTAGAATGGCTTCAACTTG GGAGACGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTG GGTGACAGAATGAGACTCAGTCTAAAAAAAAAAAAA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
DPEP1_chr16_89608642_89643433	89619485	C C	CTGCCCCC others(657): Show CTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCCGCTCCCCTCC CTGCAGCTCCATGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCC TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTC CCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTC CCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTC CCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTC CCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCC CCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCC CCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCC CTCCCTGCAGCTCCA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02257.hp1 HG02630.hp1 others(2): Show HG01167.hp1 HG02257.hp1 HG02630.hp1 HG02647.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 others(2): Show a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0096 a0002c0002t0001g0033	5	236	0.0212	664	c.-10 others(683): Show c.-107+5795_-107+5796insATGCCCCCCCGCTCCCCTCCCTGCAG CTCCATGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCC CCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCA GCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCC CCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCC CCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCA GCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCC CCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCA GCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTC CCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGC CCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCT GCAGCTCCATGCCCCCCTGCTCCCCTCCCTGCAGCTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DUS3L_chr19_5780140_5796163	5787204	G G	GGTGGGAG others(657): Show GGTGGGAGGTCGTGGGAGATGGTGGGGAGGTAGTGGGAGACAGTGGCAGA CAGTGGGAGGTGGTGGGAGATGGTGGCAGACGGTGGGAGGTGGTGGGAGA CAGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGCAGGTGGTAGGAGA CGGTGGGAGGTGGTGGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAG GTAGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGGAGATGGTGAGA GGTGGTGGGAGACGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGA GACGGTGGGAGGTGGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAG GTGGGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTC GTGGGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGACGGTGGGAGGTG GTGGGAGACGGCGGGAGGTGGTGGGAGGTGGTGGGAGACGGCGGGAGGTG GTGGGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGATGGTGG GAGACGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCGGGAGATGGCGG GAGGTGGCAGGAGACGTGGGAGGTGGCAGGAGACGGTGGGAGGTGGTGGG AGGTGGTGGGAGACA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0082	1	164	0.0061	664	c.127 others(679): Show c.1279-34_1279-33insTGTCTCCCACCACCTCCCACCACCTCCCAC CGTCTCCTGCCACCTCCCACGTCTCCTGCCACCTCCCGCCATCTCCCGCC GCCTCCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCACCATCTCCGTCT CCCACCACTTCCCACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCT CCCACCACCTCCCACCACCTCCCGCCGTCTCCCACCACCTCCCACCGTCT CCCACCGTCTCCCACCACCTCCCACCATCTCCCACGACCTCCCACCATCT GCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTTCTCCGTCTCCCA CCACTTCCCACCACCTCCCACCACCTCCCACCGTCTCCCACCACCTCCCG CCGTCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCACCATCTCCCC ACCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCACCACATCCC ACCGTCTCCGAGTGTCTCCCCACCACCTCCCACCGTCTCCTACCACCTGC CACCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCACCACCTCC CACCGTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCACTGTCTCC CACTACCTCCCCACCATCTCCCACGACCTCCCAC	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding	7/12			chr19	TogoVar
EHMT1_chr9_137614005_137841127	137716219	T T	TTGGTGTC others(657): Show TTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGA AGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTG GGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGG TGTCATGGTGGGGGAAGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGT TGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGG GAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGT CATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGT GGTGGTGTCATGGTGGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGA AGTTGTGGTGGTGTCATGGTGGGGGGAGGAAGTTGTGGTGGTGTCATGGT GGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGGAGGAA GTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGG AGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGT GGGGGGAGGAAGTTG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0057 a0001c0003t0001g0057	1	127	0.0079	664	c.86- others(677): Show c.86-376_86-375insTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAGTT GTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGG AAGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCAT GGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTT GGTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGG AAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGT GGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGGGAGGAAGT TGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGG GAGGAAGTTGTGGTGGTGTCATGGTGGGGGGAGGAAGTTGTGGTGTCATG GTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGAGGAAGTT GTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EXD3_chr9_137301896_137428162	137327999	T T	TAAAAACA others(657): Show TAAAAACAACAAATAAAAACCCACATGATGAGTAAAAACAACGAACAAAC ACCCACGTGATGAGTAAAAACAACTAATATACACCCATATCATGAGTAAA AACAACTAATATACTCCCATATGATGAGTAAAAACAACTAATATACACCC ACATGATGAGTAAAAACAACGAATAAACACCCACATGATGAGTAAAAACA ATGAATATACACCCACATGAGTAAAAACAACTAATATACTCCCATATGAC GAGTAAAAACAACGAATATACACCCACATGATGAGTAAAAACAACAAACA CCCACATGATGAGTAAAAACAACTAATATACTCCCACATGATGAGTAAAA ACAACTAATATACTCCCATATGATGAGTAAAAACAACTAATATACACCCA CATGATGAGTAAAACAACTAATATACTCCCATATAATGAGTAAAACAACT AATATACTCCCATATGATGAGTAAAAACAATGAATATACACCCACATGAT GAGTAAAAACAACTAATATACTCCCATATGATGAGTAAAAACAACAAGTA CACACCCACATGATGAGTAAAAACAACTAATATACTCCCATATGAGGAGT AAAAACAACAAGTACACACCCACATGATGAGTAAAAACAACTAATATACA CCAATATGATGAGTA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	54	0.0185	664	c.199 others(683): Show c.1999-3857_1999-3856insTACTCATCATATTGGTGTATATTAGT TGTTTTTACTCATCATGTGGGTGTGTACTTGTTGTTTTTACTCCTCATAT GGGAGTATATTAGTTGTTTTTACTCATCATGTGGGTGTGTACTTGTTGTT TTTACTCATCATATGGGAGTATATTAGTTGTTTTTACTCATCATGTGGGT GTATATTCATTGTTTTTACTCATCATATGGGAGTATATTAGTTGTTTTAC TCATTATATGGGAGTATATTAGTTGTTTTACTCATCATGTGGGTGTATAT TAGTTGTTTTTACTCATCATATGGGAGTATATTAGTTGTTTTTACTCATC ATGTGGGAGTATATTAGTTGTTTTTACTCATCATGTGGGTGTTTGTTGTT TTTACTCATCATGTGGGTGTATATTCGTTGTTTTTACTCGTCATATGGGA GTATATTAGTTGTTTTTACTCATGTGGGTGTATATTCATTGTTTTTACTC ATCATGTGGGTGTTTATTCGTTGTTTTTACTCATCATGTGGGTGTATATT AGTTGTTTTTACTCATCATATGGGAGTATATTAGTTGTTTTTACTCATGA TATGGGTGTATATTAGTTGTTTTTACTCATCACGTGGGTGTTTGTTCGTT GTTTTTACTCATCATGTGGGTTTTTATTTGTTGTTTTT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137327999	T T	TAAAAACA others(657): Show TAAAAACAACAAATAAACACCCACATGATGAGTAAAAACAACGAACAAAC ACCCACGTGATGAGTAAAAACAACTAATATACACCCATATCATGAGTAAA AACAACTAATATACTCCCATATGATGAGTAAAAACAACTAATATACACCC ACATGATGAGTAAAAACAACGAATAAACACCCACATGATGAGTAAAAACA ATGAATATACACCCACATGAGTAAAAACAACTAATATACTCCCATATGAC GAGTAAAAACAACGAATATACACCCACATGATGAGTAAAAACAACAAACA CCCACATGATGAGTAAAAACAACTAATATACTCCCACATGATGAGTAAAA ACAACTAATATACTCCCATATGATGAGTAAAAACAACTAATATACACCCA CATGATGAGTAAAACAACTAATATACTCCCATATAATGAGTAAAACAACT AATATACTCCCATATGATGAGTAAAAACAATGAATATACACCCACATGAT GAGTAAAAACAACTAATATACTCCCATATGATGAGTAAAAACAACAAGTA CACACCCACATGATGAGTAAAAACAACTAATATACTCCCATATGAGGAGT AAAAACAACAAGTACACACCCACATGATGAGTAAAAACAACTAATATACA CCAATATGATGAGTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp1 others(17): Show HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG01884.hp1 HG01975.hp1 HG01993.hp2 HG02129.hp1 HG02647.hp2 HG02683.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG04204.hp1 NA18522.hp1 NA18951.hp2 NA18999.hp1 NA19043.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0011 a0015 a0017 a0027	a0001c0001 a0002c0002 a0003c0003 others(6): Show a0001c0001 a0002c0002 a0003c0003 a0005c0009 a0006c0005 a0011c0012 a0015c0022 a0017c0015 a0027c0017	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 a0005c0009t0001 a0006c0005t0001 a0011c0012t0001 a0015c0022t0001 a0017c0015t0001 a0027c0017t0001	a0001c0001t0001g0010 a0001c0001t0001g0057 a0001c0001t0001g0060 others(17): Show a0001c0001t0001g0010 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0002g0001 a0002c0002t0001g0011 a0002c0002t0001g0031 a0002c0002t0001g0048 a0002c0002t0001g0056 a0002c0002t0001g0062 a0002c0002t0001g0077 a0003c0003t0001g0025 a0003c0003t0001g0068 a0003c0003t0001g0074 a0005c0009t0001g0014 a0006c0005t0001g0053 a0011c0012t0001g0006 a0011c0012t0001g0046 a0015c0022t0001g0038 a0017c0015t0001g0073 a0027c0017t0001g0007	20	73	0.2740	664	c.199 others(683): Show c.1999-3857_1999-3856insTACTCATCATATTGGTGTATATTAGT TGTTTTTACTCATCATGTGGGTGTGTACTTGTTGTTTTTACTCCTCATAT GGGAGTATATTAGTTGTTTTTACTCATCATGTGGGTGTGTACTTGTTGTT TTTACTCATCATATGGGAGTATATTAGTTGTTTTTACTCATCATGTGGGT GTATATTCATTGTTTTTACTCATCATATGGGAGTATATTAGTTGTTTTAC TCATTATATGGGAGTATATTAGTTGTTTTACTCATCATGTGGGTGTATAT TAGTTGTTTTTACTCATCATATGGGAGTATATTAGTTGTTTTTACTCATC ATGTGGGAGTATATTAGTTGTTTTTACTCATCATGTGGGTGTTTGTTGTT TTTACTCATCATGTGGGTGTATATTCGTTGTTTTTACTCGTCATATGGGA GTATATTAGTTGTTTTTACTCATGTGGGTGTATATTCATTGTTTTTACTC ATCATGTGGGTGTTTATTCGTTGTTTTTACTCATCATGTGGGTGTATATT AGTTGTTTTTACTCATCATATGGGAGTATATTAGTTGTTTTTACTCATGA TATGGGTGTATATTAGTTGTTTTTACTCATCACGTGGGTGTTTGTTCGTT GTTTTTACTCATCATGTGGGTGTTTATTTGTTGTTTTT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137327999	T T	TAAAAACA others(657): Show TAAAAACAACAAATAAACACCCACATGATGAGTAAAAACAACGAACAAAC ACCCACGTGATGAGTAAAAACAACTAATATACACCCATATGATGAGTAAA AACAACTAATATACACCCACATGATGAGTAAAAACAACGAATAAACACCC ACATGATGAGTAAAAACAATGAATATACACCCACATGAGTAAAAACAACT AATATACTCCCATATGACGAGTAAAAACAACGAATATACACCCACATGAT GAGTAAAAACAACAAACACCCACATGATGAGTAAAAACAACTAATATACT CCCACATGATGAGTAAAAACAACTAATATACTCCCACATGATGAGTAAAA ACAACTAATATACTCCCATATGATGAGTAAAAACAACTAATATACACCCA CATGATGAGTAAAACAACTAATATACTCCCATATAATGAGTAAAACAACT AATATACTCCCATATGATGAGTAAAAACAATGAATATACACCCACATGAT GAGTAAAAACAACTAATATACTCCCATATGATGAGTAAAAACAACAAGTA CACACCCACATGATGAGTAAAAACAACTAATATACTCCCATATGAGGAGT AAAAACAACAAGTACACACCCACATGATGAGTAAAAACAACTAATATACA CCAATATGATGAGTA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0041 a0003c0003t0001g0041	1	54	0.0185	664	c.199 others(683): Show c.1999-3857_1999-3856insTACTCATCATATTGGTGTATATTAGT TGTTTTTACTCATCATGTGGGTGTGTACTTGTTGTTTTTACTCCTCATAT GGGAGTATATTAGTTGTTTTTACTCATCATGTGGGTGTGTACTTGTTGTT TTTACTCATCATATGGGAGTATATTAGTTGTTTTTACTCATCATGTGGGT GTATATTCATTGTTTTTACTCATCATATGGGAGTATATTAGTTGTTTTAC TCATTATATGGGAGTATATTAGTTGTTTTACTCATCATGTGGGTGTATAT TAGTTGTTTTTACTCATCATATGGGAGTATATTAGTTGTTTTTACTCATC ATGTGGGAGTATATTAGTTGTTTTTACTCATCATGTGGGAGTATATTAGT TGTTTTTACTCATCATGTGGGTGTTTGTTGTTTTTACTCATCATGTGGGT GTATATTCGTTGTTTTTACTCGTCATATGGGAGTATATTAGTTGTTTTTA CTCATGTGGGTGTATATTCATTGTTTTTACTCATCATGTGGGTGTTTATT CGTTGTTTTTACTCATCATGTGGGTGTATATTAGTTGTTTTTACTCATCA TATGGGTGTATATTAGTTGTTTTTACTCATCACGTGGGTGTTTGTTCGTT GTTTTTACTCATCATGTGGGTGTTTATTTGTTGTTTTT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
FOXP1_chr3_70949708_71588728	71435366	G G	GGAAGGGA others(657): Show GGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGAGGGACG GAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGA GGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACG GAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGA GGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACG GAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGA AGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGACGGAGG GAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAA GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAAGAA GGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGAAGGGAC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02922.hp1 HG01169.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0061 a0001c0001t0047 a0001c0001t0061	a0001c0001t0047g0071 a0001c0001t0061g0080 a0001c0001t0047g0071 a0001c0001t0061g0080	2	90	0.0222	664	c.-16 others(685): Show c.-168+58059_-168+58060insGTCCCTTCCTCCCTCCCTCCGTCC CTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCT CCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCC CTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCTTCCCT CCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCC CTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCTTCCCT CCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCC CTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCT CCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTC CTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCT CCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCC CTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCT CCGTCCCTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCC TTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GLIS1_chr1_53501239_53744164	53525463	A A	AGGCTGGG others(657): Show AGGCTGGGGAGGCTGGGGAGGTTGGGGGTGCTGGGAGTCTGGGGAGGCTG GGGAGGTGGGGGGCTGGGGAGGCTGGGGAGGTGGAGGCTGGGGAGGTGGG GAGGCTGGGGGCTGGGGGGCTGGGGAGGCTGGGGAGGTGGGGGGCTGGGG AGGCTGGGGAGGTGGGGGGCTGGGAAGGCTGGGGAGGTGGAGGCTGGGGA GGTGGGGAGGCTGGGGGCTGGGGGGCTGGGGAGGCTGGGGAGGTGGGGGG CTGGGGAGGCTGGGGAGGTGGGGGGCTGGGGAGGCTGGGGAGGTGGAGGC TGGGGAGGTGGGGAGGCTGGGGGCTGGGGGGCTGGGGAGGCTGGGGAGGT GGGGGGCTGGGGAGGCTGGGGAGGTGGGGGGCTGGGAAGGCTGGGGAGGT GGGGGGCTAAGAAGGCTGGGGGGCTGGGGTGCTGGGGAGGCTGGGGAGGT GGGGGCTGGGGAGGCTGGGGGGCTGGGGCGCTGGGGAGGCTGGGGAGGCT GGGGGTGCTGGGCAGGCTGAGGAGGTGGGGAGGCTGGGGGGGCAAGGGGT GGGGGAGGTAGGGAGGCTGGGGAGGCTGGGGGCGGGGGAGTCTGGGGAGG CTGGGGGGGTGGGGGGCTAGGAGGTGGGGGAGGCGGGGAGGCTGGGGAGG CTGGGGGGGCTGGGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	129	0.0078	664	c.148 others(681): Show c.1483-577_1483-576insCCCCAGCCCCCCCAGCCTCCCCAGCCTC CCCGCCTCCCCCACCTCCTAGCCCCCCACCCCCCCAGCCTCCCCAGACTC CCCCGCCCCCAGCCTCCCCAGCCTCCCTACCTCCCCCACCCCTTGCCCCC CCAGCCTCCCCACCTCCTCAGCCTGCCCAGCACCCCCAGCCTCCCCAGCC TCCCCAGCGCCCCAGCCCCCCAGCCTCCCCAGCCCCCACCTCCCCAGCCT CCCCAGCACCCCAGCCCCCCAGCCTTCTTAGCCCCCCACCTCCCCAGCCT TCCCAGCCCCCCACCTCCCCAGCCTCCCCAGCCCCCCACCTCCCCAGCCT CCCCAGCCCCCCAGCCCCCAGCCTCCCCACCTCCCCAGCCTCCACCTCCC CAGCCTCCCCAGCCCCCCACCTCCCCAGCCTCCCCAGCCCCCCACCTCCC CAGCCTCCCCAGCCCCCCAGCCCCCAGCCTCCCCACCTCCCCAGCCTCCA CCTCCCCAGCCTTCCCAGCCCCCCACCTCCCCAGCCTCCCCAGCCCCCCA CCTCCCCAGCCTCCCCAGCCCCCCAGCCCCCAGCCTCCCCACCTCCCCAG CCTCCACCTCCCCAGCCTCCCCAGCCCCCCACCTCCCCAGCCTCCCCAGA CTCCCAGCACCCCCAACCTCCCCAGCCTCCCCAGCC	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	5/10			chr1	TogoVar
GPIHBP1_chr8_143208218_143222170	143218331	A A	ATCCCCAA others(657): Show ATCCCCAACACCACCCCCAACACCATCCCCAACACCACCCCCAACACCAC CCAACACCACCCCCAACACCACCCAACACCACCCCACACCACCCCCAACA CCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACACC ACCCCCAACACCAGCCCCAACACCACCCCAATACCTCCCCAACACCACCC CCAACACCACCCCAACACCATCCCCAACACCACCCCCAATACCACCCCCA CACCACCCCCATCGCCCCCACACCGCCCCAACACCACCCCCAACACCACC CCCAACACCACCCCCAACATCACCCCCACCACCCCCACACCACCCCCACA CCACCCCCAACACCATCCCCAACACCAGCCCCAACACCACCCCCAACACC AGCCCCAACACCACCCCAATACCTCCCCAACACCACCCCCAACACCACCC AACACCATGCCCCACACCACCCCCAACACCACCCCCAACACCACCCCCAA CATCACCCCCACCACCCCCACACCACCCCCACACCACCCCCAACACCATC CCCAACACCAGCCCCAACACCACCCCCAACACCAGCCCCAACACCACCCC AATACCTCCCCAACACCACCCCCAACACCACCCAACACCATGCCCCACAC CACCCCCAACACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0004 a0001c0004t0004g0004	1	100	0.0100	664	c.28 others(675): Show c.2813_*2814insTCCCCAACACCACCCCCAACACCATCCCCAACAC CACCCCCAACACCACCCAACACCACCCCCAACACCACCCAACACCACCCC ACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAAC ACCACCCCCAACACCACCCCCAACACCAGCCCCAACACCACCCCAATACC TCCCCAACACCACCCCCAACACCACCCCAACACCATCCCCAACACCACCC CCAATACCACCCCCACACCACCCCCATCGCCCCCACACCGCCCCAACACC ACCCCCAACACCACCCCCAACACCACCCCCAACATCACCCCCACCACCCC CACACCACCCCCACACCACCCCCAACACCATCCCCAACACCAGCCCCAAC ACCACCCCCAACACCAGCCCCAACACCACCCCAATACCTCCCCAACACCA CCCCCAACACCACCCAACACCATGCCCCACACCACCCCCAACACCACCCC CAACACCACCCCCAACATCACCCCCACCACCCCCACACCACCCCCACACC ACCCCCAACACCATCCCCAACACCAGCCCCAACACCACCCCCAACACCAG CCCCAACACCACCCCAATACCTCCCCAACACCACCCCCAACACCACCCAA CACCATGCCCCACACCACCCCCAACACCAC	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1162		chr8	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(657): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATATAAA TATATATATAAATATATATATTTATATATAAATATATATATTTATATATA TATTTATATATAAATATATATATTTATATATAAATATATATATTTATATA TATAAATATATATATTTATATATATAAATATATATATATTTATATTTACA AATATATATATTTATATATATATTTATATTTATATATATTTATATTTATA TATATATATATAAATATATATTTATGTATATTTATATATAAATATAAATA TATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0133 a0001c0001t0036g0133	1	95	0.0105	664	c.-97 others(681): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATATAAATATATATATAAATATATATATTTATATATAAATATATATATTT ATATATATATTTATATATAAATATATATATTTATATATAAATATATATAT TTATATATATAAATATATATATTTATATATATAAATATATATATATTTAT ATTTACAAATATATATATTTATATATATATTTATATTTATATATATTTAT ATTTATATATATATATATAAATATATATTTATGTATATTTATATATAAAT ATAAATATATATTTATATATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TAATATAT others(657): Show TAATATATATATGGAATATATACGGAATATATATATAATATATATGGAAT ATATATATACGGAATATATATAATATATATACGGAATATATATATACGGA ATATATATAATATATATACGGAATATATATATAATATATAAATGGAATAT ATATACGGAATATATATATAATATATAAATGGAATATATATATACGGAAT ATATATATAATATATAAATGGAATATATATATACGGAATATATATATAAT ATATATATGGAATATATATATACGGAATATATATATAATATATATATGGA ATATATATATACGGAATATATATATAATATATATATGGAATATATATATA CGGAATATATATATTATATATATGGAATATATATATACGGAATATATATA TAATATATATATGGAATATATATACGGAATATATATATATGGATATATAT ACGGAATATATATATATGGAATATATATATATGGAATGTGTATATATGGA ATATATATATATGGAATGTGTATATATGGAATATATATATATGGAATGTG TATATATGGAATATATATATGGAATGTGTATATATGGAATATATATATGG AATATATATATGGAATATATATATGGAATATATATATGGAATATATATAT GGAATATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18957.hp1 NA18948.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0025 a0001c0001t0011g0025	2	63	0.0317	664	c.-21 others(675): Show c.-2147_-2146insAATATATATATGGAATATATACGGAATATATATA TAATATATATGGAATATATATATACGGAATATATATAATATATATACGGA ATATATATATACGGAATATATATAATATATATACGGAATATATATATAAT ATATAAATGGAATATATATACGGAATATATATATAATATATAAATGGAAT ATATATATACGGAATATATATATAATATATAAATGGAATATATATATACG GAATATATATATAATATATATATGGAATATATATATACGGAATATATATA TAATATATATATGGAATATATATATACGGAATATATATATAATATATATA TGGAATATATATATACGGAATATATATATTATATATATGGAATATATATA TACGGAATATATATATAATATATATATGGAATATATATACGGAATATATA TATATGGATATATATACGGAATATATATATATGGAATATATATATATGGA ATGTGTATATATGGAATATATATATATGGAATGTGTATATATGGAATATA TATATATGGAATGTGTATATATGGAATATATATATGGAATGTGTATATAT GGAATATATATATGGAATATATATATGGAATATATATATGGAATATATAT ATGGAATATATATATGGAATATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(657): Show TAAGAAAAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA19062.hp2 HG00609.hp1 NA19062.hp2	a0002 a0002	a0002c0003 a0002c0008 a0002c0003 a0002c0008	a0002c0003t0001 a0002c0008t0007 a0002c0003t0001 a0002c0008t0007	a0002c0003t0001g0128 a0002c0008t0007g0241 a0002c0003t0001g0128 a0002c0008t0007g0241	2	234	0.0085	664	c.127 others(683): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTCTTTTCTTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
IQSEC3_chr12_61767_183455	163376	C C	CCACAGAA others(657): Show CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGAGCCCTCCCCCTCCCCTCCCTCCACAGA ACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCT CCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCG GAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTC CCTCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCT CCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCG GACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTC CCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACTGGACC CCTCCCCTGTCCCCT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0199 a0001c0004t0003g0199	1	119	0.0084	664	c.258 others(681): Show c.2584-107_2584-106insAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCCTCCCCTC CCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGC CCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTC CACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTC CCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAA CCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTC CTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCCTC CTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTC CCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACA GAACTGGACCCCTCCCCTGTCCCCTCACAGAACCGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406062	T T	TCTTCCTC others(657): Show TCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTG ACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTG TGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGA CCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTG AGTGGACCTCTGTGACATCTCGGCTTCCTCAGGCCTTCAGTGTGTGTTTG TCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTG TGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTC AGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAG GCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTT CCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCT AGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACC TCTGTGACATCTAGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	266	0.0038	664	c.77 others(673): Show c.771_*772insCCTAGATGTCACAGAGGTCCACTCAGTGACAAACAC ACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGAC AAACACACACTGAAGGCCTGAGGAAGCCTAGATGTCACAGAGGTCCACTC AGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGT CCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGCCTAGATGTCAC AGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGA TGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAG ACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTG AGGAAGCCGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAA GGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACAC ACTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCAGTGACAC ACACTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCAGTGAC ACACACTGAAGGCCTGAGGAAGCCTAGATGTCACAGAGGTCCACTCAGTG ACAAACACACATTGAAGGCCTGAGGAAG	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	771		chr2	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(657): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGGAGGAGGAGGAAG TGAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGG GGAGGAGGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAG AGAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAGAG GGGGGAGGGAGAGGAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGAGGG GAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGAGTC CGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAGGAAGA GGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0041 a0001c0001t0017g0041	1	5	0.2000	664	c.-46 others(675): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCTCCTC CTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCCTCCT CCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTCTCCT CCTCCTCCTCTCTTCCTCCTCTCCCTCCCCCCTCTTCTCTCCTCCTCCCC TCCTTCCTCTCCTCCTCCTCCCCTCCTCTCTCTCCTCCTCCCCTCCTCCT CTCTCCTCCTCCCCTCCTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCC CTCTTCTCTCCTCCTCCCCTCCTTTCTCCTCCTCCTCCCCTCCTTTCTCC CTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCTCCTCCTTTCTCTT CTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTCCCCCTT TCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTCCCTTT CACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCCCTCAT CTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTCCCTCC TCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCCTCCTC CTCCTCTCTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KLHL15_chrX_23978720_24032186	23982660	C C	CAAAAAAA others(657): Show CAAAAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAG CTCCAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGA TGGAAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACT AAAATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAAC AATTGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATG TTTTGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAA TTCCAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTT GAGAAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGC AGTGGCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGAT CATCTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCC GTCTCTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTG TAATCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGA AGGTGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAG CAAGGCTCTGTCTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG01891.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0060 a0001c0001t0004g0062 a0001c0001t0004g0060 a0001c0001t0004g0062	2	12	0.1667	664	c.52 others(675): Show c.5260_*5261insTTAGACAGAGCCTTGCTCTGGCTGGAATGCAGTG GTGTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGTTCAAGTGATTCT CCTGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGCATGTGCCACCAT GCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGA CAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGTTCGGCCTCC CAACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCAGCCTACAACTTT TATTCTGATACCCATCATATCTGTATTTCTCAACGCAGAGTTCCAACCAT CTCCTGAACATCTCTCACTGTTGTATTGGAATTTCAAACTGAACAAGTGC AAATCTGAATACATTGTCTACTCCCCCAAAACATGCCACTTATCTTCTCT GTATTATCTGGCTTTACCATTGCCTACAATTGTTCATGTATAACCTCGGC ATGTCTCTCTCCCACTTAACCCCAACATTTTAGTTCATCCAGTTCTAGCA CTTTAAACTCTCAACTGCCCTCTCCTTTCCATCCATACTGTCCTAGTTCA GACCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTGATCATCTACCTC CATCATCCACTTTTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1059		chrX	TogoVar
KLHL15_chrX_23978720_24032186	23982660	C C	CAAAAAAA others(657): Show CAAAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAGC TCCAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGAT GGAAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACTA AAATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAACA ATTGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATGT TTTGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAAT TCCAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCCGCGTTG AGAAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGCA GTGGCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGATC ATCTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCCG TCTCTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTGT AATCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGAA GGTGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAGC AAGGCTCTGTCTAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0143 a0001c0001t0004g0143	1	11	0.0909	664	c.52 others(675): Show c.5260_*5261insTTTAGACAGAGCCTTGCTCTGGCTGGAATGCAGT GGTGTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGTTCAAGTGATTC TCCTGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGCATGTGCCACCA TGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGG ACAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGTTCGGCCTC CCAACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCAGCCTACAACTT TTATTCTGATACCCATCATATCTGTATTTCTCAACGCGGAGTTCCAACCA TCTCCTGAACATCTCTCACTGTTGTATTGGAATTTCAAACTGAACAAGTG CAAATCTGAATACATTGTCTACTCCCCCAAAACATGCCACTTATCTTCTC TGTATTATCTGGCTTTACCATTGCCTACAATTGTTCATGTATAACCTCGG CATGTCTCTCTCCCACTTAACCCCAACATTTTAGTTCATCCAGTTCTAGC ACTTTAAACTCTCAACTGCCCTCTCCTTTCCATCCATACTGTCCTAGTTC AGACCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTGATCATCTACCT CCATCATCCACTTTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1059		chrX	TogoVar
KLHL15_chrX_23978720_24032186	23982660	C C	CAAAAAAA others(657): Show CAAAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAGC TCCAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGAT GGAAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACTA AAATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAACA ATTGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATGT TTTGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAAT TCCAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTTG AGAAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGCA GTGGCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGATC ATCTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCCG TCTCTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTGT AATCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGAA GGTGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAGC AAGGCTCTGTCTAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp2 HG02809.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0037 a0001c0001t0004g0070 a0001c0001t0004g0037 a0001c0001t0004g0070	2	12	0.1667	664	c.52 others(675): Show c.5260_*5261insTTTAGACAGAGCCTTGCTCTGGCTGGAATGCAGT GGTGTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGTTCAAGTGATTC TCCTGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGCATGTGCCACCA TGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGG ACAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGTTCGGCCTC CCAACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCAGCCTACAACTT TTATTCTGATACCCATCATATCTGTATTTCTCAACGCAGAGTTCCAACCA TCTCCTGAACATCTCTCACTGTTGTATTGGAATTTCAAACTGAACAAGTG CAAATCTGAATACATTGTCTACTCCCCCAAAACATGCCACTTATCTTCTC TGTATTATCTGGCTTTACCATTGCCTACAATTGTTCATGTATAACCTCGG CATGTCTCTCTCCCACTTAACCCCAACATTTTAGTTCATCCAGTTCTAGC ACTTTAAACTCTCAACTGCCCTCTCCTTTCCATCCATACTGTCCTAGTTC AGACCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTGATCATCTACCT CCATCATCCACTTTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1059		chrX	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(657): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTGTCCCT CCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCC TCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	77	0.0130	664	c.-27 others(675): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LGR6_chr1_202188799_202324761	202204775	C C	CACACACA others(657): Show CACACACACACCTCCAAACACACACACACCCCTAACACACACCTCCTCCA AACACAAACCTCCAAACACACACACACACCTCCAAACACACACACACCTA ACACACACCTCCTCCAAACACACACACACTTCCAAACACACACACACCTC CAAACACACATACATCTCCAAACTCACACACACCTAACACACGCACCTAA CACACTCTTCCTTCAAACACACACACCTCCAAAGACACACACACACCTAA CACACACCTCCTTCAAACACACACACCTAACACACACCTCCTTCAAACAC ACACACACACCTCCAAACACACACACACCTAACACACACCTCCTTCAAAC ACACACACACCTCCAAACACACACACCTAACACACACCTCCTTCAAACAC ACACACACCTCTCCAAACACACACACACACCTAACACACCCCCCTTCAAA CACACACACCTCTCCAAAAACACACACACACCTAACACACACCTCCTTCA AACACACACACACCTCCAAACACAAACACACCTAACACACCCCTCCTTCA AACACACACACCTCAAAACACACACACCTCAAAACACACACACATACCTA ACACACACCTCCTTCAAACACACACACCTCCAAACACACACACACCTAAC ACACACCTCTTTCAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02615.hp2 HG02451.hp1 HG02615.hp2	a0001 a0003 a0001 a0003	a0001c0028 a0003c0025 a0001c0028 a0003c0025	a0001c0028t0004 a0003c0025t0004 a0001c0028t0004 a0003c0025t0004	a0001c0028t0004g0046 a0003c0025t0004g0098 a0001c0028t0004g0046 a0003c0025t0004g0098	2	5	0.4000	664	c.212 others(683): Show c.212+10584_212+10585insCTCCAAACACACACACACCCCTAACA CACACCTCCTCCAAACACAAACCTCCAAACACACACACACACCTCCAAAC ACACACACACCTAACACACACCTCCTCCAAACACACACACACTTCCAAAC ACACACACACCTCCAAACACACATACATCTCCAAACTCACACACACCTAA CACACGCACCTAACACACTCTTCCTTCAAACACACACACCTCCAAAGACA CACACACACCTAACACACACCTCCTTCAAACACACACACCTAACACACAC CTCCTTCAAACACACACACACACCTCCAAACACACACACACCTAACACAC ACCTCCTTCAAACACACACACACCTCCAAACACACACACCTAACACACAC CTCCTTCAAACACACACACACCTCTCCAAACACACACACACACCTAACAC ACCCCCCTTCAAACACACACACCTCTCCAAAAACACACACACACCTAACA CACACCTCCTTCAAACACACACACACCTCCAAACACAAACACACCTAACA CACCCCTCCTTCAAACACACACACCTCAAAACACACACACCTCAAAACAC ACACACATACCTAACACACACCTCCTTCAAACACACACACCTCCAAACAC ACACACACCTAACACACACCTCTTTCAAACACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LINGO2_chr9_27932617_29218601	28189380	G G	GAAGGAAG others(657): Show GAAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGGA AGGAAGGGAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAG GGAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGA AGGGAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAG GGAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGA AGGAAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGAAG AAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGG AGGGAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGAAG GAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGAAGGAAGGG AGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGAAGAAAGGAAGGAAGGGAG GGAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGGAGGA AGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAG GAAGGAAGGAAGGGAGGGAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGA AGGGAGGGAGGAAGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0012 a0001c0001t0015g0012	1	61	0.0164	664	c.-36 others(685): Show c.-36+105827_-36+105828insTCTTCCTCCCTCCCTTCCTTCCTT CCTTCCTTCCTTCCTCCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCC TTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTT CCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCC TTCCTTTCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTT CCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCC TTCCTTCCTCCCTTCCTTCCTTCCTTCCTCCCTTCCTCCCTCCCTTCCTT CCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTTTCTTCCTCCC TTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTCCTCCCTC CCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTCC TTCCTTCCTCCCTTCCTTCCTTCCTTCCTCCCTTCCTCCCTTCCTTCCTT CCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTCCCTTCCTTCC TCCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTC CCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LORICRIN_chr1_153254687_153267124	153256755	A A	ATAAAACT others(657): Show ATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACAT ATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAG TCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTAT ATATAGTTATATGTATATAAAACTATAGTCATATATGTATATAAAACTAT ATATAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAA AACTATATACAGTCATATATGTATATAAAATTATATACAGTCATATATGT ATATAAAACTATATACAGTCATGTATGTATATAAAACTATACAGTCATAT ATGTATATAAAACTATACAGTCATATATGTATATAAAACTATATATAGTC ATATATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATAT AGTTATATATGTATATAAAACTATAGTTATATATGTATGTAAAACTATAG TTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTT ATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTAT ATATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACTATATAC AGTTATGTATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02970.hp2 HG02922.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	171	0.0117	664	c.-30 others(675): Show c.-3002_-3001insTAAAACTATATATAGTCACATATGTATATAAAAC TATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATA TAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATA TGTATATAAAACTATATATAGTTATATGTATATAAAACTATAGTCATATA TGTATATAAAACTATATATAGTCATATATGTATATAAAACTATATACAGT CATATATGTATATAAAACTATATACAGTCATATATGTATATAAAATTATA TACAGTCATATATGTATATAAAACTATATACAGTCATGTATGTATATAAA ACTATACAGTCATATATGTATATAAAACTATACAGTCATATATGTATATA AAACTATATATAGTCATATATGTATATAAAACTATATATAGTCATATATG TATATAAAACTATATAGTTATATATGTATATAAAACTATAGTTATATATG TATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTA TGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATG TAAAACTATAGTTATATATGTATGTAAAACTATATACAGTTATGTATGTA TGTAAAACTATATACAGTTATGTATGTATG	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2931		chr1	TogoVar
LRRC27_chr10_132327193_132386508	132364366	C C	CTTACACC others(657): Show CTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCA CACTTACACCCACACTTACATCTACCTCCACACCCGCACTTACATCCACC CACACTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACA CCCACACTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTA CACCCACACTTACATCTACCTCCACACCCACACTCACACCCACCCACACT TACACCCACACTTACATCTACCTCCACACCCACACTCACACCCACCCACA CTTACACCCACACTTACATCTACCTCCACACCCACACTCACACCCACCCA CACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCATG CTTACATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCCA CCCACACTCACACCCACCCACACTCACACCCACCCACACTTACACTCATG CTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCA CCCTTACATCTACCTCCACACCCGCGCTTACACCCACGCTTACATCTACC TCCACGCCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTA CCTCCACACCCACAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	286	0.0035	664	c.129 others(683): Show c.1290-1046_1290-1045insTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCCGCAC TTACATCCACCCACACTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTTACACCCACACTTACATCTACCTCCACACCCACACTCACACCC ACCCACACTTACACCCACACTTACATCTACCTCCACACCCACACTCACAC CCACCCACACTTACACCCACACTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACAC TTACACCCATGCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTCACACCCACCCACACTCACACCCACCCACACTCACACCCACCCACAC TTACACTCATGCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACCCTTACATCTACCTCCACACCCGCGCTTACACCCACGC TTACATCTACCTCCACGCCCACACTCACACCCACCCACACTTACACCCAC CCTTACATCTACCTCCACACCCACAATTACACCCACCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364447	A A	ACCCACAC others(657): Show ACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACAATTACAC CCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTCAC ACCCACGCTTACATCTACCTCCACACCCGCGCTTACACCCACACTTACAT CTACCTCCACACCCACACTCACACCCACCCTTACATCTACCTCCACACCC ACACTCACACCCATGACCACACCCACACTTACATCTACCTCCACACCCAC AATTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACAC CCACACTCACACCCACCCACACTTACACCCACACTTACATCTACCTCCAC ACCCACACTCACACCCACCCTTACATCTACCTCCACACCCACAATTACAC CCACCCACACTTACACCCACACTTACATCTACCTCCACACCCACACTTAC ACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTT ACACCCACCCTTACATCTACCTCCACACCCACAATTACACCCACCCTTAC ATCTACCTCCACACCCACAATTACACCCACCCACACTTACACCCACACTT ACATCTACCTCCACG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0071 a0001c0001t0029g0071	1	260	0.0038	664	c.129 others(681): Show c.1290-969_1290-968insTACACCCACGCTTACATCTACCTCCACA CCCACAATTACACCCACCCTTACATCTACCTCCACACCCACACTCACACC CACCCACACTCACACCCACGCTTACATCTACCTCCACACCCGCGCTTACA CCCACACTTACATCTACCTCCACACCCACACTCACACCCACCCTTACATC TACCTCCACACCCACACTCACACCCATGACCACACCCACACTTACATCTA CCTCCACACCCACAATTACACCCACCCACACTTACACCCACGCTTACATC TACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACA TCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACACTTA CATCTACCTCCACACCCACACTCACACCCACCCTTACATCTACCTCCACA CCCACAATTACACCCACCCACACTTACACCCACACTTACATCTACCTCCA CACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACA CCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACAATTA CACCCACCCTTACATCTACCTCCACACCCACAATTACACCCACCCACACT TACACCCACACTTACATCTACCTCCACGCCCACACT	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(657): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCACGCC TGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGA GACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAA TATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCT GAGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGAC AAAAGTACCTTCTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGG CTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCTCCCAGG TTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0337 a0002c0002t0002g0337	1	194	0.0052	664	c.56 others(675): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAGAAGGTACTTTTGTCAAGGTAACTGGATATA ACTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGT CACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAGCTCCGC CTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCACGCTCGGCTAATATTTTTGTATTTTTAGTAGA GACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCCTGACCTCGTG ATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCAC TGCGCCTGGCGAGAACATTTTTTTTTTAACAGTTAATTGGCCGGGCGTGG TGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGGTGGATC ATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACATGGTGAAACCC CGTCTCTACTAAAAACACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCT GTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(657): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCA AAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAACTGTT TAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATCCCA GCACTTTGGGAGGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGAGA CCATCCTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAAAA TTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCTGA GATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCTCA AAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAAAGTACCTT CTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGG CTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCTCCCAGG TTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0196 a0002c0002t0004g0196	1	194	0.0052	664	c.56 others(675): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGT AACTGGATATAACTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCT GTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAGCTCC GCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTTTAGTA GAGACAGGTTTCACTGTGTTAGCAAGGATGGTCTCGATCTCCTGACCTCG TGATCTGCCCGCCTTGGCCCTCCCAAAGTGCTGGGATTACAGGCATGAGC CACTGCGCCTGGCGAGAACATTTTTTTTTTAAACAGTTAATTGGCCGGGC GTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGGTG GATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCC CGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGGGTGCCT GTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(657): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCA AAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAACTGTT TAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATCCCA GCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGAGAC CATCCTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAAAAT TAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCTGAG ATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCTCAA AAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAAAGTACCTTC TTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGG CTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCTCCCAGG TTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	194	0.0052	664	c.56 others(675): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGG TAACTGGATATAACTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTC TGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAGCTC CGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTTTAGT AGAGACAGGTTTCACTGTGTTAGCAAGGATGGTCTCGATCTCCTGACCTC GTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGC CACTGCGCCTGGCGAGAACATTTTTTTTTTAAACAGTTAATTGGCCGGGC GTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGGTG GATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGGGTGCCT GTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(657): Show TCTGCTCTCCCCTCCCCTCCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCT CCCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTC TCTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTC CCGTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCC TCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCT CCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCC CTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCC TCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCC CTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0001 a0010c0020t0001	a0010c0020t0001g0121 a0010c0020t0001g0121	1	4	0.2500	664	c.114 others(683): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCCTCCC CTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCT CCTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCG TCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCC TCCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCCCT CCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCC TCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCT CCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(657): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATAATATATATTATAT ATATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTA TATATATAATATATATAATATATATAAAGTATATATATAATATATATAAT ATATATTATATATATAAAGTATATATATAATATATATAATATATATTATA TATATAAAGTATATATATTATATATATAATATATATTATATATATAAAGT ATATATATTATATATATAATATATATTATATATAAAGTATATATATAATA TATATAATATATATTATATATATAAAGTATATATATAATATATATAATAT ATATTATATATATAAAGTATATATATAATATATATAATATATATTATATA TATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTAT ATATATAATATATATAATATATATTATATATATAAAGTATATATATAATA TATATAATATATATTATATATATAAAGTATATATATAATATATATTATAT ATAAAGTATATATATAATATATATTATATATATATAAAATATATAATATA TATTATATATATAAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0252 a0001c0001t0004g0252	1	2	0.5000	664	c.730 others(681): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATATAATATATATTATATATATTATATATATACTTTATATAT ATAATATATATTATATATATTATATATATACTTTATATATATAATATATA TTATATATATTATATATATACTTTATATATATAATATATATTATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATAATATATATTATATATATAATATATATACTTTATATATAT AATATATATTATATATATAATATATATACTTTATATATATAATATATATT ATATATATTATATATATACTTTATATATATAATATATATTATATATATTA TATATATACTTTATATATATTATATATATTATATATATACTTTATATATA TAATATATATTATATATATTATATATATACTTTATATATATAATATATAT TATATATATTATATATATACTTTATATATATAATATATATTATATATATT ATATATATACTTTATATATATAATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(657): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATAATATATATTATAT ATATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTA TATATATAATATATATTATATATATAAAGTATATATATAATATATATAAT ATATATTATATATATAAAGTATATATATAATATATATAATATATATTATA TATATAAAGTATATATATTATATATATAATATATATTATATATATAAAGT ATATATATAATATATATAATATATATTATATATAAAGTATATATATAATA TATATAATATATATTATATATATAAAGTATATATATAATATATATAATAT ATATTATATATATAAAGTATATATATAATATATATAATATATATTATATA TATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTAT ATATATAATATATATAATATATATTATATATATAAAGTATATATATAATA TATATAATATATATTATATATATAAAGTATATATATAATATATATTATAT ATAAAGTATATATATAATATATATTATATATATATAAAATATATAATATA TATTATATATATAAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0253 a0001c0001t0004g0253	1	2	0.5000	664	c.730 others(681): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATATAATATATATTATATATATTATATATATACTTTATATAT ATAATATATATTATATATATTATATATATACTTTATATATATAATATATA TTATATATATTATATATATACTTTATATATATAATATATATTATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATAATATATATTATATATATTATATATATACTTTATATATAT AATATATATTATATATATAATATATATACTTTATATATATAATATATATT ATATATATTATATATATACTTTATATATATAATATATATTATATATATTA TATATATACTTTATATATATAATATATATTATATATATACTTTATATATA TAATATATATTATATATATTATATATATACTTTATATATATAATATATAT TATATATATTATATATATACTTTATATATATAATATATATTATATATATT ATATATATACTTTATATATATAATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCCTCCTC others(657): Show TCCTCCTCCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCCTCTCCTCTCCTCCTCCCTCTCCTCTCCTTCCTCTCCTCTC CTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCCTCTCCTCTCCTCTCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCTCCCTCCTCCTCTCCT CTCCTCCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCTC TCTCCCCTCTCCTCCCCTCTCCTCCCCTCTCCCTCCCCTCCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCCCCCTCCCCCCCCCTCCCCCTCCCCCCCTCCCCCTTCCCTCTCCC CTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0108 a0001c0002t0005g0108	1	206	0.0049	664	c.433 others(681): Show c.433+1028_433+1029insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGGAGGGGGGGAGGGGGAGGGGGGGGGAGGGGGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGAGGGAGAGGGGAGGAGAGGGGAGGAGAGGGGAGAGAGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGGAGGAGAGGAGAGGAGGAG GGAGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAA GGAGAGGAGAGGGAGGAGGAGAGGAGAGGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGGAGGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar

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