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
C17orf67_chr17_56786913_56838920	56792730	A A	ATGATGGT others(656): Show ATGATGGTGATGATGGGGTGATGGTGATGGTGGTGAGAGTGGTGGTGGGG GTGGTAGTGGTGGAGATGGAGGTAGTGGTGATGGTGACGATGGTAGTGAT GGTGGTGGTGGTGGTGGTGGTGGTGACAGTGATGATGATGGTGAGAGTGG TGGTGGTGGTGGTCATGGTGGTGGTGGTGGTGGTGGTGATGGTAATGATG GGGGTGACGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGGTGATGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGA TAGTGATGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGATG ATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGACGGTGATGGTGGTGAT GGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGA TGGTGGTGATGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGATG GTGGTGATGGTGATGGTGGCAGTGATGGTGGTGATGGTGGTGGTGGTGAT GGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATG GTGGTGATGGTGAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0128 a0001c0001t0001g0129	2	87	0.0230	663	c.21 others(678): Show c.21-379_*21-378insATCACCATCACCACCATCACCACCACCACC ACCACCATCACCACCACCACCATCACCATCACCACCACCACCATCACCAC CACCACCACCATCACCACCATCACCACCATCACCATCACCACCACCACCA TCACCACCATCACTGCCACCATCACCATCACCACCATCACCACCATCACC ACCATCATCACCACCACCACCACCATCACCACCATCATCACCATCACCAC CACCACCACCACCACCATCACCATCACCACCACCATCACCACCATCACCG TCACCACCATCACCACCACCACCATCACCACCATCATCACCATCACCACC ACCATCACCACCACCATCACCACCATCATCACTATCACCACCATCACCAC CATCATCACCACCACCACCACCACCATCACCACCACCATCACCACCATCA CCATCACCACCATCATCACCACCACCGTCACCCCCATCATTACCATCACC ACCACCACCACCACCACCATGACCACCACCACCACCACTCTCACCATCAT CATCACTGTCACCACCACCACCACCACCACCACCATCACTACCATCGTCA CCATCACCACTACCTCCATCTCCACCACTACCACCCCCACCACCACTCTC ACCACCATCACCATCACCCCATCATCACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
CACNA1C_chr12_2047987_2702950	2520769	G G	GTGTGCTT others(656): Show GTGTGCTTCATAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGC CGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGG CCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATG GCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAAT GGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAA TGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCA ATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCC AATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCC CAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGC CCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTG CCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATT GCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCAT TGACCAATGGCCGTGTGCTTCATAGGAGGGAAGCCATGACAGTCTTCTCA TTGACCAATGGCCA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03098.hp2 HG02965.hp2 HG03098.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0028 a0001c0001 a0006c0028	a0001c0001t0003 a0006c0028t0006 a0001c0001t0003 a0006c0028t0006	a0001c0001t0003g0068 a0006c0028t0006g0051 a0001c0001t0003g0068 a0006c0028t0006g0051	2	88	0.0227	663	c.139 others(682): Show c.1390+7876_1390+7877insCCCAATGGCCGTGTGCTTCAGAGGAG GGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGA GGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGG AGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAG GAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGA GGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAG AGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCA GAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTC AGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTT CAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCT TCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGC TTCATAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCATGTG CTTCATAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGT GCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2520779	T T	TAGGAGGG others(656): Show TAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTC AGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTT CAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCT TCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGC TTCAGAGGAGGGAAGCCGTGACAGTCTTCTCATTGCCCAATGGCCGTGTG CTTCAGAGGAGGGAAGCCGTGACAGTCTTCTCATTGCCCAATGGCCGTGT GCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTG TGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGT GTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCG TGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCC GTGTGCTTCATAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGC CGTGTGCTTCATAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGG CCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATG GCCGTGTGCTTCAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0007 a0001c0025t0007	a0001c0025t0007g0014 a0001c0025t0007g0014	1	70	0.0143	663	c.139 others(682): Show c.1390+7876_1390+7877insCCCAATGGCCGTGTGCTTCAGAGGAG GGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGA GGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGG AGGGAAGCCGTGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAG GAGGGAAGCCGTGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGA GGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAG AGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCA GAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTC AGAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCTT CATAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCT TCATAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGC TTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTG CTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGT GCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNG6_chr19_53986637_54017666	53991080	A A	ACCCCCAG others(656): Show ACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCT CCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACC CAGGAGTCCAGACCCCCAGCACCTCCTCCCTCAGACCCAGGAGTCCAGGC CCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAGCCCCTCC TCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCA GGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCC CAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCACCTCCTCC CTCAGACCCAGGAGTCCAGGCCCCAGCACCTCCTCCTTCAGACACAGGAG TTCAGGCCCCAGTCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGC CCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCA GACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCC AGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCC TCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCACCTCCTCCCTCAGAC CCAGGAGTCCAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	118	0.0085	663	c.-17 others(674): Show c.-1798_-1797insCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCC AGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCC CTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCACCTCCTCCCTCAGA CCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTCAG GCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCT CCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACC CAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACC CCCAGCACCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCACCTCCTC CTTCAGACACAGGAGTTCAGGCCCCAGTCCCTCCTCCCTCAGACCCAGGA GCCCAGGCCCCCAGCCCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCCCA GCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCT CAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGT CCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCA CCTCCTCCCTCAGACCCAGGAGTCCAGGC	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		556		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53991080	A A	ACCCCCAG others(656): Show ACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCT CCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACC CAGGAGTCCAGACCCCCAGCACCTCCTCCCTCAGACCCAGGAGTCCAGGC CCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAGCCCCTCC TCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCA GGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCC CAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCACCTCCTCC CTCAGACCCAGGAGTCCAGGCCCCAGCACCTCCTCCTTCAGACACAGGAG TTCAGGCCCCAGTCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGC CCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCA GACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCC AGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCC TCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCACCTCCTCCCTCAGAC CCAGGAGTCCAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0083 a0001c0001t0036g0083	1	108	0.0093	663	c.82 others(674): Show c.8231_*8232insCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCC AGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCC CTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCACCTCCTCCCTCAGA CCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTCAG GCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCT CCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACC CAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACC CCCAGCACCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCACCTCCTC CTTCAGACACAGGAGTTCAGGCCCCAGTCCCTCCTCCCTCAGACCCAGGA GCCCAGGCCCCCAGCCCCTCCTCCCTCAGACTCAGGAGCCCAGGCCCCCA GCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCT CAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGT CCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCA CCTCCTCCCTCAGACCCAGGAGTCCAGGC	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		866		chr19	TogoVar
CCDC6_chr10_59783747_59911556	59882384	G G	GGGGAGAA others(656): Show GGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAG AAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAA AGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGA AAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGC CGGCGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGC GGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCAGGGGGA GAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAG GAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAA GGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAA AGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCC GGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGG GGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGCGGGAG AAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGG AAAGGAAAGCCGGC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0120 a0001c0011t0002g0120	1	221	0.0045	663	c.303 others(682): Show c.303+23737_303+23738insGCCGGCTTTCCTTTCCTTCTCCCGCC GGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCT TTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCC TTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTC CTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTC TCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCC CGCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCG GCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCTGGCTT TCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCT TTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCC TTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCT CCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCC CCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTT CCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC6_chr10_59783747_59911556	59882475	G G	GCGGGAGA others(656): Show GCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGG GAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGA AGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGA AAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGG AAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAG CCGGCGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGG GGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGG AGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAA GGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAA AGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGA AAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGC CGGCGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCAGG GGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGA AGGAAAGGAAAGCC	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19030.hp1 HG03130.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0130 a0001c0001t0006g0131 a0001c0001t0006g0130 a0001c0001t0006g0131	2	245	0.0082	663	c.303 others(682): Show c.303+23646_303+23647insGGCTTTCCTTTCCTTCTCCCCGGCTT TCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCT TTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCC TTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCT CCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCC CCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGG CTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCTTT CCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTT TCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCT TCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTC CCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGC CGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGGC TTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTC CTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCG	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCN4_chr8_133186039_133236690	133214085	T T	TTATACAT others(656): Show TTATACATACACTATATAGTAGTTATATATACTACATATACACTATATAT AGTAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTA TATATACACTATATATAGTAGTTATATATACTATATATACACTATATATA GTAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTAT ATATACACTATATATAGTTTATATATACTATATATAAACTATATATAGTA GTTATATATACTACTATATATACTACTATATATAGTATATACTATATATA CACTATATAGTAGTTATATATACTACTATATATACTACTATATATAGTAT ATACTATATATACACTATATATACACTATATATAGCATATATACTATATA TACACTATATATAGCATATATACTATATATACACTATATATAGTAGTTAT ATATACTATATATACACTATACATACACTATATATAGTTTATATATACTA TATATAGTAGTTATATATACTATATATACTATATATAGTAGTTATATATA CTATATATACTATATATAGTTTATATATATACTATATATACTATATATAG TAGTTATATAAACTATATATAGTATATATAGTAGTTATATATAACTACTA TATAACAGTAGTTA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA19067.hp1 NA18993.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0323 a0001c0001t0001g0314 a0001c0001t0001g0323	2	392	0.0051	663	c.349 others(678): Show c.349+946_349+947insCATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTTTATATATACTATATAT AAACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAG TATATACTATATATACACTATATAGTAGTTATATATACTACTATATATAC TACTATATATAGTATATACTATATATACACTATATATACACTATATATAG CATATATACTATATATACACTATATATAGCATATATACTATATATACACT ATATATAGTAGTTATATATACTATATATACACTATACATACACTATATAT AGTTTATATATACTATATATAGTAGTTATATATACTATATATACTATATA TAGTAGTTATATATACTATATATACTATATATAGTTTATATATATACTAT ATATACTATATATAGTAGTTATATAAACTATATATAGTATATATAGTAGT TATATATAACTACTATATAACAGTAGTTATATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CECR2_chr22_17364460_17563151	17524554	G G	GGCTAATT others(656): Show GGCTAATTTTTTGTATTGTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTTTTCTG TTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTTTCTTA GATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATAACAGA TCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATAAGTGT ATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGATTTGGC TTTTTTAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTGGCTAA GAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAAAGTTA CTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCCCAGGCT GGAGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCGGGTT CTCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACC CACTACCACGCCCA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0294 a0001c0001t0033g0294	1	85	0.0118	663	c.110 others(680): Show c.1108+299_1108+300insGTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTT TTCTGTTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTT TCTTAGATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATA ACAGATCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATA AGTGTATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGAT TTGGCTTTTTTAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTG GCTAAGAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAA AGTTACTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCCC AGGCTGGAGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCC GGGTTCTCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCACCCACTACCACGCCCAGCTAATTTTTTGTATT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CFAP46_chr10_132803392_132947570	132852218	T T	TTTACTTA others(656): Show TTTACTTAAGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCC ATTTACTTAGGAATTCTCAGATCCCGATCCACAGACGTGGTATGTTCCTC CATTTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCT CCATTTACTTAGGAATTCTCAGATCCCAATCCACAGACGTGGTATGTTCC TCCATTTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTC CTCCATTTACTTAAGAATTCTCAGATCCTGATCCACAGACGTGGTATGTT CCTCCAGTTACTTAGGAATTCTCAGATCCTGATCCACAGACGTGGTATGT TCCTCCATTTACTTAAGAATTCTCAGATCCTGATCCACAGACGTGGTATG TTCCTCCATTTATGTAGGAATTCTCAGATCCTGATCCACAGACGTGGTAT GTTCCTCCATTTATGTAGGAATTCTCAGATCCTGATCCACAGACGTGGTA TGTTCCTCCATTTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGT ATGTTTCTCCATTTACTTAGACATTCTCAGATCCTGATCCACAGACGTGG TATGTTTCTCCATTTACTTAGACATTCTCAGATCCTGATCCACAGACGTG GTATGTTCCTCCAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00741.hp1 HG01123.hp1 others(20): Show HG00544.hp2 HG00741.hp1 HG01123.hp1 HG01891.hp1 HG02055.hp2 HG02109.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02717.hp2 HG02809.hp1 HG02895.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG06807.hp2 NA18522.hp2 NA19004.hp2 NA20300.hp1 NA20905.hp2	a0008 a0009 a0015 others(9): Show a0008 a0009 a0015 a0019 a0020 a0023 a0027 a0028 a0037 a0043 a0053 a0075	a0008c0009 a0008c0097 a0009c0018 others(12): Show a0008c0009 a0008c0097 a0009c0018 a0015c0022 a0015c0061 a0019c0027 a0020c0024 a0023c0099 a0023c0100 a0027c0036 a0028c0062 a0037c0064 a0043c0093 a0053c0063 a0075c0098	a0008c0009t0001 a0008c0009t0002 a0008c0097t0001 others(13): Show a0008c0009t0001 a0008c0009t0002 a0008c0097t0001 a0009c0018t0001 a0015c0022t0001 a0015c0061t0001 a0019c0027t0002 a0020c0024t0001 a0023c0099t0002 a0023c0100t0002 a0027c0036t0001 a0028c0062t0001 a0037c0064t0001 a0043c0093t0001 a0053c0063t0001 a0075c0098t0002	a0008c0009t0001g0119 a0008c0009t0001g0122 a0008c0009t0001g0123 others(20): Show a0008c0009t0001g0119 a0008c0009t0001g0122 a0008c0009t0001g0123 a0008c0009t0001g0124 a0008c0009t0002g0101 a0008c0097t0001g0120 a0009c0018t0001g0146 a0009c0018t0001g0228 a0015c0022t0001g0211 a0015c0022t0001g0212 a0015c0061t0001g0210 a0019c0027t0002g0026 a0019c0027t0002g0078 a0020c0024t0001g0215 a0020c0024t0001g0216 a0023c0099t0002g0017 a0023c0100t0002g0018 a0027c0036t0001g0144 a0028c0062t0001g0214 a0037c0064t0001g0218 a0043c0093t0001g0121 a0053c0063t0001g0217 a0075c0098t0002g0023	23	240	0.0958	663	c.557 others(680): Show c.5575-914_5575-913insCTGGAGGAACATACCACGTCTGTGGATC AGGATCTGAGAATGTCTAAGTAAATGGAGAAACATACCACGTCTGTGGAT CAGGATCTGAGAATGTCTAAGTAAATGGAGAAACATACCACGTCTGTGGA TCAGGATCTGAGAATGTCTAAGTAAATGGAGGAACATACCACGTCTGTGG ATCAGGATCTGAGAATTCCTACATAAATGGAGGAACATACCACGTCTGTG GATCAGGATCTGAGAATTCCTACATAAATGGAGGAACATACCACGTCTGT GGATCAGGATCTGAGAATTCTTAAGTAAATGGAGGAACATACCACGTCTG TGGATCAGGATCTGAGAATTCCTAAGTAACTGGAGGAACATACCACGTCT GTGGATCAGGATCTGAGAATTCTTAAGTAAATGGAGGAACATACCACGTC TGTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGGAACATACCACGT CTGTGGATTGGGATCTGAGAATTCCTAAGTAAATGGAGGAACATACCACG TCTGTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGGAACATACCAC GTCTGTGGATCGGGATCTGAGAATTCCTAAGTAAATGGAGGAACATACCA CGTCTGTGGATCAGGATCTGAGAATTCTTAAGTAA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	39/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132852242	A A	AATCCACA others(656): Show AATCCACAGACGTGGTATGTTCCTCCATTTACTTAGACATTCTCAGATCC TGATCCACAGACGTGGTATGTTCCTCCATTTACTTAAGAATTCTCAGATC CTGATCCACAGACGTAGTATGTTCCTCCAGTTACTTAGGAATTCTCAGAT CCTGATCCACAGACGTGGTATGTTCCTCCATTTACTTAAGAATTCTCAGA TCCTGATCCACAGACGTGGTATGTTCCTCCATTTACGTAGGAATTCTCAG ATCCTGATCCACAGACGTGGTATGTTCCTCCATTTACTTAGACATTCTCA GATCCTGATCCACAGACGTGGTATGTTTCTCCATTTACTTAGACATTCTC AGATCCTGATCCACAGACGTGGTATGTTTCTCCATTTACTTAGACATTCT CAGATCCTGATCCACAGACGTGGTATGTTCCTCCAGTTACTTAGGAATTC TCAGATCCTGATCCACAGACGTGGTATGTTTCTCCATTTACTTAGACATT CTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATTTACGTAGGAAT TCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATTTACTTAGACA TTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATTTACTTAGGA ATTCTCAGATCCTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00642.hp2 others(8): Show HG00099.hp2 HG00323.hp1 HG00642.hp2 HG01099.hp2 HG01106.hp1 HG01346.hp1 HG01952.hp1 HG02602.hp2 HG03704.hp2 HG04184.hp2 HG06807.hp1	a0004 a0036 a0058 others(1): Show a0004 a0036 a0058 a0061	a0004c0005 a0036c0092 a0058c0048 others(1): Show a0004c0005 a0036c0092 a0058c0048 a0061c0049	a0004c0005t0001 a0004c0005t0002 a0036c0092t0001 others(2): Show a0004c0005t0001 a0004c0005t0002 a0036c0092t0001 a0058c0048t0001 a0061c0049t0001	a0004c0005t0001g0220 a0004c0005t0001g0221 a0004c0005t0001g0222 others(8): Show a0004c0005t0001g0220 a0004c0005t0001g0221 a0004c0005t0001g0222 a0004c0005t0001g0223 a0004c0005t0001g0224 a0004c0005t0001g0225 a0004c0005t0001g0227 a0004c0005t0002g0016 a0036c0092t0001g0125 a0058c0048t0001g0226 a0061c0049t0001g0154	11	211	0.0521	663	c.557 others(680): Show c.5575-938_5575-937insCAGGATCTGAGAATTCCTAAGTAAATGG AGGAACATACCACGTCTGTGGATCAGGATCTGAGAATGTCTAAGTAAATG GAGGAACATACCACGTCTGTGGATCAGGATCTGAGAATTCCTACGTAAAT GGAGGAACATACCACGTCTGTGGATCAGGATCTGAGAATGTCTAAGTAAA TGGAGAAACATACCACGTCTGTGGATCAGGATCTGAGAATTCCTAAGTAA CTGGAGGAACATACCACGTCTGTGGATCAGGATCTGAGAATGTCTAAGTA AATGGAGAAACATACCACGTCTGTGGATCAGGATCTGAGAATGTCTAAGT AAATGGAGAAACATACCACGTCTGTGGATCAGGATCTGAGAATGTCTAAG TAAATGGAGGAACATACCACGTCTGTGGATCAGGATCTGAGAATTCCTAC GTAAATGGAGGAACATACCACGTCTGTGGATCAGGATCTGAGAATTCTTA AGTAAATGGAGGAACATACCACGTCTGTGGATCAGGATCTGAGAATTCCT AAGTAACTGGAGGAACATACTACGTCTGTGGATCAGGATCTGAGAATTCT TAAGTAAATGGAGGAACATACCACGTCTGTGGATCAGGATCTGAGAATGT CTAAGTAAATGGAGGAACATACCACGTCTGTGGAT	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	39/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132852263	C C	CCTCCATT others(656): Show CCTCCATTTACTTAGGAATTCTCAGATCCCGATCCACAGACGTGGTATGT TCCTCCATTTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATG TTCCTCCATTTACTTAGGAATTCTCAGATCCCAATCCACAGACGTGGTAT GTTCCTCCATTTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTA TGTTCCTCCATTTACTTAAGAATTCTCAGATCCTGATCCACAGACGTGGT ATGTTCCTCCAGTTACTTAGGAATTCTCAGATCCTGATCCACAGACGTGG TATGTTCCTCCATTTACTTAAGAATTCTCAGATCCTGATCCACAGACGTG GTATGTTCCTCCATTTATGTAGGAATTCTCAGATCCTGATCCACAGACGT GGTATGTTCCTCCATTTATGTAGGAATTCTCAGATCCTGATCCACAGACG TGGTATGTTCCTCCATTTACTTAGACATTCTCAGATCCTGATCCACAGAC GTGGTATGTTTCTCCATTTACTTAGACATTCTCAGATCCTGATCCACAGA CGTGGTATGTTTCTCCATTTACTTAGACATTCTCAGATCCTGATCCACAG ACGTGGTATGTTCCTCCAGTTACTTAGGAATTCTCAGATCCTGATCCACA GACGTGGTATGTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03195.hp1 HG02717.hp1 HG03195.hp1	a0027 a0056 a0027 a0056	a0027c0060 a0056c0059 a0027c0060 a0056c0059	a0027c0060t0001 a0056c0059t0001 a0027c0060t0001 a0056c0059t0001	a0027c0060t0001g0148 a0056c0059t0001g0142 a0027c0060t0001g0148 a0056c0059t0001g0142	2	215	0.0093	663	c.557 others(680): Show c.5575-959_5575-958insAAACATACCACGTCTGTGGATCAGGATC TGAGAATTCCTAAGTAACTGGAGGAACATACCACGTCTGTGGATCAGGAT CTGAGAATGTCTAAGTAAATGGAGAAACATACCACGTCTGTGGATCAGGA TCTGAGAATGTCTAAGTAAATGGAGAAACATACCACGTCTGTGGATCAGG ATCTGAGAATGTCTAAGTAAATGGAGGAACATACCACGTCTGTGGATCAG GATCTGAGAATTCCTACATAAATGGAGGAACATACCACGTCTGTGGATCA GGATCTGAGAATTCCTACATAAATGGAGGAACATACCACGTCTGTGGATC AGGATCTGAGAATTCTTAAGTAAATGGAGGAACATACCACGTCTGTGGAT CAGGATCTGAGAATTCCTAAGTAACTGGAGGAACATACCACGTCTGTGGA TCAGGATCTGAGAATTCTTAAGTAAATGGAGGAACATACCACGTCTGTGG ATCAGGATCTGAGAATGTCTAAGTAAATGGAGGAACATACCACGTCTGTG GATTGGGATCTGAGAATTCCTAAGTAAATGGAGGAACATACCACGTCTGT GGATCAGGATCTGAGAATGTCTAAGTAAATGGAGGAACATACCACGTCTG TGGATCGGGATCTGAGAATTCCTAAGTAAATGGAG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	39/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132852263	C C	CCTCCATT others(656): Show CCTCCATTTACTTAGGAATTCTCAGATCCCGATCCACAGACGTGGTATGT TCCTCCATTTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATG TTCCTCCATTTACTTAGGAATTCTCAGCTCCCAATCCACAGACGTGGTAT GTTCCTCCATTTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTA TGTTCCTCCATTTACTTAAGAATTCTCAGATCCTGATCCACAGACGTGGT ATGTTCCTCCAGTTACTTAGGAATTCTCAGATCCTGATCCACAGACGTGG TATGTTCCTCCATTTACTTAAGAATTCTCAGATCCTGATCCACAGACGTG GTATGTTCCTCCATTTATGTAGGAATTCTCAGATCCTGATCCACAGACGT GGTATGTTCCTCCATTTATGTAGGAATTCTCAGATCCTGATCCACAGACG TGGTATGTTCCTCCATTTACTTAGACATTCTCAGATCCTGATCCACAGAC GTGGTATGTTTCTCCATTTACTTAGACATTCTCAGATCCTGATCCACAGA CGTGGTATGTTTCTCCATTTACTTAGACATTCTCAGATCCTGATCCACAG ACGTGGTATGTTCCTCCAGTTACTTAGGAATTCTCAGATCCTGATCCACA GACGTGGTATGTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0009 a0009	a0009c0043 a0009c0043	a0009c0043t0001 a0009c0043t0001	a0009c0043t0001g0209 a0009c0043t0001g0209	1	214	0.0047	663	c.557 others(680): Show c.5575-959_5575-958insAAACATACCACGTCTGTGGATCAGGATC TGAGAATTCCTAAGTAACTGGAGGAACATACCACGTCTGTGGATCAGGAT CTGAGAATGTCTAAGTAAATGGAGAAACATACCACGTCTGTGGATCAGGA TCTGAGAATGTCTAAGTAAATGGAGAAACATACCACGTCTGTGGATCAGG ATCTGAGAATGTCTAAGTAAATGGAGGAACATACCACGTCTGTGGATCAG GATCTGAGAATTCCTACATAAATGGAGGAACATACCACGTCTGTGGATCA GGATCTGAGAATTCCTACATAAATGGAGGAACATACCACGTCTGTGGATC AGGATCTGAGAATTCTTAAGTAAATGGAGGAACATACCACGTCTGTGGAT CAGGATCTGAGAATTCCTAAGTAACTGGAGGAACATACCACGTCTGTGGA TCAGGATCTGAGAATTCTTAAGTAAATGGAGGAACATACCACGTCTGTGG ATCAGGATCTGAGAATGTCTAAGTAAATGGAGGAACATACCACGTCTGTG GATTGGGAGCTGAGAATTCCTAAGTAAATGGAGGAACATACCACGTCTGT GGATCAGGATCTGAGAATGTCTAAGTAAATGGAGGAACATACCACGTCTG TGGATCGGGATCTGAGAATTCCTAAGTAAATGGAG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	39/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132852325	T T	TTAAGAAT others(656): Show TTAAGAATTCTCAGATCCTGATCCACAGACGTAGTATGTTCCTCCAGTTA CTTAGGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATTT ACTTAAGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATT TACTTAGGAATTCTCAGATCCCAATCCACAGACGTGGTATGTTCCTCCAT TTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCA TTTACTTAAGAATTCTCAGATCCTGATCCACAGACGTAGTATGTTCCTCC AGTTACTTAGGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTC CATTTACTTAAGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCT CCATTTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTTC TCCATTTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTT CTCCATTTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTT CCTCCAGTTACTTAGGAATTCTCAGATCCTGATCCACAGACGTGGTATGT TTCTCCATTTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATG TTCCTCCATTTACG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02523.hp2 HG00423.hp1 HG02523.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0002 a0005c0006t0001 a0001c0001t0002 a0005c0006t0001	a0001c0001t0002g0081 a0005c0006t0001g0192 a0001c0001t0002g0081 a0005c0006t0001g0192	2	32	0.0625	663	c.557 others(682): Show c.5575-1021_5575-1020insCGTAAATGGAGGAACATACCACGTCT GTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGAAACATACCACGTC TGTGGATCAGGATCTGAGAATTCCTAAGTAACTGGAGGAACATACCACGT CTGTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGAAACATACCACG TCTGTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGAAACATACCAC GTCTGTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGGAACATACCA CGTCTGTGGATCAGGATCTGAGAATTCTTAAGTAAATGGAGGAACATACC ACGTCTGTGGATCAGGATCTGAGAATTCCTAAGTAACTGGAGGAACATAC TACGTCTGTGGATCAGGATCTGAGAATTCTTAAGTAAATGGAGGAACATA CCACGTCTGTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGGAACAT ACCACGTCTGTGGATTGGGATCTGAGAATTCCTAAGTAAATGGAGGAACA TACCACGTCTGTGGATCAGGATCTGAGAATTCTTAAGTAAATGGAGGAAC ATACCACGTCTGTGGATCAGGATCTGAGAATTCCTAAGTAACTGGAGGAA CATACTACGTCTGTGGATCAGGATCTGAGAATTCTTA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	39/57			chr10	TogoVar
CFAP61_chr20_20047532_20365698	20320483	A A	ATATTATA others(656): Show ATATTATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATATTATATATATTATATATGCAATATATATTATATA TTACATATGTAATATATATATTATATATTACATATGTAATATATATTACA TATGTAATATATATTATATATGTAATATATATTACATATATTATATATGT AATATATATTATATATGTAATATATAATATATATTATATATGTAATATAT AATATATATTATATATGTAATATATAATATATATTATATATGTAATATAT ATTATATATGTAATATATATTATATATGTAATATATAATATATATTATAT ATGTAATATATATTATATATGTAATATATATTATATATGTAATATATAAT ATATATTATATATGTAATATATATTATATATGTAATATATAATATATATT ATATATGTAATATATATTATATATATAATATATATTATATATGTAATATA TATTATATATATTATATATGTAATATATATTATATATGTAATATATGTAA TATATATTATATATGTAATATATGTAATATATATTATATATGTAATATAT GTAATATATATTATATATGTAATATATGTAATATATATTATATATGTAAT ATATATTATATATG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp1 HG02280.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0093 a0001c0001t0003g0090 a0001c0001t0003g0093	2	175	0.0114	663	c.342 others(684): Show c.3423-21346_3423-21345insTTATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATATTATATATATT ATATATGCAATATATATTATATATTACATATGTAATATATATATTATATA TTACATATGTAATATATATTACATATGTAATATATATTATATATGTAATA TATATTACATATATTATATATGTAATATATATTATATATGTAATATATAA TATATATTATATATGTAATATATAATATATATTATATATGTAATATATAA TATATATTATATATGTAATATATATTATATATGTAATATATATTATATAT GTAATATATAATATATATTATATATGTAATATATATTATATATGTAATAT ATATTATATATGTAATATATAATATATATTATATATGTAATATATATTAT ATATGTAATATATAATATATATTATATATGTAATATATATTATATATATA ATATATATTATATATGTAATATATATTATATATATTATATATGTAATATA TATTATATATGTAATATATGTAATATATATTATATATGTAATATATGTAA TATATATTATATATGTAATATATGTAATATATATTATATATGTAATATAT GTAATATATATTATATATGTAATATATATTATATATGTA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20320485	A A	ATTATATA others(656): Show ATTATATATATTATATATGTAATATATATTATATATATTATATATGTAAT ATATATTATATATATTATATATATTATATATGCAATATATATTATATATT ACATATGTAATATATATATTATATATTACATATGTAATATATATATTATA TATTACATATGTAATATATATTACATATGTAATATATATTATATATGTAA TATATATTACATATATTATATATGTAATATATATTATATATGTAATATAT AATATATATTATATATGTAATATATAATATATATTATATATGTAATATAT AATATATATTATATATGTAATATATATTATATATGTAATATATATTATAT ATGTAATATATAATATATATTATATATGTAATATATATTATATATGTAAT ATATATTATATATGTAATATATAATATATATTATATATGTAATATATATT ATATATGTAATATATAATATATATTATATATGTAATATATATTATATATA TAATATATATTATATATGTAATATATATTATATATATTATATATGTAATA TATATTATATATGTAATATATGTAATATATATTATATATGTAATATATGT AATATATATTATATATGTAATATATGTAATATATATTATATATGTAATAT ATGTAATATATATT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0136 a0002c0002t0001g0136	1	201	0.0050	663	c.342 others(684): Show c.3423-21346_3423-21345insTTATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATATTATATATATT ATATATGCAATATATATTATATATTACATATGTAATATATATATTATATA TTACATATGTAATATATATATTATATATTACATATGTAATATATATTACA TATGTAATATATATTATATATGTAATATATATTACATATATTATATATGT AATATATATTATATATGTAATATATAATATATATTATATATGTAATATAT AATATATATTATATATGTAATATATAATATATATTATATATGTAATATAT ATTATATATGTAATATATATTATATATGTAATATATAATATATATTATAT ATGTAATATATATTATATATGTAATATATATTATATATGTAATATATAAT ATATATTATATATGTAATATATATTATATATGTAATATATAATATATATT ATATATGTAATATATATTATATATATAATATATATTATATATGTAATATA TATTATATATATTATATATGTAATATATATTATATATGTAATATATGTAA TATATATTATATATGTAATATATGTAATATATATTATATATGTAATATAT GTAATATATATTATATATGTAATATATGTAATATATATT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26			chr20	TogoVar
CKAP2_chr13_52450478_52481627	52460703	C C	CGGCCTCC others(656): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT GTTTACACTGTTAAAAATAATTAAAAGTTTTGCTTAGGGCTGGGCGTGAT GGCTCACACTTGTAATCACAGCACTTTGGGAGGCCAGTGTAGGCAGATCA CCTCAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGT CTCTATTAAAAATACAAAAATTAGCTGGGTGAGGTGGCGTGTGCCTGTAA TCCCAGCTACTCAGGAGGCTGAGGCAGGAAACTCGCTTGAAACCCGGGAG GCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTG ACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATTTGCTTAGGACAAAT TTCTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTC TGTCACCCAGGCTAGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTC CACCTCCCAGGTTCAAGGAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGG GACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTATTTTTAGTGGA GACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTTCTGACCTTGT GATCCACCTGCCTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01243.hp2 HG03486.hp1 others(1): Show HG00544.hp1 HG01243.hp2 HG03486.hp1 NA18906.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0005 a0002c0002 a0003c0005	a0002c0002t0001 a0003c0005t0001 a0002c0002t0001 a0003c0005t0001	a0002c0002t0001g0188 a0003c0005t0001g0037 a0003c0005t0001g0126 a0002c0002t0001g0188 a0003c0005t0001g0037 a0003c0005t0001g0126	4	5	0.8000	663	c.156 others(678): Show c.156-168_156-167insGTGAGCCACCGCGCCCGGCCTGTTTACACT GTTAAAAATAATTAAAAGTTTTGCTTAGGGCTGGGCGTGATGGCTCACAC TTGTAATCACAGCACTTTGGGAGGCCAGTGTAGGCAGATCACCTCAGGTC AGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTATTAA AAATACAAAAATTAGCTGGGTGAGGTGGCGTGTGCCTGTAATCCCAGCTA CTCAGGAGGCTGAGGCAGGAAACTCGCTTGAAACCCGGGAGGCAGAGGTT GCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGA GACTCCATCTCAAAAAAAAAAAAAATTTGCTTAGGACAAATTTCTTTTTT TTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCA GGCTAGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCCA GGTTCAAGGAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGG CGCCTGCCACCACGCCCGGCTAATTTTTTATTTTTAGTGGAGACAGGGTT TCACCATCTTGGCCAGGCTGGTCTCGAACTTCTGACCTTGTGATCCACCT GCCTTGGCCTCCCAAAGTGCTGGGATTACAGGC	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(656): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT GTTTACACTGTTAAAAATAATTAAAAGTTTTGCTTAGGGCTGGGCGTGAT GGCTCACACTTGTAATCACAGCACTTTGGGAGGCCAGTGTAGGCAGATCA CCTCAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGT CTCTATTAAAAATACAAAAATTAGCTGGGTGAGGTGGCGTGTGCCTGTAA TCCCAGCTACTCAGGAGGCTGAGGCAGGAAACTCTCTTGAAACCCGGGAG GCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGTG ACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATTTGCTTAGGACAAAT TTCTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTC TGTCACCCAGGCTAGAGTGCAGTGGCACGATCTCGGCTCACTACAACCTC CACCTCCCAGGTTCAAGGAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGG GACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTATTTTTAGTGGA GACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTTCTGACCTTGT GATCCACCTGCCTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG02257.hp2 HG01891.hp1 HG02109.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0145 a0001c0001t0002g0038 a0001c0001t0002g0145	3	4	0.7500	663	c.156 others(678): Show c.156-168_156-167insGTGAGCCACCGCGCCCGGCCTGTTTACACT GTTAAAAATAATTAAAAGTTTTGCTTAGGGCTGGGCGTGATGGCTCACAC TTGTAATCACAGCACTTTGGGAGGCCAGTGTAGGCAGATCACCTCAGGTC AGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTATTAA AAATACAAAAATTAGCTGGGTGAGGTGGCGTGTGCCTGTAATCCCAGCTA CTCAGGAGGCTGAGGCAGGAAACTCTCTTGAAACCCGGGAGGCAGAGGTT GCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGA GACTCCATCTCAAAAAAAAAAAAAATTTGCTTAGGACAAATTTCTTTTTT TTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCA GGCTAGAGTGCAGTGGCACGATCTCGGCTCACTACAACCTCCACCTCCCA GGTTCAAGGAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGG CGCCTGCCACCACGCCTGGCTAATTTTTTATTTTTAGTGGAGACAGGGTT TCACCATCTTGGCCAGGCTGGTCTCGAACTTCTGACCTTGTGATCCACCT GCCTTGGCCTCCCAAAGTGCTGGGATTACAGGC	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(656): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT GTTTACACTGTTAAAAATAATTAAAAGTTTTGCTTAGGGCTGGGCGTGAT GGCTCACACTTGTAATCACAGCACTTTGGGAGGCCAGTGTAGGCAGATCA CCTCAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGT CTCTATTAAAAATACAAAAATTAGCTGGGTGAGGTGGCGTGTGCCTGTAA TCCCAGCTACTCAGGAGGCTGAGGCAGGAAACTCTCTTGAAACCCGGGAG GCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTG ACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAATTTGCTTAGGACAAA TTTCTTTTTTTTTTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTC TGTCACCCAGGCTAGAGTGCAGTGGCACGATCTCGGCTCACTACAACCTC CACCTCCCAGGTTCAAGGAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGG GACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTATTTTTAGTGGA GACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTTCTGACCTTGT GATCCACCTGCCTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01261.hp1 HG02071.hp2 others(7): Show HG00741.hp2 HG01261.hp1 HG02071.hp2 HG02135.hp1 HG02818.hp1 HG03225.hp1 NA18951.hp1 NA18967.hp1 NA18973.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0092 others(5): Show a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0118 a0001c0001t0002g0033 a0001c0001t0002g0045 a0001c0001t0002g0122	10	11	0.9091	663	c.156 others(678): Show c.156-168_156-167insGTGAGCCACCGCGCCCGGCCTGTTTACACT GTTAAAAATAATTAAAAGTTTTGCTTAGGGCTGGGCGTGATGGCTCACAC TTGTAATCACAGCACTTTGGGAGGCCAGTGTAGGCAGATCACCTCAGGTC AGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTATTAA AAATACAAAAATTAGCTGGGTGAGGTGGCGTGTGCCTGTAATCCCAGCTA CTCAGGAGGCTGAGGCAGGAAACTCTCTTGAAACCCGGGAGGCAGAGGTT GCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGA GACTCCATCTCAAAAAAAAAAAAAAATTTGCTTAGGACAAATTTCTTTTT TTTTTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCA GGCTAGAGTGCAGTGGCACGATCTCGGCTCACTACAACCTCCACCTCCCA GGTTCAAGGAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGG CGCCTGCCACCACGCCTGGCTAATTTTTTATTTTTAGTGGAGACAGGGTT TCACCATCTTGGCCAGGCTGGTCTCGAACTTCTGACCTTGTGATCCACCT GCCTTGGCCTCCCAAAGTGCTGGGATTACAGGC	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(656): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT GTTTACACTGTTAAAAATAATTAAAAGTTTTGCTTAGGGCTGGGCGTGAT GGCTCACACTTGTAATCACAGCACTTTGGGAGGCCAGTGTAGGCAGATCA CCTCAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGT CTCTATTAAAAATACAAAAATTAGCTGGGTGAGGTGGCGTGTGCCTGTAA TCCCAGCTACTCAGGAGGCTGAGGCAGGAAACTCTCTTGAAACCCGGGAG GCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTG ACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATTTGCTTAGGACAAAT TTCTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTC TGTCACCCAGGCTAGAGTGCAGTGGCACGATCTCGGCTCACTACAACCTC CACCTCCCAGGTTCAAGGAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGG GACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTATTTTTAGTGGA GACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTTCTGACCTTGT GATCCACCTGCCTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00423.hp1 others(53): Show HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00738.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01361.hp2 HG01433.hp1 HG01516.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02809.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG04199.hp2 HG06807.hp2 NA18940.hp2 NA18956.hp1 NA18962.hp1 NA18968.hp1 NA18978.hp2 NA18980.hp2 NA18989.hp2 NA18995.hp2 NA18999.hp2 NA19001.hp1 NA19007.hp1 NA19043.hp1 NA19060.hp2 NA19077.hp1 NA19082.hp2 NA19085.hp2 NA19087.hp1 NA20300.hp1	a0001 a0006 a0010 a0001 a0006 a0010	a0001c0001 a0001c0004 a0006c0008 others(1): Show a0001c0001 a0001c0004 a0006c0008 a0010c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0004t0001 a0006c0008t0001 a0010c0014t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 others(35): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0002g0013 a0001c0001t0002g0043 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0178 a0001c0001t0003g0011 a0001c0001t0003g0044 a0001c0001t0003g0164 a0001c0001t0003g0169 a0001c0001t0004g0088 a0001c0001t0007g0136 a0001c0001t0009g0165 a0001c0004t0001g0032 a0006c0008t0001g0180 a0010c0014t0001g0018	56	57	0.9825	663	c.156 others(678): Show c.156-168_156-167insGTGAGCCACCGCGCCCGGCCTGTTTACACT GTTAAAAATAATTAAAAGTTTTGCTTAGGGCTGGGCGTGATGGCTCACAC TTGTAATCACAGCACTTTGGGAGGCCAGTGTAGGCAGATCACCTCAGGTC AGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTATTAA AAATACAAAAATTAGCTGGGTGAGGTGGCGTGTGCCTGTAATCCCAGCTA CTCAGGAGGCTGAGGCAGGAAACTCTCTTGAAACCCGGGAGGCAGAGGTT GCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGA GACTCCATCTCAAAAAAAAAAAAAATTTGCTTAGGACAAATTTCTTTTTT TTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCA GGCTAGAGTGCAGTGGCACGATCTCGGCTCACTACAACCTCCACCTCCCA GGTTCAAGGAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGG CGCCTGCCACCACGCCTGGCTAATTTTTTATTTTTAGTGGAGACAGGGTT TCACCATCTTGGCCAGGCTGGTCTCGAACTTCTGACCTTGTGATCCACCT GCCTTGGCCTCCCAAAGTGCTGGGATTACAGGC	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(656): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT GTTTACACTGTTAAAAATAATTAAAAGTTTTGCTTAGGGCTGGGCGTGAT GGCTCACACTTGTAATCACAGCACTTTGGGAGGCCAGTGTAGGCAGATCA CCTCAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGT CTCTATTAAAAATACAAAAATTAGCTGGGTGAGGTGGCGTGTGCCTGTAA TCCCAGCTACTCAGGAGGCTGAGGCAGGAAACTCTCTTGAAACCCGGGAG GCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTG ACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATTTGCTTAGGACAAAT TTCTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTC TGTCACCCAGGCTAGAGTGCAGTGGCACGATCTCGGCTCACTACAACCTC CACCTCCCAGGTTCAAGGAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGG GACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTATTTTTAGTGGA GACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTTCTGACCTTGT GATCCACCTGCCTT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	2	0.5000	663	c.156 others(678): Show c.156-168_156-167insGTGAGCCACCGCGCCCGGCCTGTTTACACT GTTAAAAATAATTAAAAGTTTTGCTTAGGGCTGGGCGTGATGGCTCACAC TTGTAATCACAGCACTTTGGGAGGCCAGTGTAGGCAGATCACCTCAGGTC AGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTATTAA AAATACAAAAATTAGCTGGGTGAGGTGGCGTGTGCCTGTAATCCCAGCTA CTCAGGAGGCTGAGGCAGGAAACTCTCTTGAAACCCGGGAGGCAGAGGTT GCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGA GACTCCATCTCAAAAAAAAAAAAAATTTGCTTAGGACAAATTTCTTTTTT TTTTTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCA GGCTAGAGTGCAGTGGCACGATCTCGGCTCACTACAACCTCCACCTCCCA GGTTCAAGGAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGG CGCCTGCCACCACGCCTGGCTAATTTTTTATTTTTAGTGGAGACAGGGTT TCACCATCTTGGCCAGGCTGGTCTCGAACTTCTGACCTTGTGATCCACCT GCCTTGGCCTCCCAAAGTGCTGGGATTACAGGC	CKAP2	ENSG00000136108.15	transcript	ENST00000258607.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLPTM1L_chr5_1312752_1350099	1333222	C C	CAGATGAA others(656): Show CAGATGAAGATAAGGGGGGACTACTGTAGATACACGGGATGAGGATAAGG GGGGACTACTGTATACACACCGGATGAGGATAAGGGGGACTACTGTAAAC ACACGGGATGAGGATGAGGGACTATTGTATACACACCAGATGAGGATAAG GGGGGACTACTGTAGACACACCGGATGAGGATAAGGGGGGACTACTGTAT ACACACCGGATGAGGATAAGGGGGGACTACTGTATACACACCAGATGAAG ATAAGGGGGGACTACTGTAGATACACGGGATGAGGATAAGGGGGGACTAC TGTATACACACCGGATGAGGATAAGGGGGACTACTGTAAACACACGGGAT GAGGATGAGGGACTATTGTATACACACCAGATGAGGATAAGGGGGGACTA CTGTAGACACACCGGATGAGGATAAGGGGGGACTACTGTATACACACCGG ATGAGGATAAGGGGGGACTACTGTATACACACCAGATGAAGATAAGGGGG GACTACTGTAGATACACGGGATGAGGATAAGGGGGGACTACTGTATACAC ACCAGATGAGGATAAGGGGGGACTACTGTATACACACGGGATGAGGATAA GGGGGGACTACTGTAGACACACCGGATGAGGATAAGGGGGGACTACTGTA TACACACCGGATGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	276	0.0036	663	c.891 others(680): Show c.891+1066_891+1067insTCATCCGGTGTGTATACAGTAGTCCCCC CTTATCCTCATCCGGTGTGTCTACAGTAGTCCCCCCTTATCCTCATCCCG TGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGT CCCCCCTTATCCTCATCCCGTGTATCTACAGTAGTCCCCCCTTATCTTCA TCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACA GTAGTCCCCCCTTATCCTCATCCGGTGTGTCTACAGTAGTCCCCCCTTAT CCTCATCTGGTGTGTATACAATAGTCCCTCATCCTCATCCCGTGTGTTTA CAGTAGTCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTA TCCTCATCCCGTGTATCTACAGTAGTCCCCCCTTATCTTCATCTGGTGTG TATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCC CCTTATCCTCATCCGGTGTGTCTACAGTAGTCCCCCCTTATCCTCATCTG GTGTGTATACAATAGTCCCTCATCCTCATCCCGTGTGTTTACAGTAGTCC CCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCC CGTGTATCTACAGTAGTCCCCCCTTATCTTCATCT	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
COL4A1_chr13_110143963_110312157	110255645	C C	CAGGCAGG others(656): Show CAGGCAGGAAGGGAGGAGGCAGGCAAGAAGGGAGGGGGAAGGCAGGAAGG GAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGA AGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGC AGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAG GGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCA GGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGG GGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGG AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAA GGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAAGGGGGA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0152 a0001c0003t0001g0152	1	311	0.0032	663	c.85- others(680): Show c.85-12912_85-12911insTCCCCCTTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCC CCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCC TTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGC CTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTC CCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTT CCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCC CCCTCCCTTCTTGCCTGCCTCCTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
DECR2_chr16_396885_417482	397709	T T	TGGGGGGG others(656): Show TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGG GTGAGGGAGTCGGGTGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGT CGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGG GGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGG AGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGGGTGAGGGAGTTGGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	307	0.0033	663	c.-42 others(674): Show c.-4255_-4254insGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGG GGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGG TGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGGGTGAGGGAGTTGGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4175		chr16	TogoVar
DNAH17_chr17_78418697_78582396	78438445	G G	GGAGGAGG others(656): Show GGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGA GGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGG AGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGAGGG GGAGGAGGAGGGAGGAGGAGGAGGAGGGGGAGGGGGAGGAGGGGGAGGAG GGAGGAGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGGGGAGGAGGGAGA GGGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAAGAGGGGGGAGG AGGAGGAAGAGGGGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAG GAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGG AGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAAGGAGGAGGGA GAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGG AGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGGA GGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGG GAGGAGGAGGAGGAGGGAGGAGGAGGAGGGTGAGGAGGGAGGAGGAGGAG GAGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0149 a0004c0006t0001g0149	1	241	0.0041	663	c.118 others(682): Show c.11806-578_11806-577insTCCTCCTCCTCCTCCTCCTCCTCCTC CCTCCTCACCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCCTCC TCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTC CTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCC TCCTCCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCTCCCTCCTCCTT CCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCC TCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCT CCTCCTCCTCCCTCCTCCTCCTCCCCCCTCTTCCTCCTCCTCCCCCCTCT TCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCCCTCTCCCTCCTCC CCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCTCCTCCCTCCTCCCCCTC CTCCCCCTCCCCCTCCTCCTCCTCCTCCCTCCTCCTCCCCCTCCTCCTCC CTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCC TCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCTCC TCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DPP6_chr7_154047398_154899285	154063328	C C	CCCCCCCG others(656): Show CCCCCCCGGCTTAGGGCCCCCATCGTTGATCCTAAGATCCTTAGGACCCA CCTGGAGGACTGTGGGTATTAGGTGTCCAAGTAGAGAGTTCACATCTTCT GACGGCAGGTACCTTACGTGGGGTTTACGATCCGACGGTCCGAACGCAGC TCGGGAACAGAAAGAAAGCAGGTTATTTGCAATCTACCGGAGCTTAAGGG CAGAAGGCAGGTGAGAGAATTCTTAGGAGCTGTGGGGTTTTGTAGACTGT GGATCCCAAACTTTGCAGTATTAGCCAAGCCTTTGTATGAGGTCACAAAG GGGGCGGGGATCCGGAACTTTTGAAATGGGGAACCCAACAACAGCAAGTT TTTCATGAGTTACAAGAAAATCTTCTGGCAGCCCCAGCCCTGGGGCTACC CGATCTGACAAAGCCTTTTCCATTGTATGCATCAGAGAGAGAAAAGATGG CAGCTGGACTTTTAACCCAAACTGTGGGGCCCTGGCTGAGGCCGGTAGCC TACGTCTCTAAACAACTAGACAGGGTTGCTAAAGGATGGCCCCCCTATTT GAGGGCCTTGGCAGCAACTGCCCTGCTAGTACAAGAAGCAAATAAGCTCA TTCTTGGGCAAAACCTGAACATAAAGGCCCCCCATTTTGTGATGGCTGAG ATCCATCCCCTCTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0004 a0002c0009t0004	a0002c0009t0004g0004 a0002c0009t0004g0004	1	28	0.0357	663	c.243 others(682): Show c.243+10265_243+10266insCCCCCCGGCTTAGGGCCCCCATCGTT GATCCTAAGATCCTTAGGACCCACCTGGAGGACTGTGGGTATTAGGTGTC CAAGTAGAGAGTTCACATCTTCTGACGGCAGGTACCTTACGTGGGGTTTA CGATCCGACGGTCCGAACGCAGCTCGGGAACAGAAAGAAAGCAGGTTATT TGCAATCTACCGGAGCTTAAGGGCAGAAGGCAGGTGAGAGAATTCTTAGG AGCTGTGGGGTTTTGTAGACTGTGGATCCCAAACTTTGCAGTATTAGCCA AGCCTTTGTATGAGGTCACAAAGGGGGCGGGGATCCGGAACTTTTGAAAT GGGGAACCCAACAACAGCAAGTTTTTCATGAGTTACAAGAAAATCTTCTG GCAGCCCCAGCCCTGGGGCTACCCGATCTGACAAAGCCTTTTCCATTGTA TGCATCAGAGAGAGAAAAGATGGCAGCTGGACTTTTAACCCAAACTGTGG GGCCCTGGCTGAGGCCGGTAGCCTACGTCTCTAAACAACTAGACAGGGTT GCTAAAGGATGGCCCCCCTATTTGAGGGCCTTGGCAGCAACTGCCCTGCT AGTACAAGAAGCAAATAAGCTCATTCTTGGGCAAAACCTGAACATAAAGG CCCCCCATTTTGTGATGGCTGAGATCCATCCCCTCTT	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25			chr7	TogoVar
EBF2_chr8_25836725_26050413	26005387	A A	ATATAATA others(656): Show ATATAATATAATTATATATAATATATAATATATAATTATATATAATATAT AATATATATTATATATAATTATATATTATATATAATTATATATTATATAT AATATATAATATATAATTATATATTATATATAATATATAATTATATATAA TATATAATATATTATATATTATATATATTATATAAATATATAATATATTA TATATAATTATATAATATATTATATATAATATATAATTATATGTTATATA TTATATATATTATATATTATATATATATTATATATATAATATATATTATA TATTAAATTATATATAATATATATTATATATATAATTTATATATATAAAA TATATTATATATTATATAAATATATATATTTTATATATATAAAATATATA TTTTATAATATATAATATAGAAATATATATTATATAATATATAATTATAT ATAATTATATATTATATAATATATATTTCTATATTATATATTTATAATGT ATAATATATAAATATATTATAAATATATATTATATACTATATAATGCATT ATAAATATATTATATTTATATATTATAAATATATTACATATTTATATATT ATATATATAATATATATATTATATATTATAAATATATTTTATAAAATATA ATAATAATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01175.hp2 HG00735.hp1 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0003 a0001c0001t0006 a0001c0002t0003	a0001c0001t0006g0203 a0001c0002t0003g0169 a0001c0001t0006g0203 a0001c0002t0003g0169	2	93	0.0215	663	c.551 others(682): Show c.551+27697_551+27698insATATATATTATTATTATATTTTATAA AATATATTTATAATATATAATATATATATTATATATATAATATATAAATA TGTAATATATTTATAATATATAAATATAATATATTTATAATGCATTATAT AGTATATAATATATATTTATAATATATTTATATATTATACATTATAAATA TATAATATAGAAATATATATTATATAATATATAATTATATATAATTATAT ATTATATAATATATATTTCTATATTATATATTATAAAATATATATTTTAT ATATATAAAATATATATATTTATATAATATATAATATATTTTATATATAT AAATTATATATATAATATATATTATATATAATTTAATATATAATATATAT TATATATATAATATATATATAATATATAATATATATAATATATAACATAT AATTATATATTATATATAATATATTATATAATTATATATAATATATTATA TATTTATATAATATATATAATATATAATATATTATATATTATATATAATT ATATATTATATATAATATATAATTATATATTATATATTATATATAATATA TAATTATATATAATATATAATTATATATAATATATATTATATATTATATA TAATTATATATTATATATTATATATAATTATATTATA	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EIPR1_chr2_3183970_3382818	3315642	C C	CCCCATCC others(656): Show CCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATACACACC CCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACC ATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCC CCATCCACAGCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCC CTACCACCACCATCACCACCATCCCCATACACACCCCCTACCACCACCAT CACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCCC ATCCACAGCCCCACCACCATCCTCACCACCATCCCCATCCACACCCCCTA CCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACCACCATCAC CACCATCCCCATACACACCCCCTACCACCACCATCACCACCATCCCCATC CACAGCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCACCA CCATCCTCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCAC CATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCAC ACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACC ACCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00639.hp2 others(13): Show HG00280.hp2 HG00323.hp2 HG00639.hp2 HG00735.hp1 HG00738.hp1 HG01071.hp1 HG01515.hp2 HG01993.hp2 HG02735.hp1 HG03492.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp2 NA19079.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0060 others(13): Show a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0002g0054 a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0106 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0038 a0001c0001t0003g0046 a0001c0001t0003g0067 a0001c0001t0003g0117 a0001c0001t0007g0250	16	215	0.0744	663	c.259 others(682): Show c.259+22374_259+22375insATGGTGGTGATGGTGGTGGTAGGGGG TGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGAT GGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTG GTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTGGGGCTGT GGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGT GGTGATGGTGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGATGGTGGTG GTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGG ATGGGGATGGTGGTGAGGATGGTGGTGGGGCTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTA GGGGGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATG GGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGTATGGG GATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315642	C C	CCCCATCC others(656): Show CCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACC CCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACC ATCACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCC CCATCCACAGCCCCTACCACCACCATCACCACCATCCCCATACACACCCC CTACCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACCACCAT CACCACCATCCCCATCCACAGCCCCACCACCATCCTCACCACCATCCCCA TCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCTA CCACCACCATCACCACCATCCCCATACACACCCCCTACCACCACCATCAC CACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCCCATC CACAGCCCCACCACCATCCTCACCACCATCCCCATCCACACCCCCTACCA CCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCAC CATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCAC ACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACC ACCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	200	0.0050	663	c.259 others(682): Show c.259+22374_259+22375insATGGTGGTGATGGTGGTGGTAGGGGG TGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGAT GGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTG GTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTG TGGATGGGGATGGTGGTGAGGATGGTGGTGGGGCTGTGGATGGGGATGGT GGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTG GTAGGGGGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGG ATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGG TGAGGATGGTGGTGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTA GGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGTATG GGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGG GATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EXD3_chr9_137301896_137428162	137328271	A A	ACCTACAT others(656): Show ACCTACATGATGCGTAAAAACAACGAACAAACACCCACGTGATGAGTAAA AACAACTAATATACACCCATATCATGAGTAAAAACAACTAATATACTCCC ATATGATGAGTAAAAACAACTAATATACACCCACATGATGAGTAAAAACA ACGAATAAACACCCACATGATGAGTAAAAACAATGAATATACACCCACAT GAGTAAAAACAACTAATATACTCCCATATGACGAGTAAAAACAACGAATA TACACCCACATGATGAGTAAAAACAACAAACACCCACATGATGAGTAAAA ACAACTAATATACTCCCACATGATGAGTAAAAACAACTAATATACTCCCA TATGATGAGTAAAAACAACTAATATACACCCACATGATGAGTAAAACAAC TAATATACTCCCATATAATGAGTAAAACAACTAATATACTCCCATATGAT GAGTAAAAACAATGAATATACACCCACATGATGAGTAAAAACAACTAATA TACTCCCATATGATGAGTAAAAACAACAAGTACACACCCACATGATGAGT AAAAACAACTAATATACTCCCATATGATGAGTAAAAACAACAAGTACACA CCCACATGATGAGTAAAAACAACTAATATACACCAATATGATGAGTAAAA ACAACTAATATACT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0001 a0012c0011t0001	a0012c0011t0001g0055 a0012c0011t0001g0055	1	66	0.0152	663	c.199 others(682): Show c.1999-4129_1999-4128insAGTATATTAGTTGTTTTTACTCATCA TATTGGTGTATATTAGTTGTTTTTACTCATCATGTGGGTGTGTACTTGTT GTTTTTACTCATCATATGGGAGTATATTAGTTGTTTTTACTCATCATGTG GGTGTGTACTTGTTGTTTTTACTCATCATATGGGAGTATATTAGTTGTTT TTACTCATCATGTGGGTGTATATTCATTGTTTTTACTCATCATATGGGAG TATATTAGTTGTTTTACTCATTATATGGGAGTATATTAGTTGTTTTACTC ATCATGTGGGTGTATATTAGTTGTTTTTACTCATCATATGGGAGTATATT AGTTGTTTTTACTCATCATGTGGGAGTATATTAGTTGTTTTTACTCATCA TGTGGGTGTTTGTTGTTTTTACTCATCATGTGGGTGTATATTCGTTGTTT TTACTCGTCATATGGGAGTATATTAGTTGTTTTTACTCATGTGGGTGTAT ATTCATTGTTTTTACTCATCATGTGGGTGTTTATTCGTTGTTTTTACTCA TCATGTGGGTGTATATTAGTTGTTTTTACTCATCATATGGGAGTATATTA GTTGTTTTTACTCATGATATGGGTGTATATTAGTTGTTTTTACTCATCAC GTGGGTGTTTGTTCGTTGTTTTTACGCATCATGTAGG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
FAM120B_chr6_170301758_170412067	170399019	A A	AAAGGTAG others(656): Show AAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAAC TATGTCATAACTCTTAGGAGTGAGTGAGGAAGGTAGAACTATGTCATAAC CCTTAGGAGTGAGTGAGGAAGGTAGAACTATGTCATAACCCTTAGGAGTG AGTGAGGAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGGGGAAGG TAGAACTATGTCATAACTCTTAGGAGTGAGTGGGAAAGGTAGAACTATGT CATAACTCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTA GAAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGA GGAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGGAAGGTAGAA CTATGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAA CTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGT GAGTGGGGAAGGTAGAACTATGTCATAAGCCTTAGGAGTGAGTGAGAAAG GTAGAACTATGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGAACTATG TCATAACCCTTAGGAGTGAGTGAGGAAGGTAGAACTATGTCATAACCCTT AGGAGTGAGTGGGG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	265	0.0038	663	c.269 others(682): Show c.2692+3515_2692+3516insAGGAAGGTAGAACTATGTCATAACCC TTAGGAGTGAGTGAGGAAGGTAGAACTATGTCATAACCCTTAGGAGTGAG TGAGGAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGGGGAAGGTA GAACTATGTCATAACTCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCA TAACTCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGA AGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGAGG AAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGGAAGGTAGAACT ATGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACT CTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGA GTGGGGAAGGTAGAACTATGTCATAAGCCTTAGGAGTGAGTGAGAAAGGT AGAACTATGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTC ATAACCCTTAGGAGTGAGTGAGGAAGGTAGAACTATGTCATAACCCTTAG GAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGG GAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTG	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170399854	A A	ACTCTTAG others(656): Show ACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAG TGAGTGGGGAAGGTAGAACTATGTCATAAGCCTTAGGAGTGAGTGAGAAA GGTAGAACTATGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGAACTAT GTCATAACCCTTAGGAGTGAGTGAGGAAGGTAGAACTATGTCATAACCCT TAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGT GGGGAAGGTAGAACTATGTCATAAGCCTTAGGAGTGAGTGGGGAAGGTAG AACTATGTCTTAACTCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCAT AACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGA GTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAA AGGTAGAACTACGTCATAAGCCTTAGGAGTGAGTTGGGAAGGTAGAACTA TGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTC TTAGAAGTGAGTGGGAAAGGTAGAACTATGTCATAACTTAGGAGTGAGTG GGAAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGAAAGGTAGA ACTATGTCATAACT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0185 a0001c0001t0025g0185	1	253	0.0040	663	c.269 others(682): Show c.2692+4277_2692+4278insCTTAGGAGTGAGTGGGGAAGGTAGAA CTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAA GCCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACCCTTAGGAGT GAGTGGGGAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGGAAG GTAGAACTATGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGAACTATG TCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAAGCCTT AGGAGTGAGTGGGGAAGGTAGAACTATGTCTTAACTCTTAGGAGTGAGTG GGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGA ACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATA ACTCTTAGGAGTGAGTGAGAAAGGTAGAACTACGTCATAAGCCTTAGGAG TGAGTTGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAA GGTAGAACTATGTCATAACTCTTAGAAGTGAGTGGGAAAGGTAGAACTAT GTCATAACTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACCCTTA GGAGTGAGTGAGAAAGGTAGAACTATGTCATAACTCT	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM174C_chr19_1270530_1284228	1282324	G G	GGGGGAAG others(656): Show GGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGGAGGGTAGTATGAAG GGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAG GAAGGGAGGAGGGAGGGGAAGGTGTGAAGGAAGGAGGGAGGGGAGATGGG AGGGAAGTAGGGAGGGGAGGGAGGGAAAGGTGTGAAGGGAAGAGGAGGGG AGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGAGGGAGGAGGGG GGAGGGTGGAAGGAGAGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGG GAGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGG AGGAGGGTGTGAAGGGAGGAGGGAGGGAGGAGGGAGGGAGGAGGGTGTGA AGGGAGGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGAGGGTGTGAAGG GAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGAGGAGA GGAGGGAGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAA GGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGGAAGGAGGGAGG GGAGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAGAGAGAAGGAAGG GAGGGGGTATTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	11	0.0909	663	c.35 others(674): Show c.3547_*3548insGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGG GAGGGTAGTATGAAGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAG GGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGAAGGA GGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGAAAGGTGTGA AGGGAAGAGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGT GTGAGGGAGGAGGGGGGAGGGTGGAAGGAGAGGGAGGGGAGGAGGGAGGG AGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAAG GAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGAGGAGGGA GGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAGGGAGGAG AGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAA GGGAGGAGGAGGAGAGGAGGGAGGAGGAGGGTGTGAAGGGAGGAGGGAGG GGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAA GGGGAAGGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGG GAGAGAGAAGGAAGGGAGGGGGTATTAAT	FAM174C	ENSG00000228300.14	transcript	ENST00000409293.6	protein_coding		3097		chr19	TogoVar
HELZ2_chr20_63553086_63579239	63571551	C C	CAGTGGGC others(656): Show CAGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCT ACAGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCC TACGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGC CTGTGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAACCTCTGGCTCTG CCTGTGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAACCTCTGGCTCT GCCTGTGGTGGGCTCCTGCCCCACTCCAAGCTCCTGGGAACCTCTGGCTC TGCCTACGGTGGGCTCCTGCCCTACTCCAAGCTCCTGGGAACCTCTGGCT CTGCCTGTGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGC TCTGCCTACGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAGCCTCTGG CTCTGCCTGTGGTGGGCTCCTGCCCCACTCCAAGCTCCTGGGAACCTCTG GCTCTGCCTACGGTGGGCTCCTGCCCTACTCCAAGCTCCTGGGAACCTCT GGCTCTGCCTGTGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTC TGGCTCTGCCTACGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAGCCT CTGGCTCTGCCTGT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0085 a0001c0001t0054g0085	1	383	0.0026	663	c.278 others(678): Show c.278+556_278+557insACAGGCAGAGCCAGAGGCTCCCAGGAGCTT GGAGCAGGGCAGGAGCCCACCGTAGGCAGAGCCAGAGGTTCCCAGGAGCT TGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGTTCCCAGGAGC TTGGAGTAGGGCAGGAGCCCACCGTAGGCAGAGCCAGAGGTTCCCAGGAG CTTGGAGTGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGCTCCCAGGA GCTTGGAGCAGGGCAGGAGCCCACCGTAGGCAGAGCCAGAGGTTCCCAGG AGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGTTCCCAG GAGCTTGGAGTAGGGCAGGAGCCCACCGTAGGCAGAGCCAGAGGTTCCCA GGAGCTTGGAGTGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGTTCCC AGGAGCTTGGAGCAGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGTTCC CAGGAGCTTGGAGCAGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGCTC CCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGCAGAGCCAGAGGTT CCCAGGAGCTTGGAGCGGGGCAGGAGCCCACTGTAGGCAGAGCCAGAGGT TCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACT	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63571726	A A	AAGCTCCT others(656): Show AAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCTGCTC CAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCCACT CCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCCTAC TCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCCG CTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCCT GCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCC CACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCC CTACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGC CCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTG CCCTGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCT GCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCC TGCCCCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTC CTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCT CCTGCCCCGCTCCC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG03491.hp1 others(1): Show HG01168.hp2 HG01169.hp2 HG03491.hp1 HG03492.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0166 a0003c0003t0001g0001 a0003c0003t0001g0166	4	257	0.0156	663	c.278 others(678): Show c.278+381_278+382insGGGAGCGGGGCAGGAGCCCACCACAGGCAG AGCCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGCA GAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCACAGGC AGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGG CAGAGCCAGAGGCTCCCAGGAGCTTGGAGCAGGGCAGGAGCCCACCGTAG GCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACA GGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCACCGT AGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCA CAGGCAGAGCCAGAGGCTCCCAGGAGCTTGGAGCAGGGCAGGAGCCCACC GTAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCAC CACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCA CCGTAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCC ACCACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCAGGGCAGGAGCC CACCACAGGCAGAGCCAGAGGCTCCCAGGAGCT	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63571874	G G	GCTCCAAG others(656): Show GCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCC CGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCC CCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGC CCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTG CCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCT GCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCC TGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTC CTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCT CCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGC TCCTGCCCCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGG CTCCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGG GCTCCTGCCCCGCTCCCAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTG GGCTCCTGCCCCGCTCCCAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGT GGGCTCCTGCCCCA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0031 a0031	a0031c0039 a0031c0039	a0031c0039t0090 a0031c0039t0090	a0031c0039t0090g0079 a0031c0039t0090g0079	1	177	0.0056	663	c.278 others(678): Show c.278+233_278+234insTGGGGCAGGAGCCCACCACAGGCAGAGCCA GAGGTTCCCAGGAGCTGGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCC AGAGGCTCCCAGGAGCTGGGAGCGGGGCAGGAGCCCACCACAGGCAGAGC CAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGCAGAG CCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCACAGGCAGA GCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAG AGCCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGCA GAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGC AGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGG CAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAG GCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACA GGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCAC AGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCG TAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAG	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HPCAL1_chr2_10297904_10432604	10399226	C C	CCACCGCC others(656): Show CCACCGCCGCTGCCGCTACCACCATCACCACCACCACCACCACCACCACC ACCACCACCACCACCACCATCACCACCATCACCACCACCACCATCACCAT CATCACCACCACCACCACCACCACCATCACCACCACCACCATCACCGCCA CCACCATCACCATCACCACCACCACCACCACCACCATCACCACCACCACC ATCACCATCACCATCACCGCCACCACCATCACCACCACCACCACCACCAC CACCACCACCATCACCATCATCACCACCACCACCACCACCACCACCACCA CCACCACCATCACCATCATCACCATCATCACCACCACCACCACCACCATC ACCATCATCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCA CCACCATCACCATCACCACCATCACCGCCACCACCACCATCACCACCACC ACCATCACCATCATCACCATCATCACCACCACCACCACCACCATCACCAT CATCACCACCACCACCACCACCACCATCACCACCACCACCATCACCGCCA CCACCATCACCATCACCACCACCACCACCACCACCATCACCACCACCACC ATCACCATCACCAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	307	0.0033	663	c.-25 others(680): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CCACCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACC ACCACCACCATCACCATCATCACCACCACCACCACCACCACCATCACCAC CACCACCATCACCGCCACCACCATCACCATCACCACCACCACCACCACCA CCATCACCACCACCACCATCACCATCACCATCACCGCCACCACCATCACC ACCACCACCACCACCACCACCACCACCATCACCATCATCACCACCACCAC CACCACCACCACCACCACCACCACCATCACCATCATCACCATCATCACCA CCACCACCACCACCATCACCATCATCACCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCAC CACCACCATCACCACCACCACCATCACCATCACCACCATCACCGCCACCA CCACCATCACCACCACCACCATCACCATCATCACCATCATCACCACCACC ACCACCACCATCACCATCATCACCACCACCACCACCACCACCATCACCAC CACCACCATCACCGCCACCACCATCACCATCACCACCACCACCACCACCA CCATCACCACCACCACCATCACCATCACCATCACC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
ICA1_chr7_8108184_8267167	8152669	C C	CATTATCT others(656): Show CATTATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCT CCACCATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACC CCCACCACTACCACCATCACCTCCTCCACCATCACCACCACCACCACAAC CACCATCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCATCA CCTCCACCACCACCACCATCTCCTTCAACACCACTACCCCCACCACTATC ACCATCACCATCACCTCCACCACCACCACCATCTCCTTCATCACCACTAC CCCCACCACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCT TCAACACCACTACCCCCAGCACTACCACCATCACCTCTTCCACCACTACC ACCATCTCCTCCACCACCACTACCACCACCACCACCATTATCTCCTTCAT CACCACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACCA CCACCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTATCACC ATCACCATCACCTCCACCACCACCACCACCACCATCTCCTTCAACACCAC TACCCCCACCACTACCACCATCACCTCCTCCGCCACCATCACCATCACCT CCACCACCACCACA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0110 a0001c0001t0003g0110	1	198	0.0051	663	c.804 others(680): Show c.804+4446_804+4447insTGTGGTGGTGGTGGAGGTGATGGTGATG GTGGCGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTTGAAGGA GATGGTGGTGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGG GGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTG GAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAAT GGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAG AGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTG GTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAA GGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGG TAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTG ATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGT GGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGA AGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTG GTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAAT	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TGGAATAC others(656): Show TGGAATACATATATATGGAATACATATATATGGAATACACATATGGAATA CATATATATGGAATACACATATGGAATACATATATATGGAATACATATAT GGAATACATATATATGGAATACATATATGGAATACATATATATGGAATAC ATATATGGAATACATATATATGGAATACATATATGGAATATATATATGTG GAATACATATATGGAATATATATATATGTGGAATATATATATATGGAATA TATATATGGAATATATATATATGGAATATATATATGGAATATATATACAT GGAATATATATATGGAATATATATACATGGAATATATATATGGAATATAT ATACATGGAATATATATATGGAATATATATACATGGAATATATATATGGA ATATATATACATGGAATATATATATGGAATATATATACATGGAATATATA TATATGGAATATATACATGGAATATATATATGGAATATATACATATGGAA TATATATATGGAATATATACATATGGAATATATATATGGAATATATACGT ATGGAATATATATGGAATATATACGTATGGAATATATATATGGAATATAT ACGTATGGAATATATATATGGAATATATACGTATGGAATATATATATGGA ATATATACGTATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0237 a0002c0002t0006g0237	1	62	0.0161	663	c.-21 others(674): Show c.-2147_-2146insGGAATACATATATATGGAATACATATATATGGAA TACACATATGGAATACATATATATGGAATACACATATGGAATACATATAT ATGGAATACATATATGGAATACATATATATGGAATACATATATGGAATAC ATATATATGGAATACATATATGGAATACATATATATGGAATACATATATG GAATATATATATGTGGAATACATATATGGAATATATATATATGTGGAATA TATATATATGGAATATATATATGGAATATATATATATGGAATATATATAT GGAATATATATACATGGAATATATATATGGAATATATATACATGGAATAT ATATATGGAATATATATACATGGAATATATATATGGAATATATATACATG GAATATATATATGGAATATATATACATGGAATATATATATGGAATATATA TACATGGAATATATATATATGGAATATATACATGGAATATATATATGGAA TATATACATATGGAATATATATATGGAATATATACATATGGAATATATAT ATGGAATATATACGTATGGAATATATATGGAATATATACGTATGGAATAT ATATATGGAATATATACGTATGGAATATATATATGGAATATATACGTATG GAATATATATATGGAATATATACGTATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323156	A A	ACGTATGG others(656): Show ACGTATGGAATATATATATGGAATATATACGTATGGAATATATATATGGA ATATATACGTATGGAATATATATATGGAATATATACGTATGGAATATATA TATATGGAATATACGTATGGAATATATATATATGGAATATACGTATGGAA TATATATATATGGAATATACGTATGGAATATATATATATGGAATATACGT ATGGAATATATATATATGGAATATATATGTATGGAATATATATATGGAAT ATATATGTATGGAATATATATATGGAATATATATGTATGGAATATATATG TATGGAATATATATGTATGGAATATATATGTATGGAATATATATGTATGG AATATATATATGGAATATATATGTATGGAATATATATATGGAATATATAT GTATGGAATATATATGTATGGAATATATATATGGAATATATATGTATGGA ATATACATATGGAATATATATGTTTGGAATATATATATATGGAATATATA TGTATGGAATATATATATATGGAATATATGTATGGAATATATATATGGAA TATATGTATGGAATATATATATATGGAATATATGTATGGAATATATATAT ATGGAATATATGTATGGAATATATATATGGAATATATGTATGGAATATAT ATATGGAATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0229 a0002c0002t0002g0229	1	312	0.0032	663	c.-19 others(674): Show c.-1900_-1899insCGTATGGAATATATATATGGAATATATACGTATG GAATATATATATGGAATATATACGTATGGAATATATATATGGAATATATA CGTATGGAATATATATATATGGAATATACGTATGGAATATATATATATGG AATATACGTATGGAATATATATATATGGAATATACGTATGGAATATATAT ATATGGAATATACGTATGGAATATATATATATGGAATATATATGTATGGA ATATATATATGGAATATATATGTATGGAATATATATATGGAATATATATG TATGGAATATATATGTATGGAATATATATGTATGGAATATATATGTATGG AATATATATGTATGGAATATATATATGGAATATATATGTATGGAATATAT ATATGGAATATATATGTATGGAATATATATGTATGGAATATATATATGGA ATATATATGTATGGAATATACATATGGAATATATATGTTTGGAATATATA TATATGGAATATATATGTATGGAATATATATATATGGAATATATGTATGG AATATATATATGGAATATATGTATGGAATATATATATATGGAATATATGT ATGGAATATATATATATGGAATATATGTATGGAATATATATATGGAATAT ATGTATGGAATATATATATGGAATATATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1813		chr21	TogoVar
IQSEC3_chr12_61767_183455	163376	C C	CCACAGAA others(656): Show CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTC CTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGG AGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCC CTCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTC CCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACA GAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCT CTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGG ACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCC CTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACTGGACCC CTCCCCTGTCCCCT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG04115.hp1 NA18942.hp1 others(3): Show HG03831.hp1 HG04115.hp1 NA18942.hp1 NA18947.hp1 NA18959.hp2 NA20905.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0004 a0001c0007 a0001c0059 others(2): Show a0001c0004 a0001c0007 a0001c0059 a0002c0001 a0007c0050	a0001c0004t0001 a0001c0007t0001 a0001c0059t0001 others(2): Show a0001c0004t0001 a0001c0007t0001 a0001c0059t0001 a0002c0001t0011 a0007c0050t0010	a0001c0004t0001g0237 a0001c0007t0001g0109 a0001c0007t0001g0124 others(3): Show a0001c0004t0001g0237 a0001c0007t0001g0109 a0001c0007t0001g0124 a0001c0059t0001g0235 a0002c0001t0011g0126 a0007c0050t0010g0222	6	124	0.0484	663	c.258 others(680): Show c.2584-107_2584-106insAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCC CTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCC CTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCC ACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCC CCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAAC CGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCC TCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGA GCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCCTCC TCAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCC CCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAG AACTGGACCCCTCCCCTGTCCCCTCACAGAACCGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(656): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGA GAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAG AGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGA GGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGA GTCCGGGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGAGAGGAAAGAGTCC GGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0162 a0001c0001t0010g0162	1	5	0.2000	663	c.-46 others(674): Show c.-4676_-4675insTCCCTCCTCCTCCCGGACTCTTTCCTCTCCTCCT CCCGGACTCTTTCCTCTCCTCCTCCCGGACTCTTTCCTCTCCTCCTCCCC CTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTCTCCTCCTC CTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCC TTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCCTCCTCT CTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCC CTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTTTCTC CCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTTTCTC TTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTCCCCT TTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTCCCTT TCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCCCTCA TCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTCCCTC CTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCCTCCT CCTCCTCTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KLHL15_chrX_23978720_24032186	23982660	C C	CAAAAAAA others(656): Show CAAAAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAG CTCCAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGA TGGAAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACT AAAATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAAC AATTGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATG TTTTGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAA TTCCAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTT GAGAAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGC AGTGGCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGAT CATCTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCC GTCTCTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTG TAATCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGA AGGTGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAG CAAGGCTCTGTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 NA18522.hp1 HG03130.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0161 a0001c0001t0003g0165 a0001c0001t0003g0161 a0001c0001t0003g0165	2	12	0.1667	663	c.52 others(674): Show c.5260_*5261insAAGACAGAGCCTTGCTCTGGCTGGAATGCAGTGG TGTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGTTCAAGTGATTCTC CTGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGCATGTGCCACCATG CCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGAC AGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGTTCGGCCTCCC AACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCAGCCTACAACTTTT ATTCTGATACCCATCATATCTGTATTTCTCAACGCAGAGTTCCAACCATC TCCTGAACATCTCTCACTGTTGTATTGGAATTTCAAACTGAACAAGTGCA AATCTGAATACATTGTCTACTCCCCCAAAACATGCCACTTATCTTCTCTG TATTATCTGGCTTTACCATTGCCTACAATTGTTCATGTATAACCTCGGCA TGTCTCTCTCCCACTTAACCCCAACATTTTAGTTCATCCAGTTCTAGCAC TTTAAACTCTCAACTGCCCTCTCCTTTCCATCCATACTGTCCTAGTTCAG ACCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTGATCATCTACCTCC ATCATCCACTTTTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1059		chrX	TogoVar
KLHL15_chrX_23978720_24032186	23982660	C C	CAAAAAAA others(656): Show CAAAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAGC TCCAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGAT GGAAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACTA AAATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAACA ATTGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATGT TTTGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAAT TCCAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCCGCGTTG AGAAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGCA GTGGCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGATC ATCTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCCG TCTCTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTGT AATCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGAA GGTGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAGC AAGGCTCTGTCTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0142 a0001c0001t0004g0142	1	11	0.0909	663	c.52 others(674): Show c.5260_*5261insTTAGACAGAGCCTTGCTCTGGCTGGAATGCAGTG GTGTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGTTCAAGTGATTCT CCTGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGCATGTGCCACCAT GCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGA CAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGTTCGGCCTCC CAACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCAGCCTACAACTTT TATTCTGATACCCATCATATCTGTATTTCTCAACGCGGAGTTCCAACCAT CTCCTGAACATCTCTCACTGTTGTATTGGAATTTCAAACTGAACAAGTGC AAATCTGAATACATTGTCTACTCCCCCAAAACATGCCACTTATCTTCTCT GTATTATCTGGCTTTACCATTGCCTACAATTGTTCATGTATAACCTCGGC ATGTCTCTCTCCCACTTAACCCCAACATTTTAGTTCATCCAGTTCTAGCA CTTTAAACTCTCAACTGCCCTCTCCTTTCCATCCATACTGTCCTAGTTCA GACCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTGATCATCTACCTC CATCATCCACTTTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1059		chrX	TogoVar
KLHL15_chrX_23978720_24032186	23982660	C C	CAAAAAAA others(656): Show CAAAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAGC TCCAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGAT GGAAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACTA AAATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAACA ATTGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATGT TTTGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAAT TCCAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTTG AGAAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGCA GTGGCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGATC ATCTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCCG TCTCTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTGT AATCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGAA GGTGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAGC AAGGCTCTGTCTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG02572.hp1 others(3): Show HG01884.hp1 HG02258.hp1 HG02572.hp1 HG03209.hp1 HG03471.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0053 a0001c0001t0004g0059 a0001c0001t0004g0061 others(3): Show a0001c0001t0004g0053 a0001c0001t0004g0059 a0001c0001t0004g0061 a0001c0001t0004g0063 a0001c0001t0004g0067 a0001c0001t0004g0078	6	16	0.3750	663	c.52 others(674): Show c.5260_*5261insTTAGACAGAGCCTTGCTCTGGCTGGAATGCAGTG GTGTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGTTCAAGTGATTCT CCTGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGCATGTGCCACCAT GCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGA CAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGTTCGGCCTCC CAACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCAGCCTACAACTTT TATTCTGATACCCATCATATCTGTATTTCTCAACGCAGAGTTCCAACCAT CTCCTGAACATCTCTCACTGTTGTATTGGAATTTCAAACTGAACAAGTGC AAATCTGAATACATTGTCTACTCCCCCAAAACATGCCACTTATCTTCTCT GTATTATCTGGCTTTACCATTGCCTACAATTGTTCATGTATAACCTCGGC ATGTCTCTCTCCCACTTAACCCCAACATTTTAGTTCATCCAGTTCTAGCA CTTTAAACTCTCAACTGCCCTCTCCTTTCCATCCATACTGTCCTAGTTCA GACCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTGATCATCTACCTC CATCATCCACTTTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1059		chrX	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(656): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTGTCCCTC CTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCT CACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	77	0.0130	663	c.-27 others(674): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LGR6_chr1_202188799_202324761	202204775	C C	CACACACA others(656): Show CACACACACACCTCCAAACACACACACACCCCTAACACACACCTCCTCCA AACACAAACCTCCAAACACACACACACCTCCAAACACACACACACCTAAC ACACACCTCCTCCAAACACACACACACTTCCAAACACACACACACCTCCA AACACACATACATCTCCAAACACACACACACCTAACACACGCACCTAGCA CACACTTCCTTCAAACACACACACCTCCAAAGACACACACACACCTAACA CACACCTCCTTCAAACACACACACCTAACACACACCTCCTTCAAACACAC ACACACACCTCCAAACACACACACACCTAACACACACCTCCTTCAAACAC ACACACACCTCCAAACACACACACCTAACACACACCTCCTTCAAACACAC ACACACCTCTCCAAACACACACACACACCTAACACACCCCCCCTTCAAAC ACACACACCTCTCCAAAAACACACACACACCTAACACACACCTCCTTCAA ACACACACACACCTCCAAACACAAACACACCTAACACACCCCTCCTTCAA ACACACACACCTCAAAACACACACACCTCCAAAAACACACACATACCTAA CACACACCTCCTTCAAACACACACACCTCCAAACACACACACACCTAACA CACACCTCTTTCAA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	4	0.2500	663	c.212 others(682): Show c.212+10584_212+10585insCTCCAAACACACACACACCCCTAACA CACACCTCCTCCAAACACAAACCTCCAAACACACACACACCTCCAAACAC ACACACACCTAACACACACCTCCTCCAAACACACACACACTTCCAAACAC ACACACACCTCCAAACACACATACATCTCCAAACACACACACACCTAACA CACGCACCTAGCACACACTTCCTTCAAACACACACACCTCCAAAGACACA CACACACCTAACACACACCTCCTTCAAACACACACACCTAACACACACCT CCTTCAAACACACACACACACCTCCAAACACACACACACCTAACACACAC CTCCTTCAAACACACACACACCTCCAAACACACACACCTAACACACACCT CCTTCAAACACACACACACCTCTCCAAACACACACACACACCTAACACAC CCCCCCTTCAAACACACACACCTCTCCAAAAACACACACACACCTAACAC ACACCTCCTTCAAACACACACACACCTCCAAACACAAACACACCTAACAC ACCCCTCCTTCAAACACACACACCTCAAAACACACACACCTCCAAAAACA CACACATACCTAACACACACCTCCTTCAAACACACACACCTCCAAACACA CACACACCTAACACACACCTCTTTCAAACACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LHPP_chr10_124456823_124619141	124507025	G G	GATTTCAG others(656): Show GATTTCAGGTCGGGGGGTTAGAGAGGATTTCAGGTGGGAGGGTAGGCAGG ATTTCAGGTCAGGGGGATAGACAGGATTTCAGGTGGGGGGATAGGGAAGA TTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGCAGGAT TTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATT TCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTT CAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTT CAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAGGGAGGATTTC AGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCA GGTGTGGAGGGTAGACAGGATTTCAGGTGGGGAGGTAGGGAGGATTTCAG GTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGG TGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGG TGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGT GGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTG GGGGGATAGGGAGT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	240	0.0042	663	c.624 others(680): Show c.624+8906_624+8907insCGGGGGGTTAGAGAGGATTTCAGGTGGG AGGGTAGGCAGGATTTCAGGTCAGGGGGATAGACAGGATTTCAGGTGGGG GGATAGGGAAGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGG GGTAGGCAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGA TAGGGAGTATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGT AGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTA GGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGAGGTAG GGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGG GAGTATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGA CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACA GGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(656): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCA AAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAACTGTT TAAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATCCC AGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGAGA CCATCCTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAAAA TTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCTGA GATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCTCA AAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAAAGTACCTTC TTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGC TGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCTCCCAGGT TCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	194	0.0052	663	c.56 others(674): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGT AACTGGATATAACTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTG TCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAGCTCCG CCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTTTAGTAG AGACAGGTTTCACTGTGTTAGCAAGGATGGTCTCGATCTCCTGACCTCGT GATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCA CTGCGCCTGGCGAGAACATTTTTTTTTTTAAACAGTTAATTGGCCGGGCG TGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGGTGG ATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCC GTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGGGTGCCTG TAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(656): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCA AAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAACTGTT TAAAAAAAAAATGTTCTCCCAGGCGCAGTGGCTCATGCCTGTAATCCCAG CACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACC ATCCTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAAAATT AGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCTGAGA TCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCTCAAA AAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAAAGTACCTTCT TTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGC TGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCTCCCAGGT TCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	194	0.0052	663	c.56 others(674): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGG TAACTGGATATAACTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTC TGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAGCTC CGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTTTAGT AGAGACAGGTTTCACTGTGTTAGCAAGGATGGTCTCGATCTCCTGACCTC GTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGC CACTGCGCCTGGGAGAACATTTTTTTTTTAAACAGTTAATTGGCCGGGCG TGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGGTGG ATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCC GTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGGGTGCCTG TAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar

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