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
CACNG6_chr19_53986637_54017666	53991045	G G	GCCCAGGC others(287): Show GCCCAGGCCTTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCC TCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAG GAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCC CAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCC TCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAG TTCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0293 a0001c0001t0033g0293	1	285	0.0035	294	c.-18 others(305): Show c.-1833_-1832insCCCAGGCCTTCCTCCCTCAGACCCAGGAGCCCAG GCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTC CTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCC AGGAGTTCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCC CCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTC CCTCAGACCCAGGAGTTCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGG AGCCCAGGCC	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		591		chr19	TogoVar
CACNG6_chr19_53986637_54017666	53991045	G G	GCCCAGGC others(287): Show GCCCAGGCCTTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCC TCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAG GAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCC CAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCC TCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAG TTCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0278 a0001c0001t0002g0278	1	285	0.0035	294	c.-18 others(305): Show c.-1833_-1832insCCCAGGCCTTCCTCCCTCAGACCCAGGAGCCCAG GCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTC CTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCC AGGAGTTCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCC CCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTC CCTCAGACCCAGGAGTTCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGG AGTCCAGGCC	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		591		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53990526	C C	CCCAGGCC others(287): Show CCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGC ACCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCA GACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCA GACCCCCAGCACCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCC TCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGAC CCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01257.hp2 HG01258.hp1 others(9): Show HG00558.hp2 HG01257.hp2 HG01258.hp1 HG02683.hp2 HG02735.hp2 HG04199.hp2 NA18971.hp1 NA18992.hp1 NA18994.hp1 NA19030.hp1 NA19043.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0009 a0001c0001t0021 a0001c0001t0037 others(6): Show a0001c0001t0009 a0001c0001t0021 a0001c0001t0037 a0001c0001t0069 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0135 a0001c0004t0061	a0001c0001t0009g0185 a0001c0001t0021g0181 a0001c0001t0021g0193 others(9): Show a0001c0001t0009g0185 a0001c0001t0021g0181 a0001c0001t0021g0193 a0001c0001t0021g0252 a0001c0001t0037g0088 a0001c0001t0037g0179 a0001c0001t0069g0174 a0001c0001t0072g0190 a0001c0001t0073g0192 a0001c0001t0074g0173 a0001c0001t0135g0175 a0001c0004t0061g0178	12	364	0.0330	294	c.76 others(305): Show c.7677_*7678insCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGG AGTCCAGGCCCCAGCACCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCA GCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTC AGACCCAGGAGTCCAGACCCCCAGCACCTCCTCCCTCAGACCCAGGAGTC CAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCC CCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAG ACCCAGGAGT	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		312		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53991045	G G	GCCCAGGC others(287): Show GCCCAGGCCTTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCC TCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAG GAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCC CAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCC TCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAG TTCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0211 a0001c0001t0014g0211	1	277	0.0036	294	c.81 others(305): Show c.8196_*8197insCCCAGGCCTTCCTCCCTCAGACCCAGGAGCCCAG GCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTC CTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCC AGGAGTTCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCC CCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTC CCTCAGACCCAGGAGTTCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGG AGCCCAGGCC	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		831		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53991045	G G	GCCCAGGC others(287): Show GCCCAGGCCTTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCC TCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAG GAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCC CAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCC TCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAG TTCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	277	0.0036	294	c.81 others(305): Show c.8196_*8197insCCCAGGCCTTCCTCCCTCAGACCCAGGAGCCCAG GCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTC CTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCC AGGAGTTCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCC CCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTC CCTCAGACCCAGGAGTTCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGG AGTCCAGGCC	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		831		chr19	TogoVar
CADM1_chr11_115164236_115509415	115328703	T T	TATATACA others(287): Show TATATACATATATATGTGTATATATATGTATATACATATATATGTGTATA TATATGTATATACATATATATGTGTATATATATGTATATACATATATATG TGTATATATATGTATATACATATATATGTGTATATATATGTATATACATA TATATATGTGTATATATATGTATATACATATATATATGTGTATATATATG TATATACATATATATGTGTATATATATGTATATACATATATATATGTGTA TATATATGTATATACATATATATATGTGTATATATATGTATATAC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	49	0.0204	294	c.125 others(313): Show c.125-88284_125-88283insGTATATACATATATATACACATATAT ATATGTATATACATATATATACACATATATATATGTATATACATATATAT ACACATATATATGTATATACATATATATACACATATATATATGTATATAC ATATATATACACATATATATATGTATATACATATATATACACATATATAT GTATATACATATATATACACATATATATGTATATACATATATATACACAT ATATATGTATATACATATATATACACATATATATGTATATACATATATAT ACACATATATATGTATAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CAMK1D_chr10_12344547_12840545	12776122	A A	AGACTGTG others(287): Show AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCA GGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAG ACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAG GCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01168.hp1 HG02280.hp1 others(2): Show HG00323.hp2 HG01168.hp1 HG02280.hp1 HG02922.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0039 a0001c0001t0075 others(2): Show a0001c0001t0003 a0001c0001t0039 a0001c0001t0075 a0001c0001t0079 a0001c0002t0063	a0001c0001t0003g0141 a0001c0001t0039g0157 a0001c0001t0075g0210 others(2): Show a0001c0001t0003g0141 a0001c0001t0039g0157 a0001c0001t0075g0210 a0001c0001t0079g0151 a0001c0002t0063g0201	5	13	0.3846	294	c.565 others(311): Show c.565+6323_565+6324insGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGG CTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGG TGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGC TCAGGCATTGATCAGC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10			chr10	TogoVar
CAMK2D_chr4_113446032_113766738	113621259	T T	TCTGAATA others(287): Show TCTGAATATGCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0163 a0001c0001t0004g0163	1	274	0.0036	294	c.221 others(313): Show c.221-12054_221-12053insCTTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAATGCATATTCAG	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	3/20			chr4	TogoVar
CAMSAP2_chr1_200733893_200865704	200817181	C C	CACACATA others(287): Show CACACATATAAGTGTGTGTATACACACATACACACATGTGTGTGTGTATA CACACATACACACATGTGTGTGTGTATACACACATACACACATATGTGTG TGTATATACACACATACACACATATGTGTGTGTATATACACACATACACA CATATGTGTGTGTATATACACACATACACACATATGTGTGTGTATATACA CACATACACACATATGTGTGTGTATATACACACATACACACATATGTGTG TGTATATACACACATACACACATATGTGTGTGTATATACACACAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0008 a0003c0004t0008	a0003c0004t0008g0193 a0003c0004t0008g0193	1	357	0.0028	294	c.645 others(311): Show c.645+1542_645+1543insTATAAGTGTGTGTATACACACATACACA CATGTGTGTGTGTATACACACATACACACATGTGTGTGTGTATACACACA TACACACATATGTGTGTGTATATACACACATACACACATATGTGTGTGTA TATACACACATACACACATATGTGTGTGTATATACACACATACACACATA TGTGTGTGTATATACACACATACACACATATGTGTGTGTATATACACACA TACACACATATGTGTGTGTATATACACACATACACACATATGTGTGTGTA TATACACACATACACA	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC77_chr12_396644_447642	420494	A A	AAAACACA others(287): Show AAAACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTG TGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACACTCCATG CTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA ACACACATAGCAGCACACTCCATGCTCCATTACAGTGCTCTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGTT CCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp2 HG02109.hp2 HG02559.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0001 a0002c0002t0001 a0004c0004t0001	a0002c0002t0001g0322 a0004c0004t0001g0085 a0002c0002t0001g0322 a0004c0004t0001g0085	2	428	0.0047	294	c.413 others(311): Show c.413+1861_413+1862insCACACATAGCAGCACCCTCCATGTTCCA TTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACAC ATAGCAGCACACTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGC TGGGAGTGAGAGGGTAAAACACACATAGCAGCACACTCCATGCTCCATTA CAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACAT AGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTG GGAGTGAGAGGGTAAA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	420568	A A	AAACACAC others(287): Show AAACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCGCTTCTGTGT GTGTGTGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACCCTCCAT GTTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAA AATACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTG TGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTT CCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01943.hp1 HG00639.hp2 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0211 a0001c0001t0001g0212	2	421	0.0048	294	c.413 others(311): Show c.413+1934_413+1935insCACACATAGCAGCACCCTCCATGCTCCA TTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACAC ACATAGCAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTGT GCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGCTCCAT TACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACA TAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCT GGGAGTGAGAGGGTAA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	421529	A A	ACACACAT others(287): Show ACACACATAGCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGTAAATACACATAGCAGCACACTCCATGTTC CATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACAC ACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGT GCTGGGAGTGAGAGGGTAAACACACATAGCAGCACACTCCATGTTCCATT ACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAAT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19060.hp2 NA19064.hp2 NA18971.hp2 NA19060.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0201 a0001c0001t0001g0284 a0001c0001t0001g0285	3	365	0.0082	294	c.413 others(311): Show c.413+2893_413+2894insCACACATAGCAGCACACTCCATGTTCCA TTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACAC ATAGCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGC TGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTTCCATTAC AGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAG CAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGCTGGG AGTGAGAGGGTAAAAT	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12			chr12	TogoVar
CCDC88C_chr14_91266323_91422820	91293558	G G	GCCTGCCA others(287): Show GCCTGCCACGGCCCACCTTCCTGTCCCCTCGCCTGCCACAGCCCACCTTC CTGTCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACA GCCCACCTTCCTGTCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTC GCCTGCCACAGCCCACCTTCCTGTCCCCTCGCCTGCCACGGCCCACCTTC CCGTCCTCACCTGCCACGGTCCACCTTCCCATCCTCACCTGCCACAGCTC ACCTTCCCATCCTCACCTGCCACGGCCTACCTTCCTGTCCCCTCA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0282 a0003c0003t0006g0282	1	163	0.0061	294	c.411 others(311): Show c.4112+614_4112+615insTGAGGGGACAGGAAGGTAGGCCGTGGCA GGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAGGTGGACC GTGGCAGGTGAGGACGGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAA GGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAG GGGACAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGT GGCAGGCGAGGGGACAGGAAGGTGGGCTGTGGCAGGCGAGGGGACAGGAA GGTGGGCCGTGGCAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCKAR_chr4_26476396_26495484	26484866	A A	ACCCAATC others(287): Show ACCCAATCTCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18942.hp2 NA18944.hp1 others(6): Show HG02074.hp2 NA18942.hp2 NA18944.hp1 NA18965.hp2 NA18966.hp1 NA19002.hp1 NA19060.hp2 NA19074.hp1 NA19082.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0013 a0001c0001 a0001c0002 a0004c0013	a0001c0001t0003 a0001c0002t0003 a0004c0013t0003 a0001c0001t0003 a0001c0002t0003 a0004c0013t0003	a0001c0001t0003g0023 a0001c0002t0003g0041 a0001c0002t0003g0101 others(2): Show a0001c0001t0003g0023 a0001c0002t0003g0041 a0001c0002t0003g0101 a0001c0002t0003g0115 a0004c0013t0003g0110	9	353	0.0255	294	c.626 others(309): Show c.626+770_626+771insCAGCACTTTGGGAGGCCGAGGCGGGCGGAT CACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGT CTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAATAGAGATTGGG	CCKAR	ENSG00000163394.6	transcript	ENST00000295589.4	protein_coding	3/4			chr4	TogoVar
CCSER1_chr4_90122394_91610295	90579817	C C	CAAGACTT others(287): Show CAAGACTTCTTGTGGACAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGCCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0034	1	36	0.0278	294	c.172 others(315): Show c.1725-48193_1725-48192insCAGCACTTTGGGAGGCCGAGGCGG GCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAA CCCCGCCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAGACTTCTTGTGGA	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER2_chr10_84323589_84523517	84501834	A A	AAAAAATA others(287): Show AAAAAATATATATATATATATATATATATATATATATATATACACACTCA TATATATATATATATATACTCATATATATATATATATACTCATATATATA TATATATACTCATATATATATATATACTCATATATATATATATATACTCA TATATATATATATACTCATATATATATATACTCATATATATATATACTCA TATATATATATATACACTCATATATATATATATACACTCATATATATATA TATATATACTCATATATATATATATATATACTCATATATATATAT	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0011 a0002c0003t0006g0011	1	218	0.0046	294	c.232 others(315): Show c.2326-11614_2326-11613insAAAATATATATATATATATATATA TATATATATATATATACACACTCATATATATATATATATATACTCATATA TATATATATATACTCATATATATATATATATACTCATATATATATATATA CTCATATATATATATATATACTCATATATATATATATACTCATATATATA TATACTCATATATATATATACTCATATATATATATATACACTCATATATA TATATATACACTCATATATATATATATATATACTCATATATATATATATA TATACTCATATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CD247_chr1_167425640_167523529	167435144	T T	TCCTCCGG others(287): Show TCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCC TCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTT CCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTC CTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTC CTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCC TCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03139.hp1 NA19043.hp1 others(1): Show HG01175.hp1 HG03139.hp1 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0180 a0001c0002t0001g0267 a0001c0002t0001g0355 others(1): Show a0001c0002t0001g0180 a0001c0002t0001g0267 a0001c0002t0001g0355 a0001c0002t0001g0368	4	357	0.0112	294	c.336 others(309): Show c.336+254_336+255insGGGCTGGAGGAAGGGCTGGAGGAGGGCTCC GGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTG GAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGG AGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGG AGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGA GGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAG GAGGGCTCCGGAGG	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7			chr1	TogoVar
CD247_chr1_167425640_167523529	167435144	T T	TCCTCCGG others(287): Show TCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCC TCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTT CCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTC CTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCTTCCGGAGCCCTC CTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCC TCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0249 a0001c0002t0001g0249	1	354	0.0028	294	c.336 others(309): Show c.336+254_336+255insGGGCTGGAGGAAGGGCTGGAGGAGGGCTCC GGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTG GAGGAAGGGCTGGAGGAGGGCTCCGGAAGAAGGGCTGGAGGAAGGGCTGG AGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGG AGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGA GGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAG GAGGGCTCCGGAGG	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7			chr1	TogoVar
CD300A_chr17_74461634_74489794	74482697	C C	CCTTCCTT others(287): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCCTCCCTC CCTCCCTCCCTCCCTCCTCCCTCCTCCTCCCTCCCTCCCTCCCTCCTTCC TTCCTTCCTTCCTTCCCTTCCTTCTTCCTTCCTTCCTTCCTTCCTCTCCT TCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTGTTCTTT CTTTCTTTCTTTCTTTCTTCTTCTTTCTTTCTTTCTTTCTTTCTTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0123 a0006c0006t0001g0123	1	189	0.0053	294	c.774 others(309): Show c.774+867_774+868insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCCCTCCCTCCCTCCCTCCCTCCCTCCTCCCTCCTCCTCCCTCC CTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCCTTCCTTCTTCCTTCCTT CCTTCCTTCCTCTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC TTTCTTTCTGTTCTTTCTTTCTTTCTTTCTTTCTTCTTCTTTCTTTCTTT CTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTT	CD300A	ENSG00000167851.15	transcript	ENST00000360141.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
CDH4_chr20_61247261_61945617	61264496	T T	TCAGTGGC others(287): Show TCAGTGGCTCCTTCATTCAGTCCTACACATACCCCAGTGGCTCCTTCATT CAATCTTATACATACCTCAGTGGTTCCTTCATTCAATCTTACACATACAG TGGCTCCTTCATTCAGTCCTACACATATCTCAGTGGTTCCTTCATTCAAT CTTACACATACCTCAGTGGCTCCTTCATTCAATCTTACACATATCTCAGT GGCTCCTTCATTCAGTCCTACACATACCCCAGTGGCTCCTTCATTCAGTC CTACACATACCCCAGTGGCTCCTTCATTCAGTCCTAGACATACCC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03195.hp1 HG02809.hp2 HG03195.hp1	a0003 a0003	a0003c0017 a0003c0018 a0003c0017 a0003c0018	a0003c0017t0002 a0003c0018t0043 a0003c0017t0002 a0003c0018t0043	a0003c0017t0002g0053 a0003c0018t0043g0052 a0003c0017t0002g0053 a0003c0018t0043g0052	2	106	0.0189	294	c.169 others(311): Show c.169+9576_169+9577insAGTCCTACACATACCCCAGTGGCTCCTT CATTCAATCTTATACATACCTCAGTGGTTCCTTCATTCAATCTTACACAT ACAGTGGCTCCTTCATTCAGTCCTACACATATCTCAGTGGTTCCTTCATT CAATCTTACACATACCTCAGTGGCTCCTTCATTCAATCTTACACATATCT CAGTGGCTCCTTCATTCAGTCCTACACATACCCCAGTGGCTCCTTCATTC AGTCCTACACATACCCCAGTGGCTCCTTCATTCAGTCCTAGACATACCCC AGTGGCTCCTTCATTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61795134	A A	AATGGTGA others(287): Show AATGGTGATGGTGATGATGATGGTAGTGATGATGGTGATGGTAGTGATAA TGGTGATGATGATGGTGATGGTAGTGATGGTGATGATGATGGTAATGGTA GTGATGATGGTGATGGTAGTGATAATGGTGGTGATGGTGATGATGATGGT AGTAATGATGATGATGGTAGTGATGATGGTGATGGTAGTGATAATGGTGA TGATGGTGATGGTGATGATGGTGATGATGATGGTAGTGATAATGGGGATG ATGATGGTGATGGTAGTGATGATGGTGATGATGGTAATGGTAGTG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0034 a0001c0003t0034	a0001c0003t0034g0023 a0001c0003t0034g0023	1	55	0.0182	294	c.576 others(313): Show c.576+21955_576+21956insGTGATGGTGATGATGATGGTAGTGAT GATGGTGATGGTAGTGATAATGGTGATGATGATGGTGATGGTAGTGATGG TGATGATGATGGTAATGGTAGTGATGATGGTGATGGTAGTGATAATGGTG GTGATGGTGATGATGATGGTAGTAATGATGATGATGGTAGTGATGATGGT GATGGTAGTGATAATGGTGATGATGGTGATGGTGATGATGGTGATGATGA TGGTAGTGATAATGGGGATGATGATGGTGATGGTAGTGATGATGGTGATG ATGGTAATGGTAGTGATG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61795134	A A	AATGGTGA others(287): Show AATGGTGATGGTGATGATGATGGTAGTGATGATGGTGATGGTAGTGATAA TGGTGATGATGATGGTGATGGTAGTGATGGTGGTGATGATGGTAATGGTA GTGATGATGGTGATGGTAGTGATAATGGTGATGATGGTGATGATGATGGT AGTAATGATGATGATGGTAGTGATGATGGTGATGGTAGTGATAATGGTGA TGATGGTGATGGTGATGATGGTGATGATGATGGTAGTGATAATGGGGATG ATGATGGTGATGGTAGTGATGATGGTGATGATGGTAATGGTAGTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01106.hp2 HG01243.hp2 others(25): Show HG00423.hp1 HG01106.hp2 HG01243.hp2 HG01346.hp1 HG02109.hp1 HG02109.hp2 HG02148.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA18952.hp1 NA18952.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0006 others(9): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0010 a0001c0023 a0002c0002 a0002c0004 a0002c0008 a0002c0015 a0002c0016 a0003c0017	a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 others(23): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0044 a0001c0001t0046 a0001c0003t0001 a0001c0003t0004 a0001c0003t0035 a0001c0006t0045 a0001c0007t0009 a0001c0010t0001 a0001c0023t0042 a0002c0002t0014 a0002c0002t0023 a0002c0004t0001 a0002c0004t0012 a0002c0004t0033 a0002c0008t0003 a0002c0015t0007 a0002c0016t0003 a0003c0017t0002	a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0049 others(25): Show a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0049 a0001c0001t0008g0021 a0001c0001t0013g0106 a0001c0001t0016g0064 a0001c0001t0017g0039 a0001c0001t0027g0019 a0001c0001t0028g0092 a0001c0001t0030g0089 a0001c0001t0044g0085 a0001c0001t0046g0062 a0001c0003t0001g0037 a0001c0003t0004g0054 a0001c0003t0035g0043 a0001c0006t0045g0070 a0001c0007t0009g0017 a0001c0010t0001g0027 a0001c0023t0042g0084 a0002c0002t0014g0072 a0002c0002t0023g0102 a0002c0004t0001g0033 a0002c0004t0012g0016 a0002c0004t0033g0095 a0002c0008t0003g0041 a0002c0015t0007g0025 a0002c0016t0003g0042 a0003c0017t0002g0053	28	82	0.3415	294	c.576 others(313): Show c.576+21955_576+21956insGTGATGGTGATGATGATGGTAGTGAT GATGGTGATGGTAGTGATAATGGTGATGATGATGGTGATGGTAGTGATGG TGGTGATGATGGTAATGGTAGTGATGATGGTGATGGTAGTGATAATGGTG ATGATGGTGATGATGATGGTAGTAATGATGATGATGGTAGTGATGATGGT GATGGTAGTGATAATGGTGATGATGGTGATGGTGATGATGGTGATGATGA TGGTAGTGATAATGGGGATGATGATGGTGATGGTAGTGATGATGGTGATG ATGGTAATGGTAGTGATG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CENPJ_chr13_24877279_24927861	24882070	A A	ATAGATAC others(287): Show ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT ATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0011 a0001c0002t0007g0011	1	431	0.0023	294	c.11 others(305): Show c.1106_*1107insGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG TATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTA TCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATC TATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTA TAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATA GATGTATCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		208		chr13	TogoVar
CHMP1A_chr16_89639435_89662708	89647564	A A	ACACCCAG others(287): Show ACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAG TGCGGGGTCCGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGAGACCCAGTGCGGGGTCCGTGGAGAAAAGGCCGCCGACGT GGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0191 a0001c0001t0005g0191	1	383	0.0026	294	c.253 others(309): Show c.253-234_253-233insCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCACTGGGTCTCCACGTCGGCGGCCTTTTCTCCACGGACCCCGCACTG GGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTTTC TCCACGGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGA CCCCGCGCTGGGTG	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647565	G G	GACCCAGT others(287): Show GACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGT GCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTC GGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCG CCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTG GAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18995.hp1 NA18940.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0217 a0001c0001t0002g0207 a0001c0001t0002g0217	2	386	0.0052	294	c.253 others(309): Show c.253-235_253-234insGTCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCACTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACT GGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCC ACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGC GGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTTT CTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCG ACCCCGCACTGGGT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647607	G G	GACCCAGT others(287): Show GACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGT GCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTC GGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCG CCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTG GACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAC	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0235 a0001c0001t0002g0235	1	386	0.0026	294	c.253 others(309): Show c.253-277_253-276insGTCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACT GGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCC ACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGC GGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTT CTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCG ACCCCGCACTGGGT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647623	G G	GGTGGAGA others(287): Show GGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGG CCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTG GAGACCCAGCGCGGGGTCCGTGGAGAAAAGGCCGCCGACGTGGAGACCCA GCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGG TCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0083	1	386	0.0026	294	c.253 others(309): Show c.253-293_253-292insCGACCCCGCGCTGGGTCTCCACGTCGGCGG CCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCT CCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACGGAC CCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCT GGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCC ACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGC GGCCTTTTCTCCAC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647648	G G	GGACCCAG others(287): Show GGACCCAGTGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAG CGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18977.hp2 NA19065.hp1 HG00423.hp1 NA18977.hp2 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0019 a0001c0001t0001g0253 a0002c0005t0001g0264 a0001c0001t0001g0019 a0001c0001t0001g0253 a0002c0005t0001g0264	3	143	0.0210	294	c.253 others(309): Show c.253-318_253-317insTCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTG GGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCCGCCTTTTC TCCACCGACCCCGCGCTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGA CCCCGCACTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647649	G G	GACCCAGT others(287): Show GACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGC GCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGACCCAGCGCGGGGTC GGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCG CCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTG GGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	366	0.0027	294	c.253 others(309): Show c.253-319_253-318insGTCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCT GGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCC ACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGC GGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCCGCCTTTT CTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCG ACCCCGCACTGGGT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647649	G G	GACCCAGT others(287): Show GACCCAGTGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGC GCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGACCCAGCGCGGGGTC GGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCG CCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTG GACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01928.hp2 NA19009.hp2 HG01255.hp1 HG01928.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0262 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0262	3	368	0.0082	294	c.253 others(309): Show c.253-319_253-318insGTCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCGCTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCT GGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCC ACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGC GGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCCGCCTTTT CTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCG ACCCCGCACTGGGT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647649	G G	GACCCAGT others(287): Show GACCCAGTGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGC GCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGACCCAGCGCGGGGTC GGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCG CCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTG GACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	366	0.0027	294	c.253 others(309): Show c.253-319_253-318insGTCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCT GGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCC ACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGC GGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCCGCCTTTT CTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCG ACCCCGCACTGGGT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647732	G G	GGACCCAG others(287): Show GGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAG CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	238	0.0042	294	c.253 others(309): Show c.253-402_253-401insTCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTG GGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTC TCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGA CCCCGCGCTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647733	G G	GACCCAGT others(287): Show GACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGT GCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTC GGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCG CCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTG GAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA19056.hp2 NA18955.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0238 a0001c0001t0002g0004 a0001c0001t0002g0238	2	357	0.0056	294	c.253 others(309): Show c.253-403_253-402insGTCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCACTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACT GGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCC ACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGC GGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTTT CTCCACCGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCG ACCCCGCACTGGGT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647756	A A	AAAAGGCC others(287): Show AAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCC AGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGG AGCAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	390	0.0026	294	c.253 others(309): Show c.253-426_253-425insGCTCCACCGACCCCGCGCTGGGTCTCCACG TCGGCGGCCTTTGCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGC CTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTC CACCGACCCCGCGCTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTG GGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCA CGTCGGCGGCCTTT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648328	C C	CGCGGGGT others(287): Show CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGGGGAGACCCAGTGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGGGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGG GGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCC AGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	261	0.0038	294	c.253 others(309): Show c.253-998_253-997insACTGGGTCCCCACGTCGGCGGCCTTTTCTC CACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCACTGGGTCTCCCCGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTG GGTCTCCCCGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCACTGGGTCTCCCCGTCGGCGGCCTTTTC TCCACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648412	C C	CGCGGGGT others(287): Show CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGT GGAGACCCAGAGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCC AGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	230	0.0043	294	c.252 others(309): Show c.252+938_252+939insACTGGGTCTCCACGTCGGCCGCCTTTTCTC CACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCTCTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTG GGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTC TCCACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648412	C C	CGCGGGGT others(287): Show CGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGCGCGGGGT CGGTGGAGAAAAGGCGGCCGACGTGGACACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGT GGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGACACCC AGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	230	0.0043	294	c.252 others(309): Show c.252+938_252+939insACTGGGTCTCCACGTCGGCGGCCTTTTCTC CACCGACCCCGCGCTGGGTGTCCACGTCGGCCGCCTTTTCTCCACCGACC CCGCGCTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTG GGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTGTCCACGTCGGCC GCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCCGCCTTTTC TCCACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CLCN5_chrX_49917596_50104230	50022388	T T	TAGCGGTC others(287): Show TAGCGGTCTATCAATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATCAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0166 a0001c0003t0003g0166	1	161	0.0062	294	c.17- others(311): Show c.17-19911_17-19910insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATCACA GCGGTCTATCAATTTT	CLCN5	ENSG00000171365.17	transcript	ENST00000376091.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
CMKLR2_chr2_206170316_206218371	206172692	A A	AGGGAGAG others(287): Show AGGGAGAGGGAGACGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA CGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGACGGGAGAGGGAGA GGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGA GGGAGACGGGAGAGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGA GGGAGACGGGAGAGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGA GGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	317	0.0032	294	c.34 others(305): Show c.3487_*3488insGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTC TCCCGTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCTC TCCCGTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCTC TCCCGTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGT CTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCGTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCGTC TCCCTCTCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2623		chr2	TogoVar
CNIH4_chr1_224351879_224384452	224378516	A A	ACTGAGGC others(287): Show ACTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATG CTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGC TGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCT GAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTG AGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGA GGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG00733.hp1 others(24): Show HG00323.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp2 HG01515.hp1 HG01891.hp1 HG01981.hp1 HG02280.hp1 HG02559.hp1 HG02615.hp1 HG02630.hp2 HG02735.hp1 HG02886.hp1 HG02896.hp1 HG02970.hp2 HG03098.hp1 HG03540.hp1 HG03831.hp1 HG03927.hp2 HG04115.hp1 HG04228.hp1 NA18906.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0020 a0001c0001t0025 others(2): Show a0001c0001t0003 a0001c0001t0020 a0001c0001t0025 a0001c0001t0033 a0001c0001t0049	a0001c0001t0003g0006 a0001c0001t0003g0010 a0001c0001t0003g0011 others(10): Show a0001c0001t0003g0006 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0024 a0001c0001t0003g0031 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0020g0011 a0001c0001t0020g0073 a0001c0001t0025g0068 a0001c0001t0033g0044 a0001c0001t0049g0011	27	42	0.6429	294	c.28 others(305): Show c.2800_*3093dupCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACA TCTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACAT CTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATC TGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCT GAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTG AATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGA ATGCTGAGGC	CNIH4	ENSG00000143771.12	transcript	ENST00000465271.6	protein_coding	5/5	3094	INFO_REALIGN_3_PRIME	chr1	TogoVar
COL21A1_chr6_56051590_56252580	56098448	T T	TATAAATA others(287): Show TATAAATATATATAAATATATAAATATATATAAATATATATATAAATATA TATAAATATATAAATATATATGTAAATATATAAATATATATAAATATATA TATAAATATATATATAAATATATATAAATATATAAATATATATAAATACA TATGTAAATATATAAATATATATAAATATATAAATATATATAGATATATA TAAATATATACAAATATATATAGATATATATATAAATATATATAAATATA TATAGATATATATATAAATATATATAAATATATAGATATATATAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0166 a0001c0002t0002g0166	1	18	0.0556	294	c.181 others(313): Show c.1812+3023_1812+3024insTTATATATATCTATATATTTATATAT ATTTATATATATATCTATATATATTTATATATATTTATATATATATCTAT ATATATTTGTATATATTTATATATATCTATATATATTTATATATTTATAT ATATTTATATATTTACATATGTATTTATATATATTTATATATTTATATAT ATTTATATATATATTTATATATATATTTATATATATTTATATATTTACAT ATATATTTATATATTTATATATATTTATATATATATTTATATATATTTAT ATATTTATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL4A2_chr13_110302284_110518209	110355843	G G	GGGAGGGC others(287): Show GGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCAGTAGC TCACCTGTGTGGGGGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGG GGAGGGCTGCAGTAGCTCACCTGTGTGGGGGGGGGAGGGCTGCAGTAGCT CACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGAGTGGGG GAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTC ACCTGTGTGTGGGGGTGGAGGGCTGTACAGCTCACCTGTGTGAGT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0008 a0003c0007t0008	a0003c0007t0008g0186 a0003c0007t0008g0186	1	237	0.0042	294	c.100 others(311): Show c.100-1627_100-1626insAGGGCTGCACTAGCTCACCTGTGTGTGT GGGGGAGGGCTGCAGTAGCTCACCTGTGTGGGGGGGGGAGGGCTGCACTA GCTCACCTGTGTGTGTGGGGGAGGGCTGCAGTAGCTCACCTGTGTGGGGG GGGGAGGGCTGCAGTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAG CTCACCTGTGTGAGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGG GGGAGGGCTGCACTAGCTCACCTGTGTGTGGGGGTGGAGGGCTGTACAGC TCACCTGTGTGAGTGG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481803	T T	TTGCTGGA others(287): Show TTGCTGGAGACACACTGTTCTGTCCCTCTGTGCTGGAGACACACTGTTCT GTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACA CACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCGTT GCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGT CCCTCCGTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACA CTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0280 a0001c0001t0004g0280	1	239	0.0042	294	c.275 others(311): Show c.2759-697_2759-696insTTCTGTCCCTCTGTGCTGGAGACACACT GTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGG AGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTT CCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGC TCTGTCCCTCCGTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAG ACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCG TGCTGGAGACACACTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481814	A A	ACACTGTT others(287): Show ACACTGTTCTGTCCCTCTGTGCTGGAGACACACTGTTCTGTCCCTCCGTT GCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACACAGTTCTGT CCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCGTTGCTGGAGACAC ACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCT GGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCC CTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0158 a0001c0002t0005g0158	1	370	0.0027	294	c.275 others(311): Show c.2759-697_2759-696insTTCTGTCCCTCTGTGCTGGAGACACACT GTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGG AGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTT CCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGC TCTGTCCCTCCGTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAG ACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCG TGCTGGAGACCCACTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227203363	A A	ACACATAT others(287): Show ACACATATGTGTATATATGTGTGTATATGTGTATATACACATACACATAC ATGTGTGTATATGTGTATATACACATACACATACATGTGTGTATATGTGT ATATACACATACACATACATGTGTGTATATGTGTATATACACATACACAT ACATGTGTGTATATGTGTATATACACATACACATACATGTGTGTATATGT GTATATACACATACACATACATGTGTGTATATGTGTATATACACATACAC ATACATGTGTGTATATGTGTATATACACATACACATACATGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0007 a0005c0005t0007	a0005c0005t0007g0139 a0005c0005t0007g0139	1	317	0.0032	294	c.88- others(311): Show c.88-34605_88-34604insCACATATGTGTATATATGTGTGTATATG TGTATATACACATACACATACATGTGTGTATATGTGTATATACACATACA CATACATGTGTGTATATGTGTATATACACATACACATACATGTGTGTATA TGTGTATATACACATACACATACATGTGTGTATATGTGTATATACACATA CACATACATGTGTGTATATGTGTATATACACATACACATACATGTGTGTA TATGTGTATATACACATACACATACATGTGTGTATATGTGTATATACACA TACACATACATGTGTG	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
CPNE7_chr16_89570758_89602246	89587759	G G	GCGTGTCA others(287): Show GCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCA CAGAAACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCAC CCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCC ACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGG CCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACAC GGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0131 a0002c0003t0003g0131	1	313	0.0032	294	c.927 others(309): Show c.927+672_927+673insTACACGGCCCCCCGTGTCACCCGCGTGTCA CCCACAGAAACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTG TCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTC ACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGAAAC ACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGAT ACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCC GTGTCACCCACAGA	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRHBP_chr5_76948045_76974471	76974447	A A	AGGCTGCT others(287): Show AGGCTGCTTGCTATTTTTTTTTTTTTGAGACGGAGTCTCGGTCTGTCGCC CAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCACTGCAAGCTCCGCCTTC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGTCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0039 a0001c0001t0004g0039	1	298	0.0034	294	c.55 others(305): Show c.5562_*5563insGGCTGCTTGCTATTTTTTTTTTTTTGAGACGGAG TCTCGGTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCACT GCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	CRHBP	ENSG00000145708.11	transcript	ENST00000274368.9	protein_coding		4977		chr5	TogoVar
CRHBP_chr5_76948045_76974471	76974447	A A	AGGCTGCT others(287): Show AGGCTGCTTGCTATTTTTTTTTTTTTGAGACGGAGTCTCGTTCTGTCGCC CAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCACTGCAAGCTCCGCCTTC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGTCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00438.hp2 others(104): Show HG00323.hp1 HG00423.hp2 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG01081.hp1 HG01175.hp2 HG01257.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01928.hp2 HG01975.hp1 HG01978.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02155.hp2 HG02523.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03471.hp2 HG03490.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp2 NA18945.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18982.hp2 NA18985.hp2 NA18989.hp1 NA18990.hp2 NA18993.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19076.hp2 NA19079.hp1 NA19083.hp1 NA19087.hp2 NA20129.hp2 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0011 others(59): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0187 a0001c0001t0002g0149 a0001c0001t0002g0180 a0001c0001t0004g0006 a0001c0001t0004g0011 a0001c0001t0004g0021 a0001c0001t0004g0032 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0087 a0001c0001t0004g0103 a0001c0001t0004g0112 a0001c0001t0004g0153 a0001c0001t0004g0186 a0001c0001t0004g0188 a0001c0001t0009g0179 a0001c0002t0001g0108	107	404	0.2649	294	c.55 others(305): Show c.5562_*5563insGGCTGCTTGCTATTTTTTTTTTTTTGAGACGGAG TCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCACT GCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	CRHBP	ENSG00000145708.11	transcript	ENST00000274368.9	protein_coding		4977		chr5	TogoVar
CRHBP_chr5_76948045_76974471	76974447	A A	AGGCTGCT others(287): Show AGGCTGCTTGCTATTTTTTTTTTTTTGAGACGGAGTCTCGTTCTGTCGCC CAGGCGGGAGTGCTGTGGCGTGATCTCCGCTCACTGCAAGCTCCGCCTTC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGTCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	298	0.0034	294	c.55 others(305): Show c.5562_*5563insGGCTGCTTGCTATTTTTTTTTTTTTGAGACGGAG TCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGTGATCTCCGCTCACT GCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	CRHBP	ENSG00000145708.11	transcript	ENST00000274368.9	protein_coding		4977		chr5	TogoVar
CSNKA2IP_chr3_88333456_88472594	88428992	T T	TAAAATTT others(287): Show TAAAATTTTAGCAAATTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01071.hp2 HG01074.hp1 others(9): Show HG00280.hp2 HG01071.hp2 HG01074.hp1 HG01257.hp1 HG01515.hp1 HG01516.hp2 NA18953.hp1 NA18954.hp1 NA18984.hp1 NA19054.hp2 NA19077.hp2 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0001c0017 others(1): Show a0001c0001 a0001c0004 a0001c0017 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0017t0001 a0003c0003t0001	a0001c0001t0001g0143 a0001c0001t0001g0162 a0001c0001t0001g0169 others(9): Show a0001c0001t0001g0143 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0233 a0001c0001t0001g0247 a0001c0001t0002g0288 a0001c0004t0001g0235 a0001c0017t0001g0225 a0003c0003t0001g0236	12	284	0.0423	294	c.-27 others(315): Show c.-270-36081_-270-36080insTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAATTTTAGCAAAT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar

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