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
CASZ1_chr1_10631604_10801646	10744344	C C	CGGCACCA others(305): Show CGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGG GCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGC ACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCAC CACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCA CGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACG AGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAG CAGGCATGTCCTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02155.hp1 HG01496.hp2 HG02155.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0010 a0001c0002 a0002c0010	a0001c0002t0004 a0002c0010t0021 a0001c0002t0004 a0002c0010t0021	a0001c0002t0004g0199 a0002c0010t0021g0231 a0001c0002t0004g0199 a0002c0010t0021g0231	2	236	0.0085	312	c.-77 others(331): Show c.-77+16045_-77+16356dupCAGGACATGCCTGCTCGTGGTGCCCA GGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGG ACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGAC ATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACAT GCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGC CTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCT GCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10744362	T T	TGTCCTGG others(305): Show TGTCCTGGGCACCACGAGCAGGCACGTCCTGGGCACCACGAGCAGGCACG TCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTC CTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCT GGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGG GCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCACGTCCTGGGC ACCACGAGCAGGCACGTCCTGGGCACCACGAGCAGGCACGTCCTGGGCAC CACGAGCAGGCAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0009 a0009	a0009c0043 a0009c0043	a0009c0043t0002 a0009c0043t0002	a0009c0043t0002g0055 a0009c0043t0002g0055	1	236	0.0042	312	c.-77 others(331): Show c.-77+16338_-77+16339insGTGCCTGCTCGTGGTGCCCAGGACGT GCCTGCTCGTGGTGCCCAGGACGTGCCTGCTCGTGGTGCCCAGGACGTGC CTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCT GCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGC TCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTC GTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACGTGCCTGCTCGT GGTGCCCAGGACGTGCCTGCTCGTGGTGCCCAGGAC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CCDC102B_chr18_68793080_69060189	68822512	T T	TTATTTTT others(305): Show TTATTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGGCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0181 a0003c0004t0001g0181	1	216	0.0046	312	c.-15 others(331): Show c.-15-14223_-15-14222insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGGCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTATTTTTGTTTTTT	CCDC102B	ENSG00000150636.17	transcript	ENST00000360242.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
CCDC126_chr7_23592382_23649708	23626050	T T	TAAAATTT others(305): Show TAAAATTTTATGTAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA18612.hp2 HG00140.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0337 a0001c0001t0001g0357 a0001c0001t0001g0337 a0001c0001t0001g0357	2	380	0.0053	312	c.238 others(331): Show c.238+14513_238+14514insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAATTTTATGTAGTA	CCDC126	ENSG00000169193.12	transcript	ENST00000307471.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC141_chr2_178824757_179055137	179015551	C C	CATATATC others(305): Show CATATATCTCATATATATGATATATATCTCATATATATGATATATATATC TCATATATCTCATATATATGATATATATCTCATATATCTCATATATATGA GATATATATCTCATATATCTCATATATATGATATATATATCTCATATATC TCATATATATGATATATATATCTCATATATCTCATATATATGATATATAT ATCTCATATATCTCATATATATGATATATATATCTCATATATCTCATATA TATGATATATATATCTCATATATCTCATATATATGATATATATATCTCAT ATATATGATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0052 a0001c0033t0052	a0001c0033t0052g0081 a0001c0033t0052g0081	1	274	0.0037	312	c.225 others(331): Show c.225+31732_225+31733insATATATCATATATATGAGATATATAT ATCATATATATGAGATATATGAGATATATATATCATATATATGAGATATA TGAGATATATATATCATATATATGAGATATATGAGATATATATATCATAT ATATGAGATATATGAGATATATATATCATATATATGAGATATATGAGATA TATATATCATATATATGAGATATATGAGATATATATCTCATATATATGAG ATATATGAGATATATATCATATATATGAGATATATGAGATATATATATCA TATATATGAGATATATATCATATATATGAGATATAT	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	2/23			chr2	TogoVar
CCDC73_chr11_32597721_32799662	32724609	T T	TGAAATCT others(305): Show TGAAATCTGTATTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03486.hp2 HG02572.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0257 a0001c0001t0002g0258	2	312	0.0064	312	c.136 others(329): Show c.136-6463_136-6462insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAGAAATACAGATTTC	CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	2/17			chr11	TogoVar
CCDC88A_chr2_55282842_55424856	55297381	A A	AAATATAT others(305): Show AAATATATAATATATATTATATATAAATATATATAATATATATTATATAT AATATATATAATATATATAATATATATTATATATTATATATAAATATATA TAATATATATTATATAATATATATTATATATAAATATATATAATATATAA TATATATTATATATAAATATATATAATATATAATATATATTATATATAAA TATATATAATATATAATATATATTATATATAAATATATATAATATATAAT ATATATTATATATAAATATATATAATATATAATATATATTATATATAAAT ATATATAATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03139.hp1 HG02145.hp2 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0013 a0001c0002t0006g0015 a0001c0002t0006g0013 a0001c0002t0006g0015	2	316	0.0063	312	c.482 others(329): Show c.4826-859_4826-858insATATATTATATATATTTATATATAATAT ATATTATATATTATATATATTTATATATAATATATATTATATATTATATA TATTTATATATAATATATATTATATATTATATATATTTATATATAATATA TATTATATATTATATATATTTATATATAATATATATTATATATTATATAT ATTTATATATAATATATATTATATAATATATATTATATATATTTATATAT AATATATAATATATATTATATATATTATATATATTATATATAATATATAT TATATATATTTATATATAATATATATTATATATT	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	29/32			chr2	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(305): Show GGCCCACCTTCCTGCCCCCTCACCTGCCACAGCTCACCTTCCCATCCTCA CCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCA TCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCCACC TTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAG CCCACCTTCCTGCCCCCTCACCTGCCACAGCTCACCTTCCCATCCTCACC CGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATC CTCACCTGCCACA	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18942.hp2 NA18952.hp2 others(3): Show HG00621.hp2 NA18942.hp2 NA18952.hp2 NA18963.hp1 NA19060.hp2 NA19084.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0001 a0002c0005t0001 a0002c0002t0001 a0002c0005t0001	a0002c0002t0001g0047 a0002c0002t0001g0094 a0002c0002t0001g0125 others(3): Show a0002c0002t0001g0047 a0002c0002t0001g0094 a0002c0002t0001g0125 a0002c0002t0001g0155 a0002c0002t0001g0158 a0002c0005t0001g0173	6	284	0.0211	312	c.411 others(329): Show c.4112+605_4112+606insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAG GTGAGCTGTGGCAGGTGAGGGGGCAGGAAGGTGGGCTGTGGCAGGTGAGG ATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGGGCTGTGGCAG GTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTG TGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGT GAGCTGTGGCAGGTGAGGGGGCAGGAAGGTGGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CD109_chr6_73691203_73833313	73795114	C C	CAAGATTT others(305): Show CAAGATTTAGTTTTTCTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTACAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02818.hp1 NA19240.hp2 HG02109.hp2 HG02818.hp1 NA19240.hp2	a0014 a0029 a0014 a0029	a0014c0018 a0029c0035 a0014c0018 a0029c0035	a0014c0018t0004 a0029c0035t0016 a0014c0018t0004 a0029c0035t0016	a0014c0018t0004g0326 a0014c0018t0004g0329 a0029c0035t0016g0241 a0014c0018t0004g0326 a0014c0018t0004g0329 a0029c0035t0016g0241	3	362	0.0083	312	c.287 others(331): Show c.2878+2330_2878+2331insCCGGGCGCAGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTACAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAGATTTAGTTTTTCTGG	CD109	ENSG00000156535.15	transcript	ENST00000287097.6	protein_coding	23/32		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD226_chr18_69848274_69952873	69894547	A A	AGAGAAAG others(305): Show AGAGAAAGGAGGGGAGGGGAGGGGAGGGAGGGGAGGGGAGGGGAGGGAGG GGAGGGGAGGGGAGGGGAGGGAGGGGAGGGGAGGGAAGGGAGGGAAGGGA GGGAAGGGAGGGAAGGGAGGGAAGGGAGGGAAGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGCAGATGGGGGCAGGGGAGGGGAGTGGATGGGGGCAGGG GAGGGGAGGGGAGGGGGAGGGAGACCGGAAGGGGAGGGAGACGGGGAGGG GAGGGAGACGGGGAGGGGGAGGGCAGGGGAGGGGAAGGGCAGGGGAGGGG AAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0007 a0001c0001t0048g0007	1	256	0.0039	312	c.727 others(329): Show c.727+1153_727+1154insCTCCCCTCCCCTTCCCCTCCCCTGCCCT TCCCCTCCCCTGCCCTCCCCCTCCCCGTCTCCCTCCCCTCCCCGTCTCCC TCCCCTTCCGGTCTCCCTCCCCCTCCCCTCCCCTCCCCTGCCCCCATCCA CTCCCCTCCCCTGCCCCCATCTGCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTT CCCTCCCCTCCCCTCCCTCCCCTCCCCTCCCCTCCCCTCCCTCCCCTCCC CTCCCCTCCCTCCCCTCCCCTCCCCTCCTTTCTC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(305): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACA CACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACG CATACACACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01358.hp2 NA19057.hp1 HG00741.hp2 HG01358.hp2 NA19057.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0008 a0002c0002t0002 a0002c0002t0008	a0002c0002t0002g0007 a0002c0002t0002g0017 a0002c0002t0008g0017 a0002c0002t0002g0007 a0002c0002t0002g0017 a0002c0002t0008g0017	3	442	0.0068	312	c.27 others(323): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTGT GTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACAT ATGTGTGTGTATACGCATACACACACAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(305): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACA CACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACG CATACACACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	442	0.0023	312	c.27 others(323): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTGT GTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACAT ATGTGTGTGTATACGCATACACACATAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CDH12_chr5_21745673_22858344	22408219	A A	ACAAGATA others(305): Show ACAAGATAGATTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	60	0.0167	312	c.-42 others(331): Show c.-427-2869_-427-2868insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAGAATCTATCTTG	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	2/14			chr5	TogoVar
CDH12_chr5_21745673_22858344	22408219	A A	ACAAGATA others(305): Show ACAAGATAGATTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02280.hp2 HG02559.hp1 others(3): Show HG00639.hp1 HG02280.hp2 HG02559.hp1 HG02896.hp2 HG03130.hp1 HG03579.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0013 a0003c0005	a0001c0001t0017 a0001c0002t0004 a0002c0003t0001 others(2): Show a0001c0001t0017 a0001c0002t0004 a0002c0003t0001 a0002c0013t0002 a0003c0005t0001	a0001c0001t0017g0025 a0001c0002t0004g0040 a0002c0003t0001g0058 others(3): Show a0001c0001t0017g0025 a0001c0002t0004g0040 a0002c0003t0001g0058 a0002c0013t0002g0034 a0003c0005t0001g0054 a0003c0005t0001g0056	6	60	0.1000	312	c.-42 others(331): Show c.-427-2869_-427-2868insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAGAATCTATCTTG	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	2/14			chr5	TogoVar
CDH7_chr18_65746012_65895337	65814365	T T	TGAAAAAG others(305): Show TGAAAAAGATAAATGATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0058 a0002c0003t0058	a0002c0003t0058g0099 a0002c0003t0058g0099	1	208	0.0048	312	c.506 others(327): Show c.506-105_506-104insTGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAGAAAAAGATAAATGA	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDS2_chr20_5122008_5202887	5168260	T T	TAAAAATT others(305): Show TAAAAATTATCTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02809.hp2 NA19030.hp1 HG02723.hp1 HG02809.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0017 a0001c0004t0016 a0001c0002t0017 a0001c0004t0016	a0001c0002t0017g0206 a0001c0004t0016g0051 a0001c0004t0016g0169 a0001c0002t0017g0206 a0001c0004t0016g0051 a0001c0004t0016g0169	3	348	0.0086	312	c.58- others(327): Show c.58-5249_58-5248insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAATTATCTGGG	CDS2	ENSG00000101290.14	transcript	ENST00000460006.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
CENPJ_chr13_24877279_24927861	24881962	C C	CTAGATAG others(305): Show CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCT AGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAG ATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATAT AGATACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 NA18946.hp1 HG02809.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0224 a0001c0001t0002g0006 a0001c0001t0002g0224	2	440	0.0046	312	c.12 others(323): Show c.1214_*1215insTCTAGATGTATCTATATATCTATCTAGATGTATC TATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATA TCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATC TAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATG TATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTA TATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATC TATCTAGATGTATCTATATATCTATCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		316		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881980	C C	CTAGATAG others(305): Show CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCT AGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAG ATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATAT AGATACATCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	440	0.0023	312	c.11 others(323): Show c.1196_*1197insTATAGATGTATCTATATATCTATCTAGATGTATC TATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATA TCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATC TAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATG TATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTA TATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATC TATCTAGATGTATCTATATATCTATCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		298		chr13	TogoVar
CENPV_chr17_16337537_16358469	16345411	A A	AATATAAA others(305): Show AATATAAAAATTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0041	1	356	0.0028	312	c.580 others(327): Show c.580-701_580-700insATATTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTAATTTTTATAT	CENPV	ENSG00000166582.11	transcript	ENST00000299736.5	protein_coding	3/4			chr17	TogoVar
CEP85L_chr6_118455772_118656591	118555851	T T	TTCATAAG others(305): Show TTCATAAGTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGGGTGCAGTGGCGCGACCTCGGCTCACTGCAAGCTC CACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCCGG GACCACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGGCGGGGTTTCACCGCGTTAGCCAGGATGGTCTCGATCTCCTGACCTC ATGATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp1 NA19240.hp2 HG02280.hp1 HG02572.hp1 NA19240.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0009 a0006c0006t0009	a0006c0006t0009g0244 a0006c0006t0009g0288 a0006c0006t0009g0289 a0006c0006t0009g0244 a0006c0006t0009g0288 a0006c0006t0009g0289	3	302	0.0099	312	c.102 others(331): Show c.1020+9677_1020+9678insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGAT CGAGACCATCCTGGCTAACGCGGTGAAACCCCGCCTCTACTAAAAATACA AAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTGGTCCCGGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGA GCCGAGGTCGCGCCACTGCACCCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAGAACTTATGA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	3/12			chr6	TogoVar
CFAP47_chrX_35914734_36390317	35966189	A A	ACTAATAT others(305): Show ACTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATAT TTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTT AAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAA GAAATATTAGCTG	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0001 a0001c0039t0001	a0001c0039t0001g0032 a0001c0039t0001g0032	1	216	0.0046	312	c.141 others(329): Show c.1411-363_1411-362insGATATTAGCTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATT AGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCT GCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35966189	A A	ACTAATAT others(305): Show ACTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGC TAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTA ATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAAT ATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATAT TTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTT AAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAA GAGATATTAGCTG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0041 a0041	a0041c0075 a0041c0075	a0041c0075t0001 a0041c0075t0001	a0041c0075t0001g0135 a0041c0075t0001g0135	1	216	0.0046	312	c.141 others(329): Show c.1411-363_1411-362insGATATTAGCTGCTAATATTTAAGAGATA TTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATT AGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAG CTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCT GCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGC TAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTA ATATTTAAGAGATATTAGCTGCTAATATTTAAGA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35966332	T T	TGCTAATA others(305): Show TGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTG CTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCT AATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAA TATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATA TTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATT TAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTA AGAAATATTAGCA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0034 a0034	a0034c0057 a0034c0057	a0034c0057t0001 a0034c0057t0001	a0034c0057t0001g0177 a0034c0057t0001g0177	1	216	0.0046	312	c.141 others(329): Show c.1411-217_1411-216insTATTAGCTGCTAATATTTAAGAAATATT AGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCT GCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCAGCTAATATTTAAGAAA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP61_chr20_20047532_20365698	20337644	A A	ATGGATAG others(305): Show ATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATAGATGG GTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGAT AGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGG ATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGAT AGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGG ATGGATAGATGGG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0002 a0002c0022t0002	a0002c0022t0002g0049 a0002c0022t0002g0049	1	236	0.0042	312	c.342 others(331): Show c.3423-4184_3423-4183insATAGATGGGTGGGTGGATGGATGGAT GGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGT GGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGG ATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGAT GGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAG ATGGGTGGGTGGATGGATGGATGGATAGATGGGTGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP90_chr5_7825378_7856133	7845926	T T	TGACACTC others(305): Show TGACACTCACATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACAGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01993.hp2 HG00558.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0100 a0001c0001t0002g0099 a0001c0001t0001g0100 a0001c0001t0002g0099	2	420	0.0048	312	c.147 others(329): Show c.147+4948_147+4949insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACTGTGAAACCTCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAATGTGAGTGTC	CFAP90	ENSG00000215217.7	transcript	ENST00000399810.7	protein_coding	1/2			chr5	TogoVar
CFAP97D2_chr13_114174257_114228085	114198732	T T	TGTACGGT others(305): Show TGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCGTACGGTCCC CGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGT GACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGTC CCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTAC GGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTG AGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGG CGCGTCCCCGTGC	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	400	0.0025	312	c.172 others(329): Show c.172-1589_172-1588insGGTCCCCGCTGAGGCGTGACGGCGCGTC CCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTAC GGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTG AGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGG CGCGTCCCCGTGCTTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGT GCTTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCC CCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTAC	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114199409	C C	CGAGGCGT others(305): Show CGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGAC AGTGGGTCCCTGTGTGTTCGGTCCCCGCTGAGGGGTGACGGCGTGTCCCC GTGTGTACGGTCCCCGCTGAGGCGTGACAGCGTGTCCCCGTGGGTACGGT CCCCGCTGAGGGGTGACAGTGGGTCCCTGTGTGTTCGGTCCCCGCTGAGG CGTGACAGCGTGTCCCCGTGGGTACGGTACCCGCCGAGGCGTGACGGCGC GTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACAGTGGGTCCCTGTGTG TTCGGTCCCCGCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	400	0.0025	312	c.172 others(327): Show c.172-892_172-891insCTTACGGTCCCCGCTGAGGGGTGACAGTGG GTCCCTGTGTGTTCGGTCCCCGCTGAGGGGTGACGGCGTGTCCCCGTGTG TACGGTCCCCGCTGAGGCGTGACAGCGTGTCCCCGTGGGTACGGTCCCCG CTGAGGGGTGACAGTGGGTCCCTGTGTGTTCGGTCCCCGCTGAGGCGTGA CAGCGTGTCCCCGTGGGTACGGTACCCGCCGAGGCGTGACGGCGCGTCCC CGTGCTTACGGTCCCCGCTGAGGGGTGACAGTGGGTCCCTGTGTGTTCGG TCCCCGCTGAGGCGTGACGGCGCGTCCCCGTG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114199804	C C	CGTGACGG others(305): Show CGTGACGGGGCGTCCCCGTGTGTACGGTCCCCGCTGAGGCGTGACGGCGC GTCCCCGTGTGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCG TACGGTCCCCGCTGAGGCGTGACGGGGCGTCCCCGTGCGTACGGTCCCCG CTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGA CGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGGGGCGTCCC CGTGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCGTACGG TCCCCGCTGAGGG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA19075.hp2 NA19084.hp1 NA18990.hp1 NA19075.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0226 a0001c0001t0004g0242 a0001c0001t0004g0040 a0001c0001t0004g0226 a0001c0001t0004g0242	3	400	0.0075	312	c.172 others(327): Show c.172-514_172-513insGGCGTCCCCGTGTGTACGGTCCCCGCTGAG GCGTGACGGCGCGTCCCCGTGTGTACGGTCCCCGCTGAGGGGTGACGGCG CGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGGGGCGTCCCCGTGC GTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCC GCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTG ACGGGGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCC CCGTGCGTACGGTCCCCGCTGAGGGGTGACGG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114199804	C C	CGTGACGG others(305): Show CGTGACGGGGCGTCCCCGTGTGTACGGTCCCCGCTGAGGCGTGACGGCGC GTCCCCGTGTGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGTG TACGGTCCCCGCTGAGGCGTGACGGGGCGTCCCCGTGCGTACGGTCCCCG CTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGA CGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGGGGCGTCCC CGTGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCGTACGG TCCCCGCTGAGGG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02155.hp1 NA18942.hp1 others(3): Show HG02129.hp2 HG02155.hp1 NA18942.hp1 NA18967.hp1 NA18975.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0001 a0001c0001t0004g0007 a0001c0001t0013g0104 a0001c0001t0004g0001 a0001c0001t0004g0007 a0001c0001t0013g0104	6	400	0.0150	312	c.172 others(327): Show c.172-514_172-513insGGCGTCCCCGTGTGTACGGTCCCCGCTGAG GCGTGACGGCGCGTCCCCGTGTGTACGGTCCCCGCTGAGGGGTGACGGCG CGTCCCCGTGTGTACGGTCCCCGCTGAGGCGTGACGGGGCGTCCCCGTGC GTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCC GCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTG ACGGGGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCC CCGTGCGTACGGTCCCCGCTGAGGGGTGACGG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114199804	C C	CGTGACGG others(305): Show CGTGACGGGGCGTCCCCGTGTGTACGGTCCCCGCTGAGGCGTGACGGCGC GTCCCCGTGTGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGTG TACGGTCCCCGCTGAGGCGTGACGGGGCGTCCCCGTGCGTACGGTCCCCT CTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGA CGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGGGGCGTCCC CGTGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCGTACGG TCCCCGCTGAGGG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0240 a0001c0001t0004g0240	1	400	0.0025	312	c.172 others(327): Show c.172-514_172-513insGGCGTCCCCGTGTGTACGGTCCCCGCTGAG GCGTGACGGCGCGTCCCCGTGTGTACGGTCCCCGCTGAGGGGTGACGGCG CGTCCCCGTGTGTACGGTCCCCGCTGAGGCGTGACGGGGCGTCCCCGTGC GTACGGTCCCCTCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCC GCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTG ACGGGGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCC CCGTGCGTACGGTCCCCGCTGAGGGGTGACGG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CIP2A_chr3_108544864_108594438	108575619	T T	TGTATATA others(305): Show TGTATATACACGTGTATATATACTCATATACATGTGTATATACACGTGTA TATATACTCATATACATGTGTATATACACGTGTATATATACTCATATACA TGAGTATATACACGTGTATATATACTCATATACATGAGTATATATACACG TGTATATATACTCATATACATGAGTATATATACACGTGTATATATACTCA TATACATGAGTATATACACGTGTATATATACTCATATACATGAGTATATA TACACGTGTATATATACTCATATACATGAGTATATATACACGTGTATATA CTCATATACATGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0294 a0001c0003t0003g0295 a0001c0003t0003g0294 a0001c0003t0003g0295	2	372	0.0054	312	c.894 others(327): Show c.894+651_894+652insTCATGTATATGAGTATATACACGTGTATAT ATACTCATGTATATGAGTATATATACACGTGTATATATACTCATGTATAT GAGTATATATACACGTGTATATACTCATGTATATGAGTATATATACACGT GTATATATACTCATGTATATGAGTATATATACACGTGTATATATACTCAT GTATATGAGTATATATACACGTGTATATACTCATGTATATGAGTATATAT ACACGTGTATATACACATGTATATGAGTATATATACACGTGTATATACAC ATGTATATGAGTATATATACACGTGTATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575687	A A	AGTATATA others(305): Show AGTATATACACGTGTATATATACTCATATACATGAGTATATATACACGTG TATATATACTCATATACATGAGTATATATACACGTGTATATATACTCATA TACATGAGTATATACACGTGTATATATACTCATATACATGAGTATATATA CACGTGTATATATACTCATATACATGAGTATATATACACGTGTATATACT CATATACATGAGTATATACACGTGTATATATACTCATATACATGTGTATA TACACGTGTATATATACTCATATACATGTGTATATACACGTGTATATATA CTCATATACATGT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0296 a0001c0003t0003g0296	1	372	0.0027	312	c.894 others(327): Show c.894+583_894+584insACATGTATATGAGTATATATACACGTGTAT ATACACATGTATATGAGTATATATACACGTGTATATACACATGTATATGA GTATATATACACGTGTATATACTCATGTATATGAGTATATACACGTGTAT ATATACTCATGTATATGAGTATATATACACGTGTATATATACTCATGTAT ATGAGTATATATACACGTGTATATACTCATGTATATGAGTATATATACAC GTGTATATATACTCATGTATATGAGTATATATACACGTGTATATATACTC ATGTATATGAGTATATATACACGTGTATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CMSS1_chr3_99812862_100186732	100091129	C C	CAAAAACT others(305): Show CAAAAACTTAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGG CTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03041.hp2 HG03471.hp2 HG02809.hp2 HG03041.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0009 a0001c0001t0009g0010 a0001c0001t0009g0040 a0001c0001t0009g0009 a0001c0001t0009g0010 a0001c0001t0009g0040	3	232	0.0129	312	c.65- others(329): Show c.65-55833_65-55832insCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAACTTAGC	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT2_chr12_70238433_70359993	70286106	T T	TCATATTT others(305): Show TCATATTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGTGTAGCTGG GACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01928.hp1 NA18977.hp1 NA18997.hp1 HG01928.hp1 NA18977.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007	a0001c0001t0004g0245 a0001c0001t0005g0270 a0001c0001t0007g0264 a0001c0001t0004g0245 a0001c0001t0005g0270 a0001c0001t0007g0264	3	280	0.0107	312	c.48+ others(327): Show c.48+7841_48+7842insTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCT GTGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCCATATTTTC	CNOT2	ENSG00000111596.14	transcript	ENST00000229195.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
COL10A1_chr6_116113909_116131132	116116343	T T	TAAAAATA others(305): Show TAAAAATAACTACTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	312	c.37 others(323): Show c.3729_*3730insTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCAAAAGTAGTTATTTTT	COL10A1	ENSG00000123500.10	transcript	ENST00000651968.1	protein_coding		2565		chr6	TogoVar
COL13A1_chr10_69796906_69964144	69850404	T T	TAAGAGAC others(305): Show TAAGAGACATCAGGAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp1 HG01081.hp1 others(4): Show HG00738.hp1 HG01074.hp1 HG01081.hp1 HG01167.hp2 HG02630.hp2 HG03491.hp2 NA18949.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0021 others(1): Show a0001c0001 a0001c0002 a0001c0021 a0009c0024	a0001c0001t0001 a0001c0002t0001 a0001c0021t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0021t0001 a0009c0024t0001	a0001c0001t0001g0151 a0001c0001t0001g0200 a0001c0001t0001g0201 others(4): Show a0001c0001t0001g0151 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0002t0001g0278 a0001c0002t0001g0317 a0001c0021t0001g0032 a0009c0024t0001g0024	7	324	0.0216	312	c.365 others(331): Show c.365-17379_365-17378insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAGAGACATCAGGAG	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	2/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL23A1_chr5_178232618_178595393	178585563	G G	GGGGGTAA others(305): Show GGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGC CCTGGTTGATGCTGGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGT AATGCCCTACAGCCCTGGTTGATGCTGGGGGTAACACTCCACGTCCCTGG ATGGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTAACACT CCACAGCCCTGGTTGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGC TGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGC CCTGGATGGCGCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01361.hp2 HG03195.hp2 others(5): Show HG00280.hp2 HG01361.hp2 HG03195.hp2 HG03491.hp1 HG03492.hp1 HG04228.hp2 NA18973.hp2 NA18999.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0014	a0001c0001 a0003c0005 a0003c0007 others(2): Show a0001c0001 a0003c0005 a0003c0007 a0004c0006 a0014c0012	a0001c0001t0002 a0003c0005t0002 a0003c0005t0003 others(3): Show a0001c0001t0002 a0003c0005t0002 a0003c0005t0003 a0003c0007t0001 a0004c0006t0004 a0014c0012t0002	a0001c0001t0002g0153 a0003c0005t0002g0163 a0003c0005t0003g0145 others(5): Show a0001c0001t0002g0153 a0003c0005t0002g0163 a0003c0005t0003g0145 a0003c0005t0003g0156 a0003c0007t0001g0137 a0004c0006t0004g0135 a0004c0006t0004g0136 a0014c0012t0002g0162	8	236	0.0339	312	c.294 others(329): Show c.294+4340_294+4341insAGCGCCATCCAGGGCTGTAGGGCGTTAC CCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCT GTAGGGCATTACCCCAGCGCCAACCAGGGCTGTGGAGTGTTACCCCAGCG CCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGACGTGGAGT GTTACCCCCAGCATCAACCAGGGCTGTAGGGCATTACCCCAGCGCCATCC AGGGCTGTGGAGTGTTACCCCCAGCATCAACCAGGGCTGTAGGGCATTAC CCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178585576	C C	CACAGCCC others(305): Show CACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGTTGATGCT GGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGC CCTGGTTGATGCTGGGGGTAACACTCCACGTCCCTGGATGGCGCTGGGGT AACACTCCACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGT TGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCC TACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCT GGGGTAATGCCCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0224 a0001c0001t0014g0224	1	236	0.0042	312	c.294 others(329): Show c.294+4327_294+4328insAGGGCATTACCCCAGCGCCATCCAGGGC TGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGC GCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCAACCAGGGCTGTGGAG TGTTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCC AGGGACGTGGAGTGTTACCCCCAGCATCAACCAGGGCTGTAGGGCATTAC CCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCCAGCATCAACCAGGGC TGTAGGGCATTACCCCAGCGCCATCCAGGGCTGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL25A1_chr4_108803725_109307658	109000840	T T	TAAAGACT others(305): Show TAAAGACTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01175.hp2 HG01258.hp1 others(2): Show HG01167.hp2 HG01175.hp2 HG01258.hp1 HG01361.hp2 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0027 a0001c0002t0008	a0001c0001t0001g0079 a0001c0001t0002g0113 a0001c0001t0003g0018 others(2): Show a0001c0001t0001g0079 a0001c0001t0002g0113 a0001c0001t0003g0018 a0001c0001t0027g0086 a0001c0002t0008g0087	5	130	0.0385	312	c.438 others(329): Show c.438+9517_438+9518insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCGAGAAGTCTTT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	6/37			chr4	TogoVar
COL3A1_chr2_188969373_189017746	188989139	T T	TAATATTC others(305): Show TAATATTCCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCACTGCACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	376	0.0027	312	c.637 others(327): Show c.637-247_637-246insGGCCGGGCGCGGTGGCTCACGCCTGTAATC TCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCACTGCACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAATATTCCTA	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	7/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A2_chr13_110302284_110518209	110385747	G G	GTGGATAG others(305): Show GTGGATAGACCGTGGTTACAGTGTGTGGATAGACCGTGGCTGCAGTGTGT GGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTGG ATAGGCCGTGGCTGCAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGAT AGACCGTGGTTACAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAG GCCGTGGCTGCAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGAC CGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGACCG TGGCTACAGTGCC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02523.hp2 HG02080.hp1 HG02523.hp2	a0001 a0017 a0001 a0017	a0001c0001 a0017c0086 a0001c0001 a0017c0086	a0001c0001t0004 a0017c0086t0003 a0001c0001t0004 a0017c0086t0003	a0001c0001t0004g0290 a0017c0086t0003g0057 a0001c0001t0004g0290 a0017c0086t0003g0057	2	372	0.0054	312	c.180 others(331): Show c.180+28202_180+28203insACCGTGGTTACAGTGTGTGGATAGAC CGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCG TGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGACCGTG GCTGCAGTGTGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGC TGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGACCGTGGCTG CAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACA GCGTGTGGATAGACCGTGGCTACAGTGCCTGGATAG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385747	G G	GTGGATAG others(305): Show GTGGATAGACCGTGGTTACAGTGTGTGGATAGACCGTGGCTGCAGTGTGT GGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTGG ATAGGCCGTGGCTGCAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGAT AGACCGTGGTTACAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAG GCCGTGGCTGCAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGAC CGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGACCG TGGTTACAGTGCC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG01099.hp1 others(42): Show HG00609.hp1 HG00609.hp2 HG01099.hp1 HG01496.hp1 HG02004.hp2 HG02015.hp1 HG02132.hp2 HG02135.hp2 HG02630.hp1 HG02698.hp1 HG03017.hp1 HG03516.hp1 HG03654.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG04199.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18961.hp1 NA18975.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18992.hp1 NA19001.hp2 NA19002.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19081.hp2 NA19084.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0007 a0023 a0025 a0031 a0035	a0001c0001 a0001c0002 a0001c0003 others(26): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0014 a0001c0015 a0001c0023 a0001c0024 a0002c0007 a0002c0013 a0002c0062 a0002c0093 a0002c0117 a0003c0025 a0004c0009 a0004c0012 a0004c0030 a0004c0058 a0004c0090 a0004c0091 a0005c0027 a0007c0026 a0007c0080 a0023c0107 a0025c0113 a0031c0095 a0035c0083	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(39): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0003t0003 a0001c0003t0017 a0001c0004t0003 a0001c0004t0004 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0008t0001 a0001c0008t0004 a0001c0008t0007 a0001c0014t0001 a0001c0015t0001 a0001c0015t0003 a0001c0023t0002 a0001c0023t0003 a0001c0024t0001 a0001c0024t0002 a0002c0007t0006 a0002c0013t0005 a0002c0013t0006 a0002c0062t0047 a0002c0093t0001 a0002c0117t0033 a0003c0025t0001 a0004c0009t0001 a0004c0012t0004 a0004c0030t0001 a0004c0058t0001 a0004c0090t0005 a0004c0091t0001 a0005c0027t0041 a0007c0026t0007 a0007c0080t0012 a0023c0107t0002 a0025c0113t0001 a0031c0095t0040 a0035c0083t0001	a0001c0001t0001g0190 a0001c0001t0001g0363 a0001c0001t0003g0092 others(42): Show a0001c0001t0001g0190 a0001c0001t0001g0363 a0001c0001t0003g0092 a0001c0001t0005g0192 a0001c0002t0001g0243 a0001c0002t0002g0308 a0001c0003t0003g0089 a0001c0003t0017g0178 a0001c0004t0003g0059 a0001c0004t0004g0291 a0001c0005t0001g0182 a0001c0005t0001g0249 a0001c0005t0002g0337 a0001c0005t0003g0103 a0001c0008t0001g0108 a0001c0008t0001g0202 a0001c0008t0004g0285 a0001c0008t0007g0214 a0001c0014t0001g0194 a0001c0015t0001g0198 a0001c0015t0003g0086 a0001c0023t0002g0345 a0001c0023t0003g0060 a0001c0024t0001g0201 a0001c0024t0002g0339 a0002c0007t0006g0070 a0002c0013t0005g0188 a0002c0013t0006g0118 a0002c0062t0047g0298 a0002c0093t0001g0256 a0002c0117t0033g0174 a0003c0025t0001g0112 a0004c0009t0001g0244 a0004c0012t0004g0307 a0004c0030t0001g0179 a0004c0058t0001g0183 a0004c0090t0005g0253 a0004c0091t0001g0200 a0005c0027t0041g0072 a0007c0026t0007g0177 a0007c0080t0012g0335 a0023c0107t0002g0342 a0025c0113t0001g0211 a0031c0095t0040g0050 a0035c0083t0001g0189	45	372	0.1210	312	c.180 others(331): Show c.180+28202_180+28203insACCGTGGTTACAGTGTGTGGATAGAC CGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCG TGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGACCGTG GCTGCAGTGTGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGC TGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGACCGTGGCTG CAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACA GCGTGTGGATAGACCGTGGTTACAGTGCCTGGATAG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385747	G G	GTGGATAG others(305): Show GTGGATAGACCGTGGTTACAGTGTGTGGATAGACCGTGGCTGCAGTGTGT GGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTGG ATAGGCCGTGGCTGCAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGAT AGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAG GCCGTGGCTGCAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGAC CGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGACCG TGGTTACAGTGCC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01074.hp2 others(1): Show HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01981.hp2	a0008 a0010 a0008 a0010	a0008c0022 a0010c0041 a0008c0022 a0010c0041	a0008c0022t0001 a0008c0022t0002 a0010c0041t0002 a0008c0022t0001 a0008c0022t0002 a0010c0041t0002	a0008c0022t0001g0262 a0008c0022t0002g0312 a0010c0041t0002g0313 others(1): Show a0008c0022t0001g0262 a0008c0022t0002g0312 a0010c0041t0002g0313 a0010c0041t0002g0314	4	372	0.0108	312	c.180 others(331): Show c.180+28202_180+28203insACCGTGGTTACAGTGTGTGGATAGAC CGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCG TGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGACCGTG GCTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGC TGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGACCGTGGCTG CAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACA GCGTGTGGATAGACCGTGGTTACAGTGCCTGGATAG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385816	T T	TGTGTGGA others(305): Show TGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTG TGTGGATAGACCGTGGCTGCAGTGTGTGGATAGACCGTGGTTACAGTGTG TGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTG GATAGACCGTGGCTGCAGTGTGTGGATAGACCGTGGCTGCAGCGTGTGGA TAGACCGTGGTTACAGTGCCTGGATAGGCCGTGGTTACAGTGTGTGGATA GGCCGTGGTTACAGTGTGTGGATAGACCGTGGTTACAGCGTGTGGATAGG CCGTGGTTACAGC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0039 a0003c0039	a0003c0039t0001 a0003c0039t0001	a0003c0039t0001g0203 a0003c0039t0001g0203	1	372	0.0027	312	c.180 others(331): Show c.180+28283_180+28284insGCAGTGTGTGGATAGGCCGTGGCTGC AGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGACCGTGGTTACAG TGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGCTGCAGTG TGTGGATAGACCGTGGCTGCAGTGTGTGGATAGACCGTGGCTGCAGCGTG TGGATAGACCGTGGTTACAGTGCCTGGATAGGCCGTGGTTACAGTGTGTG GATAGGCCGTGGTTACAGTGTGTGGATAGACCGTGGTTACAGCGTGTGGA TAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385816	T T	TGTGTGGA others(305): Show TGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTG TGTGGATAGACCGTGGCTGCAGTGTGTGGATAGACCGTGGTTACAGTGTG TGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTG GATAGACCGTGGCTGCAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGA TAGGCCGTGGTTACAGCGTGTGGATAGACCGTGGTTACAGTGCCTGGATA GGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGA CCGTGGTTACAGC	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0269 a0001c0015t0002g0269	1	372	0.0027	312	c.180 others(331): Show c.180+28283_180+28284insGCAGTGTGTGGATAGGCCGTGGCTGC AGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGACCGTGGTTACAG TGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGCTGCAGTG TGTGGATAGACCGTGGCTGCAGTGTGTGGATAGACCGTGGCTGCAGTGTG TGGATAGGCCGTGGTTACAGCGTGTGGATAGACCGTGGTTACAGTGCCTG GATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGCGTGTGGA TAGACCGTGGTTACAGCGTGTGGATAGGCCGTGGTT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385816	T T	TGTGTGGA others(305): Show TGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTG TGTGGATAGACCGTGGCTGCAGTGTGTGGATAGACCGTGGTTACAGTGTG TGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTG GATAGACCGTGGCTGCAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGA TAGGCCGTGGTTACAGCGTGTGGATAGACCGTGGTTACAGTGCCTGGATA GGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGA CCGTGGTTACAGC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0003 a0001c0015t0003	a0001c0015t0003g0093 a0001c0015t0003g0093	1	372	0.0027	312	c.180 others(331): Show c.180+28283_180+28284insGCAGTGTGTGGATAGGCCGTGGCTGC AGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGACCGTGGTTACAG TGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGCTGCAGTG TGTGGATAGACCGTGGCTGCAGTGTGTGGATAGACCGTGGCTGCAGTGTG TGGATAGGCCGTGGTTACAGCGTGTGGATAGACCGTGGTTACAGTGCCTG GATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGA TAGACCGTGGTTACAGCGTGTGGATAGGCCGTGGTT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385816	T T	TGTGTGGA others(305): Show TGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTG TGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTG TGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTG GATAGACCGTGGCTGCAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGA TAGGCCGTGGTTACAGCGTGTGGATAGACCGTGGTTACAGTGCCTGGATA GGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGA CCGTGGTTACAGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0005 a0001c0036t0005	a0001c0036t0005g0185 a0001c0036t0005g0185	1	372	0.0027	312	c.180 others(331): Show c.180+28283_180+28284insGCAGTGTGTGGATAGGCCGTGGCTGC AGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAG TGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGCTGCAGTG TGTGGATAGACCGTGGCTGCAGTGTGTGGATAGACCGTGGCTGCAGTGTG TGGATAGGCCGTGGTTACAGCGTGTGGATAGACCGTGGTTACAGTGCCTG GATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGA TAGACCGTGGTTACAGCGTGTGGATAGGCCGTGGTT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385827	G G	GCCGTGGT others(305): Show GCCGTGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGAC CGTGGCTGCAGTGTGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCG TGGCTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGACCGTG GCTGCAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGT TACAGCGTGTGGATAGACCGTGGTTACAGTGCCTGGATAGGCCGTGGTTA CAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGACCGTGGTTACA GCGTGTGGATAGA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03704.hp1 NA18612.hp1 others(3): Show HG02040.hp2 HG03704.hp1 NA18612.hp1 NA19007.hp2 NA19011.hp1 NA19074.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0015 others(2): Show a0001c0001 a0001c0003 a0001c0015 a0002c0100 a0004c0009	a0001c0001t0003 a0001c0003t0001 a0001c0015t0001 others(2): Show a0001c0001t0003 a0001c0003t0001 a0001c0015t0001 a0002c0100t0001 a0004c0009t0003	a0001c0001t0003g0091 a0001c0003t0001g0165 a0001c0015t0001g0227 others(3): Show a0001c0001t0003g0091 a0001c0003t0001g0165 a0001c0015t0001g0227 a0002c0100t0001g0230 a0004c0009t0003g0062 a0004c0009t0003g0078	6	372	0.0161	312	c.180 others(331): Show c.180+28283_180+28284insGCAGTGTGTGGATAGGCCGTGGCTGC AGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGACCGTGGTTACAG TGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGCTGCAGTG TGTGGATAGACCGTGGCTGCAGTGTGTGGATAGACCGTGGCTGCAGTGTG TGGATAGGCCGTGGTTACAGCGTGTGGATAGACCGTGGTTACAGTGCCTG GATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGA TAGACCGTGGTTACAGCGTGTGGATAGACCGTGGTT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385829	C C	CGTGGTTG others(305): Show CGTGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGACCG TGGCTGCAGTGTGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTG GCTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGACCGTGGC TGCAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTA CAGCGTGTGGATAGACCGTGGTTACAGTGCCTGGATAGGCCGTGGTTACA GTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGACCGTGGTTACAGC GTGTGGATAGGCG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0006 a0002c0019t0006	a0002c0019t0006g0131 a0002c0019t0006g0131	1	372	0.0027	312	c.180 others(331): Show c.180+28283_180+28284insGCAGTGTGTGGATAGGCCGTGGCTGC AGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGACCGTGGTTACAG TGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGCTGCAGTG TGTGGATAGACCGTGGCTGCAGTGTGTGGATAGACCGTGGCTGCAGTGTG TGGATAGGCCGTGGTTACAGCGTGTGGATAGACCGTGGTTACAGTGCCTG GATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGA TAGACCGTGGTTACAGCGTGTGGATAGGCGGTGGTT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385858	T T	TTACAGTG others(305): Show TTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTT ACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTAC AGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGCTGCAGTG TGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGTGTG TGGATGGACCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGCGTGTG GATAGGCCGTGGC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02976.hp1 HG00738.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0010 a0001c0014t0026 a0001c0001t0010 a0001c0014t0026	a0001c0001t0010g0035 a0001c0014t0026g0156 a0001c0001t0010g0035 a0001c0014t0026g0156	2	372	0.0054	312	c.180 others(331): Show c.180+28307_180+28308insACAGTGTGTGGATAGGCCGTGGTTAC AGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTG TGTGGATAGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGTGTG TGGATGGGCCGTGGCTGCAGTGTGTGGATGGGCCGTGGTTACAGTGTGTG GATGGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGA TGGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGCT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar

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