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
CBL_chr11_119201339_119313149	119222686	T T	TTTGTTTT others(301): Show TTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGCCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0015	a0001c0004t0015g0019 a0001c0004t0015g0019	1	360	0.0028	308	c.196 others(325): Show c.196-9753_196-9752insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGCCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTTGTTTTTT	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(301): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCC CCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCA CCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	18	0.0556	308	c.-22 others(319): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG AAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC6_chr10_59783747_59911556	59882279	G G	GCCGGGGG others(301): Show GCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCG GGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGA AGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGA AAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGG AAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAG CCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGG AGAAGGAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18963.hp2 NA19079.hp1 HG00673.hp1 NA18963.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136	3	271	0.0111	308	c.303 others(327): Show c.303+23842_303+23843insTTTCCTTCTCCCCCCGGCTTTCCTTT CCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCC CCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCGCC GGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCT TTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTT TCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTC TCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGG	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC6_chr10_59783747_59911556	59882279	G G	GCCGGGGG others(301): Show GCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCG GCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGA GAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAG GAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGG AAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCC GGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCAGGGGG AGAAGGAAA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	269	0.0037	308	c.303 others(327): Show c.303+23842_303+23843insTTTCCTTCTCCCCCTGGCTTTCCTTT CCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCT CCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCC GGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTT CCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTT TCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTC TCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGG	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC88C_chr14_91266323_91422820	91293463	C C	CATCCTCA others(301): Show CATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCTCA CCTTCCCATCCTCACCCGCCAGAGCTCACCTTCCCATCCTCACCTGCCAC AGCTCACCTTCCCATCCTCACCCGCCAGAGCTCACCTTCCCATCCTCACG TGCCACAGCTCACCTTCCCATCCTCACCCACAACAGCTCACCTTCCCATC CTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTT CCCATCCTCACCTGCCACAGCTCACCTTCCCATTCTCACCTGCCACAGCT CACCTTCCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0236 a0001c0006t0001g0236	1	282	0.0035	308	c.411 others(325): Show c.4112+709_4112+710insAGGAAGGTGAGCTGTGGCAGGTGAGAAT GGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCGGGT GAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTT GTGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGA GCTCTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGA AGGTGAGCTCTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGG ATGGGAAGGTGAGCTGTGGCACGTGAGGAT	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCSER2_chr10_84323589_84523517	84501838	T T	TATATATA others(301): Show TATATATATATATATATATATATATATATATATATATACACTCATATATA TATATATACTCATATATATATATATATACTCATATATATATATATATATA CTCATATATATATATACTCATATATATATATATATACTCATATATATATA TACTCATATATATATATATACTCATATATATATATACTCATATATATATA TACTCATATATATATATATACTCATATATATATATATACTCATATATATA TATACTCATATATATATATATATATATATACTCATATATATATATATATA TATATACTC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0136 a0002c0002t0003g0136	1	290	0.0034	308	c.232 others(329): Show c.2326-11590_2326-11589insTATATATATATATATACACTCATA TATATATATATACTCATATATATATATATATACTCATATATATATATATA TATACTCATATATATATATACTCATATATATATATATATACTCATATATA TATATACTCATATATATATATATACTCATATATATATATACTCATATATA TATATACTCATATATATATATATACTCATATATATATATATACTCATATA TATATATACTCATATATATATATATATATATATACTCATATATATATATA TATATATATACTCATATATATATATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CD300E_chr17_74604885_74628738	74624067	T T	TAAAACAC others(301): Show TAAAACACCCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCG GGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGCCTCAAAAAAAA AAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01361.hp2 HG01515.hp2 others(24): Show HG01192.hp2 HG01361.hp2 HG01515.hp2 HG01928.hp2 HG02027.hp1 HG02293.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02683.hp2 HG03017.hp2 HG03453.hp1 HG03516.hp1 HG03710.hp2 HG04115.hp2 NA18939.hp1 NA18961.hp1 NA18977.hp1 NA18987.hp2 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA19010.hp1 NA19012.hp1 NA19066.hp1 NA19086.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0002c0009	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0002c0002t0010 a0002c0004t0003 a0002c0004t0004 a0002c0004t0005 a0002c0009t0001	a0001c0001t0001g0016 a0001c0001t0001g0053 a0001c0001t0001g0127 others(15): Show a0001c0001t0001g0016 a0001c0001t0001g0053 a0001c0001t0001g0127 a0001c0001t0002g0171 a0002c0002t0001g0002 a0002c0002t0001g0170 a0002c0002t0002g0005 a0002c0002t0002g0129 a0002c0002t0002g0156 a0002c0002t0002g0160 a0002c0002t0002g0185 a0002c0002t0009g0017 a0002c0002t0010g0157 a0002c0004t0003g0130 a0002c0004t0004g0006 a0002c0004t0004g0055 a0002c0004t0005g0168 a0002c0009t0001g0050	27	298	0.0906	308	c.-44 others(317): Show c.-447_-446insTTTTTTTTTTTTTTTTTGAGGCGGAGTTTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGA CTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCGAGGGTGTTTT	CD300E	ENSG00000186407.7	transcript	ENST00000392619.2	protein_coding		330		chr17	TogoVar
CD3G_chr11_118339344_118360161	118355930	C C	CACACATA others(301): Show CACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACG CATACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTG TATACGCATACACACACATATGTGTGTGTATACGCATACACACATATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACA CATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCA TACACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG TATACGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG02895.hp2 HG02897.hp2 HG01074.hp2 HG02895.hp2 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0029 a0002c0002t0013 a0002c0002t0029	a0002c0002t0013g0033 a0002c0002t0013g0034 a0002c0002t0029g0034 a0002c0002t0013g0033 a0002c0002t0013g0034 a0002c0002t0029g0034	3	355	0.0085	308	c.28 others(319): Show c.2830_*2831insACACATATGTGTGTGTATACGCATACACACACAT ATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACAC ACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGC ATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGT ATACGCATACACACACATATATGTGTGTGTATACGCATACACACATATAT GTGTGTGTATACGCATACACACACATATATGTGTGTGTATACGCATACAC ACATATATGTGTGTGTATACGCAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		770		chr11	TogoVar
CDC14A_chr1_100347506_100525277	100473048	T T	TTCTTTTC others(301): Show TTCTTTTCCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGC CCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAGGCTCCGCCCC CTGGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCTGCCTCGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG02109.hp1 HG02258.hp2	a0001 a0001	a0001c0004 a0001c0012 a0001c0004 a0001c0012	a0001c0004t0010 a0001c0012t0007 a0001c0004t0010 a0001c0012t0007	a0001c0004t0010g0065 a0001c0012t0007g0164 a0001c0004t0010g0065 a0001c0012t0007g0164	2	293	0.0068	308	c.977 others(325): Show c.977+4966_977+4967insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAGG CTCCGCCCCCTGGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGAATTACAGGCGT GAGCCACCGCGCCCGGCCTCTTTTCCTTTT	CDC14A	ENSG00000079335.20	transcript	ENST00000336454.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDKAL1_chr6_20529457_21237404	21205830	C C	CTTTTTTT others(301): Show CTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACCACAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GAGCCCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGG GGTTTCACTGTGTTAGCCAGGATGATCTCGATCTCCTGACCTCGTGATCT GCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCCCCGCG CCCAGCCTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0033 a0001c0005t0004g0033	1	82	0.0122	308	c.154 others(327): Show c.1548+4578_1548+4579insTTGAGACAGAGTCTTGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACCACAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGAGCCCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACG GGGTTTCACTGTGTTAGCCAGGATGATCTCGATCTCCTGACCTCGTGATC TGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCCCCGC GCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(301): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0014 a0014	a0014c0032 a0014c0032	a0014c0032t0036 a0014c0032t0036	a0014c0032t0036g0323 a0014c0032t0036g0323	1	66	0.0152	308	c.-25 others(319): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATAAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CEBPZOS_chr2_37191496_37209743	37207505	C C	CAAAACTA others(301): Show CAAAACTATATACAACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	464	0.0022	308	c.56 others(319): Show c.5645_*5646insAAAACTATATACAACTTTGGGAGGCCGAGGCGGG CGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAAC CCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGC CTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC GGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCT GGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAA	CEBPZOS	ENSG00000218739.10	transcript	ENST00000402297.6	protein_coding		2763		chr2	TogoVar
CEBPZ_chr2_37196612_37236596	37207505	C C	CAAAACTA others(301): Show CAAAACTATATACAACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	436	0.0023	308	c.288 others(327): Show c.2884+3493_2884+3494insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTTGTATATAGTTTT	CEBPZ	ENSG00000115816.15	transcript	ENST00000234170.10	protein_coding	13/15			chr2	TogoVar
CENPH_chr5_69184583_69215357	69204022	T T	TATATAAA others(301): Show TATATAAATATATATAATATATAAATATATATAATTTCTATATATATTAT ATATAGAATATATATATAGAATATATATATATAGAATATATATATAGAAT ATATATATATAGAATATATATATATAGAATATATATATATAGAATATATA TATATAGAATATATATATATAGAATATATATATATAGAATATATATATAT AGAATATATATATATAGAATATATATATATAGAATATATATATATAGAAT ATATATATATAGAATATATATATATAGAATATATATATATAGAATATATA TATATAGAA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	146	0.0068	308	c.487 others(325): Show c.487+1052_487+1053insATATAAATATATATAATATATAAATATA TATAATTTCTATATATATTATATATAGAATATATATATAGAATATATATA TATAGAATATATATATAGAATATATATATATAGAATATATATATATAGAA TATATATATATAGAATATATATATATAGAATATATATATATAGAATATAT ATATATAGAATATATATATATAGAATATATATATATAGAATATATATATA TAGAATATATATATATAGAATATATATATATAGAATATATATATATAGAA TATATATATATAGAATATATATATATAGAA	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPJ_chr13_24877279_24927861	24881896	C C	CTATATAG others(301): Show CTATATAGATATATAATCTATATAGATATATAATCTATATAGATATATAG ATACATCTATATAGATATATAGATACATCTATATAGATATATAGATACAT CTATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0252 a0001c0004t0001g0252	1	428	0.0023	308	c.12 others(319): Show c.1280_*1281insTAGATGTATCTATATATAGATGTATCTATATATA GATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG TATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTA TCTATATATAGATGTATCTATATAGATGTATCTATATATCTATATAGATG TATCTATATATCTATATAGATGTATCTATATATCTATATAGATTATATAT CTATATAGATTATATATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		382		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881962	C C	CTATATAG others(301): Show CTATATAGATATATAGATACATCTAGATATATAGATACATCTAGATAGAT ATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA20905.hp2 NA18984.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0025 a0001c0001t0002g0010 a0001c0001t0002g0025	2	201	0.0100	308	c.12 others(319): Show c.1214_*1215insTCTAGATGTATCTATATATCTATCTAGATGTATC TATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATA TCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATC TAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATG TATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTA TATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATC TAGATGTATCTATATATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		316		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881962	C C	CTATATAG others(301): Show CTATATAGATATATAGATACATCTAGATATATAGATACATCTAGATAGAT ATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTATATAGATATATAGAT ACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	200	0.0050	308	c.12 others(319): Show c.1214_*1215insTCTAGATGTATCTATATATCTATATAGATGTATC TATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATA TCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATC TAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATG TATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTA TATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATC TAGATGTATCTATATATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		316		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881962	C C	CTATATAG others(301): Show CTATATAGATATATAGATACATCTAGATATATAGATACATCTAGATAGAT ATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTATATAGATATATAGAT ACATCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	200	0.0050	308	c.12 others(319): Show c.1214_*1215insTATAGATGTATCTATATATCTATATAGATGTATC TATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATA TCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATC TAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATG TATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTA TATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATC TAGATGTATCTATATATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		316		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881962	C C	CTATATAG others(301): Show CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTAGAT ATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTATATAGATATATAGATACATCTATATAGATAT ATAGATACATCTATATAGATATATAGATACATCTATATAGATATATAGAT ACATCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	200	0.0050	308	c.12 others(319): Show c.1214_*1215insTATAGATGTATCTATATATCTATATAGATGTATC TATATATCTATATAGATGTATCTATATATCTATATAGATGTATCTATATA TCTATATAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATC TAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATG TATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTA TATATCTATCTAGATGTATCTATATATCTAGATGTATCTATATATCTATA TAGATGTATCTATATATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		316		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881962	C C	CTATATAG others(301): Show CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATAT AGATATATAGATACATCTATATAGATATATAGATACATCTAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTATATAGATATATAGAT ACATCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	200	0.0050	308	c.12 others(319): Show c.1214_*1215insTATAGATGTATCTATATATCTATATAGATGTATC TATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATA TCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATC TAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATG TATCTATATATCTATCTAGATGTATCTATATATCTAGATGTATCTATATA TCTATATAGATGTATCTATATATCTATATAGATGTATCTATATATCTATA TAGATGTATCTATATATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		316		chr13	TogoVar
CEP170B_chr14_104860268_104901747	104884909	T T	TGATGCCG others(301): Show TGATGCCGGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAACGGGGGGGTGG AGGTGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAACGGGGGGTG GAGGTGATGCCGGGGGTGGCGAGTGAGAGCACTCGTGGGGAACGGGGGGT GGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAATCGGGGG TGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCACTCGTGGGGAACGGGGG GTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAATCGGG GGTGGAGGC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0252 a0001c0008t0003g0252	1	291	0.0034	308	c.177 others(325): Show c.1770+371_1770+372insGTGGCGAGTGAGAGCCCTCGTGGGGAAC GGGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGA ACGGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCACTCGTGGGG AACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGG GAATCGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCACTCGTGG GGAACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTG GGGAATCGGGGGTGGAGGCGATGCCGGGGG	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CHN1_chr2_174793809_175010381	174871204	T T	TAAAGAGG others(301): Show TAAAGAGGAGCATCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18965.hp2 NA18995.hp1 others(2): Show NA18943.hp1 NA18965.hp2 NA18995.hp1 NA19000.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 others(2): Show a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020	5	184	0.0272	308	c.549 others(325): Show c.549+6635_549+6636insTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCGATGCTCCTCTTT	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	6/12			chr2	TogoVar
CHRNA4_chr20_63338223_63366349	63354193	T T	TGGGGGAG others(301): Show TGGGGGAGCTGTGGTCCTGGGGGGCTGTGGTCCTAGGGGGCTGTGGTCCT AAATGGGGCTGTGGTCCTGGGGGGCTGTGGTCCTGGGGGGCTGTGGTCCT AGGGGGCTGTGGTCCTGGGGGGGAGCTGCTGTCCTAGGGGTGTTGTAGTC CTAGGGGGCTGTGGTCAGGCAAGAACTGTGATCCTTGTGGGGGCTGCAGT TCTGCAGGAAGCACTGTAGCCCTAGGGTGGGATGAAGTCCTGGGAGGACT GTGGTCCTGGCAGGGAATGTGGTCCTGGGGGCCTGTGGTCCTGGGGGGCT GTGGTCCTG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0083 a0001c0001t0008g0083	1	166	0.0060	308	c.383 others(325): Show c.383+1781_383+1782insCAGGACCACAGCCCCCCAGGACCACAGG CCCCCAGGACCACATTCCCTGCCAGGACCACAGTCCTCCCAGGACTTCAT CCCACCCTAGGGCTACAGTGCTTCCTGCAGAACTGCAGCCCCCACAAGGA TCACAGTTCTTGCCTGACCACAGCCCCCTAGGACTACAACACCCCTAGGA CAGCAGCTCCCCCCCAGGACCACAGCCCCCTAGGACCACAGCCCCCCAGG ACCACAGCCCCCCAGGACCACAGCCCCATTTAGGACCACAGCCCCCTAGG ACCACAGCCCCCCAGGACCACAGCTCCCCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	4/5			chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63354345	A A	AGGGGGCT others(301): Show AGGGGGCTGTGGTCAGGCAAGAACTGTGATCCTTGTGGGGGCTGCAGTTC TGCAGGAGGCACTGTAGCCCTAGGGTGGGATGAAGTCCTGGGAGGACTGT GGTCCTGGCAGGGAATGTGGTCCTGGGGGCCTGTGGTCCTGGGGGGCTGT GGTCCTGGGGGGGCTGTGGTCCTGGGGGGCTGTGGTCCTAGGGGGCTGTG GTCCTAAATGGGGCTGTGGTCCTGGGGGGCTGTGGTCCTGGGGGGCTGTG GTCCTAGGGGGCTGTGGTCCTGGGGGGGAGCTGCTGTCCTAGGGGTGTTG TAGTCCTAG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0051 a0001c0003t0002g0051	1	166	0.0060	308	c.383 others(325): Show c.383+1629_383+1630insCTAGGACTACAACACCCCTAGGACAGCA GCTCCCCCCCAGGACCACAGCCCCCTAGGACCACAGCCCCCCAGGACCAC AGCCCCCCAGGACCACAGCCCCATTTAGGACCACAGCCCCCTAGGACCAC AGCCCCCCAGGACCACAGCCCCCCCAGGACCACAGCCCCCCAGGACCACA GGCCCCCAGGACCACATTCCCTGCCAGGACCACAGTCCTCCCAGGACTTC ATCCCACCCTAGGGCTACAGTGCCTCCTGCAGAACTGCAGCCCCCACAAG GATCACAGTTCTTGCCTGACCACAGCCCCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	4/5			chr20	TogoVar
CNBD1_chr8_86861415_87387859	87136885	T T	TTTATATT others(301): Show TTTATATTAAATATAAATATATATATTTATATTAAATATAAATATATATA TTTATATATAATTATATATTATATTATATATATATAATTTATATATAATT ATATATAATTATATATATATATTTATATATAATTTATATATTATATATAT ATATATATATATATATAAATATATATATATAAAATATATAATATAAATAT ATATATATATATATAAATAATATATATAATATAAATATAAATATATAAAT ATATATATATATATTTATATATAAATTATATATTATATTTATATTCTATA TAAATTATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0111 a0001c0001t0003g0111	1	133	0.0075	308	c.432 others(327): Show c.432-69107_432-69106insTATATTAAATATAAATATATATATTT ATATTAAATATAAATATATATATTTATATATAATTATATATTATATTATA TATATATAATTTATATATAATTATATATAATTATATATATATATTTATAT ATAATTTATATATTATATATATATATATATATATATATAAATATATATAT ATAAAATATATAATATAAATATATATATATATATATAAATAATATATATA ATATAAATATAAATATATAAATATATATATATATATTTATATATAAATTA TATATTATATTTATATTCTATATAAATTATAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL21A1_chr6_56051590_56252580	56098422	A A	AATATATA others(301): Show AATATATATATAAATATATATAAATATATAAATATATATAAATATATATA AATATATAAATATATATATAAATATATATAAATATATAAATATATATATA AATATATATAAATATATAAATATATATATAAATATATATAAATATATAAA TATATATGTAAATATATAAATATATAAATATATATGTAAATATATAAATA TATATAAATATATATATAAATATATATAAATATATAAATATATATAAATA CATATGTAAATATATAAATATATATAAATATATAAATATATATAGATATA TATGTAAAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0243 a0001c0001t0001g0244	2	94	0.0213	308	c.181 others(327): Show c.1812+3049_1812+3050insATTTACATATATATCTATATATATTT ATATATTTATATATATTTATATATTTACATATGTATTTATATATATTTAT ATATTTATATATATTTATATATATATTTATATATATTTATATATTTACAT ATATATTTATATATTTATATATTTACATATATATTTATATATTTATATAT ATTTATATATATATTTATATATTTATATATATTTATATATATATTTATAT ATTTATATATATTTATATATATATTTATATATTTATATATATTTATATAT ATTTATATATTTATATATATTTATATATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098440	A A	AATATATA others(301): Show AATATATAAATATATATATAAATATATATAAATATATAAATATATATATA AATATATATAAATATATAAATATATATATAAATATATATAAATATATAAA TATATATATAAATATATATAAATATATAAATATATATGTAAATATATAAA TATATAAATATATATGTAAATATATAAATATATATAAATATATATATAAA TATATATAAATATATAAATATATATAAATACATATGTAAATATATAAATA TATATAAATATATAAATATATATAGATATATATGTAAATATATATAAATA TATATAGAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp2 HG02809.hp2 others(4): Show HG02647.hp1 HG02647.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG03209.hp2 NA18965.hp1	a0001 a0004 a0012 a0001 a0004 a0012	a0001c0001 a0004c0004 a0012c0019 a0001c0001 a0004c0004 a0012c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0004c0004t0017 a0012c0019t0006	a0001c0001t0001g0130 a0001c0001t0003g0029 a0001c0001t0003g0081 others(4): Show a0001c0001t0001g0130 a0001c0001t0003g0029 a0001c0001t0003g0081 a0001c0001t0006g0018 a0001c0001t0006g0019 a0004c0004t0017g0006 a0012c0019t0006g0024	7	126	0.0556	308	c.181 others(327): Show c.1812+3031_1812+3032insATCTATATATATTTATATATATTTAC ATATATATCTATATATATTTATATATTTATATATATTTATATATTTACAT ATGTATTTATATATATTTATATATTTATATATATTTATATATATATTTAT ATATATTTATATATTTACATATATATTTATATATTTATATATTTACATAT ATATTTATATATTTATATATATTTATATATATATTTATATATTTATATAT ATTTATATATATATTTATATATTTATATATATTTATATATATATTTATAT ATTTATATATATTTATATATATATTTATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GGGGAAGG others(301): Show GGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCA GGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGG GGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGG GGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGA AGGCAGGAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0033 a0004c0005t0001g0033	1	171	0.0058	308	c.85- others(325): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTC CCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTT CCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCC CCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTC CTGCCTTCCCCCTTCCCTTCCTGCCTTCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A3_chr2_227159624_227319792	227203483	A A	ACATATAT others(301): Show ACATATATGTGTGTATATATGTGTATACATACATATATGTGTGTATATAT GTGTATACATACATATATGTGTGTATATATGTGTATACATACATATATGT GTGTATATATGTGTATACATACATATATGTGTGTATATATGTGTATACAT ACATATATGTGTGTATATATGTGTATACATACATATATGTGTGTATATAT GTGTATACATACATATATGTGTGTATATATGTGTATACATACATATATGT GTGTATATATGTGTATACATACATATATGTGTGTATATATGTGTATATAT ACATATATG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	129	0.0078	308	c.88- others(325): Show c.88-34485_88-34484insCATATATGTGTGTATATATGTGTATACA TACATATATGTGTGTATATATGTGTATACATACATATATGTGTGTATATA TGTGTATACATACATATATGTGTGTATATATGTGTATACATACATATATG TGTGTATATATGTGTATACATACATATATGTGTGTATATATGTGTATACA TACATATATGTGTGTATATATGTGTATACATACATATATGTGTGTATATA TGTGTATACATACATATATGTGTGTATATATGTGTATACATACATATATG TGTGTATATATGTGTATATATACATATATG	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
CPB2_chr13_46048186_46110033	46073597	T T	TCAATGTA others(301): Show TCAATGTACTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCTCACTGCAAGCTCCGCCT CCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGC GGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0220 a0002c0002t0002g0220	1	226	0.0044	308	c.591 others(323): Show c.591+275_591+276insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAGAAATAGTACATTG	CPB2	ENSG00000080618.17	transcript	ENST00000181383.10	protein_coding	6/10			chr13	TogoVar
CPNE7_chr16_89570758_89602246	89587785	C C	CCCGTGTC others(301): Show CCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCGTGTTACCCA CAGATACACGGCCCCCCGTGTTACCCGCGTGTCACCCACAGATACACGGC CCCCCGTGTTACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCAC CCACAGATACACGGCCCCCCCGTGTCACCCGCGTGTCACCCACAGAAACA CGGCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGTTACCCGCGTGT CACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCG TGTCACCCG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0231 a0001c0002t0004g0231	1	268	0.0037	308	c.927 others(323): Show c.927+684_927+685insCGTGTCACCCGCGTGTCACCCACAGAAACA CGGCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGTTACCCGCGTGT CACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCC GTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCCGTGTCACCCGC GTGTCACCCACAGAAACACGGCCCCCGTGTTACCCACAGATACACGGCCC CCCGTGTTACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCC ACAGATACACGGCCCCCGTGTCACCCGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587785	C C	CCCGTGTC others(301): Show CCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCG CGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACA GATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCC CGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCG TGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGA TACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCG TGTCACCCG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	268	0.0037	308	c.927 others(323): Show c.927+684_927+685insCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTC ACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCAC CCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACG GCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCAC CCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCC ACAGAAACACGGCCCCCGTGTCACCCGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597975	T T	TCCACCCA others(301): Show TCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATC CGTCCACCCATCCCCCCACCCACCCATCCGTCCACCCATCTGTCCACCCG TCCGTCCATCCATCCCCCCGCCCACCCATCTGTCCACCTATCCGTCCATC CATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCGCCCACCCATCCG TCCACCCACCCATCTGTCCACCCATCCGTCCACCCATCCGTCCACCCATC CCCCCACCCACCCATCCATCCATCCCCCCACCCACCCATCCATCCACCCA TCCCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG03195.hp2 others(2): Show HG02280.hp1 HG02559.hp1 HG03195.hp2 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0006 a0001c0007t0006g0154 a0001c0007t0006g0155 others(1): Show a0001c0007t0006g0006 a0001c0007t0006g0154 a0001c0007t0006g0155 a0001c0007t0006g0252	5	342	0.0146	308	c.13 others(319): Show c.1354_*1355insCCACCCATCCGTCCATCCATCCCCCCACCCACCC ATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCACCCATCCGTCCAC CCATCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCCACCCATCTGTCC ACCTATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCC CCGCCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCCGTCCACCC ATCCGTCCACCCATCCCCCCACCCACCCATCCATCCATCCCCCCACCCAC CCATCCATCCACCCATCCCCCCAC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		730		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597985	C C	CGTCCATC others(301): Show CGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCGTCCACCCA TCCCCCCACCCACCCATCCGTCCACCCATCTGTCCACCCGTCCGTCCATC CATCCCCCCGCCCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCA CCCACCCATCTGTCCACCCATCCCCCCGCCCACCCATCCGTCCACCCACC CATCTGTCCACCCATCCGTCCACCCATCCATCCACCCATCCCCCCACCCA CCCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACC CACCCATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG02129.hp1 NA19004.hp2 others(2): Show HG00642.hp2 HG02129.hp1 NA19004.hp2 NA19009.hp2 NA19087.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0077 a0002c0003t0003g0134 a0002c0003t0003g0141 others(2): Show a0002c0003t0003g0077 a0002c0003t0003g0134 a0002c0003t0003g0141 a0002c0003t0003g0144 a0002c0003t0003g0166	5	277	0.0181	308	c.13 others(319): Show c.1364_*1365insGTCCATCCATCCCCCCACCCACCCATCTGTCCAC CCATCCGTCCACCCATCCCCCCACCCACCCATCCGTCCACCCATCTGTCC ACCCGTCCGTCCATCCATCCCCCCGCCCACCCATCTGTCCACCCATCCGT CCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCGCCCACCC ATCCGTCCACCCACCCATCTGTCCACCCATCCGTCCACCCATCCATCCAC CCATCCCCCCACCCACCCATCCATCCATCCCCCCACCCACCCATCCATCC ACCCATCCCCCCACCCACCCATCT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		740		chr16	TogoVar
CP_chr3_149167497_149226829	149191550	T T	TAAGATCA others(301): Show TAAGATCAGACACATCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAATGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGG GCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02486.hp1 others(7): Show HG02109.hp1 HG02258.hp1 HG02486.hp1 HG02886.hp1 HG02965.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0006t0002	a0002c0002t0001g0003 a0002c0002t0001g0285 a0002c0002t0002g0275 others(5): Show a0002c0002t0001g0003 a0002c0002t0001g0285 a0002c0002t0002g0275 a0002c0002t0003g0280 a0002c0002t0003g0282 a0002c0002t0003g0284 a0002c0006t0002g0271 a0002c0006t0002g0272	10	363	0.0275	308	c.171 others(327): Show c.1714-3349_1714-3348insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGATGTGTCTGATCTT	CP	ENSG00000047457.14	transcript	ENST00000264613.11	protein_coding	9/18			chr3	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCACCC others(301): Show CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCCACCCTCGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCCGTCCCCTCTTTCTCCTCCCTCCCCCCC ACCCTCGGTCCCCTCTTGCCCCTCCCTCCCACCACCCTGGGTCCCCTCTT GCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCC ACCCCGGGT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0093 a0002c0002t0005g0093	1	54	0.0185	308	c.101 others(325): Show c.1010-539_1010-538insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCTCGGTC CCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCC TCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCGTCCCCTCT TTCTCCTCCCTCCCCCCCACCCTCGGTCCCCTCTTGCCCCTCCCTCCCAC CACCCTGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCT TGCCCCTCCCTCCCCCCCACCCCGGGTCCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRTC3_chr15_90524923_90650345	90647272	T T	TCCACAAT others(301): Show TCCACAATCCTCCTCCTCACCCCTCCTCCTCTGCCACACCCCTACTCCTC CTCACCCATCCTCCTCCACACCCCTTCTAGTCCACCACTCCCCCCTCCTC CTCCACACCCCTCCTCCTCCTCCACACTCTTACCCCTCCACACCCCTCCT CTTCCACCAGACCCCTCCTCCACACCCCTCCCCCCACCTCACTTCTCCCC CTTCACACACCTCCTCAACCTTCACATCCCTCCCCCTCCACATCCCTTCC CCCTCCTCACCCCTCTCCCCTCATCACCTCTCCTCCTCCTCCACACCCCT CCTCCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0262 a0003c0003t0001g0262	1	143	0.0070	308	c.51 others(319): Show c.5132_*5133insCCACAATCCTCCTCCTCACCCCTCCTCCTCTGCC ACACCCCTACTCCTCCTCACCCATCCTCCTCCACACCCCTTCTAGTCCAC CACTCCCCCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACTCTTACCC CTCCACACCCCTCCTCTTCCACCAGACCCCTCCTCCACACCCCTCCCCCC ACCTCACTTCTCCCCCTTCACACACCTCCTCAACCTTCACATCCCTCCCC CTCCACATCCCTTCCCCCTCCTCACCCCTCTCCCCTCATCACCTCTCCTC CTCCTCCACACCCCTCCTCCTCCA	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1928		chr15	TogoVar
CRYBG1_chr6_106355717_106577017	106365679	T T	TATTTTTT others(301): Show TATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02258.hp2 HG03486.hp2 HG00642.hp2 HG02258.hp2 HG03486.hp2	a0001 a0002 a0052 a0001 a0002 a0052	a0001c0001 a0002c0003 a0052c0055 a0001c0001 a0002c0003 a0052c0055	a0001c0001t0001 a0002c0003t0006 a0052c0055t0001 a0001c0001t0001 a0002c0003t0006 a0052c0055t0001	a0001c0001t0001g0043 a0002c0003t0006g0044 a0052c0055t0001g0050 a0001c0001t0001g0043 a0002c0003t0006g0044 a0052c0055t0001g0050	3	239	0.0126	308	c.173 others(325): Show c.173+4608_173+4609insTTTTTTTTTTTTTTTGAGACGGAGTCTC ACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC ATGAGCCACCGCGCCCGGCCATTTTTTTTT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CTSS_chr1_150725188_150770778	150744134	A A	ATATATTA others(301): Show ATATATTATATATTATATGTATATTATGTATACATAATATATTATATATT ATATGTATATTATGTATACATAATATATTATATATTATATGTATATTATG TATACATAATATATTATATATTATATGTATATTATGTATACATAATATAT TATATATTATATGTATATTATGTATACATAATATTTATATATTATATGTA TATTATGTATACATAATATATTATATATTATATGTATATTATGTATACAT AATATTTATATATTATATGTATATTATGTATACATAATATTTATATATTA TATGTATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18970.hp1 NA18993.hp2 others(1): Show HG00438.hp2 NA18970.hp1 NA18993.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0012 a0001c0001t0003g0002 a0001c0001t0003g0012	4	88	0.0455	308	c.896 others(325): Show c.896+3642_896+3643insATATACATATAATATATAAATATTATGT ATACATAATATACATATAATATATAAATATTATGTATACATAATATACAT ATAATATATAATATATTATGTATACATAATATACATATAATATATAAATA TTATGTATACATAATATACATATAATATATAATATATTATGTATACATAA TATACATATAATATATAATATATTATGTATACATAATATACATATAATAT ATAATATATTATGTATACATAATATACATATAATATATAATATATTATGT ATACATAATATACATATAATATATAATATA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CUX2_chr12_111029165_111355554	111326188	G G	GTTTGTTT others(301): Show GTTTGTTTATAGTGTTGCGGTGGGGGAGGGGTTGGTTTTGTTTATAGTGT TGGGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGTTGGGGGAGGG GTGGGTTTTGTTTATAGTGTTGTGGGGGAGGGGTGGGTTTTGTTTATAGT GTTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGTTGGGGGAG GGGTGGGTTTTGTTTATAGTGTTGTGGGGGAGGGGTGGGTTTTGTTTATA GTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGATGGGGA GGGGTTGGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0041 a0001c0014t0001g0041	1	35	0.0286	308	c.292 others(327): Show c.2926+3624_2926+3625insCGGTGGGGGAGGGGTTGGTTTTGTTT ATAGTGTTGGGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGTTGG GGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGGGGAGGGGTGGGTTTTGT TTATAGTGTTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGTT GGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGGGGAGGGGTGGGTTTT GTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTG ATGGGGAGGGGTTGGTTTTGTTTATAGTGTTG	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CXCL6_chr4_73831678_73843760	73842184	T T	TAATTATA others(301): Show TAATTATACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCA GTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCG CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTT AGCCAGGATGGTTTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCT CCCAAAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG02071.hp2 NA18962.hp1 others(3): Show HG00438.hp1 HG02071.hp2 NA18962.hp1 NA18986.hp2 NA19074.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	6	424	0.0142	308	c.45 others(319): Show c.4543_*4544insAATTATACTTCTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCC GGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTTTCGATCTCCTGACCTCATGATC CACCCGCCTCGGCCTCCCAAAGTG	CXCL6	ENSG00000124875.10	transcript	ENST00000226317.10	protein_coding		3425		chr4	TogoVar
CXorf51A_chrX_146809106_146819744	146812296	T T	TGTACATA others(301): Show TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTACATATATGTGTATATA TGTATATACACATATATATGTGTACATATATGTGTATATATGTATATACA CATATATATGTGTACATATATGTGTATATATGTATATACACATATATATG TGTATATATGTATATACACATATATATGTGTACATATATGTGTGTATATG TGTGTATATATACATATATGTGTATATACGTATATACACATGTGTATATA CGTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00733.hp1 others(42): Show HG00140.hp1 HG00280.hp1 HG00733.hp1 HG00738.hp1 HG01081.hp1 HG01106.hp1 HG01496.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02559.hp1 HG02602.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 NA18948.hp1 NA18951.hp2 NA18959.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18990.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19010.hp1 NA19012.hp1 NA19057.hp1 NA19064.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0003 a0001c0001 a0002c0002 a0005c0003	a0001c0001t0001 a0002c0002t0001 a0005c0003t0001 a0001c0001t0001 a0002c0002t0001 a0005c0003t0001	a0001c0001t0001g0001 a0002c0002t0001g0003 a0005c0003t0001g0005 a0001c0001t0001g0001 a0002c0002t0001g0003 a0005c0003t0001g0005	45	146	0.3082	308	c.19 others(319): Show c.1910_*1911insGTATATACGTATATACACATGTGTATATACGTAT ATACACATATATGTATATATACACACATATACACACATATATGTACACAT ATATATGTGTATATACATATATACACATATATATGTGTATATACATATAT ACACATATATGTACACATATATATGTGTATATACATATATACACATATAT GTACACATATATATGTGTATATACATATATACACATATATGTACACATAT ATATGTGTATATACATATATACACATATATGTACACATATATATGTGTAT ATACATATATACACATATATGTAC	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1809		chrX	TogoVar
CXorf51A_chrX_146809106_146819744	146812296	T T	TGTACATA others(301): Show TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTACATATATGTGTATATA TGTATATACACATATATATGTGTACATATATGTGTATATATGTATATACA CATATATATGTGTACATATATGTGTATATATGTATATACACATATATATG TGTATATATGTATATACACATATATGTGTGTACATATATGTGTGTATATG TGTGTATATATACATATATGTGTATATACGTATATACACATGTGTATATA CGTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	102	0.0098	308	c.19 others(319): Show c.1910_*1911insGTATATACGTATATACACATGTGTATATACGTAT ATACACATATATGTATATATACACACATATACACACATATATGTACACAC ATATATGTGTATATACATATATACACATATATATGTGTATATACATATAT ACACATATATGTACACATATATATGTGTATATACATATATACACATATAT GTACACATATATATGTGTATATACATATATACACATATATGTACACATAT ATATGTGTATATACATATATACACATATATGTACACATATATATGTGTAT ATACATATATACACATATATGTAC	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1809		chrX	TogoVar
CXorf51A_chrX_146809106_146819744	146812300	C C	CATATATA others(301): Show CATATATATGTGTATATACATATATACACATATATATGTGTATATACATA TATACACATATATGTACACATATATATGTGTATATACATATATACACATA TATGTACACATATATATGTGTATATACATATATACACATATATGTACACA TATATATGTGTATATACATATATACACATATATGTACACATATATATGTG TATATACATATATACACATATATGTACACATATATATGTGTATATATGTG TGTATATACATATATGTGTATATACGTATATACACATGTGTATATACGTA TATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	195	0.0051	308	c.19 others(319): Show c.1906_*1907insATGTGTATATACGTATATACACATGTGTATATAC GTATATACACATATATGTATATACACACATATATACACATATATATGTGT ACATATATGTGTATATATGTATATACACATATATATGTGTACATATATGT GTATATATGTATATACACATATATATGTGTACATATATGTGTATATATGT ATATACACATATATATGTGTACATATATGTGTATATATGTATATACACAT ATATATGTGTACATATATGTGTATATATGTATATACACATATATATGTGT ATATATGTATATACACATATATAT	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1805		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812296	T T	TGTACATA others(301): Show TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTACATATATGTGTATATA TGTATATACACATATATATGTGTACATATATGTGTATATATGTATATACA CATATATATGTGTACATATATGTGTATATATGTATATACACATATATATG TGTATATATGTATATACACATATATATGTGTACATATATGTGTGTATATG TGTGTATATATACATATATGTGTATATACGTATATACACATGTGTATATA CGTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00738.hp1 others(35): Show HG00140.hp1 HG00280.hp1 HG00738.hp1 HG01106.hp1 HG01496.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02559.hp2 HG02602.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 NA18947.hp1 NA18948.hp1 NA18959.hp1 NA18977.hp1 NA18980.hp1 NA18983.hp1 NA18990.hp1 NA18995.hp1 NA19012.hp1 NA19057.hp2 NA19064.hp1 NA19084.hp1 NA19085.hp1 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	38	155	0.2452	308	c.19 others(319): Show c.1988_*1989insGTACATATATGTGTATATATGTATATACACATAT ATATGTGTACATATATGTGTATATATGTATATACACATATATATGTGTAC ATATATGTGTATATATGTATATACACATATATATGTGTACATATATGTGT ATATATGTATATACACATATATATGTGTACATATATGTGTATATATGTAT ATACACATATATATGTGTATATATGTATATACACATATATATGTGTACAT ATATGTGTGTATATGTGTGTATATATACATATATGTGTATATACGTATAT ACACATGTGTATATACGTATATAC	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1886		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812296	T T	TGTACATA others(301): Show TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTACATATATGTGTATATA TGTATATACACATATATATGTGTACATATATGTGTATATATGTATATACA CATATATATGTGTACATATATGTGTATATATGTATATACACATATATATG TGTATATATGTATATACACATATATGTGTGTACATATATGTGTGTATATG TGTGTATATATACATATATGTGTATATACGTATATACACATGTGTATATA CGTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	118	0.0085	308	c.19 others(319): Show c.1988_*1989insGTACATATATGTGTATATATGTATATACACATAT ATATGTGTACATATATGTGTATATATGTATATACACATATATATGTGTAC ATATATGTGTATATATGTATATACACATATATATGTGTACATATATGTGT ATATATGTATATACACATATATATGTGTACATATATGTGTATATATGTAT ATACACATATATATGTGTATATATGTATATACACATATATGTGTGTACAT ATATGTGTGTATATGTGTGTATATATACATATATGTGTATATACGTATAT ACACATGTGTATATACGTATATAC	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1886		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812300	C C	CATATATA others(301): Show CATATATATGTGTATATACATATATACACATATATATGTGTATATACATA TATACACATATATGTACACATATATATGTGTATATACATATATACACATA TATGTACACATATATATGTGTATATACATATATACACATATATGTACACA TATATATGTGTATATACATATATACACATATATGTACACATATATATGTG TATATACATATATACACATATATGTACACATATATATGTGTATATATGTG TGTATATACATATATGTGTATATACGTATATACACATGTGTATATACGTA TATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	199	0.0050	308	c.19 others(319): Show c.1992_*1993insATATATATGTGTATATACATATATACACATATAT ATGTGTATATACATATATACACATATATGTACACATATATATGTGTATAT ACATATATACACATATATGTACACATATATATGTGTATATACATATATAC ACATATATGTACACATATATATGTGTATATACATATATACACATATATGT ACACATATATATGTGTATATACATATATACACATATATGTACACATATAT ATGTGTATATATGTGTGTATATACATATATGTGTATATACGTATATACAC ATGTGTATATACGTATATACACAT	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1890		chrX	TogoVar
CYP3A5_chr7_99643194_99684996	99675638	T T	TCTCCTCT others(301): Show TCTCCTCTCCTCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCC CTTCCCCTCCCCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCCCC TCCCCTCCCCTCTCCTCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCC CCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCC CTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCC CTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCC TCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	16	0.0625	308	c.165 others(323): Show c.165+476_165+477insGGGAGGGGAGGGGGAGGAGGGGAGGGGAGG GGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAGG GGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGAGGAGGGGAGGGGAGGG GGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGAGGGGGGAG GAGGGGAGGGGAGAGGAGAGGGGAGGGGAGGGGAGAGGAGAGGGGAGGGG AGGGGGAGAGGAGAGGAGGGGAGGGGAAGGGGGAGGGGAGAGGGGAGGGG GAGGGGAGAGGAGTGGGGAGGAGAGGAG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
CYTIP_chr2_157409619_157449089	157423466	T T	TAAAAAAA others(301): Show TAAAAAAAAACCAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTGGCGGACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18967.hp1 NA18971.hp2 HG02165.hp1 NA18967.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0017 a0001c0001t0005g0151 a0001c0001t0001g0017 a0001c0001t0005g0151	3	262	0.0115	308	c.546 others(325): Show c.546+3884_546+3885insTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGTCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTCTGGTTTTTTTTT	CYTIP	ENSG00000115165.10	transcript	ENST00000264192.8	protein_coding	6/7			chr2	TogoVar
DCLK2_chr4_150073445_150262438	150251171	C C	CACCCCCC others(301): Show CACCCCCCCAACACCCCCACACCACACATCCCCCACACCACACATCCCCC ACACCCCCCACACCCCCACACACCCCCCACACACCCCCCACACCCCCCAA CACCCCCACACCACACATCCCCCACACCACACATCCCCCACACACCCCCC AACACCCCCACACCCCCACACACCCCCCACACACCCCCCACACCCCCAAA TCCCCCACACCCCCCACATCTCCCCACACCCCCCACATCCCCACACCCCC ATCCCCCACACTCCCCACACCCCCCACACCCCCCACACCACACATCCCCC ACACCCCAA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	107	0.0093	308	c.207 others(327): Show c.2073+1488_2073+1489insCCCCCCCAACACCCCCACACCACACA TCCCCCACACCACACATCCCCCACACCCCCCACACCCCCACACACCCCCC ACACACCCCCCACACCCCCCAACACCCCCACACCACACATCCCCCACACC ACACATCCCCCACACACCCCCCAACACCCCCACACCCCCACACACCCCCC ACACACCCCCCACACCCCCAAATCCCCCACACCCCCCACATCTCCCCACA CCCCCCACATCCCCACACCCCCATCCCCCACACTCCCCACACCCCCCACA CCCCCCACACCACACATCCCCCACACCCCAAA	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar

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