Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

Snpeff annotation impact detail

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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
CCZ1B_chr7_6793937_6831275	6797863	A A	ATACACAC others(98): Show ATACACACACACACACACACACACACACACACACACACACATATACATAC ACACACACACACACATATATATACACACACATATATATATACACACACAC ACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00741.hp2 HG01099.hp1 others(18): Show HG00099.hp1 HG00741.hp2 HG01099.hp1 HG01261.hp1 HG01358.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG02004.hp1 HG02300.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp2 HG03942.hp2 HG04228.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0009 a0002c0003t0003 a0002c0003t0004 others(1): Show a0001c0001t0009 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005	a0001c0001t0009g0266 a0001c0001t0009g0267 a0002c0003t0003g0104 others(15): Show a0001c0001t0009g0266 a0001c0001t0009g0267 a0002c0003t0003g0104 a0002c0003t0003g0106 a0002c0003t0003g0138 a0002c0003t0003g0139 a0002c0003t0003g0149 a0002c0003t0003g0163 a0002c0003t0003g0164 a0002c0003t0004g0153 a0002c0003t0005g0006 a0002c0003t0005g0020 a0002c0003t0005g0140 a0002c0003t0005g0141 a0002c0003t0005g0142 a0002c0003t0005g0152 a0002c0003t0005g0168 a0002c0003t0005g0169	21	290	0.0724	105	c.13 others(116): Show c.1360_*1361insATGTGTGTGTGTGTGTATATATATATGTGTGTGT ATATATATGTGTGTGTGTGTGTGTATGTATATGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTA	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		1073		chr7	TogoVar
CD81_chr11_2372310_2402397	2385603	T T	TGTCGTCT others(98): Show TGTCGTCTGTGCACCCGTGCTGTGGCGTGCCTGTTGTCTGTGTGGCATGC CTGTCGTCTGTGCACCCATGCTGTGGCGTGCCTGTTGTCTGTGTGGCATG CCTGTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02004.hp1 HG02145.hp1 others(30): Show HG00639.hp2 HG02004.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp2 NA18906.hp2 NA18967.hp2 NA18974.hp1 NA18979.hp2 NA18983.hp2 NA18991.hp1 NA18998.hp1 NA19011.hp2 NA19091.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0004t0005 a0001c0004t0014	a0001c0001t0001g0059 a0001c0002t0002g0007 a0001c0002t0002g0020 others(20): Show a0001c0001t0001g0059 a0001c0002t0002g0007 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0032 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0076 a0001c0002t0005g0071 a0001c0002t0005g0072 a0001c0004t0005g0034 a0001c0004t0005g0069 a0001c0004t0005g0070 a0001c0004t0005g0079 a0001c0004t0005g0080 a0001c0004t0014g0034	33	165	0.2000	105	c.67- others(120): Show c.67-4806_67-4805insGTCTGTGCACCCGTGCTGTGGCGTGCCTGT TGTCTGTGTGGCATGCCTGTCGTCTGTGCACCCATGCTGTGGCGTGCCTG TTGTCTGTGTGGCATGCCTGTCGTC	CD81	ENSG00000110651.13	transcript	ENST00000263645.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
CD81_chr11_2372310_2402397	2385603	T T	TGTCGTCT others(98): Show TGTCGTCTGTGCACCCGTGCTGTGGCGTGCCTGTTGTCTGTGTGGCATGC CTGTCGTCTGTGCACCCATGCTGTGGTGTGCCTGTTGTCTGTGTGGCATG CCTGTC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0068 a0001c0002t0002g0068	1	133	0.0075	105	c.67- others(120): Show c.67-4806_67-4805insGTCTGTGCACCCGTGCTGTGGCGTGCCTGT TGTCTGTGTGGCATGCCTGTCGTCTGTGCACCCATGCTGTGGTGTGCCTG TTGTCTGTGTGGCATGCCTGTCGTC	CD81	ENSG00000110651.13	transcript	ENST00000263645.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
CDH12_chr5_21745673_22858344	21833044	A A	ATATATAT others(98): Show ATATATATTATATGTTATATAACATATAATATATAATATATATTATATGT TATATAACATATAATATATAATATATATTATATGTTATATAACATATAAT ATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0044 a0001c0001t0009g0044	1	53	0.0189	105	c.814 others(122): Show c.814+9116_814+9117insATATATATTATATGTTATATAACATATA ATATATATTATATATTATATGTTATATAACATATAATATATATTATATAT TATATGTTATATAACATATAATATATA	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	8/14			chr5	TogoVar
CDH15_chr16_89166748_89200492	89182135	C C	CAGCCTGC others(98): Show CAGCCTGCCCTCCCCCAGCCTCCCCTCCCCCAGCCTGCCCTCCCCCAGCC TGCCCTCCCCAAGCCTCCCCTCCCCCAGCCTGCCCTCCCCCAGCCTGCCC TCCCCA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0265 a0002c0002t0001g0265	1	396	0.0025	105	c.358 others(122): Show c.358-1408_358-1407insGCCCTCCCCCAGCCTCCCCTCCCCCAGC CTGCCCTCCCCCAGCCTGCCCTCCCCAAGCCTCCCCTCCCCCAGCCTGCC CTCCCCCAGCCTGCCCTCCCCAAGCCT	CDH15	ENSG00000129910.8	transcript	ENST00000289746.3	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH15_chr16_89166748_89200492	89192563	C C	CCCCCTCA others(98): Show CCCCCTCATTACCAGCCACGCCGCTTCCTCCCAGCTCCGCCTCCTCCCTA CCCGCCCGTCTTACCAGCCACGCCGCTTCCTCCAGCTCCGCCTCCTCCTA ACCCCG	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0001 a0002c0021t0001	a0002c0021t0001g0148 a0002c0021t0001g0148	1	404	0.0025	105	c.185 others(122): Show c.1855+150_1855+151insAGCTCCGCCTCCTCCCTACCCGCCCGTC TTACCAGCCACGCCGCTTCCTCCAGCTCCGCCTCCTCCTAACCCCGCCCC TCATTACCAGCCACGCCGCTTCCTCCC	CDH15	ENSG00000129910.8	transcript	ENST00000289746.3	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CELF4_chr18_37238040_37570798	37337987	C C	CCATTGTC others(98): Show CCATTGTCACCACTACTGTCACTGCCACCACCACCACTGTCGCTGCCACC ATCTGTTACCTTAACCTTGTCACTATGACTGTCACTGACACCATTGTCAC CACTAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA18983.hp2 HG04199.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0084 a0001c0001t0001g0071 a0001c0001t0001g0084	2	128	0.0156	105	c.370 others(124): Show c.370-16107_370-16106insATAGTGGTGACAATGGTGTCAGTGAC AGTCATAGTGACAAGGTTAAGGTAACAGATGGTGGCAGCGACAGTGGTGG TGGTGGCAGTGACAGTAGTGGTGACAATG	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37338276	T T	TGTCACTG others(98): Show TGTCACTGACACCATTGTCACCACTATCATTGTCACCACTACTGTCACTG CCACCACCACCACTGTCGCTGCCACCATCTGTTACCTTAACCTTGTCACT ATGACC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0021 a0001c0001t0017g0021	1	158	0.0063	105	c.370 others(124): Show c.370-16396_370-16395insGGTCATAGTGACAAGGTTAAGGTAAC AGATGGTGGCAGCGACAGTGGTGGTGGTGGCAGTGACAGTAGTGGTGACA ATGATAGTGGTGACAATGGTGTCAGTGAC	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37338381	T T	TGTCACTG others(98): Show TGTCACTGACACCATTGTCACCACTATCATTGTCACCACTACTGTCACTG CCACCACCACCACTGTCGCTGCCACCATCTGTTACCTTAACCTTGTCACT ATGACC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02965.hp1 HG04184.hp1 HG02109.hp2 HG02965.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0002t0003 a0001c0001t0002 a0001c0001t0006 a0001c0002t0003	a0001c0001t0002g0171 a0001c0001t0006g0041 a0001c0002t0003g0064 a0001c0001t0002g0171 a0001c0001t0006g0041 a0001c0002t0003g0064	3	146	0.0205	105	c.370 others(124): Show c.370-16501_370-16500insGGTCATAGTGACAAGGTTAAGGTAAC AGATGGTGGCAGCGACAGTGGTGGTGGTGGCAGTGACAGTAGTGGTGACA ATGATAGTGGTGACAATGGTGTCAGTGAC	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELSR1_chr22_46356174_46542620	46366255	A A	AGAAAGGT others(98): Show AGAAAGGTGGGGGGGAGGAGAGGTGCACGGGGGGAGGAGAGGTGCACAGG GGGAGGAAAGGTGCGGGGGGAGGAAAGGTGCGGGGGGAGGAAAGGTGCGG GGGGAG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03834.hp1 HG01099.hp1 HG03834.hp1	a0001 a0012 a0001 a0012	a0001c0004 a0012c0029 a0001c0004 a0012c0029	a0001c0004t0001 a0012c0029t0001 a0001c0004t0001 a0012c0029t0001	a0001c0004t0001g0032 a0012c0029t0001g0033 a0001c0004t0001g0032 a0012c0029t0001g0033	2	4	0.5000	105	c.830 others(122): Show c.8300+130_8300+131insCTCCCCCCGCACCTTTCCTCCCCCCGCA CCTTTCCTCCCCCCGCACCTTTCCTCCCCCTGTGCACCTCTCCTCCCCCC GTGCACCTCTCCTCCCCCCCACCTTTC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	30/34			chr22	TogoVar
CELSR1_chr22_46356174_46542620	46366255	A A	AGAAAGGT others(98): Show AGAAAGGTGGGGGGGAGGAGAGGTGCACGGGGGGAGGAGAGGTGCACGGG GGGAGGAAAGGTGCGGGGGGAGGAAAGGTGCGGGGGGAGGAAAGGTGCGG GGGGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00609.hp1 others(53): Show HG00099.hp1 HG00099.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG03195.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG04228.hp1 NA18612.hp1 NA18970.hp1 NA18970.hp2 NA18995.hp1 NA18995.hp2 NA19066.hp1 NA19066.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0001 a0003 a0005 others(9): Show a0001 a0003 a0005 a0009 a0013 a0014 a0024 a0030 a0035 a0040 a0044 a0046	a0001c0001 a0001c0002 a0001c0004 others(23): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0017 a0001c0025 a0001c0026 a0001c0027 a0001c0028 a0001c0030 a0001c0033 a0001c0038 a0001c0039 a0001c0043 a0003c0003 a0005c0052 a0005c0053 a0009c0024 a0013c0007 a0014c0031 a0024c0054 a0030c0055 a0035c0046 a0040c0049 a0044c0067 a0046c0035	a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 others(27): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0002t0001 a0001c0004t0001 a0001c0006t0001 a0001c0017t0001 a0001c0025t0001 a0001c0026t0001 a0001c0027t0001 a0001c0028t0001 a0001c0030t0001 a0001c0033t0001 a0001c0038t0001 a0001c0039t0001 a0001c0043t0001 a0003c0003t0001 a0003c0003t0015 a0005c0052t0001 a0005c0053t0001 a0009c0024t0001 a0013c0007t0001 a0014c0031t0001 a0024c0054t0001 a0030c0055t0001 a0035c0046t0001 a0040c0049t0001 a0044c0067t0001 a0046c0035t0001	a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0041 others(53): Show a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0011g0028 a0001c0001t0012g0034 a0001c0001t0014g0060 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0019 a0001c0004t0001g0057 a0001c0006t0001g0044 a0001c0006t0001g0064 a0001c0017t0001g0018 a0001c0025t0001g0070 a0001c0026t0001g0040 a0001c0027t0001g0079 a0001c0028t0001g0038 a0001c0030t0001g0047 a0001c0033t0001g0058 a0001c0038t0001g0073 a0001c0039t0001g0088 a0001c0043t0001g0027 a0003c0003t0001g0008 a0003c0003t0001g0009 a0003c0003t0015g0010 a0005c0052t0001g0090 a0005c0053t0001g0089 a0009c0024t0001g0046 a0013c0007t0001g0004 a0014c0031t0001g0083 a0024c0054t0001g0091 a0030c0055t0001g0092 a0035c0046t0001g0035 a0040c0049t0001g0055 a0044c0067t0001g0102 a0046c0035t0001g0076	56	58	0.9655	105	c.830 others(122): Show c.8300+130_8300+131insCTCCCCCCGCACCTTTCCTCCCCCCGCA CCTTTCCTCCCCCCGCACCTTTCCTCCCCCCGTGCACCTCTCCTCCCCCC GTGCACCTCTCCTCCCCCCCACCTTTC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	30/34			chr22	TogoVar
CEMIP_chr15_80774370_80956771	80911950	G G	GGATTGCT others(98): Show GGATTGCTGGGAAAGGCTGGGAGAGCTGGGAGAGGCTGGGAGAGCTGGGA GAGGCTGTGATTGCTGGGAGAGGCTGGGAGAGGCTGGGAGAGCTGGGAGA CGCTGA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	94	0.0106	105	c.179 others(124): Show c.1797+2743_1797+2744insCGCTGAGATTGCTGGGAAAGGCTGGG AGAGCTGGGAGAGGCTGGGAGAGCTGGGAGAGGCTGTGATTGCTGGGAGA GGCTGGGAGAGGCTGGGAGAGCTGGGAGA	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	14/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80911950	G G	GGATTGCT others(98): Show GGATTGCTGGGAAAGGCTGGGAGAGCTGGGAGAGGCTGGGAGAGCTGGGA GAGGCTGTGATTGCTGGGAGAGGCTGGGAGAGGCTGGGAGAGCTGGGAGA GGCTGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(148): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00735.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18959.hp1 NA18959.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19081.hp1 NA19081.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19090.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0012 a0013	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0026 a0001c0034 a0002c0031 a0003c0009 a0004c0015 a0005c0018 a0006c0016 a0007c0023 a0009c0035 a0010c0021 a0012c0025 a0013c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0024 a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 a0001c0005t0003 a0001c0005t0008 a0001c0007t0003 a0001c0007t0013 a0001c0008t0003 a0001c0010t0001 a0001c0026t0001 a0001c0034t0001 a0002c0031t0001 a0003c0009t0001 a0004c0015t0001 a0004c0015t0012 a0005c0018t0001 a0005c0018t0002 a0006c0016t0001 a0007c0023t0001 a0009c0035t0001 a0010c0021t0001 a0012c0025t0001 a0013c0027t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(148): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0212 a0001c0001t0001g0230 a0001c0001t0001g0239 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0142 a0001c0001t0002g0169 a0001c0001t0002g0177 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0238 a0001c0001t0009g0166 a0001c0001t0009g0167 a0001c0001t0010g0131 a0001c0001t0014g0214 a0001c0001t0015g0024 a0001c0001t0019g0149 a0001c0001t0024g0004 a0001c0002t0001g0127 a0001c0003t0001g0116 a0001c0003t0001g0118 a0001c0003t0004g0133 a0001c0005t0003g0122 a0001c0005t0003g0162 a0001c0005t0008g0019 a0001c0005t0008g0115 a0001c0005t0008g0187 a0001c0007t0003g0054 a0001c0007t0013g0205 a0001c0008t0003g0073 a0001c0008t0003g0140 a0001c0010t0001g0136 a0001c0010t0001g0165 a0001c0026t0001g0010 a0001c0034t0001g0021 a0002c0031t0001g0047 a0003c0009t0001g0014 a0003c0009t0001g0100 a0003c0009t0001g0101 a0004c0015t0001g0078 a0004c0015t0012g0217 a0005c0018t0001g0106 a0005c0018t0002g0226 a0006c0016t0001g0023 a0006c0016t0001g0184 a0007c0023t0001g0157 a0009c0035t0001g0160 a0010c0021t0001g0085 a0012c0025t0001g0025 a0013c0027t0002g0178	151	244	0.6189	105	c.179 others(124): Show c.1797+2701_1797+2805dupTGATTGCTGGGAGAGGCTGGGAGAGG CTGGGAGAGCTGGGAGAGGCTGAGATTGCTGGGAAAGGCTGGGAGAGCTG GGAGAGGCTGGGAGAGCTGGGAGAGGCTG	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	14/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80911950	G G	GGATTGCT others(98): Show GGATTGCTGGGAAAGGCTGGGAGAGCTGGGAGAGGCTGTGAGAGCTGGGA GAGGCTGTGATTGCTGGGAGAGGCTGGGAGAGGCTGGGAGAGCTGGGAGA GGCTGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02723.hp2 HG02809.hp1 others(2): Show HG02615.hp1 HG02723.hp2 HG02809.hp1 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 a0001c0003t0005	a0001c0001t0001g0109 a0001c0001t0001g0243 a0001c0001t0005g0138 others(2): Show a0001c0001t0001g0109 a0001c0001t0001g0243 a0001c0001t0005g0138 a0001c0003t0001g0250 a0001c0003t0005g0105	5	98	0.0510	105	c.179 others(124): Show c.1797+2681_1797+2682insTGAGAGCTGGGAGAGGCTGTGATTGC TGGGAGAGGCTGGGAGAGGCTGGGAGAGCTGGGAGAGGCTGAGATTGCTG GGAAAGGCTGGGAGAGCTGGGAGAGGCTG	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	14/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CENPQ_chr6_49458370_49498107	49487172	A A	AAAAAAAA others(98): Show AAAAAAAAAAGATGGTCCTGAGTTGATAATTCAAACTGGCCAATATGTAT ATGGGTGTTCATGATAACATTCTCTCTTACTGTATGTGTTTGAAATTTAC TATAAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0202 a0002c0002t0002g0202	1	8	0.1250	105	c.478 others(122): Show c.478-1174_478-1173insAAAGATGGTCCTGAGTTGATAATTCAAA CTGGCCAATATGTATATGGGTGTTCATGATAACATTCTCTCTTACTGTAT GTGTTTGAAATTTACTATAATAAAAAA	CENPQ	ENSG00000031691.7	transcript	ENST00000335783.4	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
CENPQ_chr6_49458370_49498107	49487172	A A	AAAAAAAA others(98): Show AAAAAAAAAAGATGGTCCTGAGTTGATAATTGAAACTGGCCAATATGTAT ATGGGTGTTCATGATAACATTCTCTCTTACTGTATGTGTTTGAAATTTAC TATAAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG01255.hp1 others(42): Show HG00438.hp2 HG00544.hp2 HG01255.hp1 HG01891.hp2 HG01978.hp1 HG01993.hp1 HG02056.hp1 HG02132.hp2 HG02135.hp2 HG02258.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp2 HG03669.hp2 HG04115.hp2 HG04184.hp2 NA18939.hp2 NA18941.hp1 NA18960.hp1 NA18964.hp1 NA18969.hp2 NA18978.hp2 NA18979.hp2 NA18985.hp2 NA18989.hp2 NA18991.hp2 NA18995.hp2 NA18997.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp2 NA19067.hp2 NA19072.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0002 a0004c0004 a0006c0006 a0002c0002 a0004c0004 a0006c0006	a0002c0002t0002 a0002c0002t0008 a0004c0004t0004 others(1): Show a0002c0002t0002 a0002c0002t0008 a0004c0004t0004 a0006c0006t0004	a0002c0002t0002g0004 a0002c0002t0002g0015 a0002c0002t0002g0035 others(20): Show a0002c0002t0002g0004 a0002c0002t0002g0015 a0002c0002t0002g0035 a0002c0002t0002g0040 a0002c0002t0002g0184 a0002c0002t0002g0187 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0200 a0002c0002t0002g0203 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0222 a0002c0002t0008g0199 a0004c0004t0004g0005 a0004c0004t0004g0038 a0004c0004t0004g0039 a0004c0004t0004g0189 a0004c0004t0004g0206 a0004c0004t0004g0209 a0006c0006t0004g0039 a0006c0006t0004g0210	45	52	0.8654	105	c.478 others(122): Show c.478-1174_478-1173insAAAGATGGTCCTGAGTTGATAATTGAAA CTGGCCAATATGTATATGGGTGTTCATGATAACATTCTCTCTTACTGTAT GTGTTTGAAATTTACTATAATAAAAAA	CENPQ	ENSG00000031691.7	transcript	ENST00000335783.4	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP72_chr5_607340_658553	649992	G G	GACTGTGA others(98): Show GACTGTGAGGTGTGACTGTGAGGCGTGGATTGTGAGGTGTGACTGTGAGG CGTGACTGTGAGGCGTGACTGTGAGGCGTGGACTGTGAGGCGTGACTGTG AGGCGT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	65	0.0154	105	c.177 others(124): Show c.1778+2076_1778+2077insACTGTGAGGTGTGACTGTGAGGCGTG GATTGTGAGGTGTGACTGTGAGGCGTGACTGTGAGGCGTGACTGTGAGGC GTGGACTGTGAGGCGTGACTGTGAGGCGT	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11			chr5	TogoVar
CFAP46_chr10_132803392_132947570	132917898	T T	TGCACCTC others(98): Show TGCACCTCAGCACCGATGAACCCCCCTCTCCACGACGCACCTCAGCACCG ATGAACCCCCCTCTCCACGACGCACCTCAGCACCGATGAACCCCCCTCTC CACGAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01884.hp2 HG01891.hp1 others(14): Show HG01106.hp1 HG01884.hp2 HG01891.hp1 HG02145.hp2 HG02258.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02809.hp2 HG03017.hp1 HG03225.hp2 HG03453.hp2 HG03669.hp1 HG06807.hp2 NA20129.hp2	a0005 a0010 a0012 others(7): Show a0005 a0010 a0012 a0015 a0021 a0036 a0041 a0050 a0054 a0057	a0005c0013 a0005c0047 a0010c0011 others(9): Show a0005c0013 a0005c0047 a0010c0011 a0012c0076 a0015c0022 a0015c0061 a0021c0033 a0036c0092 a0041c0077 a0050c0071 a0054c0105 a0057c0104	a0005c0013t0001 a0005c0047t0001 a0010c0011t0001 others(9): Show a0005c0013t0001 a0005c0047t0001 a0010c0011t0001 a0012c0076t0001 a0015c0022t0001 a0015c0061t0001 a0021c0033t0001 a0036c0092t0001 a0041c0077t0001 a0050c0071t0002 a0054c0105t0001 a0057c0104t0001	a0005c0013t0001g0151 a0005c0013t0001g0152 a0005c0047t0001g0150 others(14): Show a0005c0013t0001g0151 a0005c0013t0001g0152 a0005c0047t0001g0150 a0010c0011t0001g0130 a0010c0011t0001g0240 a0010c0011t0001g0241 a0010c0011t0001g0242 a0012c0076t0001g0131 a0015c0022t0001g0211 a0015c0022t0001g0212 a0015c0061t0001g0210 a0021c0033t0001g0237 a0036c0092t0001g0125 a0041c0077t0001g0127 a0050c0071t0002g0003 a0054c0105t0001g0239 a0057c0104t0001g0236	17	218	0.0780	105	c.198 others(122): Show c.1986+390_1986+494dupGTCGTGGAGAGGGGGGTTCATCGGTGCT GAGGTGCGTCGTGGAGAGGGGGGTTCATCGGTGCTGAGGTGCGTCGTGGA GAGGGGGGTTCATCGGTGCTGAGGTGC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	16/57			chr10	TogoVar
CFAP65_chr2_218997846_219046516	219009687	G G	GGGGTGGG others(98): Show GGGGTGGGATGGGATGGAGTGGGGTGGGATGGAGTAGAATGGGGTGGGGT GGGATGGGATGGGATGGAGTGGGGTGGGATGGGATGGGATGGAGTGGGGT GGGATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0235 a0002c0002t0001g0235	1	320	0.0031	105	c.445 others(122): Show c.4452+150_4453-228dupTATCCCACCCCACTCCATCCCATCCCAT CCCACCCCACTCCATCCCATCCCATCCCACCCCACCCCATTCTACTCCAT CCCACCCCACTCCATCCCATCCCACCC	CFAP65	ENSG00000181378.14	transcript	ENST00000341552.10	protein_coding	27/34			chr2	TogoVar
CFAP74_chr1_1916957_2008786	1924216	G G	GCTCACAC others(98): Show GCTCACACGACCACCCCCCAGCTCACAGCCCACCCCACCATCTCACGCCC AGCCCCCCCCATCTCACCAGCTGCCCCCCTCCCCGGCACACCGCCCACCC CCCCAT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0040 a0040	a0040c0038 a0040c0038	a0040c0038t0003 a0040c0038t0003	a0040c0038t0003g0251 a0040c0038t0003g0251	1	276	0.0036	105	c.423 others(122): Show c.4234+174_4234+175insATGGGGGGGTGGGCGGTGTGCCGGGGAG GGGGGCAGCTGGTGAGATGGGGGGGGCTGGGCGTGAGATGGTGGGGTGGG CTGTGAGCTGGGGGGTGGTCGTGTGAG	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	34/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1981798	G G	GCGGGGGC others(98): Show GCGGGGGCACGCAGGACACCCAGCCGCGGTCACACGCGGGGGCACGCAGG ACACCCAACCGCGGACAGACACGGGGGCACGCAGGACACCCAGCCGCGGA CAGACA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0247 a0002c0001t0001g0247	1	188	0.0053	105	c.500 others(122): Show c.500+3587_500+3588insTGTCTGTCCGCGGCTGGGTGTCCTGCGT GCCCCCGTGTCTGTCCGCGGTTGGGTGTCCTGCGTGCCCCCGCGTGTGAC CGCGGCTGGGTGTCCTGCGTGCCCCCG	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	6/38			chr1	TogoVar
CFI_chr4_109735695_109806999	109756918	A A	AAAGAAAG others(98): Show AAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0312 a0002c0003t0001g0312	1	351	0.0028	105	c.904 others(120): Show c.904+844_904+845insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTCTTTCTTTCTTTCTT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CHCHD6_chr3_126699240_126965420	126865068	T T	TCCACCAC others(98): Show TCCACCACCTCCACTTCTTCCTCCTCCTCCTCCACCACCACCTCCACTTC TTCCTCCTCCTCCTCCACCACCACCTCCACTTCTTCCTCCTCCTCCTCCT CCTCCA	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18998.hp2 HG01081.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0182 a0001c0001t0001g0145 a0001c0001t0001g0182	2	122	0.0164	105	c.495 others(124): Show c.495+12403_495+12404insACCACCACCTCCACTTCTTCCTCCTC CTCCTCCTCCTCCACCACCACCTCCACTTCTTCCTCCTCCTCCTCCACCA CCACCTCCACTTCTTCCTCCTCCTCCTCC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHFR_chr12_132827356_132892605	132835932	A A	ACAGGCTC others(98): Show ACAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCCAGGCTCCCAGCAC GGCGCACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCA CAGTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0054 a0005c0009t0054	a0005c0009t0054g0108 a0005c0009t0054g0108	1	346	0.0029	105	c.56 others(116): Show c.5621_*5622insGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCT GGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGCC GTGCGCCGTGCTGGGAGCCTG	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5621		chr12	TogoVar
CHFR_chr12_132827356_132892605	132836132	A A	ACTCACAG others(98): Show ACTCACAGTGCCAGGCTCCCAGCACGGCGCACGGCCCTCACAGTGCCAGG CTCCCAGCACGGCGCACGGCCCTCACAGTGACAGGCTCCCAGCACGGCGC ACGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0143 a0001c0001t0143	a0001c0001t0143g0309 a0001c0001t0143g0309	1	342	0.0029	105	c.54 others(116): Show c.5421_*5422insGGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGA GGGCCGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGGGCCGTGCGCCGTG CTGGGAGCCTGGCACTGTGAG	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5421		chr12	TogoVar
CHFR_chr12_132827356_132892605	132836156	C C	CGGCGCAC others(98): Show CGGCGCACGGCCCTCACAGTGACAGGCTCCCAGCACGGCGCACGGCCCTC ACAGTGACAGGCTCCCAGCACGGCGCACGGCCCTCACAGTGACAGGCTCC CAGCAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0067 a0001c0001t0090g0067	1	356	0.0028	105	c.53 others(116): Show c.5397_*5398insCTGCTGGGAGCCTGTCACTGTGAGGGCCGTGCGC CGTGCTGGGAGCCTGTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCTG TCACTGTGAGGGCCGTGCGCC	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5397		chr12	TogoVar
CHFR_chr12_132827356_132892605	132836247	C C	CCAGGCTC others(98): Show CCAGGCTCCCAGCACGGCGCACGGCCCTCACAGTGACAGGCTCCCAGCAC GGCGCACGGCCCTCACAGTGACAGGCTCCCAGCACGGCGCACGGCCCTCA CAGTGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0053 a0005c0009t0053	a0005c0009t0053g0120 a0005c0009t0053g0120	1	328	0.0030	105	c.53 others(116): Show c.5306_*5307insTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCT GTCACTGTGAGGGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAGGGCC GTGCGCCGTGCTGGGAGCCTG	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5306		chr12	TogoVar
CHFR_chr12_132827356_132892605	132836482	A A	ACTCACAG others(98): Show ACTCACAGTGACAGGCTCCCAGCACGGCGCACGGCACTCACAGTGACAGG CTCCCAGCACGGCGCACGGCACTCACAGTGACAGGCTCCCAGCACGGCGC TCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp2 HG01175.hp2 HG01433.hp1 others(18): Show HG01109.hp2 HG01175.hp2 HG01433.hp1 HG01934.hp2 HG02129.hp1 HG02145.hp1 HG02698.hp1 HG02809.hp2 HG03041.hp1 HG03453.hp1 HG03540.hp1 NA18906.hp1 NA18954.hp2 NA18962.hp1 NA18968.hp1 NA19000.hp1 NA19055.hp2 NA19063.hp1 NA19084.hp1 NA19091.hp2 NA19240.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0004c0006 a0002c0002 a0003c0003 a0004c0006	a0002c0002t0047 a0002c0002t0048 a0002c0002t0130 others(9): Show a0002c0002t0047 a0002c0002t0048 a0002c0002t0130 a0002c0002t0131 a0002c0002t0140 a0003c0003t0020 a0003c0003t0067 a0003c0003t0068 a0004c0006t0031 a0004c0006t0032 a0004c0006t0132 a0004c0006t0133	a0002c0002t0047g0046 a0002c0002t0047g0049 a0002c0002t0048g0048 others(18): Show a0002c0002t0047g0046 a0002c0002t0047g0049 a0002c0002t0048g0048 a0002c0002t0048g0050 a0002c0002t0130g0053 a0002c0002t0131g0047 a0002c0002t0140g0070 a0003c0003t0020g0317 a0003c0003t0020g0318 a0003c0003t0020g0320 a0003c0003t0020g0321 a0003c0003t0067g0319 a0003c0003t0068g0316 a0004c0006t0031g0163 a0004c0006t0031g0164 a0004c0006t0031g0165 a0004c0006t0032g0158 a0004c0006t0032g0161 a0004c0006t0032g0162 a0004c0006t0132g0159 a0004c0006t0133g0166	21	287	0.0732	105	c.50 others(116): Show c.5071_*5072insGGCCGAGCGCCGTGCTGGGAGCCTGTCACTGTGA GTGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAGTGCCGTGCGCCGTG CTGGGAGCCTGTCACTGTGAG	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5071		chr12	TogoVar
CHFR_chr12_132827356_132892605	132836482	A A	ACTCACAG others(98): Show ACTCACAGTGACAGGCTCCCAGCACGGCGCACGGCACTCACAGTGACAGG CTCCCAGCACGGCGCTCGGCACTCACAGTGACAGGCTCCCAGCACGGCGC TCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0123 a0002c0002t0123	a0002c0002t0123g0068 a0002c0002t0123g0068	1	267	0.0037	105	c.50 others(116): Show c.5071_*5072insGGCCGAGCGCCGTGCTGGGAGCCTGTCACTGTGA GTGCCGAGCGCCGTGCTGGGAGCCTGTCACTGTGAGTGCCGTGCGCCGTG CTGGGAGCCTGTCACTGTGAG	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5071		chr12	TogoVar
CHFR_chr12_132827356_132892605	132836482	A A	ACTCACAG others(98): Show ACTCACAGTGACAGGCTCCCAGCAGGGCGCACGGCACTCACAGTGACAGG CTCCCAGCACGCCGCACGGCACTCACAGTGACAGGCTCCCAGCACGGCGC TCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0134 a0002c0002t0134	a0002c0002t0134g0082 a0002c0002t0134g0082	1	267	0.0037	105	c.50 others(116): Show c.5071_*5072insGGCCGAGCGCCGTGCTGGGAGCCTGTCACTGTGA GTGCCGTGCGGCGTGCTGGGAGCCTGTCACTGTGAGTGCCGTGCGCCCTG CTGGGAGCCTGTCACTGTGAG	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5071		chr12	TogoVar
CHFR_chr12_132827356_132892605	132836482	A A	ACTCACAG others(98): Show ACTCACAGTGACAGGCTCCCAGCAGGGCGCACGGCACTCACAGTGACAGG CTCCCAGCACGGCGCACGGCACTCACAGTGACAGGCTCCCAGCACGGCGC TCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp2 others(73): Show HG00099.hp1 HG00099.hp2 HG00423.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01123.hp2 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01515.hp1 HG01517.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG02015.hp2 HG02055.hp1 HG02109.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02602.hp2 HG02647.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03017.hp1 HG03130.hp2 HG03486.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 NA18747.hp1 NA18939.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18950.hp1 NA18960.hp1 NA18970.hp2 NA18973.hp1 NA18975.hp1 NA18984.hp1 NA18999.hp2 NA19002.hp1 NA19005.hp1 NA19009.hp1 NA19012.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19066.hp2 NA19083.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0002c0007 a0002c0011 others(2): Show a0002c0002 a0002c0007 a0002c0011 a0002c0013 a0006c0014	a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 others(20): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0028 a0002c0002t0029 a0002c0002t0030 a0002c0002t0045 a0002c0002t0046 a0002c0002t0118 a0002c0002t0119 a0002c0002t0120 a0002c0002t0121 a0002c0002t0124 a0002c0002t0126 a0002c0002t0127 a0002c0002t0128 a0002c0002t0137 a0002c0002t0138 a0002c0002t0139 a0002c0007t0002 a0002c0011t0122 a0002c0013t0005 a0006c0014t0002	a0002c0002t0002g0012 a0002c0002t0002g0051 a0002c0002t0002g0052 others(68): Show a0002c0002t0002g0012 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0054 a0002c0002t0002g0056 a0002c0002t0002g0059 a0002c0002t0002g0064 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0090 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0102 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0115 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0124 a0002c0002t0004g0010 a0002c0002t0004g0058 a0002c0002t0004g0072 a0002c0002t0004g0088 a0002c0002t0004g0098 a0002c0002t0004g0100 a0002c0002t0004g0110 a0002c0002t0004g0112 a0002c0002t0004g0113 a0002c0002t0004g0122 a0002c0002t0004g0167 a0002c0002t0004g0169 a0002c0002t0005g0009 a0002c0002t0005g0073 a0002c0002t0005g0084 a0002c0002t0005g0085 a0002c0002t0005g0087 a0002c0002t0005g0091 a0002c0002t0005g0097 a0002c0002t0005g0101 a0002c0002t0005g0109 a0002c0002t0005g0114 a0002c0002t0005g0116 a0002c0002t0028g0008 a0002c0002t0028g0060 a0002c0002t0029g0074 a0002c0002t0029g0094 a0002c0002t0029g0168 a0002c0002t0030g0103 a0002c0002t0030g0104 a0002c0002t0030g0105 a0002c0002t0045g0079 a0002c0002t0045g0080 a0002c0002t0046g0013 a0002c0002t0118g0089 a0002c0002t0119g0063 a0002c0002t0120g0061 a0002c0002t0121g0111 a0002c0002t0124g0119 a0002c0002t0126g0057 a0002c0002t0127g0121 a0002c0002t0128g0092 a0002c0002t0137g0065 a0002c0002t0138g0093 a0002c0002t0139g0081 a0002c0007t0002g0066 a0002c0007t0002g0071 a0002c0011t0122g0062 a0002c0013t0005g0123 a0006c0014t0002g0055	76	342	0.2222	105	c.50 others(116): Show c.5071_*5072insGGCCGAGCGCCGTGCTGGGAGCCTGTCACTGTGA GTGCCGTGCGCCGTGCTGGGAGCCTGTCACTGTGAGTGCCGTGCGCCCTG CTGGGAGCCTGTCACTGTGAG	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5071		chr12	TogoVar
CHMP7_chr8_23238637_23266999	23262617	C C	CCTGAATA others(98): Show CCTGAATAAAGGACCTGATGAGAAGGGCGAGGGACTGGAGCTCACAGGCC CTGCGGAAGAGGGCAACCGCTCTTCCATTCCTTCTGCTGGAAGGAAGTGG CCTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	436	0.0023	105	c.20 others(116): Show c.2018_*2019insCTGAATAAAGGACCTGATGAGAAGGGCGAGGGAC TGGAGCTCACAGGCCCTGCGGAAGAGGGCAACCGCTCTTCCATTCCTTCT GCTGGAAGGAAGTGGCCTGGA	CHMP7	ENSG00000147457.14	transcript	ENST00000397677.6	protein_coding		619		chr8	TogoVar
CHRM2_chr7_136863652_137025213	136867924	G G	GATATATA others(98): Show GATATATATATCCTGGACATATATATATATATATATATATATATTCTGGA TATATATATCCTGGACATATATATATATATATTCTGGATATATATATATT CTGGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0052 a0001c0001t0014g0052	1	258	0.0039	105	c.-13 others(116): Show c.-1351_-1350insATATATATATCCTGGACATATATATATATATATA TATATATATTCTGGATATATATATCCTGGACATATATATATATATATTCT GGATATATATATATTCTGGAT	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding		727		chr7	TogoVar
CHST15_chr10_124002668_124098598	124044115	A A	AGGAACGG others(98): Show AGGAACGGCACAGAGCAGAGGACCGGCACAGAGCAGGAAACGGCACAGAG CTTGGGAGCGGCACAGAGCTTGGGAGCGGCACAGAGCTGGGAGCGGCACA GAGCAG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0002 a0006c0020t0002	a0006c0020t0002g0246 a0006c0020t0002g0246	1	390	0.0026	105	c.886 others(120): Show c.886+360_886+464dupCTGCTCTGTGCCGCTCCCAGCTCTGTGCCG CTCCCAAGCTCTGTGCCGCTCCCAAGCTCTGTGCCGTTTCCTGCTCTGTG CCGGTCCTCTGCTCTGTGCCGTTCC	CHST15	ENSG00000182022.18	transcript	ENST00000435907.6	protein_coding	3/7			chr10	TogoVar
CHST8_chr19_33616953_33778506	33760264	G G	GCCCTTTC others(98): Show GCCCTTTCTTCCCTCCCTCTCTCCTTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCTCTCTTTCTTTCTCTTTCTTTCCCTTTCCTCCCCTCCCTCC CTCCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(95): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00738.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01516.hp1 HG01934.hp2 HG01943.hp1 HG01981.hp2 HG02015.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02735.hp2 HG02895.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG04115.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18944.hp1 NA18954.hp2 NA18962.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18983.hp1 NA18990.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19060.hp1 NA19060.hp2 NA19070.hp2 NA19088.hp1 NA20129.hp2 NA20805.hp1 NA21309.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0004 a0005c0007 a0001c0001 a0004c0004 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0004c0004t0001 a0005c0007t0001	a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0032 others(95): Show a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0182 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0219 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0002g0011 a0001c0001t0002g0044 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0175 a0001c0001t0003g0184 a0001c0001t0004g0001 a0001c0001t0004g0003 a0001c0001t0004g0007 a0001c0001t0004g0010 a0001c0001t0005g0080 a0001c0001t0005g0082 a0001c0001t0008g0117 a0001c0001t0011g0004 a0004c0004t0001g0086 a0005c0007t0001g0227	98	107	0.9159	105	c.131 others(124): Show c.131-11144_131-11143insTCTTCCCTCCCTCTCTCCTTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCTTTCTTTCTCTTTCTTTCC CTTTCCTCCCCTCCCTCCCTCCCTCCCTT	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCCCCCC others(98): Show GCCCCCCCCGTGCTGCCCGTGTGGCTGTCCCCTCCCCCGTGCCCCCCCCG TGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCCGCCCCGCCCCTC CCCTCC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0020 a0020	a0020c0018 a0020c0018	a0020c0018t0001 a0020c0018t0001	a0020c0018t0001g0031 a0020c0018t0001g0031	1	246	0.0041	105	c.217 others(122): Show c.2176-102_2176-101insCCCCCGTGCTGCCCGTGTGGCTGTCCCC TCCCCCGTGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGC CGCCCCGCCCCGCCCCTCCCCTCCCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLPTM1L_chr5_1312752_1350099	1333024	C C	CGGATAAG others(98): Show CGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGAC TACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTATACACACC GGATGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp2 HG01168.hp2 others(3): Show HG00639.hp2 HG00738.hp2 HG01168.hp2 HG01261.hp2 HG01346.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0136 others(1): Show a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0136 a0001c0001t0001g0137	6	364	0.0165	105	c.892 others(122): Show c.892-1142_892-1141insTCATCCGGTGTGTATACAGTAGTCCCCC CTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGG TGTGTATACAGTAGTCCCCCCTTATCC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1333420	G G	GGATGAGG others(98): Show GGATGAGGATAAGGGGGGACTACTGTATACACATTGGATGAGGATAAGGG GGGACTATTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATAC ACACCA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG03834.hp1 HG02004.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0200 a0001c0001t0001g0156 a0001c0001t0001g0200	2	367	0.0054	105	c.891 others(120): Show c.891+764_891+868dupTGGTGTGTATACAGTAGTCCCCCCTTATCC TCATCTGGTGTGTATACAATAGTCCCCCCTTATCCTCATCCAATGTGTAT ACAGTAGTCCCCCCTTATCCTCATC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1333525	A A	AGATGAGG others(98): Show AGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGG GGGACTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATAC ACACGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp2 HG03491.hp2 others(2): Show HG00280.hp2 HG00741.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0172 a0001c0001t0001g0173 others(1): Show a0001c0001t0001g0032 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174	5	339	0.0147	105	c.891 others(120): Show c.891+763_891+764insCCGTGTGTATACAGTAGTCCCCCCTTATCC TCATCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTAT ACAGTAGTCCCCCCTTATCCTCATC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1333769	T T	TGAGGATA others(98): Show TGAGGATAAGGGGGGACTACTGTATACACACCAGATGAGGATAAGGGGGG ACTACTGTAGACACACCGGATGAGGACAAGCGGGAACTACTGTATACACA CCGGAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01243.hp2 HG01515.hp1 others(11): Show HG00280.hp1 HG01243.hp2 HG01515.hp1 HG02055.hp1 HG02258.hp2 HG02559.hp2 HG02630.hp1 HG02818.hp1 HG02896.hp2 HG02965.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0191 a0001c0001t0002g0194 others(10): Show a0001c0001t0002g0039 a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0002g0203 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0250	14	340	0.0412	105	c.891 others(120): Show c.891+519_891+520insTTCCGGTGTGTATACAGTAGTTCCCGCTTG TCCTCATCCGGTGTGTCTACAGTAGTCCCCCCTTATCCTCATCTGGTGTG TATACAGTAGTCCCCCCTTATCCTC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CNOT3_chr19_54132762_54160681	54133769	C C	CTCTTCCT others(98): Show CTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTT CCCTGTCTCCACCTCCCCTCCCTCTGTCCTCCCTCTCTCCACCTCCCCTC TCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	196	0.0051	105	c.-42 others(116): Show c.-4275_-4274insTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCT CCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCTCCCTC TCTCCACCTCCCCTCTCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3992		chr19	TogoVar
CNOT3_chr19_54132762_54160681	54133953	C C	CCTCCCTC others(98): Show CCTCCCTCCCTCTCCCACCTTCCCTCTCTCCACCTCCCCTCCCTCTCTCC ACCTCCCCTCTCTCCCTCCCTCCCTCTCCACCCTTCCCTCTCTCCACCTC CCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	182	0.0055	105	c.-40 others(116): Show c.-4091_-4090insCTCCCTCCCTCTCCCACCTTCCCTCTCTCCACCT CCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCCCTCTCCACCCTT CCCTCTCTCCACCTCCCCTCT	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3808		chr19	TogoVar
CNR2_chr1_23865515_23918362	23899854	A A	AGAAAGAA others(98): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	248	0.0040	105	c.-46 others(124): Show c.-46+13391_-46+13392insCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTC	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNR2_chr1_23865515_23918362	23899854	A A	AGAAAGAA others(98): Show AGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	248	0.0040	105	c.-46 others(124): Show c.-46+13391_-46+13392insCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTTCTTTCTTTCTTTCTTTC	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNR2_chr1_23865515_23918362	23899907	G G	GGAAGGAA others(98): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAAGAAGGAAAGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AAGAAA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	40	0.0250	105	c.-46 others(124): Show c.-46+13338_-46+13339insTTTCTTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTC	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
COL22A1_chr8_138583235_138919041	138743351	T T	TTGATGGT others(98): Show TTGATGGTGATGGTGATGGTAGAGTTGATGATGGTAGTAGTGATTGTGAT GGTGGAGTTGATGGTGATGGTGGTAGTGACTGTGATGGTGATGGTGGAGT TGATGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01081.hp1 HG01261.hp1 others(33): Show HG00280.hp2 HG01081.hp1 HG01261.hp1 HG01981.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02970.hp2 HG03041.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03540.hp2 HG03688.hp2 NA18906.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0009 a0015	a0001c0002 a0001c0006 a0001c0008 others(21): Show a0001c0002 a0001c0006 a0001c0008 a0001c0010 a0001c0012 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0026 a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0009 a0002c0023 a0002c0025 a0003c0013 a0003c0020 a0003c0031 a0004c0019 a0004c0041 a0009c0039 a0015c0055	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(30): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0006t0002 a0001c0008t0001 a0001c0008t0002 a0001c0010t0001 a0001c0012t0010 a0001c0014t0004 a0001c0014t0011 a0001c0015t0001 a0001c0016t0001 a0001c0017t0005 a0001c0026t0001 a0002c0003t0001 a0002c0003t0007 a0002c0004t0002 a0002c0004t0004 a0002c0004t0008 a0002c0005t0002 a0002c0005t0009 a0002c0007t0008 a0002c0009t0002 a0002c0023t0001 a0002c0025t0003 a0003c0013t0003 a0003c0020t0007 a0003c0031t0004 a0004c0019t0001 a0004c0041t0002 a0009c0039t0001 a0015c0055t0005	a0001c0002t0001g0070 a0001c0002t0002g0027 a0001c0002t0002g0044 others(33): Show a0001c0002t0001g0070 a0001c0002t0002g0027 a0001c0002t0002g0044 a0001c0002t0003g0009 a0001c0002t0005g0147 a0001c0006t0002g0065 a0001c0008t0001g0042 a0001c0008t0002g0030 a0001c0010t0001g0109 a0001c0012t0010g0011 a0001c0014t0004g0019 a0001c0014t0011g0089 a0001c0015t0001g0073 a0001c0016t0001g0087 a0001c0017t0005g0151 a0001c0026t0001g0063 a0002c0003t0001g0098 a0002c0003t0007g0157 a0002c0004t0002g0097 a0002c0004t0004g0084 a0002c0004t0008g0022 a0002c0004t0008g0100 a0002c0005t0002g0048 a0002c0005t0002g0086 a0002c0005t0009g0136 a0002c0007t0008g0028 a0002c0009t0002g0095 a0002c0023t0001g0037 a0002c0025t0003g0013 a0003c0013t0003g0001 a0003c0020t0007g0152 a0003c0031t0004g0032 a0004c0019t0001g0131 a0004c0041t0002g0043 a0009c0039t0001g0135 a0015c0055t0005g0150	36	156	0.2308	105	c.208 others(124): Show c.2086-5775_2086-5774insCCATCAACTCCACCATCACCATCACA GTCACTACCACCATCACCATCAACTCCACCATCACAATCACTACTACCAT CATCAACTCTACCATCACCATCACCATCA	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	22/64			chr8	TogoVar
COL3A1_chr2_188969373_189017746	188997014	T T	TATATATA others(98): Show TATATATATATGAGACATATATATATGAGACATATATATATGAGACATAT ATATATGAGACATATATATATGAGACATATATATATGAGACATATATATA TGAGAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03486.hp1 HG03225.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0052 a0001c0001t0001g0053	2	39	0.0513	105	c.176 others(120): Show c.1762-60_1762-59insTATATATATGAGACATATATATATGAGACA TATATATATGAGACATATATATATGAGACATATATATATGAGACATATAT ATATGAGACATATATATATGAGACA	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	24/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A2_chr13_110302284_110518209	110355747	G G	GGGGAGGG others(98): Show GGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGGAGGGCTGCAGTA GCTCACCTGTGTGTGTGGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGT GGGGGT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0005 a0003c0007t0005	a0003c0007t0005g0169 a0003c0007t0005g0169	1	319	0.0031	105	c.100 others(122): Show c.100-1723_100-1722insGAGGGCTGCACTAGCTCACCTGTGTGTG TGGGGGGAGGGCTGCAGTAGCTCACCTGTGTGTGTGGGGGGAGGGCTGCA CTAGCTCACCTGTGTGTGTGGGGGTGG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355747	G G	GGGGAGGG others(98): Show GGGGAGGGCTGCAGTAGCTCACCTGTGTGTGTGGGGGGAGGGCTGCAGTA GCTCACCTGTGTGTGTGGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGT GGGGGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0020 a0003c0007t0020	a0003c0007t0020g0120 a0003c0007t0020g0120	1	319	0.0031	105	c.100 others(122): Show c.100-1723_100-1722insGAGGGCTGCAGTAGCTCACCTGTGTGTG TGGGGGGAGGGCTGCAGTAGCTCACCTGTGTGTGTGGGGGGAGGGCTGCA CTAGCTCACCTGTGTGTGTGGGGGTGG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL5A1_chr9_134636803_134849843	134679639	G G	GGGGCACT others(98): Show GGGGCACTGCGGGGCTGGTTAGGGGGCACTTCAGGGCTGGTTGGGGGCAC TGCGGGGCTTCTTAGGGGGCACTGCGGGGCTGGTTGGGGGCACTGTGGGG CTGGTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00423.hp2 others(27): Show HG00099.hp1 HG00408.hp2 HG00423.hp2 HG00609.hp1 HG01074.hp2 HG01257.hp1 HG01433.hp1 HG01934.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02129.hp1 HG02145.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02486.hp1 HG02602.hp1 HG02735.hp2 HG03098.hp2 HG03710.hp1 NA18943.hp1 NA18950.hp2 NA18971.hp2 NA18986.hp1 NA19005.hp2 NA19009.hp2 NA19064.hp2 NA19070.hp2 NA20805.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0015 a0001c0027 a0001c0036 a0002c0017 a0007c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0037 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0016 a0001c0003t0001 a0001c0003t0036 a0001c0004t0002 a0001c0004t0033 a0001c0015t0002 a0001c0027t0001 a0001c0036t0035 a0002c0017t0003 a0007c0037t0001	a0001c0001t0001g0041 a0001c0001t0002g0111 a0001c0001t0002g0122 others(27): Show a0001c0001t0001g0041 a0001c0001t0002g0111 a0001c0001t0002g0122 a0001c0001t0002g0220 a0001c0001t0003g0133 a0001c0001t0005g0056 a0001c0001t0005g0119 a0001c0001t0037g0054 a0001c0002t0001g0051 a0001c0002t0001g0059 a0001c0002t0001g0221 a0001c0002t0001g0252 a0001c0002t0002g0057 a0001c0002t0002g0124 a0001c0002t0002g0171 a0001c0002t0005g0050 a0001c0002t0005g0117 a0001c0002t0016g0237 a0001c0003t0001g0123 a0001c0003t0001g0222 a0001c0003t0036g0052 a0001c0004t0002g0046 a0001c0004t0002g0053 a0001c0004t0002g0132 a0001c0004t0033g0131 a0001c0015t0002g0055 a0001c0027t0001g0130 a0001c0036t0035g0045 a0002c0017t0003g0118 a0007c0037t0001g0058	30	267	0.1124	105	c.110 others(124): Show c.110-11254_110-11253insAGGGGGCACTTCAGGGCTGGTTGGGG GCACTGCGGGGCTTCTTAGGGGGCACTGCGGGGCTGGTTGGGGGCACTGT GGGGCTGGTTGGGCACTGCGGGGCTGGTT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar

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