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
ASMTL_chrX_1398139_1457909	1409699	C C	CCAGGAGG others(98): Show CCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCAACACTGCCGTCCAGC CAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCT TGAGCG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0101 a0001c0035t0001g0101	1	174	0.0057	105	c.164 others(124): Show c.1645+3032_1645+3033insCGCTCAAGCGATCCTCCTGCCTCAGC CTCCCGAGTATTTGGGAGTACCAGCATTTGGCTGGACGGCAGTGTTGCCA TCATAGTTCACTGCAGCCTTGACCTCCTG	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1410224	C C	CCAGGAGG others(98): Show CCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCAACACTGCCGTCCAGC CAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCT TGAGCG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0101 a0001c0035t0001g0101	1	156	0.0064	105	c.164 others(124): Show c.1645+2507_1645+2508insCGCTCAAGCGATCCTCCTGCCTCAGC CTCCCGAGTATTTGGGAGTACCAGCATTTGGCTGGACGGCAGTGTTGCCA TCATAGTTCACTGCAGCCTTGACCTCCTG	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1410256	A A	ACAACACT others(98): Show ACAACACTGCAGTCCAGCCAAATGCTGCTACTCCCAAATACTCGGGAGGC TGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTA TGATGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02896.hp2 HG00741.hp1 HG02896.hp2	a0001 a0001	a0001c0010 a0001c0037 a0001c0010 a0001c0037	a0001c0010t0001 a0001c0037t0001 a0001c0010t0001 a0001c0037t0001	a0001c0010t0001g0015 a0001c0037t0001g0005 a0001c0010t0001g0015 a0001c0037t0001g0005	2	174	0.0115	105	c.164 others(124): Show c.1645+2475_1645+2476insCCATCATAGTTCACTGCAGCCTTGAC CTCCTGGGCTCAAGCGATCCTCCTGCCTCAGCCTCCCGAGTATTTGGGAG TAGCAGCATTTGGCTGGACTGCAGTGTTG	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
ASPRV1_chr2_69955089_69966631	69956451	G G	GGAAGAAG others(98): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG03688.hp1 HG02083.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	2	289	0.0069	105	c.42 others(116): Show c.4205_*4206insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTC	ASPRV1	ENSG00000244617.3	transcript	ENST00000320256.6	protein_coding		3637		chr2	TogoVar
ASTN2_chr9_116418112_117420057	117094106	A A	AGGAGGGA others(98): Show AGGAGGGAGAGAGGGAGGGAGGGAGGGAGAAAGGGAGGAAGGGAGGAAGG AAGGGAGGGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAAAGGAAAGAGGG AAGAAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0003 a0002c0004t0006g0003	1	98	0.0102	105	c.127 others(124): Show c.1276+1937_1276+1938insCTTCTTCCCTCTTTCCTTTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCCCTCCCTTCCTTCCTCCCTTCCTCCCTT TCTCCCTCCCTCCCTCCCTCTCTCCCTCC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAG others(98): Show ATATATAGTATATATATATATATATATAGTTTATATATATATAGTTTATA TATATAAACTATATATATATAAACTATATATATATATATACTATATATAT ATATAT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0001 a0001c0001t0021g0001	1	164	0.0061	105	c.331 others(124): Show c.3314-1170_3314-1169insATATATATATATATAGTATATATATA TATATAGTTTATATATATATAGTTTATATATATAAACTATATATATATAA ACTATATATATATATATATATACTATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP13A5_chr3_193269789_193383753	193362759	T T	TTCCTTCT others(98): Show TTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTTTCTTCTCTCTCTT TCTTTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTC TTTCTC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0203 a0005c0005t0002g0203	1	265	0.0038	105	c.385 others(120): Show c.385-123_385-122insGAGAAAGAAAGAGAGAAAGAAAGAGAGAAA GAAAGAGAGAAAGAAAGAGAGAAAGAAAGAGAGAGAAGAAAGAGAGAAAG AAAGAAAGAAAGAAAGAAAGAAGGA	ATP13A5	ENSG00000187527.12	transcript	ENST00000342358.9	protein_coding	3/29			chr3	TogoVar
ATP8A2_chr13_25366974_26030851	25609539	T T	TCAAATAT others(98): Show TCAAATATATATATATATATTTGGGATTCAAATATATATATATATATTTG GATCCAAATATATATATATATATTTGAATTCAAATATATATATATATATT TGGATC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0119 a0001c0002t0006g0119	1	120	0.0083	105	c.221 others(126): Show c.2211+19863_2211+19864insGATTCAAATATATATATATATATT TGGATCCAAATATATATATATATATTTGAATTCAAATATATATATATATA TTTGGATCCAAATATATATATATATATTTGG	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATXN3_chr14_92053552_92111582	92060270	A A	ATATATAT others(98): Show ATATATATATATATATACACACACATATATATATATATATATATATATAT ATACACACATATATATATATATATATATACACACATATATATATATATAT ATTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0003 a0003	a0003c0026 a0003c0026	a0003c0026t0017 a0003c0026t0017	a0003c0026t0017g0020 a0003c0026t0017g0020	1	112	0.0089	105	c.40 others(116): Show c.4049_*4050insAAAAATATATATATATATATATGTGTGTATATAT ATATATATATATATGTGTGTATATATATATATATATATATATATATATGT GTGTGTATATATATATATATA	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	11/11	4049		chr14	TogoVar
B4GALNT3_chr12_454939_568509	511939	T T	TCCACCTT others(98): Show TCCACCTTCGACCTTCTTCCACCTTCGACCTTCCACCTTCCACCTTCTTC CACCTTCGAGCTTCCACCTTCCGCCTTCTGCCTTCCACCTTCCACCTTCC TTCCAC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18984.hp2 NA18612.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0351 a0001c0001t0003g0350 a0001c0001t0001g0351 a0001c0001t0003g0350	2	392	0.0051	105	c.170 others(124): Show c.170-23226_170-23225insCACCTTCGACCTTCTTCCACCTTCGA CCTTCCACCTTCCACCTTCTTCCACCTTCGAGCTTCCACCTTCCGCCTTC TGCCTTCCACCTTCCACCTTCCTTCCACC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	374842	G G	GAGGGAGG others(98): Show GAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGGGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0158 a0007c0011t0001g0158	1	136	0.0074	105	c.784 others(120): Show c.784-612_784-611insAGGAAGGGAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375001	G G	GAGGGAGG others(98): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGA GGAGGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03579.hp2 HG02723.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0073 a0002c0002t0001g0080 a0002c0002t0001g0073 a0002c0002t0001g0080	2	124	0.0161	105	c.784 others(120): Show c.784-453_784-452insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375001	G G	GAGGGAGG others(98): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0074	1	123	0.0081	105	c.784 others(120): Show c.784-453_784-452insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BCAP29_chr7_107575246_107625478	107599227	T T	TTATATAT others(98): Show TTATATATATTTATATATAAATATATATAATTTTTATATATATATTTATA TATAAATATATATAATTTATATATATATATTTATATATAAATATATATAA TTTTTA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0209 a0001c0001t0003g0209	1	134	0.0075	105	c.481 others(122): Show c.481-1116_481-1115insATATATATAATTTATATATATATATTTA TATATAAATATATATAATTTTTATATATATATTTATATATAAATATATAT AATTTTTATATATATATTTATATATAA	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107599227	T T	TTATATAT others(98): Show TTATATATATTTATATATAAATATATATAATTTTTATATATATATTTATA TATAAATATATATAATTTTTATATATATATTTATATATAAATATATATAA TTTTTA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02027.hp1 HG02027.hp2 others(38): Show HG00423.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02083.hp1 HG02922.hp2 HG02965.hp1 HG03225.hp1 HG03453.hp2 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 NA18522.hp2 NA18612.hp1 NA18953.hp2 NA18956.hp2 NA18960.hp1 NA18965.hp2 NA18971.hp1 NA18972.hp2 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18988.hp1 NA18990.hp2 NA18998.hp1 NA19001.hp1 NA19006.hp1 NA19054.hp1 NA19055.hp2 NA19067.hp2 NA19072.hp1 NA19082.hp1 NA19085.hp1 NA19088.hp2 NA19090.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(34): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0245 a0001c0001t0003g0199 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0349	41	174	0.2356	105	c.481 others(122): Show c.481-1116_481-1115insATATATATAATTTTTATATATATATTTA TATATAAATATATATAATTTTTATATATATATTTATATATAAATATATAT AATTTTTATATATATATTTATATATAA	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107599260	T T	TTATATAT others(98): Show TTATATATATATTTATATATAAATATATATAATTTTTATATATATATTTA TATATAAATATATATAATTTTTATATATATATTTATATATAAATATATAT AATTTA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18989.hp1 NA19091.hp1 NA18963.hp1 NA18989.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0097 a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0097	3	369	0.0081	105	c.481 others(122): Show c.481-1116_481-1115insATATATATAATTTTTATATATATATTTA TATATAAATATATATAATTTTTATATATATATTTATATATAAATATATAT AATTTATATATATATATTTATATATAA	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAS3_chr17_60672851_61397831	61045884	T T	TATATAAA others(98): Show TATATAAATATATATTTATATATATTATATATATATATTATATATATAAA TATATATATTATATATATATTATATATATATAATATATATATTTATATAT ATATAA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0048 a0002c0003t0002g0048	1	61	0.0164	105	c.202 others(124): Show c.2029+4992_2029+4993insATATAAATATATATTTATATATATTA TATATATATATTATATATATAAATATATATATTATATATATATTATATAT ATATAATATATATATTTATATATATATAA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23			chr17	TogoVar
BCL11A_chr2_60452194_60558654	60467159	G G	GTGGTGGT others(98): Show GTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGATGGTGGT GGTAGTGGTGGTGTTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGG TGGTAC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0083 a0001c0001t0004g0083	1	258	0.0039	105	c.487 others(122): Show c.487+1572_487+1573insGTACCACCACCATCACCACCACCACCAC CACCATCACCACCAACACCACCACTACCACCACCATCATCACCACCATCA CCACCACCACCACCACCATCACCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467531	A A	ATGGTGGT others(98): Show ATGGTGGTGGTGGTGGTGATGGTGGTGATGGTACTGGTGGTGATGGTACT GGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGATGC TACTGG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0137 a0001c0001t0042g0137	1	169	0.0059	105	c.487 others(122): Show c.487+1200_487+1201insCCAGTAGCATCACCACCACCACCACCAT CACCATCACCACCACCACCATCACCACCAGTACCATCACCACCAGTACCA TCACCACCATCACCACCACCACCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BDH1_chr3_197504783_197560968	197517779	C C	CATCAGTC others(98): Show CATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCTTCAGGCCGACCCC CCCATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCCTCAGGCCAACC CCCCCG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0051 a0001c0001t0051g0051	1	290	0.0034	105	c.410 others(122): Show c.410-3364_410-3363insCGGGGGGGTTGGCCTGAGGGGGGATGGA GACCATAGAGCAGGAAGTGACTGATGGGGGGGTCGGCCTGAAGGGGGATG GAGACCATAGAGCAGGAAGTGACTGAT	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BDH1_chr3_197504783_197560968	197518953	C C	CTCAGTCA others(98): Show CTCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCCTCAGGCCGACCCCC CAATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCGCTCAGGCCGACC CCCCCA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01192.hp1 HG01255.hp1 others(5): Show HG00735.hp1 HG01192.hp1 HG01255.hp1 HG01261.hp2 HG01433.hp1 HG03942.hp2 HG04115.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0055 a0001c0001t0056 a0001c0001t0008 a0001c0001t0055 a0001c0001t0056	a0001c0001t0008g0078 a0001c0001t0008g0174 a0001c0001t0008g0175 others(5): Show a0001c0001t0008g0078 a0001c0001t0008g0174 a0001c0001t0008g0175 a0001c0001t0008g0176 a0001c0001t0008g0177 a0001c0001t0008g0199 a0001c0001t0055g0260 a0001c0001t0056g0165	8	318	0.0252	105	c.409 others(122): Show c.409+3686_409+3687insTGGGGGGGTCGGCCTGAGCGGGGGATGG AGACCATAGAGCAGGAAGTGACTGATTGGGGGGTCGGCCTGAGGGGGGAT GGAGACCATAGAGCAGGAAGTGACTGA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BDKRB2_chr14_96199839_96249164	96216768	A A	AGGAGGAG others(98): Show AGGAGGAGGAGGAGGAAGGAGGAGGAGGAAGGAGGAGGAAGGAGGAGGAG GAGGAAGGAGGAGGAGGAAGGAGGAGGAGGAGGAAGGAGGAGGAGGAGGA GGAAGG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01109.hp1 others(4): Show HG01069.hp2 HG01071.hp1 HG01109.hp1 HG01981.hp2 HG02559.hp2 HG03225.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 others(2): Show a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0024 a0001c0007t0011	a0001c0001t0011g0050 a0001c0001t0012g0064 a0001c0001t0014g0098 others(3): Show a0001c0001t0011g0050 a0001c0001t0012g0064 a0001c0001t0014g0098 a0001c0001t0014g0330 a0001c0001t0024g0034 a0001c0007t0011g0342	7	415	0.0169	105	c.-40 others(124): Show c.-40+11809_-40+11810insGGAGGAGGAGGAGGAAGGAGGAGGAG GAAGGAGGAGGAAGGAGGAGGAGGAGGAAGGAGGAGGAGGAAGGAGGAGG AGGAGGAAGGAGGAGGAGGAGGAGGAAGG	BDKRB2	ENSG00000168398.7	transcript	ENST00000554311.2	protein_coding	1/2			chr14	TogoVar
BOP1_chr8_144257045_144296438	144277789	A A	AGGGCAGG others(98): Show AGGGCAGGGGCGGTGCGGGCAGGGGCGGTGCAGGCAGGGGCGGTGCGGGC AGGGGCGGTGCAGGCAGGGGCGGTGCGGGCAGGGGCGGTGCGGGCAGGGG CGGTGC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0045 a0001c0010t0001g0045	1	383	0.0026	105	c.310 others(122): Show c.310-1486_310-1485insGCACCGCCCCTGCCCGCACCGCCCCTGC CCGCACCGCCCCTGCCTGCACCGCCCCTGCCCGCACCGCCCCTGCCTGCA CCGCCCCTGCCCGCACCGCCCCTGCCC	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144277790	G G	GGGCAGGG others(98): Show GGGCAGGGGCGGTGCGGGCAGGGGCGGTGCAGGCAGGGGCGGTGCGGGCA GGGGCGGTGCGGGCAGGGGCGGTGCGGGCAGGGGCGGTGCGGGCAGGGGC GGTGCA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	394	0.0025	105	c.310 others(122): Show c.310-1487_310-1486insTGCACCGCCCCTGCCCGCACCGCCCCTG CCCGCACCGCCCCTGCCCGCACCGCCCCTGCCCGCACCGCCCCTGCCTGC ACCGCCCCTGCCCGCACCGCCCCTGCC	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BRD1_chr22_49768283_49832873	49775869	G G	GCCCCCCC others(98): Show GCCCCCCCTCGCCGAACCATCCCTGCCCCTTCCAGCTGTGTGAACCTCCT CCGACCAACCCCGCCCCCCCGCCAGCTGTGTGAGCCTCCTCAGACCACCC CCACGC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	254	0.0039	105	c.323 others(122): Show c.3232-125_3232-124insGCGTGGGGGTGGTCTGAGGAGGCTCACA CAGCTGGCGGGGGGGCGGGGTTGGTCGGAGGAGGTTCACACAGCTGGAAG GGGCAGGGATGGTTCGGCGAGGGGGGG	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	11/12			chr22	TogoVar
BRF1_chr14_105204286_105306001	105235929	A A	AGGCCACA others(98): Show AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGCGGGGGGACAGCC TGGCAGCCCCGTGGCACACCCTCAGGAGCAACAACCTAGCATCTCAGGAG AGAGAG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	70	0.0143	105	c.694 others(122): Show c.694+5335_694+5336insCTCTCTCTCCTGAGATGCTAGGTTGTTG CTCCTGAGGGTGTGCCACGGGGCTGCCAGGCTGTCCCCCCGCCCCAGCTG GGCGACTACGCGGACAGTGGTGTGGCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105280889	A A	AGGTGTGC others(98): Show AGGTGTGCGGATACAGCCTGCGTGACCCTGAGCCCAGGTGTGCGGATACA GCCTGCGTGACCCTGAGCCCAGGTGTGTGGACAGAGCCTGCGTGATCCTG AGCCCG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01109.hp2 HG01123.hp1 others(7): Show HG00323.hp2 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01928.hp1 HG02258.hp2 HG02280.hp1 HG03516.hp1 HG03834.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(7): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0002g0057 a0001c0001t0007g0071	10	70	0.1429	105	c.265 others(122): Show c.265+5406_265+5407insCGGGCTCAGGATCACGCAGGCTCTGTCC ACACACCTGGGCTCAGGGTCACGCAGGCTGTATCCGCACACCTGGGCTCA GGGTCACGCAGGCTGTATCCGCACACC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
C11orf71_chr11_114393532_114405511	114394227	T T	TCTTTCCT others(98): Show TCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	418	0.0024	105	c.57 others(116): Show c.5732_*5733insGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAG	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4304		chr11	TogoVar
C22orf42_chr22_32144006_32164303	32145686	A A	ATATAATG others(98): Show ATATAATGATATATAATTTATTATATAATGATATATAATTTATTATATAA TGATATATAATTTATTATATAATGATATATAATTTATTATATAATGATAT ATAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03017.hp1 HG04204.hp2 others(2): Show HG02976.hp2 HG03017.hp1 HG04204.hp2 NA18522.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0007 a0002c0002t0002g0081 others(1): Show a0002c0002t0002g0004 a0002c0002t0002g0007 a0002c0002t0002g0081 a0002c0002t0002g0086	5	303	0.0165	105	c.38 others(116): Show c.3853_*3854insAATTATATATCATTATATAATAAATTATATATCA TTATATAATAAATTATATATCATTATATAATAAATTATATATCATTATAT AATAAATTATATATCATTATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3319		chr22	TogoVar
CABLES2_chr20_62383634_62412285	62398014	C C	CGGTGGTG others(98): Show CGGTGGTGGTGATGGTTATGACGGTGGTGATGGTGGTGGTGGTGGTGACG GTGATGGTGGTAATGGTGGTGGTGGTGACGGTGGTGGTGATGGTGGTGAC GGTAGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02976.hp2 HG03540.hp1 others(1): Show HG02818.hp2 HG02976.hp2 HG03540.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0017 a0001c0001t0006 a0001c0001t0017	a0001c0001t0006g0047 a0001c0001t0006g0174 a0001c0001t0017g0173 a0001c0001t0006g0047 a0001c0001t0006g0174 a0001c0001t0017g0173	4	347	0.0115	105	c.363 others(122): Show c.363-1423_363-1422insACTACCGTCACCACCATCACCACCACCG TCACCACCACCACCATTACCACCATCACCGTCACCACCACCACCACCATC ACCACCGTCATAACCATCACCACCACC	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CACNA1H_chr16_1148106_1226768	1185343	T T	TCCTTTGT others(98): Show TCCTTTGTCCCTGGTGTAGGCAGGGATTGGCGTTCATAGCCTCACCCACC GGTTATCCGGAGCTTAGACGTGCCCGGGTGGCAGCTGGACTCCTGGACGG TGTCTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0030 a0030	a0030c0111 a0030c0111	a0030c0111t0029 a0030c0111t0029	a0030c0111t0029g0255 a0030c0111t0029g0255	1	336	0.0030	105	c.300 others(122): Show c.300-9606_300-9605insGATTGGCGTTCATAGCCTCACCCACCGG TTATCCGGAGCTTAGACGTGCCCGGGTGGCAGCTGGACTCCTGGACGGTG TCTGCCTTTGTCCCTGGTGTAGGCAGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185607	G G	GGGCCGGG others(98): Show GGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGC ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0035 a0035	a0035c0101 a0035c0101	a0035c0101t0008 a0035c0101t0008	a0035c0101t0008g0261 a0035c0101t0008g0261	1	322	0.0031	105	c.300 others(122): Show c.300-9363_300-9362insCCGGGGGCGGGGTACGTGGGGGGCGGGT GAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGTCGGCATGCATAGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185607	G G	GGGCCGGG others(98): Show GGGCCGGGGGCGGGGTGTGTACGGGGCGGGTGAATAGACGGTCGGCATGC ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCA TGCATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02717.hp2 HG02559.hp2 HG02717.hp2	a0002 a0054 a0002 a0054	a0002c0039 a0054c0042 a0002c0039 a0054c0042	a0002c0039t0003 a0054c0042t0003 a0002c0039t0003 a0054c0042t0003	a0002c0039t0003g0228 a0054c0042t0003g0229 a0002c0039t0003g0228 a0054c0042t0003g0229	2	323	0.0062	105	c.300 others(122): Show c.300-9363_300-9362insCCGGGGGCGGGGTGTGTACGGGGCGGGT GAATAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGTGAGTAGACGGTCGGCATGCATAGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA2D1_chr7_81941444_82448777	82060211	A A	ATTATATA others(98): Show ATTATATATATATAATATATATATAATATATATATAATATATATATATTA TATATATATTATATATATATAATATATATATAATATATATATATTATATA TATATT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	85	0.0118	105	c.879 others(120): Show c.879+216_879+217insAATATATATATAATATATATATATTATATA TATATTATATATATATAATATATATATAATATATATATATTATATATATA TTATATATATATTATATATATATAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	10/38			chr7	TogoVar
CACNB4_chr2_151827771_152104044	152074603	T T	TCTCCACC others(98): Show TCTCCACCATCACCATCACCCCCTCACCATTACCACCTCCACCATCACCA TCACCCCCTCACCATTACCACCTCCACCATCACCATCACCCCCTCACCAT TACCAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0015 a0001c0005t0015	a0001c0005t0015g0199 a0001c0005t0015g0199	1	113	0.0088	105	c.147 others(124): Show c.147+23726_147+23727insGTGGTAATGGTGAGGGGGTGATGGTG ATGGTGGAGGTGGTAATGGTGAGGGGGTGATGGTGATGGTGGAGGTGGTA ATGGTGAGGGGGTGATGGTGATGGTGGAG	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	152074603	T T	TCTCCACC others(98): Show TCTCCACCATCACCATCACCCCCTCACCATTACCACCTCCACCATCACCA TCACCCCCTCACCATTACCACCTCTATCATCACCATCACCCCCTCACCAT TACCAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp1 HG00609.hp2 others(75): Show HG00280.hp2 HG00609.hp1 HG00609.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp2 HG01943.hp1 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG03130.hp1 HG03491.hp1 HG03491.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp2 NA18960.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA19002.hp1 NA19009.hp2 NA19010.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19086.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(19): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0020 a0001c0001t0021 a0001c0001t0026 a0001c0001t0031 a0001c0001t0034 a0001c0001t0035 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0001c0002t0024 a0001c0002t0029 a0001c0002t0030 a0001c0002t0036 a0001c0003t0006 a0001c0003t0007	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0103 others(75): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0134 a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0190 a0001c0001t0004g0095 a0001c0001t0004g0107 a0001c0001t0004g0126 a0001c0001t0004g0135 a0001c0001t0004g0153 a0001c0001t0004g0163 a0001c0001t0004g0177 a0001c0001t0004g0189 a0001c0001t0004g0192 a0001c0001t0004g0211 a0001c0001t0006g0111 a0001c0001t0006g0197 a0001c0001t0006g0206 a0001c0001t0006g0209 a0001c0001t0006g0210 a0001c0001t0009g0212 a0001c0001t0010g0109 a0001c0001t0010g0114 a0001c0001t0010g0121 a0001c0001t0010g0122 a0001c0001t0010g0123 a0001c0001t0010g0230 a0001c0001t0012g0106 a0001c0001t0012g0148 a0001c0001t0012g0191 a0001c0001t0012g0228 a0001c0001t0013g0094 a0001c0001t0013g0115 a0001c0001t0020g0149 a0001c0001t0021g0179 a0001c0001t0026g0204 a0001c0001t0031g0208 a0001c0001t0034g0102 a0001c0001t0035g0136 a0001c0002t0002g0162 a0001c0002t0002g0180 a0001c0002t0003g0093 a0001c0002t0003g0096 a0001c0002t0003g0112 a0001c0002t0003g0118 a0001c0002t0003g0125 a0001c0002t0003g0128 a0001c0002t0003g0152 a0001c0002t0003g0155 a0001c0002t0003g0158 a0001c0002t0003g0159 a0001c0002t0003g0175 a0001c0002t0003g0178 a0001c0002t0003g0183 a0001c0002t0009g0044 a0001c0002t0024g0176 a0001c0002t0029g0003 a0001c0002t0030g0166 a0001c0002t0036g0172 a0001c0003t0006g0098 a0001c0003t0007g0099 a0001c0003t0007g0151 a0001c0003t0007g0171 a0001c0003t0007g0219	78	190	0.4105	105	c.147 others(124): Show c.147+23726_147+23727insGTGGTAATGGTGAGGGGGTGATGGTG ATGATAGAGGTGGTAATGGTGAGGGGGTGATGGTGATGGTGGAGGTGGTA ATGGTGAGGGGGTGATGGTGATGGTGGAG	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNG8_chr19_53957937_53995215	53962358	G G	GAGCGGTG others(98): Show GAGCGGTGGTGGGGACTCCTCCGAGTGGGGTTAGTGGGATGGTGGGACGA CTTTCTTGGGCAGAAGACAGGAGTGGAGAGAGATTTCATCTTATTTATTA ATTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0005 a0001c0001t0086g0005	1	250	0.0040	105	c.-78 others(114): Show c.-785_-784insAGCGGTGGTGGGGACTCCTCCGAGTGGGGTTAGTGG GATGGTGGGACGACTTTCTTGGGCAGAAGACAGGAGTGGAGAGAGATTTC ATCTTATTTATTAATTATT	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		578		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53962427	G G	GGAGTGGA others(98): Show GGAGTGGAGAGAGATTTCATCTTATTTATTAATTATTAGCGGTGGTGGGG ACTCCTCCGAGTGGGGTTAGTGGGATGGTGGGACGACTTTCTTGGGCAGA AGACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0010 a0001c0001t0083g0010	1	389	0.0026	105	c.-71 others(114): Show c.-716_-715insGAGTGGAGAGAGATTTCATCTTATTTATTAATTATT AGCGGTGGTGGGGACTCCTCCGAGTGGGGTTAGTGGGATGGTGGGACGAC TTTCTTGGGCAGAAGACAA	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		509		chr19	TogoVar
CADM2_chr3_84953989_86079429	85212812	C C	CTCTTTCT others(98): Show CTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0041 a0001c0001t0044g0041	1	79	0.0127	105	c.61+ others(124): Show c.61+253158_61+253159insCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTTCTTTCTTTCTTTC	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CAMK1D_chr10_12344547_12840545	12520921	A A	AAGAGGGA others(98): Show AAGAGGGAGAGGGAGAGGGAGAGGAGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGAGAGGGAGAGGGAGAG GGAGAG	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0137 a0001c0001t0005g0137	1	208	0.0048	105	c.93- others(122): Show c.93-32304_93-32303insAGAGGGAGAGGGAGAGGGAGAGGAGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG AGAGGAGAGGGAGAGGGAGAGGGAGAG	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10			chr10	TogoVar
CAPN12_chr19_38725192_38749474	38735883	G G	GGGGCGGG others(98): Show GGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCAGGGCGGGGCGGTGG TTCTGCGGGCGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGTGG TTCTGC	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18993.hp1 NA19010.hp2 others(3): Show NA18970.hp2 NA18993.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19084.hp1	a0001 a0020 a0001 a0020	a0001c0001 a0020c0031 a0001c0001 a0020c0031	a0001c0001t0005 a0020c0031t0005 a0001c0001t0005 a0020c0031t0005	a0001c0001t0005g0272 a0001c0001t0005g0273 a0001c0001t0005g0275 others(3): Show a0001c0001t0005g0272 a0001c0001t0005g0273 a0001c0001t0005g0275 a0001c0001t0005g0277 a0001c0001t0005g0279 a0020c0031t0005g0290	6	287	0.0209	105	c.158 others(122): Show c.1583+226_1583+227insGCAGAACCACCGCCCCGCCCCGCCCGCA GAACCACCGCCCCGCCCCGCCCGCAGAACCACCGCCCCGCCCTGCCCCGC CCCGCCCGCAGAACCACCGCCCCGCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735883	G G	GGGGCGGG others(98): Show GGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGGGCGGGGCGGTGG TTCTGCGGGCGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGTGG TTCTGC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02071.hp1 HG02132.hp1 others(2): Show HG02040.hp1 HG02071.hp1 HG02132.hp1 HG03942.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0271 a0001c0001t0005g0274 a0001c0001t0005g0282 others(2): Show a0001c0001t0005g0271 a0001c0001t0005g0274 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0005g0286	5	286	0.0175	105	c.158 others(122): Show c.1583+226_1583+227insGCAGAACCACCGCCCCGCCCCGCCCGCA GAACCACCGCCCCGCCCCGCCCGCAGAACCACCGCCCCGCCCCGCCCCGC CCCGCCCGCAGAACCACCGCCCCGCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38743335	G G	GAGCCCCT others(98): Show GAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCAGCCCCTCCTCCCT CAGACCCAGGAGTCCAGGCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCC AGGCCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG00733.hp2 others(19): Show HG00280.hp1 HG00597.hp1 HG00733.hp2 HG01099.hp1 HG01123.hp2 HG01515.hp2 HG01517.hp2 HG01975.hp2 HG02135.hp2 HG02293.hp2 HG03017.hp2 HG03041.hp2 HG03491.hp1 HG03710.hp1 HG04115.hp2 HG04199.hp2 NA18522.hp1 NA18966.hp2 NA18967.hp2 NA19010.hp1 NA19030.hp1 NA20905.hp2	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0006 a0003c0005 a0010c0018 a0001c0006 a0003c0005 a0010c0018	a0001c0006t0004 a0003c0005t0004 a0010c0018t0004 a0001c0006t0004 a0003c0005t0004 a0010c0018t0004	a0001c0006t0004g0026 a0003c0005t0004g0020 a0003c0005t0004g0021 others(19): Show a0001c0006t0004g0026 a0003c0005t0004g0020 a0003c0005t0004g0021 a0003c0005t0004g0022 a0003c0005t0004g0023 a0003c0005t0004g0024 a0003c0005t0004g0025 a0003c0005t0004g0027 a0003c0005t0004g0028 a0003c0005t0004g0029 a0003c0005t0004g0030 a0003c0005t0004g0031 a0003c0005t0004g0032 a0003c0005t0004g0033 a0003c0005t0004g0034 a0003c0005t0004g0035 a0003c0005t0004g0036 a0003c0005t0004g0037 a0003c0005t0004g0038 a0003c0005t0004g0039 a0003c0005t0004g0041 a0010c0018t0004g0040	22	338	0.0651	105	c.238 others(120): Show c.238-234_238-233insGGGCCTGGACTCCTGGGTCTGAGGGAGGAG GGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGAC TCCTGGGTCTGAGGGAGGAGGGGCT	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	1/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38743335	G G	GAGCCCCT others(98): Show GAGCCCCTCCTCCCTCAGACCCGGGAGTCCAGGCCCAGCCCCTCCTCCCT CAGACCCAGGAGTCCAGGCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCC AGGCCC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0019 a0003c0005t0004g0019	1	317	0.0032	105	c.238 others(120): Show c.238-234_238-233insGGGCCTGGACTCCTGGGTCTGAGGGAGGAG GGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGAC TCCCGGGTCTGAGGGAGGAGGGGCT	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	1/20			chr19	TogoVar
CARD11_chr7_2901142_3048867	2972458	T T	TGTTAAAA others(98): Show TGTTAAAATAAGAGTCTCTGAGGATGCCGTCTGTTGTAGATTTAGAGAGT TGGGGAGTTGGGTGGCCAGGGTTCCACGGGCCGGGAACCCACAAATAAGG AAGCCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp1 others(68): Show HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00558.hp1 HG00735.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01192.hp1 HG01433.hp2 HG01884.hp1 HG01981.hp2 HG02055.hp1 HG02109.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG04184.hp1 HG04204.hp2 NA18906.hp2 NA18944.hp2 NA18971.hp1 NA18981.hp2 NA18999.hp1 NA19005.hp1 NA19009.hp2 NA19043.hp1 NA19081.hp2 NA19085.hp2 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0007 a0008 a0014	a0001c0001 a0001c0002 a0001c0003 others(24): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0016 a0001c0020 a0001c0021 a0001c0029 a0001c0037 a0001c0044 a0001c0052 a0001c0060 a0003c0035 a0003c0062 a0004c0019 a0007c0046 a0008c0053 a0014c0038	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(27): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0011 a0001c0002t0015 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0008t0001 a0001c0009t0002 a0001c0010t0002 a0001c0011t0001 a0001c0012t0001 a0001c0013t0001 a0001c0014t0001 a0001c0016t0002 a0001c0020t0001 a0001c0021t0001 a0001c0029t0001 a0001c0037t0001 a0001c0044t0003 a0001c0052t0001 a0001c0060t0001 a0003c0035t0003 a0003c0062t0003 a0004c0019t0001 a0007c0046t0001 a0008c0053t0001 a0014c0038t0001	a0001c0001t0001g0042 a0001c0001t0001g0117 a0001c0001t0001g0127 others(68): Show a0001c0001t0001g0042 a0001c0001t0001g0117 a0001c0001t0001g0127 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0280 a0001c0001t0004g0276 a0001c0002t0001g0018 a0001c0002t0001g0083 a0001c0002t0001g0107 a0001c0002t0001g0115 a0001c0002t0001g0193 a0001c0002t0001g0218 a0001c0002t0001g0228 a0001c0002t0001g0250 a0001c0002t0011g0262 a0001c0002t0015g0322 a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0041 a0001c0003t0001g0069 a0001c0003t0001g0084 a0001c0003t0001g0087 a0001c0003t0001g0149 a0001c0003t0001g0247 a0001c0004t0001g0028 a0001c0004t0001g0043 a0001c0004t0001g0174 a0001c0004t0001g0257 a0001c0005t0001g0198 a0001c0005t0001g0251 a0001c0005t0001g0263 a0001c0006t0001g0266 a0001c0008t0001g0031 a0001c0008t0001g0032 a0001c0008t0001g0033 a0001c0008t0001g0062 a0001c0008t0001g0068 a0001c0008t0001g0194 a0001c0008t0001g0275 a0001c0009t0002g0314 a0001c0010t0002g0034 a0001c0010t0002g0058 a0001c0010t0002g0097 a0001c0010t0002g0188 a0001c0010t0002g0283 a0001c0011t0001g0029 a0001c0011t0001g0096 a0001c0011t0001g0309 a0001c0011t0001g0318 a0001c0012t0001g0049 a0001c0013t0001g0265 a0001c0014t0001g0098 a0001c0016t0002g0125 a0001c0020t0001g0297 a0001c0021t0001g0021 a0001c0029t0001g0300 a0001c0037t0001g0271 a0001c0044t0003g0267 a0001c0052t0001g0270 a0001c0060t0001g0260 a0003c0035t0003g0317 a0003c0062t0003g0312 a0004c0019t0001g0298 a0007c0046t0001g0074 a0008c0053t0001g0287 a0014c0038t0001g0056	71	320	0.2219	105	c.-12 others(126): Show c.-125-13828_-125-13827insTGGCTTCCTTATTTGTGGGTTCCC GGCCCGTGGAACCCTGGCCACCCAACTCCCCAACTCTCTAAATCTACAAC AGACGGCATCCTCAGAGACTCTTATTTTAAC	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24			chr7	TogoVar
CCDC171_chr9_15548043_15979037	15883017	C C	CCTTCCTT others(98): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTGGCTGCCTTCCTCCCCTCCCATCCCCTCC CCTCCT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00597.hp1 others(6): Show HG00438.hp2 HG00558.hp1 HG00597.hp1 HG01261.hp2 HG01361.hp1 HG02027.hp1 HG03490.hp1 HG03927.hp1 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0013 a0002c0002 a0002c0013	a0002c0002t0002 a0002c0013t0002 a0002c0002t0002 a0002c0013t0002	a0002c0002t0002g0069 a0002c0002t0002g0086 a0002c0002t0002g0087 others(6): Show a0002c0002t0002g0069 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0095 a0002c0002t0002g0105 a0002c0002t0002g0110 a0002c0002t0002g0123 a0002c0002t0002g0141 a0002c0013t0002g0068	9	92	0.0978	105	c.360 others(124): Show c.3600+8356_3600+8357insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTGGCTGCCT TCCTCCCCTCCCATCCCCTCCCCTCCTCT	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	24/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC18_chr1_93175724_93283730	93282462	C C	CATATATA others(98): Show CATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATAAAATACATGTATATAAAATACATA TATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0010 a0002c0001t0001g0010	1	119	0.0084	105	c.39 others(116): Show c.3985_*3986insATATATATATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATATATATATAAAATACATG TATATAAAATACATATATATA	CCDC18	ENSG00000122483.18	transcript	ENST00000690025.1	protein_coding		3733		chr1	TogoVar
CCDC38_chr12_95862048_95947614	95908636	A A	AGAGGGAG others(98): Show AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03471.hp2 NA18612.hp1 others(8): Show HG00423.hp1 HG03471.hp2 NA18612.hp1 NA18939.hp1 NA18946.hp1 NA18947.hp1 NA18985.hp2 NA18989.hp1 NA18994.hp1 NA19006.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0003 a0001c0002 a0001c0005 a0002c0003	a0001c0002t0001 a0001c0005t0001 a0001c0005t0002 others(2): Show a0001c0002t0001 a0001c0005t0001 a0001c0005t0002 a0002c0003t0001 a0002c0003t0002	a0001c0002t0001g0054 a0001c0002t0001g0225 a0001c0005t0001g0038 others(8): Show a0001c0002t0001g0054 a0001c0002t0001g0225 a0001c0005t0001g0038 a0001c0005t0001g0091 a0001c0005t0002g0274 a0002c0003t0001g0180 a0002c0003t0002g0267 a0002c0003t0002g0283 a0002c0003t0002g0290 a0002c0003t0002g0295 a0002c0003t0002g0299	11	62	0.1774	105	c.305 others(122): Show c.305-2186_305-2185insCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTC	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CCZ1B_chr7_6793937_6831275	6797861	A A	AAATACAC others(98): Show AAATACACACACACACACACACACACACACACACACACACATATACATAC ACACACACACACACATATATATACACACACATATATATATACACACACAC ACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp2 NA18953.hp1 NA19006.hp1 others(1): Show HG03492.hp2 NA18953.hp1 NA19006.hp1 NA19087.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0114 a0002c0003t0003g0148 a0002c0003t0003g0151 others(1): Show a0002c0003t0003g0114 a0002c0003t0003g0148 a0002c0003t0003g0151 a0002c0003t0003g0155	4	352	0.0114	105	c.13 others(116): Show c.1362_*1363insATGTGTGTGTGTGTGTATATATATATGTGTGTGT ATATATATGTGTGTGTGTGTGTGTATGTATATGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTATT	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		1075		chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6797863	A A	ATACACAC others(98): Show ATACACACACACACACACACACACACACACACACACACACACATACATAC ACACACACACACACATATATATACACACACATATATATATACACACACAC ACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0119 a0002c0003t0003g0119	1	270	0.0037	105	c.13 others(116): Show c.1360_*1361insATGTGTGTGTGTGTGTATATATATATGTGTGTGT ATATATATGTGTGTGTGTGTGTGTATGTATGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTA	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		1073		chr7	TogoVar

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