Joint Open Genome and Omics Platform (JoGo)

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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
CAPN12_chr19_38725192_38749474	38735797	C C	CAGGGCGG others(8): Show CAGGGCGGGGGTTCTG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0034 a0003c0005t0004g0034	1	315	0.0032	15	c.158 others(32): Show c.1584-254_1584-253insCAGAACCCCCGCCCT	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735797	C C	CGGGGCGG others(8): Show CGGGGCGGGGGTTCTG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02896.hp2 HG02897.hp1 others(1): Show HG01975.hp2 HG02896.hp2 HG02897.hp1 HG03453.hp1	a0003 a0006 a0003 a0006	a0003c0005 a0006c0009 a0003c0005 a0006c0009	a0003c0005t0004 a0006c0009t0003 a0003c0005t0004 a0006c0009t0003	a0003c0005t0004g0024 a0006c0009t0003g0012 a0003c0005t0004g0024 a0006c0009t0003g0012	4	318	0.0126	15	c.158 others(32): Show c.1584-254_1584-253insCAGAACCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735798	G G	GGGGCGGG others(8): Show GGGGCGGGGGTTCTGC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG03491.hp1 HG02004.hp1 HG03491.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0019 a0003c0005t0004g0038 a0003c0005t0004g0019 a0003c0005t0004g0038	2	326	0.0061	15	c.158 others(32): Show c.1584-255_1584-254insGCAGAACCCCCGCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735837	G G	GGGGGCGG others(8): Show GGGGGCGGGGCGGGGC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0171 a0001c0003t0001g0171	1	243	0.0041	15	c.158 others(32): Show c.1583+258_1583+272dupGCCCCGCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735843	G G	GGGGCGGT others(8): Show GGGGCGGTGGTTCTGC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02647.hp1 HG00423.hp1 HG02647.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0223 a0002c0004t0001g0069 a0001c0001t0001g0223 a0002c0004t0001g0069	2	324	0.0062	15	c.158 others(32): Show c.1583+266_1583+267insGCAGAACCACCGCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735847	C C	CGGGGCGG others(8): Show CGGGGCGGGGGTTCTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03492.hp1 HG01891.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0124 a0001c0001t0001g0052 a0001c0001t0001g0124	2	329	0.0061	15	c.158 others(32): Show c.1583+262_1583+263insCAGAACCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735848	G G	GGGGCGGT others(8): Show GGGGCGGTGGTTCTGC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0238 a0001c0001t0020g0238	1	326	0.0031	15	c.158 others(32): Show c.1583+261_1583+262insGCAGAACCACCGCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735877	C C	CGGGGCGG others(8): Show CGGGGCGGGGGTTCTG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	332	0.0030	15	c.158 others(32): Show c.1583+232_1583+233insCAGAACCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735883	G G	GGGGCGGT others(8): Show GGGGCGGTGGTTCTGC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03471.hp1 NA18964.hp2 others(1): Show HG03130.hp1 HG03471.hp1 NA18964.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0216 others(1): Show a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0216 a0001c0001t0001g0217	4	285	0.0140	15	c.158 others(32): Show c.1583+226_1583+227insGCAGAACCACCGCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735912	C C	CGGGGCGG others(8): Show CGGGGCGGGGGTTCTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03688.hp2 HG00642.hp2 HG03688.hp2	a0004 a0008 a0004 a0008	a0004c0008 a0008c0030 a0004c0008 a0008c0030	a0004c0008t0005 a0008c0030t0007 a0004c0008t0005 a0008c0030t0007	a0004c0008t0005g0276 a0008c0030t0007g0289 a0004c0008t0005g0276 a0008c0030t0007g0289	2	332	0.0060	15	c.158 others(32): Show c.1583+197_1583+198insCAGAACCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735955	G G	GGCGGGGC others(8): Show GGCGGGGCGGGGCGGT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02300.hp1 HG02602.hp1 others(4): Show HG01106.hp2 HG02300.hp1 HG02602.hp1 HG03041.hp1 HG03927.hp2 HG03942.hp2 NA20805.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0018 a0002c0004t0001 a0002c0004t0018	a0002c0004t0001g0058 a0002c0004t0001g0059 a0002c0004t0001g0060 others(4): Show a0002c0004t0001g0058 a0002c0004t0001g0059 a0002c0004t0001g0060 a0002c0004t0001g0072 a0002c0004t0001g0075 a0002c0004t0001g0077 a0002c0004t0018g0071	7	330	0.0212	15	c.158 others(32): Show c.1583+154_1583+155insACCGCCCCGCCCCGC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735962	G G	GCGGGCGG others(8): Show GCGGGCGGGGCGGGGC	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA20805.hp2 HG02300.hp1 NA20805.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0058 a0002c0004t0001g0059 a0002c0004t0001g0058 a0002c0004t0001g0059	2	197	0.0102	15	c.158 others(32): Show c.1583+147_1583+148insGCCCCGCCCCGCCCG	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735962	G G	GGGGGCGG others(8): Show GGGGGCGGGGCGGGGC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01074.hp1 HG01952.hp1 others(7): Show HG00558.hp1 HG01074.hp1 HG01952.hp1 HG01981.hp2 HG02630.hp1 HG02809.hp2 NA18982.hp2 NA18986.hp2 NA19068.hp1 NA19070.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0005c0007t0003	a0001c0001t0001g0082 a0001c0001t0001g0123 a0001c0001t0010g0264 others(7): Show a0001c0001t0001g0082 a0001c0001t0001g0123 a0001c0001t0010g0264 a0001c0001t0011g0044 a0001c0001t0012g0043 a0005c0007t0003g0255 a0005c0007t0003g0257 a0005c0007t0003g0258 a0005c0007t0003g0259 a0005c0007t0003g0260	10	205	0.0488	15	c.158 others(32): Show c.1583+133_1583+147dupGCCCCGCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735968	G G	GGGGCGGT others(8): Show GGGGCGGTGGTTCTGC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0076 a0002c0004t0001g0076	1	327	0.0031	15	c.158 others(32): Show c.1583+141_1583+142insGCAGAACCACCGCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735972	C C	CGGGGCGG others(8): Show CGGGGCGGGGGTTCTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02055.hp2 HG01081.hp1 HG02055.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0005 a0002c0004t0001 a0001c0001t0005 a0002c0004t0001	a0001c0001t0005g0287 a0002c0004t0001g0049 a0001c0001t0005g0287 a0002c0004t0001g0049	2	307	0.0065	15	c.158 others(32): Show c.1583+137_1583+138insCAGAACCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38736578	A A	AGCAAGGG others(8): Show AGCAAGGGGCGTCGGG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0152 a0001c0002t0002g0152	1	340	0.0029	15	c.136 others(30): Show c.1363-30_1363-16dupCCCGACGCCCCTTGC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	10/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38742850	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18941.hp1 HG02015.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0005g0293 a0001c0001t0005g0294	2	113	0.0177	15	c.307 others(30): Show c.307+168_307+182dupTTTTTTTTTTTTTTT	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	2/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38749044	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 NA18986.hp2 NA19000.hp2 HG01952.hp1 NA18986.hp2 NA19000.hp2	a0005 a0021 a0005 a0021	a0005c0007 a0021c0017 a0005c0007 a0021c0017	a0005c0007t0003 a0021c0017t0003 a0005c0007t0003 a0021c0017t0003	a0005c0007t0003g0259 a0005c0007t0003g0260 a0021c0017t0003g0262 a0005c0007t0003g0259 a0005c0007t0003g0260 a0021c0017t0003g0262	3	178	0.0169	15	c.-48 others(26): Show c.-4880_-4879insTTTTTTTTTTTTTTT	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding		4571		chr19	TogoVar
CAPN13_chr2_30717771_30812446	30800116	A A	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18971.hp1 HG03041.hp1 NA18971.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0005 a0003c0004t0002 a0001c0002t0005 a0003c0004t0002	a0001c0002t0005g0345 a0003c0004t0002g0102 a0001c0002t0005g0345 a0003c0004t0002g0102	2	89	0.0225	15	c.-33 others(32): Show c.-33+7185_-33+7186insCTTTCTTTCTTTCTT	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30805747	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA19090.hp2 NA20805.hp1 HG02738.hp2 NA19090.hp2 NA20805.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0248 a0005c0006t0001g0266 a0005c0006t0001g0267 a0001c0001t0001g0248 a0005c0006t0001g0266 a0005c0006t0001g0267	3	109	0.0275	15	c.-33 others(32): Show c.-33+1554_-33+1555insAAAAAAAAAAAAAAA	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN14_chr2_31168056_31222515	31210460	C C	CATAAAAT others(8): Show CATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01070.hp2 HG01358.hp2 others(21): Show HG00735.hp2 HG01070.hp2 HG01358.hp2 HG01361.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01993.hp2 HG02055.hp1 HG02273.hp1 HG02293.hp2 HG02486.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02922.hp1 HG03516.hp1 HG03579.hp2 HG03704.hp1 NA18991.hp2 NA19081.hp1 NA19086.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009 a0013 a0015 a0016 a0024	a0001c0001 a0001c0003 a0002c0002 others(10): Show a0001c0001 a0001c0003 a0002c0002 a0003c0005 a0003c0025 a0005c0013 a0006c0007 a0007c0009 a0009c0010 a0013c0026 a0015c0023 a0016c0024 a0024c0030	a0001c0001t0004 a0001c0001t0019 a0001c0003t0003 others(13): Show a0001c0001t0004 a0001c0001t0019 a0001c0003t0003 a0001c0003t0004 a0002c0002t0020 a0003c0005t0001 a0003c0025t0001 a0005c0013t0006 a0006c0007t0008 a0007c0009t0006 a0009c0010t0011 a0013c0026t0020 a0013c0026t0031 a0015c0023t0006 a0016c0024t0004 a0024c0030t0001	a0001c0001t0004g0261 a0001c0001t0019g0256 a0001c0001t0019g0257 others(19): Show a0001c0001t0004g0261 a0001c0001t0019g0256 a0001c0001t0019g0257 a0001c0003t0003g0264 a0001c0003t0004g0263 a0002c0002t0020g0271 a0003c0005t0001g0144 a0003c0005t0001g0145 a0003c0025t0001g0164 a0005c0013t0006g0136 a0005c0013t0006g0137 a0006c0007t0008g0244 a0006c0007t0008g0245 a0006c0007t0008g0246 a0006c0007t0008g0254 a0007c0009t0006g0018 a0009c0010t0011g0274 a0013c0026t0020g0273 a0013c0026t0031g0272 a0015c0023t0006g0030 a0016c0024t0004g0247 a0024c0030t0001g0248	24	49	0.4898	15	c.-52 others(32): Show c.-52-4976_-52-4962dupTTTATTTTATTTTAT	CAPN14	ENSG00000214711.10	transcript	ENST00000403897.4	protein_coding	1/21			chr2	TogoVar
CAPN15_chr16_522712_559636	536705	T T	TGAGCCTT others(8): Show TGAGCCTTACAGGCGG	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0395 a0001c0001t0002g0395	1	408	0.0025	15	c.-23 others(30): Show c.-23+568_-23+569insTTACAGGCGGGAGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN2_chr1_223707539_223781018	223741435	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02622.hp2 HG02615.hp1 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0001 a0001c0002t0006	a0001c0002t0001g0324 a0001c0002t0006g0078 a0001c0002t0001g0324 a0001c0002t0006g0078	2	364	0.0055	15	c.308 others(32): Show c.308-2665_308-2664insTATATATATATATAT	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding	2/20			chr1	TogoVar
CAPN2_chr1_223707539_223781018	223746475	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02886.hp1 HG02258.hp1 HG02886.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0003 a0004c0009t0001 a0004c0009t0003	a0004c0009t0001g0032 a0004c0009t0003g0316 a0004c0009t0001g0032 a0004c0009t0003g0316	2	219	0.0091	15	c.561 others(30): Show c.561-515_561-501dupTTTTTTTTTTTTTTT	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN5_chr11_77061971_77131155	77093583	A A	AGTCTGTG others(8): Show AGTCTGTGTCTGTCAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp2 HG03209.hp1 HG02145.hp2 HG02451.hp2 HG03209.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0021 a0003c0004t0021	a0003c0004t0021g0009 a0003c0004t0021g0234 a0003c0004t0021g0009 a0003c0004t0021g0234	3	302	0.0099	15	c.166 others(28): Show c.166-84_166-70dupCGTCTGTGTCTGTCA	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPN6_chrX_111240099_111275483	111270389	C C	CCTGCTGC others(8): Show CCTGCTGCTGCTGCTG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02818.hp1 HG02897.hp2 HG02818.hp1 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0019 a0002c0005t0020 a0002c0002t0019 a0002c0005t0020	a0002c0002t0019g0048 a0002c0005t0020g0047 a0002c0002t0019g0048 a0002c0005t0020g0047	2	190	0.0105	15	c.-49 others(22): Show c.-49_-35dupCAGCAGCAGCAGCAG	CAPN6	ENSG00000077274.9	transcript	ENST00000324068.2	protein_coding	1/13	6454		chrX	TogoVar
CAPN7_chr3_15201246_15257916	15210596	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03209.hp1 HG03453.hp2 others(3): Show HG03098.hp1 HG03209.hp1 HG03453.hp2 HG03540.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0009 a0001c0001t0004g0050 a0001c0001t0004g0051	6	169	0.0355	15	c.103 others(32): Show c.103-1505_103-1491dupTTTTTTTTTTTTTTT	CAPN7	ENSG00000131375.10	transcript	ENST00000253693.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
CAPSL_chr5_35899288_35943622	35919170	A A	AAAAAAAT others(8): Show AAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	204	0.0049	15	c.137 others(32): Show c.137+1813_137+1814insATATATATATTTTTT	CAPSL	ENSG00000152611.12	transcript	ENST00000651391.1	protein_coding	2/4			chr5	TogoVar
CAPZA2_chr7_116857587_116927049	116880696	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02683.hp2 HG03098.hp1 others(3): Show HG02602.hp2 HG02683.hp2 HG03098.hp1 HG03130.hp2 HG03927.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0026 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0026 a0001c0001t0039	a0001c0001t0001g0253 a0001c0001t0001g0284 a0001c0001t0002g0158 others(3): Show a0001c0001t0001g0253 a0001c0001t0001g0284 a0001c0001t0002g0158 a0001c0001t0002g0339 a0001c0001t0026g0170 a0001c0001t0039g0188	6	9	0.6667	15	c.40- others(30): Show c.40-7407_40-7393dupTTTTTTTTTTTTTTT	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116904969	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02293.hp2 HG00673.hp2 HG02293.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0297 a0001c0002t0004g0322 a0001c0002t0004g0297 a0001c0002t0004g0322	2	223	0.0090	15	c.426 others(30): Show c.426+592_426+606dupAAAAAAAAAAAAAAA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA3_chr12_18733119_18744188	18743656	G G	GTTTGTTT others(8): Show GTTTGTTTTGTTTTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	31	0.0323	15	c.44 others(26): Show c.4488_*4489insTTTGTTTTGTTTTGT	CAPZA3	ENSG00000177938.5	transcript	ENST00000317658.5	protein_coding		4469		chr12	TogoVar
CAPZB_chr1_19333775_19490539	19333899	C C	CAAACAAA others(8): Show CAAACAAAACAAAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01175.hp1 HG01978.hp1 others(7): Show HG01070.hp2 HG01175.hp1 HG01978.hp1 HG02615.hp2 HG02965.hp1 HG03017.hp2 HG03453.hp1 HG03516.hp2 HG03704.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0022 others(7): Show a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0100 a0001c0001t0001g0131 a0001c0001t0001g0144 a0001c0001t0001g0177 a0001c0001t0001g0259 a0001c0001t0001g0293 a0001c0001t0001g0309	10	196	0.0510	15	c.56 others(26): Show c.5630_*5631insTGTTTTGTTTTGTTT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding		4875		chr1	TogoVar
CAPZB_chr1_19333775_19490539	19333935	A A	AAACAAAA others(8): Show AAACAAAACAAAACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02572.hp1 others(4): Show HG01884.hp2 HG02109.hp1 HG02572.hp1 HG02717.hp2 HG03098.hp2 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0090 a0001c0001t0001g0194 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0090 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0243	7	182	0.0385	15	c.55 others(26): Show c.5594_*5595insGTGTTTTGTTTTGTT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding		4839		chr1	TogoVar
CAPZB_chr1_19333775_19490539	19422729	A A	AAACAACA others(8): Show AAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03491.hp2 HG03492.hp1 HG02258.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0305 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0305	3	51	0.0588	15	c.4-2 others(28): Show c.4-2994_4-2980dupGTTGTTGTTGTTGTT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	1/8			chr1	TogoVar
CARD11_chr7_2901142_3048867	2909474	C C	TCCCTCCG others(8): Show TCCCTCCGCCCCTCAC	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	176	0.0057	15	c.326 others(32): Show c.3260+576_3260+577insTGAGGGGCGGAGGGA	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2910718	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0014 a0014	a0014c0038 a0014c0038	a0014c0038t0001 a0014c0038t0001	a0014c0038t0001g0056 a0014c0038t0001g0056	1	309	0.0032	15	c.314 others(32): Show c.3145-554_3145-553insGTGTGTGTGTGTGTG	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	23/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2910743	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	319	0.0031	15	c.314 others(32): Show c.3145-579_3145-578insGTGTGTGTGTGTGTG	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	23/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2941539	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0001 a0001c0037t0001	a0001c0037t0001g0271 a0001c0037t0001g0271	1	130	0.0077	15	c.685 others(32): Show c.685-1626_685-1612dupTTTTTTTTTTTTTTT	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	5/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	3022935	A A	ATATTTAT others(8): Show ATATTTATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0016 a0016	a0016c0045 a0016c0045	a0016c0045t0001 a0016c0045t0001	a0016c0045t0001g0320 a0016c0045t0001g0320	1	292	0.0034	15	c.-12 others(36): Show c.-126+20731_-126+20732insATATATATATAAATA	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24			chr7	TogoVar
CARD14_chr17_80165030_80214331	80165033	C C	CATTTTAT others(8): Show CATTTTATTTTATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00558.hp1 others(87): Show HG00323.hp1 HG00408.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01975.hp1 HG01993.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02165.hp1 HG02258.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04199.hp1 HG04199.hp2 NA18612.hp1 NA18747.hp1 NA18948.hp1 NA18949.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp1 NA18968.hp1 NA18970.hp2 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18983.hp2 NA18984.hp1 NA18989.hp2 NA18991.hp1 NA18993.hp1 NA18999.hp2 NA19001.hp2 NA19003.hp2 NA19012.hp2 NA19084.hp1 NA19084.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011 a0015 a0016 a0018 a0019 a0026	a0001c0001 a0001c0007 a0001c0012 others(26): Show a0001c0001 a0001c0007 a0001c0012 a0001c0024 a0001c0027 a0001c0051 a0002c0002 a0002c0005 a0002c0017 a0003c0006 a0003c0013 a0004c0003 a0004c0008 a0004c0031 a0004c0052 a0004c0053 a0005c0004 a0005c0014 a0006c0009 a0006c0015 a0007c0011 a0007c0050 a0008c0018 a0011c0034 a0015c0033 a0016c0042 a0018c0041 a0019c0047 a0026c0043	a0001c0001t0002 a0001c0001t0009 a0001c0007t0002 others(31): Show a0001c0001t0002 a0001c0001t0009 a0001c0007t0002 a0001c0007t0004 a0001c0012t0001 a0001c0024t0002 a0001c0027t0002 a0001c0051t0001 a0002c0002t0001 a0002c0005t0001 a0002c0017t0001 a0003c0006t0001 a0003c0006t0002 a0003c0006t0025 a0003c0013t0002 a0004c0003t0001 a0004c0003t0010 a0004c0008t0001 a0004c0031t0008 a0004c0052t0001 a0004c0053t0001 a0005c0004t0001 a0005c0014t0002 a0006c0009t0001 a0006c0015t0001 a0007c0011t0003 a0007c0050t0003 a0008c0018t0001 a0011c0034t0001 a0015c0033t0001 a0016c0042t0002 a0018c0041t0001 a0019c0047t0001 a0026c0043t0001	a0001c0001t0002g0023 a0001c0001t0002g0256 a0001c0001t0002g0285 others(86): Show a0001c0001t0002g0023 a0001c0001t0002g0256 a0001c0001t0002g0285 a0001c0001t0002g0287 a0001c0001t0002g0305 a0001c0001t0002g0311 a0001c0001t0002g0315 a0001c0001t0002g0326 a0001c0001t0002g0329 a0001c0001t0002g0337 a0001c0001t0002g0346 a0001c0001t0002g0349 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0009g0087 a0001c0001t0009g0088 a0001c0001t0009g0089 a0001c0007t0002g0011 a0001c0007t0002g0257 a0001c0007t0002g0280 a0001c0007t0002g0288 a0001c0007t0002g0293 a0001c0007t0002g0295 a0001c0007t0002g0301 a0001c0007t0002g0303 a0001c0007t0004g0302 a0001c0012t0001g0308 a0001c0012t0001g0344 a0001c0024t0002g0354 a0001c0027t0002g0086 a0001c0027t0002g0090 a0001c0051t0001g0316 a0002c0002t0001g0281 a0002c0002t0001g0323 a0002c0005t0001g0282 a0002c0005t0001g0298 a0002c0005t0001g0322 a0002c0017t0001g0020 a0003c0006t0001g0259 a0003c0006t0002g0039 a0003c0006t0025g0363 a0003c0013t0002g0021 a0003c0013t0002g0268 a0003c0013t0002g0277 a0003c0013t0002g0278 a0003c0013t0002g0283 a0003c0013t0002g0292 a0004c0003t0001g0319 a0004c0003t0001g0338 a0004c0003t0001g0345 a0004c0003t0010g0334 a0004c0008t0001g0258 a0004c0008t0001g0270 a0004c0008t0001g0279 a0004c0008t0001g0291 a0004c0008t0001g0297 a0004c0008t0001g0304 a0004c0008t0001g0313 a0004c0008t0001g0318 a0004c0031t0008g0043 a0004c0052t0001g0317 a0004c0053t0001g0164 a0005c0004t0001g0276 a0005c0004t0001g0290 a0005c0004t0001g0299 a0005c0004t0001g0312 a0005c0004t0001g0320 a0005c0004t0001g0330 a0005c0004t0001g0331 a0005c0004t0001g0332 a0005c0004t0001g0333 a0005c0004t0001g0339 a0005c0014t0002g0309 a0006c0009t0001g0310 a0006c0009t0001g0340 a0006c0015t0001g0300 a0007c0011t0003g0358 a0007c0011t0003g0359 a0007c0050t0003g0348 a0008c0018t0001g0254 a0008c0018t0001g0255 a0011c0034t0001g0325 a0011c0034t0001g0335 a0015c0033t0001g0327 a0015c0033t0001g0347 a0016c0042t0002g0273 a0018c0041t0001g0314 a0019c0047t0001g0296 a0026c0043t0001g0269	90	220	0.4091	15	c.-57 others(26): Show c.-5713_-5712insATTTTATTTTATTTT	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding		4996		chr17	TogoVar
CARD14_chr17_80165030_80214331	80165054	A A	ATTTTATT others(8): Show ATTTTATTTTATTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02809.hp1 HG03453.hp2 HG02258.hp1 HG02809.hp1 HG03453.hp2	a0004 a0005 a0024 a0004 a0005 a0024	a0004c0003 a0005c0004 a0024c0060 a0004c0003 a0005c0004 a0024c0060	a0004c0003t0001 a0005c0004t0001 a0024c0060t0002 a0004c0003t0001 a0005c0004t0001 a0024c0060t0002	a0004c0003t0001g0328 a0005c0004t0001g0324 a0024c0060t0002g0336 a0004c0003t0001g0328 a0005c0004t0001g0324 a0024c0060t0002g0336	3	374	0.0080	15	c.-56 others(26): Show c.-5692_-5691insTTTTATTTTATTTTG	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding		4975		chr17	TogoVar
CARD14_chr17_80165030_80214331	80170765	C C	CTCCCCTC others(8): Show CTCCCCTCCCCTCCCG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00408.hp2 others(101): Show HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02895.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04199.hp1 HG04199.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18948.hp1 NA18949.hp1 NA18952.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18968.hp1 NA18970.hp2 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18983.hp2 NA18984.hp1 NA18989.hp2 NA18991.hp1 NA18993.hp1 NA18999.hp2 NA19001.hp2 NA19003.hp2 NA19012.hp2 NA19043.hp1 NA19060.hp1 NA19084.hp1 NA19084.hp2 NA19091.hp2 NA20129.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011 a0015 a0016 a0017 a0018 a0019 a0023 a0024 a0025 a0026	a0001c0001 a0001c0007 a0001c0012 others(28): Show a0001c0001 a0001c0007 a0001c0012 a0001c0051 a0001c0069 a0002c0002 a0002c0005 a0003c0006 a0003c0010 a0003c0013 a0004c0003 a0004c0008 a0004c0052 a0005c0004 a0005c0014 a0005c0048 a0006c0009 a0006c0015 a0007c0011 a0007c0022 a0008c0018 a0011c0034 a0015c0033 a0016c0042 a0017c0068 a0018c0041 a0019c0047 a0023c0049 a0024c0060 a0025c0065 a0026c0043	a0001c0001t0002 a0001c0007t0002 a0001c0007t0004 others(31): Show a0001c0001t0002 a0001c0007t0002 a0001c0007t0004 a0001c0012t0001 a0001c0051t0001 a0001c0069t0002 a0002c0002t0001 a0002c0005t0001 a0003c0006t0001 a0003c0006t0007 a0003c0010t0011 a0003c0013t0002 a0004c0003t0001 a0004c0003t0010 a0004c0008t0001 a0004c0052t0001 a0005c0004t0001 a0005c0014t0002 a0005c0048t0001 a0006c0009t0001 a0006c0015t0001 a0007c0011t0003 a0007c0022t0020 a0008c0018t0001 a0011c0034t0001 a0015c0033t0001 a0016c0042t0002 a0017c0068t0007 a0018c0041t0001 a0019c0047t0001 a0023c0049t0004 a0024c0060t0002 a0025c0065t0021 a0026c0043t0001	a0001c0001t0002g0256 a0001c0001t0002g0285 a0001c0001t0002g0287 others(99): Show a0001c0001t0002g0256 a0001c0001t0002g0285 a0001c0001t0002g0287 a0001c0001t0002g0305 a0001c0001t0002g0311 a0001c0001t0002g0315 a0001c0001t0002g0326 a0001c0001t0002g0329 a0001c0001t0002g0337 a0001c0001t0002g0346 a0001c0007t0002g0011 a0001c0007t0002g0257 a0001c0007t0002g0280 a0001c0007t0002g0288 a0001c0007t0002g0293 a0001c0007t0002g0294 a0001c0007t0002g0295 a0001c0007t0002g0301 a0001c0007t0002g0303 a0001c0007t0004g0302 a0001c0012t0001g0308 a0001c0012t0001g0321 a0001c0012t0001g0344 a0001c0051t0001g0316 a0001c0069t0002g0289 a0002c0002t0001g0281 a0002c0002t0001g0286 a0002c0002t0001g0323 a0002c0005t0001g0282 a0002c0005t0001g0298 a0002c0005t0001g0322 a0003c0006t0001g0259 a0003c0006t0007g0260 a0003c0006t0007g0262 a0003c0006t0007g0263 a0003c0006t0007g0284 a0003c0010t0011g0265 a0003c0010t0011g0266 a0003c0013t0002g0267 a0003c0013t0002g0268 a0003c0013t0002g0277 a0003c0013t0002g0278 a0003c0013t0002g0283 a0003c0013t0002g0292 a0004c0003t0001g0319 a0004c0003t0001g0328 a0004c0003t0001g0338 a0004c0003t0001g0345 a0004c0003t0010g0334 a0004c0008t0001g0258 a0004c0008t0001g0261 a0004c0008t0001g0270 a0004c0008t0001g0271 a0004c0008t0001g0272 a0004c0008t0001g0279 a0004c0008t0001g0291 a0004c0008t0001g0297 a0004c0008t0001g0304 a0004c0008t0001g0313 a0004c0008t0001g0318 a0004c0052t0001g0317 a0005c0004t0001g0276 a0005c0004t0001g0290 a0005c0004t0001g0299 a0005c0004t0001g0307 a0005c0004t0001g0312 a0005c0004t0001g0320 a0005c0004t0001g0324 a0005c0004t0001g0330 a0005c0004t0001g0331 a0005c0004t0001g0332 a0005c0004t0001g0333 a0005c0004t0001g0339 a0005c0004t0001g0342 a0005c0004t0001g0343 a0005c0014t0002g0309 a0005c0048t0001g0306 a0006c0009t0001g0310 a0006c0009t0001g0340 a0006c0009t0001g0341 a0006c0015t0001g0300 a0007c0011t0003g0010 a0007c0011t0003g0248 a0007c0011t0003g0249 a0007c0011t0003g0250 a0007c0011t0003g0251 a0007c0011t0003g0253 a0007c0022t0020g0274 a0008c0018t0001g0254 a0008c0018t0001g0255 a0011c0034t0001g0325 a0011c0034t0001g0335 a0015c0033t0001g0327 a0015c0033t0001g0347 a0016c0042t0002g0273 a0017c0068t0007g0264 a0018c0041t0001g0314 a0019c0047t0001g0296 a0023c0049t0004g0252 a0024c0060t0002g0336 a0025c0065t0021g0275 a0026c0043t0001g0269	104	374	0.2781	15	c.-69 others(32): Show c.-690+738_-690+752dupCGTCCCCTCCCCTCC	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD14_chr17_80165030_80214331	80172872	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG01346.hp2 HG02630.hp1 others(1): Show HG00323.hp2 HG01346.hp2 HG02630.hp1 HG02970.hp2	a0003 a0005 a0007 a0003 a0005 a0007	a0003c0006 a0005c0048 a0007c0022 a0003c0006 a0005c0048 a0007c0022	a0003c0006t0007 a0005c0048t0001 a0007c0022t0020 a0003c0006t0007 a0005c0048t0001 a0007c0022t0020	a0003c0006t0007g0260 a0003c0006t0007g0262 a0005c0048t0001g0306 others(1): Show a0003c0006t0007g0260 a0003c0006t0007g0262 a0005c0048t0001g0306 a0007c0022t0020g0274	4	138	0.0290	15	c.-68 others(29): Show c.-689-22_-689-8dupTTTTTTTTTTTTTTT	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD19_chr9_93091217_93118283	93116911	A A	ACAGAGGC others(8): Show ACAGAGGCTGCAGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	356	0.0028	15	c.38 others(26): Show c.3804_*3805insCAGAGGCTGCAGCTG	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding		3629		chr9	TogoVar
CARD8_chr19_48203086_48260912	48207732	C C	CTGTTTTT others(8): Show CTGTTTTTTTTTGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01243.hp1 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0005 a0001c0003t0003 a0001c0003t0005	a0001c0003t0003g0052 a0001c0003t0005g0010 a0001c0003t0003g0052 a0001c0003t0005g0010	2	274	0.0073	15	c.39 others(26): Show c.3977_*3978insAAACAAAAAAAAACA	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding		353		chr19	TogoVar
CARD8_chr19_48203086_48260912	48207732	C C	CTGTTTTT others(8): Show CTGTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG01928.hp1 HG01952.hp2 others(27): Show HG00621.hp1 HG01928.hp1 HG01952.hp2 HG02055.hp1 HG02083.hp1 HG02280.hp1 HG02572.hp1 HG02630.hp2 HG02738.hp1 HG02965.hp1 HG03130.hp1 HG03225.hp2 HG03239.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 NA18956.hp1 NA18961.hp2 NA18972.hp1 NA18977.hp2 NA18981.hp1 NA18990.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA19067.hp1 NA19070.hp1 NA19070.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0004 a0001c0013 others(2): Show a0001c0003 a0001c0004 a0001c0013 a0002c0012 a0003c0006	a0001c0003t0003 a0001c0003t0007 a0001c0003t0014 others(12): Show a0001c0003t0003 a0001c0003t0007 a0001c0003t0014 a0001c0003t0015 a0001c0003t0022 a0001c0003t0028 a0001c0003t0029 a0001c0004t0003 a0001c0004t0007 a0001c0004t0015 a0001c0004t0039 a0001c0013t0015 a0002c0012t0003 a0003c0006t0003 a0003c0006t0016	a0001c0003t0003g0008 a0001c0003t0003g0049 a0001c0003t0003g0103 others(26): Show a0001c0003t0003g0008 a0001c0003t0003g0049 a0001c0003t0003g0103 a0001c0003t0003g0104 a0001c0003t0003g0109 a0001c0003t0007g0020 a0001c0003t0007g0140 a0001c0003t0014g0059 a0001c0003t0015g0058 a0001c0003t0015g0098 a0001c0003t0022g0028 a0001c0003t0028g0065 a0001c0003t0029g0253 a0001c0004t0003g0158 a0001c0004t0007g0192 a0001c0004t0015g0157 a0001c0004t0039g0044 a0001c0013t0015g0078 a0002c0012t0003g0111 a0002c0012t0003g0113 a0003c0006t0003g0055 a0003c0006t0003g0152 a0003c0006t0003g0172 a0003c0006t0003g0173 a0003c0006t0003g0174 a0003c0006t0003g0175 a0003c0006t0003g0176 a0003c0006t0016g0248 a0003c0006t0016g0279	30	302	0.0993	15	c.39 others(26): Show c.3963_*3977dupAAAAAAAAAAAAACA	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding		353		chr19	TogoVar
CARD8_chr19_48203086_48260912	48207734	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG00738.hp2 others(7): Show HG00140.hp1 HG00558.hp2 HG00738.hp2 HG01099.hp2 HG01943.hp1 HG02300.hp2 NA18975.hp2 NA18997.hp2 NA19001.hp2 NA19086.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0004 a0003c0006 a0001c0003 a0001c0004 a0003c0006	a0001c0003t0003 a0001c0003t0005 a0001c0003t0025 others(5): Show a0001c0003t0003 a0001c0003t0005 a0001c0003t0025 a0001c0003t0041 a0001c0004t0003 a0001c0004t0014 a0001c0004t0024 a0003c0006t0007	a0001c0003t0003g0105 a0001c0003t0005g0010 a0001c0003t0005g0063 others(7): Show a0001c0003t0003g0105 a0001c0003t0005g0010 a0001c0003t0005g0063 a0001c0003t0005g0072 a0001c0003t0025g0141 a0001c0003t0041g0066 a0001c0004t0003g0019 a0001c0004t0014g0092 a0001c0004t0024g0148 a0003c0006t0007g0057	10	191	0.0524	15	c.39 others(26): Show c.3975_*3976insACAAAAAAAAAAAAA	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding		351		chr19	TogoVar
CARD8_chr19_48203086_48260912	48220952	G G	GAAAGGAA others(8): Show GAAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00438.hp1 others(25): Show HG00280.hp1 HG00408.hp2 HG00438.hp1 HG01070.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG02083.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02486.hp2 HG03453.hp1 HG03654.hp2 HG03669.hp1 HG03927.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18943.hp1 NA18956.hp2 NA18963.hp1 NA18964.hp1 NA18986.hp2 NA18998.hp1 NA19006.hp1 NA19081.hp1 NA20129.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0002 a0001c0010 a0002c0001 others(2): Show a0001c0002 a0001c0010 a0002c0001 a0005c0016 a0007c0017	a0001c0002t0001 a0001c0002t0013 a0001c0010t0001 others(12): Show a0001c0002t0001 a0001c0002t0013 a0001c0010t0001 a0002c0001t0001 a0002c0001t0004 a0002c0001t0010 a0002c0001t0013 a0002c0001t0017 a0002c0001t0019 a0002c0001t0020 a0002c0001t0033 a0002c0001t0051 a0002c0001t0052 a0005c0016t0001 a0007c0017t0001	a0001c0002t0001g0196 a0001c0002t0013g0209 a0001c0002t0013g0210 others(24): Show a0001c0002t0001g0196 a0001c0002t0013g0209 a0001c0002t0013g0210 a0001c0010t0001g0100 a0001c0010t0001g0101 a0002c0001t0001g0013 a0002c0001t0001g0043 a0002c0001t0001g0080 a0002c0001t0001g0087 a0002c0001t0001g0095 a0002c0001t0001g0135 a0002c0001t0001g0156 a0002c0001t0001g0214 a0002c0001t0004g0029 a0002c0001t0004g0031 a0002c0001t0004g0258 a0002c0001t0010g0267 a0002c0001t0010g0272 a0002c0001t0013g0120 a0002c0001t0017g0246 a0002c0001t0019g0035 a0002c0001t0020g0045 a0002c0001t0033g0110 a0002c0001t0051g0260 a0002c0001t0052g0262 a0005c0016t0001g0217 a0007c0017t0001g0122	28	259	0.1081	15	c.116 others(32): Show c.1161+777_1161+778insTTCCTTCCTTCCTTT	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	11/13			chr19	TogoVar
CARD8_chr19_48203086_48260912	48220954	A A	AAGGAAGG others(8): Show AAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp2 HG00673.hp2 others(35): Show HG00099.hp1 HG00621.hp2 HG00673.hp2 HG00733.hp2 HG01081.hp2 HG01175.hp2 HG01261.hp2 HG01515.hp2 HG01517.hp1 HG02027.hp1 HG02040.hp1 HG02155.hp2 HG02258.hp1 HG02602.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02896.hp2 HG03195.hp2 HG03453.hp2 HG03579.hp1 NA18522.hp1 NA18945.hp2 NA18954.hp2 NA18970.hp1 NA18971.hp2 NA18977.hp2 NA18983.hp1 NA18986.hp1 NA18991.hp2 NA19009.hp2 NA19043.hp1 NA19056.hp1 NA19062.hp1 NA19067.hp2 NA19068.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0012	a0001c0002 a0001c0004 a0002c0001 others(2): Show a0001c0002 a0001c0004 a0002c0001 a0006c0014 a0012c0026	a0001c0002t0002 a0001c0002t0006 a0001c0002t0011 others(12): Show a0001c0002t0002 a0001c0002t0006 a0001c0002t0011 a0001c0002t0012 a0001c0002t0031 a0001c0002t0038 a0001c0002t0048 a0001c0002t0056 a0001c0004t0003 a0001c0004t0007 a0001c0004t0040 a0002c0001t0001 a0002c0001t0004 a0006c0014t0026 a0012c0026t0002	a0001c0002t0002g0022 a0001c0002t0002g0024 a0001c0002t0002g0077 others(32): Show a0001c0002t0002g0022 a0001c0002t0002g0024 a0001c0002t0002g0077 a0001c0002t0002g0084 a0001c0002t0002g0167 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0186 a0001c0002t0002g0190 a0001c0002t0002g0212 a0001c0002t0002g0223 a0001c0002t0006g0144 a0001c0002t0006g0185 a0001c0002t0006g0191 a0001c0002t0006g0199 a0001c0002t0011g0249 a0001c0002t0011g0256 a0001c0002t0011g0288 a0001c0002t0012g0014 a0001c0002t0012g0088 a0001c0002t0012g0089 a0001c0002t0031g0090 a0001c0002t0038g0091 a0001c0002t0048g0250 a0001c0002t0056g0295 a0001c0004t0003g0015 a0001c0004t0003g0026 a0001c0004t0003g0179 a0001c0004t0007g0192 a0001c0004t0040g0207 a0002c0001t0001g0216 a0002c0001t0004g0032 a0002c0001t0004g0273 a0006c0014t0026g0040 a0012c0026t0002g0204	38	140	0.2714	15	c.116 others(32): Show c.1161+775_1161+776insCCTTCCTTCCTTCCT	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	11/13			chr19	TogoVar
CARHSP1_chr16_8847947_8874006	8851977	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00639.hp2 NA18940.hp2 others(3): Show HG00323.hp1 HG00639.hp2 NA18940.hp2 NA19087.hp2 NA19090.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0026 a0001c0002t0002g0104 others(3): Show a0001c0002t0002g0002 a0001c0002t0002g0026 a0001c0002t0002g0104 a0001c0002t0002g0135 a0001c0002t0002g0158 a0001c0002t0002g0229	6	81	0.0741	15	c.31 others(26): Show c.3172_*3186dupAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding		969		chr16	TogoVar

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