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
CA5A_chr16_87883013_87941529	87939963	C C	CGATAGAT others(13): Show CGATAGATAGATAGATAGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(56): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00438.hp1 HG00609.hp2 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01243.hp1 HG01255.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01891.hp2 HG01928.hp2 HG01993.hp1 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp2 HG02809.hp2 HG02896.hp1 HG02922.hp1 HG03017.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18954.hp2 NA18977.hp2 NA18979.hp1 NA18997.hp2 NA19012.hp2 NA19030.hp2 NA19060.hp2 NA19066.hp1 NA19082.hp1 NA19085.hp2 NA19090.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005 a0003c0006 a0003c0009 a0004c0008 a0005c0007	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0003t0002 a0001c0004t0001 a0002c0005t0001 a0003c0006t0001 a0003c0009t0002 a0004c0008t0001 a0005c0007t0001	a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 others(56): Show a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0069 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0147 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0195 a0001c0001t0001g0239 a0001c0001t0001g0249 a0001c0001t0001g0255 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0282 a0001c0001t0001g0364 a0001c0001t0001g0372 a0001c0001t0001g0374 a0001c0001t0001g0379 a0001c0001t0001g0384 a0001c0001t0003g0287 a0001c0002t0002g0033 a0001c0002t0002g0182 a0001c0002t0002g0231 a0001c0002t0002g0246 a0001c0002t0002g0258 a0001c0002t0002g0275 a0001c0003t0002g0042 a0001c0003t0002g0076 a0001c0003t0002g0378 a0001c0003t0002g0380 a0001c0004t0001g0035 a0002c0005t0001g0015 a0002c0005t0001g0022 a0003c0006t0001g0005 a0003c0006t0001g0011 a0003c0006t0001g0012 a0003c0009t0002g0009 a0004c0008t0001g0053 a0005c0007t0001g0108	59	243	0.2428	20	c.-35 others(31): Show c.-3514_-3513insTATCTATCTATCTATCTATC	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding		3435		chr16	TogoVar
CA6_chr1_8940868_8980092	8960789	C C	CACACACA others(13): Show CACACACACACACATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02895.hp1 HG02630.hp1 HG02895.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0139 a0005c0009t0001g0294 a0005c0009t0001g0139 a0005c0009t0001g0294	2	33	0.0606	20	c.501 others(37): Show c.501+1788_501+1789insCACACACACACATATATATA	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CA6_chr1_8940868_8980092	8960789	C C	CACACACA others(13): Show CACACACACACATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG01257.hp1 others(9): Show HG00558.hp2 HG00639.hp1 HG01257.hp1 HG01261.hp2 NA18942.hp1 NA18948.hp1 NA18950.hp1 NA18965.hp1 NA18968.hp1 NA18978.hp2 NA19004.hp1 NA19078.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0002c0003t0005 a0001c0001t0001 a0002c0003t0001 a0002c0003t0005	a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0271 others(9): Show a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0288 a0001c0001t0001g0377 a0002c0003t0001g0063 a0002c0003t0001g0105 a0002c0003t0005g0066	12	43	0.2791	20	c.501 others(37): Show c.501+1788_501+1789insCACACACACATATATATATA	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CA6_chr1_8940868_8980092	8977700	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02723.hp1 HG03491.hp1 others(4): Show HG02559.hp1 HG02723.hp1 HG03491.hp1 HG04199.hp1 NA18970.hp1 NA18971.hp2 NA18991.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0011 a0002c0005 others(1): Show a0001c0002 a0001c0011 a0002c0005 a0004c0007	a0001c0002t0001 a0001c0011t0001 a0002c0005t0001 others(1): Show a0001c0002t0001 a0001c0011t0001 a0002c0005t0001 a0004c0007t0001	a0001c0002t0001g0001 a0001c0002t0001g0226 a0001c0002t0001g0261 others(4): Show a0001c0002t0001g0001 a0001c0002t0001g0226 a0001c0002t0001g0261 a0001c0011t0001g0136 a0002c0005t0001g0080 a0002c0005t0001g0123 a0004c0007t0001g0020	7	113	0.0619	20	c.29 others(31): Show c.2996_*2997insAAAGAAAGAAAGAAAGAAAG	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding		2609		chr1	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0142 a0001c0003t0013g0142	1	203	0.0049	20	c.36 others(35): Show c.36-973_*36-972insGTATATATATATATATATAT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CAAP1_chr9_26835685_26897802	26871914	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG02572.hp2 others(2): Show HG01891.hp1 HG02451.hp2 HG02572.hp2 HG03098.hp2 NA19030.hp1	a0002 a0002	a0002c0003 a0002c0007 a0002c0003 a0002c0007	a0002c0003t0001 a0002c0007t0011 a0002c0003t0001 a0002c0007t0011	a0002c0003t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0026 others(2): Show a0002c0003t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0026 a0002c0003t0001g0037 a0002c0007t0011g0029	5	349	0.0143	20	c.666 others(39): Show c.666-10795_666-10776dupATTTATTTATTTATTTATTT	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	4/5			chr9	TogoVar
CAAP1_chr9_26835685_26897802	26872553	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03471.hp1 NA18906.hp1 HG03041.hp2 HG03471.hp1 NA18906.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0021 a0002c0003t0001g0032 a0002c0003t0001g0034 a0002c0003t0001g0021 a0002c0003t0001g0032 a0002c0003t0001g0034	3	320	0.0094	20	c.666 others(39): Show c.666-11434_666-11415dupATATATATATATATATATAT	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	4/5			chr9	TogoVar
CAB39L_chr13_49303650_49449064	49346100	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01192.hp2 HG01928.hp2 others(16): Show HG01081.hp2 HG01192.hp2 HG01928.hp2 HG01934.hp2 HG02056.hp1 HG02132.hp1 HG02273.hp1 HG02300.hp2 HG02572.hp1 HG02572.hp2 HG03139.hp1 NA18942.hp1 NA18948.hp1 NA18965.hp2 NA18969.hp1 NA18977.hp2 NA19005.hp1 NA19060.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006	a0001c0001t0001g0312 a0001c0001t0003g0041 a0001c0002t0001g0071 others(16): Show a0001c0001t0001g0312 a0001c0001t0003g0041 a0001c0002t0001g0071 a0001c0002t0001g0137 a0001c0002t0001g0147 a0001c0002t0001g0152 a0001c0002t0001g0173 a0001c0002t0001g0193 a0001c0002t0002g0075 a0001c0002t0002g0082 a0001c0002t0002g0148 a0001c0002t0002g0168 a0001c0002t0002g0182 a0001c0002t0002g0220 a0001c0002t0002g0245 a0001c0002t0002g0248 a0001c0002t0002g0257 a0001c0002t0005g0201 a0001c0002t0006g0288	19	181	0.1050	20	c.565 others(37): Show c.565-1882_565-1863dupATATATATATATATATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49376891	G G	GTAGATAG others(13): Show GTAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00639.hp1 others(67): Show HG00099.hp2 HG00280.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01106.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02615.hp1 HG02698.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG03017.hp1 HG03041.hp1 HG03239.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp2 NA18948.hp2 NA18953.hp2 NA18969.hp2 NA18995.hp1 NA18999.hp2 NA19009.hp2 NA19012.hp2 NA19091.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0020	a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0077 others(67): Show a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0077 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0001g0200 a0001c0001t0001g0209 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0261 a0001c0001t0001g0296 a0001c0001t0001g0316 a0001c0001t0002g0052 a0001c0001t0002g0127 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0178 a0001c0001t0002g0185 a0001c0001t0002g0191 a0001c0001t0002g0208 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0238 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0311 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0010 a0001c0001t0003g0018 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0036 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0043 a0001c0001t0004g0048 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0206 a0001c0001t0004g0293 a0001c0001t0004g0295 a0001c0001t0005g0057 a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0117 a0001c0001t0005g0213 a0001c0001t0005g0214 a0001c0001t0005g0233 a0001c0001t0006g0132 a0001c0001t0006g0280 a0001c0001t0006g0282 a0001c0001t0010g0056 a0001c0001t0020g0011	70	220	0.3182	20	c.276 others(33): Show c.276+56_276+75dupTCTATCTATCTATCTATCTA	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	5/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49405719	G G	GAGAGAGG others(13): Show GAGAGAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18906.hp1 HG02280.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0004 a0001c0001t0006 a0001c0002t0004	a0001c0001t0006g0135 a0001c0002t0004g0207 a0001c0001t0006g0135 a0001c0002t0004g0207	2	212	0.0094	20	c.-31 others(39): Show c.-31-22779_-31-22778insTCCTTCCTTCCTTCCTCTCT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	3/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49441219	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0269 a0001c0002t0001g0269	1	321	0.0031	20	c.-24 others(39): Show c.-246+2766_-246+2767insTATATATATATATATATATA	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	1/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49441221	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp1 HG02922.hp1 others(2): Show HG02145.hp1 HG02622.hp1 HG02922.hp1 HG03139.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0007	a0001c0001t0002g0113 a0001c0001t0002g0317 a0001c0001t0004g0293 others(2): Show a0001c0001t0002g0113 a0001c0001t0002g0317 a0001c0001t0004g0293 a0001c0002t0001g0276 a0001c0002t0007g0321	5	192	0.0260	20	c.-24 others(39): Show c.-246+2745_-246+2764dupTATATATATATATATATATA	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	1/10			chr13	TogoVar
CAB39_chr2_230707842_230826075	230748825	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0329 a0001c0001t0002g0329	1	326	0.0031	20	c.-43 others(39): Show c.-43-11133_-43-11132insTATATATATATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748831	A A	AAAAAAAA others(13): Show AAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0303 a0001c0001t0002g0303	1	149	0.0067	20	c.-43 others(39): Show c.-43-11127_-43-11126insAAAAAAAATATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748831	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0275 a0001c0001t0002g0275	1	149	0.0067	20	c.-43 others(39): Show c.-43-11127_-43-11126insAATATATATATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230773312	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0183 a0001c0001t0064g0183	1	300	0.0033	20	c.114 others(39): Show c.114+13198_114+13199insGTGTGTGTGTGTGTGTGTGT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230782809	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18993.hp1 NA19082.hp2 NA18943.hp1 NA18993.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0214 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0214 a0001c0001t0003g0220 a0001c0001t0003g0221	3	248	0.0121	20	c.115 others(37): Show c.115-8060_115-8059insTTTTTTTTTTTTTTTTTTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230783442	A A	AGTTTTGT others(13): Show AGTTTTGTTTTGTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp2 HG00642.hp2 others(12): Show HG00597.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG02109.hp2 HG02451.hp2 HG02523.hp1 HG02630.hp1 HG02735.hp2 HG02965.hp1 HG03130.hp1 NA18522.hp1 NA18971.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0019 a0001c0001t0030 a0001c0001t0043	a0001c0001t0001g0261 a0001c0001t0001g0266 a0001c0001t0001g0286 others(12): Show a0001c0001t0001g0261 a0001c0001t0001g0266 a0001c0001t0001g0286 a0001c0001t0001g0292 a0001c0001t0001g0317 a0001c0001t0002g0272 a0001c0001t0002g0287 a0001c0001t0004g0048 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0007g0141 a0001c0001t0011g0050 a0001c0001t0019g0023 a0001c0001t0030g0233 a0001c0001t0043g0009	15	23	0.6522	20	c.115 others(37): Show c.115-7410_115-7391dupTGTTTTGTTTTGTTTTGTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CABCOCO1_chr10_61657929_61771766	61669020	G G	GAAAAAAA others(13): Show GAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA19240.hp1 HG01109.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0017 a0001c0002t0001g0082 a0001c0001t0001g0017 a0001c0002t0001g0082	2	162	0.0123	20	c.61- others(35): Show c.61-3599_61-3598insAAAAAAAAAAAAAAAAAAAA	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABCOCO1_chr10_61657929_61771766	61680695	T T	TATATGTT others(13): Show TATATGTTATACATGTATAAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19060.hp2 HG03098.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0286 a0001c0001t0001g0192 a0001c0001t0001g0286	2	372	0.0054	20	c.165 others(35): Show c.165-444_165-443insGTTATACATGTATAACATAT	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABCOCO1_chr10_61657929_61771766	61720917	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0019 a0001c0002t0006g0021 a0001c0002t0006g0019 a0001c0002t0006g0021	2	114	0.0175	20	c.552 others(39): Show c.552+30302_552+30321dupTTTTTTTTTTTTTTTTTTTT	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABIN1_chr22_24006304_24183628	24011117	A A	ACACACAC others(13): Show ACACACACGCACACGCACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0021	1	76	0.0132	20	c.-32 others(29): Show c.-325_-324insCACACACGCACACGCACACG	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		186		chr22	TogoVar
CABIN1_chr22_24006304_24183628	24042818	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA18939.hp2 NA18961.hp1 others(1): Show HG03654.hp1 NA18939.hp2 NA18961.hp1 NA18966.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0014 others(1): Show a0001c0001 a0001c0003 a0001c0014 a0004c0006	a0001c0001t0001 a0001c0003t0001 a0001c0014t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0014t0001 a0004c0006t0001	a0001c0001t0001g0058 a0001c0003t0001g0144 a0001c0014t0001g0143 others(1): Show a0001c0001t0001g0058 a0001c0003t0001g0144 a0001c0014t0001g0143 a0004c0006t0001g0063	4	46	0.0870	20	c.346 others(33): Show c.346-46_346-27dupGTGTGTGTGTGTGTGTGTGT	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABIN1_chr22_24006304_24183628	24136524	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp2 HG02572.hp2 HG02717.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0265 a0008c0015t0001g0266 a0008c0015t0001g0265 a0008c0015t0001g0266	2	100	0.0200	20	c.474 others(39): Show c.4746+2114_4746+2133dupTTTTTTTTTTTTTTTTTTTT	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	29/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABLES1_chr18_23130485_23265470	23188543	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01981.hp2 HG04115.hp2 HG01884.hp1 HG01981.hp2 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0017 a0001c0001t0001 a0002c0002t0017	a0001c0001t0001g0058 a0001c0001t0001g0061 a0002c0002t0017g0120 a0001c0001t0001g0058 a0001c0001t0001g0061 a0002c0002t0017g0120	3	209	0.0144	20	c.846 others(35): Show c.846-291_846-272dupGTGTGTGTGTGTGTGTGTGT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES2_chr20_62383634_62412285	62399240	A A	ATATTTTA others(13): Show ATATTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp1 HG00741.hp2 others(22): Show HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01175.hp1 HG01255.hp2 HG02148.hp1 HG02258.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02683.hp1 HG02717.hp1 HG02895.hp2 HG03098.hp1 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03579.hp1 HG03688.hp1 HG03710.hp1 HG06807.hp2 NA18906.hp2 NA19043.hp2	a0001 a0005 a0001 a0005	a0001c0005 a0001c0011 a0005c0014 a0001c0005 a0001c0011 a0005c0014	a0001c0005t0004 a0001c0011t0004 a0005c0014t0015 a0001c0005t0004 a0001c0011t0004 a0005c0014t0015	a0001c0005t0004g0012 a0001c0005t0004g0015 a0001c0005t0004g0025 others(9): Show a0001c0005t0004g0012 a0001c0005t0004g0015 a0001c0005t0004g0025 a0001c0005t0004g0028 a0001c0005t0004g0051 a0001c0005t0004g0052 a0001c0005t0004g0198 a0001c0005t0004g0199 a0001c0005t0004g0200 a0001c0011t0004g0212 a0001c0011t0004g0213 a0005c0014t0015g0062	25	294	0.0850	20	c.363 others(37): Show c.363-2649_363-2648insAAATAAAATAAAATAAAATA	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABP5_chr19_48024383_48049079	48029794	C C	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01346.hp1 HG02735.hp2 HG01346.hp1 HG02735.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0013 a0002c0003t0013	a0002c0003t0013g0073 a0002c0003t0013g0075 a0002c0003t0013g0073 a0002c0003t0013g0075	2	349	0.0057	20	c.76 others(29): Show c.762_*763insCTCTCTCTCTCTCTCTCTCT	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	6/6	762		chr19	TogoVar
CABP5_chr19_48024383_48049079	48029798	C C	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp2 HG01891.hp2 HG02683.hp1 others(2): Show HG01192.hp2 HG01891.hp2 HG02683.hp1 HG03579.hp1 HG03942.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0005 a0002c0003 a0003c0004 others(1): Show a0001c0005 a0002c0003 a0003c0004 a0007c0009	a0001c0005t0008 a0002c0003t0003 a0003c0004t0004 others(1): Show a0001c0005t0008 a0002c0003t0003 a0003c0004t0004 a0007c0009t0002	a0001c0005t0008g0017 a0002c0003t0003g0015 a0002c0003t0003g0074 others(2): Show a0001c0005t0008g0017 a0002c0003t0003g0015 a0002c0003t0003g0074 a0003c0004t0004g0165 a0007c0009t0002g0088	5	87	0.0575	20	c.73 others(29): Show c.739_*758dupCTCTCTCTCTCTCTCTCTCT	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	6/6	758		chr19	TogoVar
CABP5_chr19_48024383_48049079	48029828	G G	GAGAGAGA others(13): Show GAGAGAGAGACAGAGAGAGAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0161 a0001c0001t0021g0161	1	364	0.0027	20	c.72 others(29): Show c.728_*729insGTCTCTCTCTGTCTCTCTCT	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	6/6	728		chr19	TogoVar
CABP5_chr19_48024383_48049079	48041155	C C	CAGCCTGG others(13): Show CAGCCTGGCAACAAGAGCAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	374	0.0027	20	c.94+ others(33): Show c.94+398_95-408dupTTTGCTCTTGTTGCCAGGCT	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	2/5			chr19	TogoVar
CABS1_chr4_70329981_70342116	70340742	C C	CTATTTAT others(13): Show CTATTTATTTATTTATTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01167.hp2 HG01496.hp2 others(1): Show HG00642.hp2 HG01167.hp2 HG01496.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0002g0002 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0002g0002	4	50	0.0800	20	c.38 others(31): Show c.3896_*3897insTATTTATTTATTTATTTATT	CABS1	ENSG00000145309.6	transcript	ENST00000273936.6	protein_coding		3627		chr4	TogoVar
CACFD1_chr9_133454978_133475848	133460468	G G	GCGGCGGG others(13): Show GCGGCGGGGGCGGGGGGCGGC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	417	0.0024	20	c.121 others(35): Show c.121+281_121+282insCGGCGGGGGCGGGGGGCGGC	CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding	1/4			chr9	TogoVar
CACHD1_chr1_64465129_64698053	64543402	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03486.hp1 NA21309.hp1 HG03139.hp1 HG03486.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0029 a0001c0002t0001g0102 a0001c0002t0001g0166 a0001c0001t0002g0029 a0001c0002t0001g0102 a0001c0002t0001g0166	3	17	0.1765	20	c.199 others(37): Show c.199-7187_199-7168dupATATATATATATATATATAT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64606106	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02280.hp1 HG02486.hp1 others(1): Show HG01261.hp1 HG02280.hp1 HG02486.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0012 a0001c0002t0001 a0001c0003t0001 a0001c0001t0012 a0001c0002t0001 a0001c0003t0001	a0001c0001t0012g0048 a0001c0002t0001g0030 a0001c0002t0001g0031 others(1): Show a0001c0001t0012g0048 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0003t0001g0051	4	84	0.0476	20	c.517 others(37): Show c.517+3199_517+3218dupACACACACACACACACACAC	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1A_chr19_13201442_13511479	13202316	C C	CTATCTAT others(13): Show CTATCTATCTATCTATCTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01934.hp1 HG02055.hp1 others(14): Show HG01192.hp2 HG01934.hp1 HG02055.hp1 HG02109.hp1 HG02559.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02895.hp1 HG02976.hp1 HG03130.hp2 HG03139.hp2 HG03453.hp2 HG03669.hp2 NA18747.hp1 NA18906.hp1 NA18948.hp2	a0001 a0003 a0005 others(6): Show a0001 a0003 a0005 a0010 a0011 a0020 a0032 a0033 a0034	a0001c0005 a0001c0006 a0001c0126 others(12): Show a0001c0005 a0001c0006 a0001c0126 a0003c0015 a0003c0039 a0003c0056 a0003c0077 a0003c0105 a0005c0102 a0010c0128 a0011c0043 a0020c0021 a0032c0113 a0033c0097 a0034c0081	a0001c0005t0001 a0001c0006t0001 a0001c0006t0013 others(13): Show a0001c0005t0001 a0001c0006t0001 a0001c0006t0013 a0001c0126t0007 a0003c0015t0001 a0003c0039t0001 a0003c0056t0002 a0003c0077t0003 a0003c0105t0006 a0005c0102t0002 a0010c0128t0001 a0011c0043t0001 a0020c0021t0001 a0032c0113t0003 a0033c0097t0001 a0034c0081t0008	a0001c0005t0001g0201 a0001c0005t0001g0202 a0001c0006t0001g0184 others(14): Show a0001c0005t0001g0201 a0001c0005t0001g0202 a0001c0006t0001g0184 a0001c0006t0013g0136 a0001c0126t0007g0006 a0003c0015t0001g0018 a0003c0039t0001g0074 a0003c0056t0002g0065 a0003c0077t0003g0023 a0003c0105t0006g0143 a0005c0102t0002g0122 a0010c0128t0001g0139 a0011c0043t0001g0036 a0020c0021t0001g0045 a0032c0113t0003g0096 a0033c0097t0001g0054 a0034c0081t0008g0152	17	181	0.0939	20	c.49 others(31): Show c.4996_*4997insCACAGATAGATAGATAGATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		4125		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13212827	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0108 a0003c0108	a0003c0108t0005 a0003c0108t0005	a0003c0108t0005g0210 a0003c0108t0005g0210	1	109	0.0092	20	c.594 others(36): Show c.5941-107_5941-88dupGTGTGTGTGTGTGTGTGTGT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	40/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13255705	T T	TTCCCTCC others(13): Show TTCCCTCCCTCCCTCCTTCTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00639.hp1 HG00738.hp1 others(41): Show HG00438.hp1 HG00639.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01099.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01256.hp2 HG01261.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG02109.hp2 HG02293.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02723.hp1 HG03130.hp1 HG03139.hp1 HG03471.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18946.hp2 NA18955.hp2 NA18964.hp1 NA19030.hp2 NA19043.hp2 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0010 a0011 a0013 a0015 a0021 a0032 a0044	a0001c0001 a0001c0004 a0001c0005 others(29): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0031 a0001c0034 a0001c0072 a0001c0125 a0002c0002 a0002c0003 a0002c0010 a0002c0030 a0002c0050 a0002c0114 a0002c0124 a0003c0013 a0003c0015 a0003c0054 a0003c0110 a0004c0007 a0005c0066 a0008c0011 a0008c0060 a0009c0076 a0010c0107 a0011c0025 a0013c0048 a0013c0115 a0015c0088 a0021c0028 a0032c0113 a0044c0052	a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 others(30): Show a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0031t0003 a0001c0034t0001 a0001c0072t0003 a0001c0125t0003 a0002c0002t0002 a0002c0003t0002 a0002c0010t0002 a0002c0030t0002 a0002c0050t0002 a0002c0114t0002 a0002c0124t0002 a0003c0013t0002 a0003c0015t0001 a0003c0015t0002 a0003c0054t0004 a0003c0110t0002 a0004c0007t0001 a0005c0066t0001 a0008c0011t0002 a0008c0060t0002 a0009c0076t0002 a0010c0107t0007 a0011c0025t0001 a0013c0048t0001 a0013c0115t0001 a0015c0088t0001 a0021c0028t0002 a0032c0113t0003 a0044c0052t0002	a0001c0001t0001g0183 a0001c0004t0001g0080 a0001c0004t0001g0114 others(41): Show a0001c0001t0001g0183 a0001c0004t0001g0080 a0001c0004t0001g0114 a0001c0005t0001g0201 a0001c0005t0001g0202 a0001c0005t0001g0204 a0001c0006t0001g0110 a0001c0006t0001g0217 a0001c0031t0003g0123 a0001c0031t0003g0215 a0001c0034t0001g0079 a0001c0072t0003g0212 a0001c0125t0003g0213 a0002c0002t0002g0089 a0002c0002t0002g0094 a0002c0003t0002g0086 a0002c0003t0002g0112 a0002c0003t0002g0131 a0002c0010t0002g0066 a0002c0030t0002g0157 a0002c0030t0002g0165 a0002c0050t0002g0088 a0002c0114t0002g0189 a0002c0124t0002g0132 a0003c0013t0002g0064 a0003c0015t0001g0018 a0003c0015t0002g0119 a0003c0015t0002g0166 a0003c0054t0004g0053 a0003c0110t0002g0137 a0004c0007t0001g0105 a0005c0066t0001g0024 a0008c0011t0002g0134 a0008c0060t0002g0017 a0009c0076t0002g0109 a0010c0107t0007g0004 a0011c0025t0001g0093 a0013c0048t0001g0140 a0013c0115t0001g0068 a0015c0088t0001g0207 a0021c0028t0002g0073 a0021c0028t0002g0084 a0032c0113t0003g0096 a0044c0052t0002g0155	44	216	0.2037	20	c.459 others(37): Show c.4591-466_4591-447dupGAGAAGGAGGGAGGGAGGGA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	28/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13255725	C C	CTCCTTCC others(13): Show CTCCTTCCCTCCCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03195.hp2 HG02451.hp2 HG03195.hp2	a0018 a0018	a0018c0017 a0018c0017	a0018c0017t0004 a0018c0017t0004	a0018c0017t0004g0211 a0018c0017t0004g0216 a0018c0017t0004g0211 a0018c0017t0004g0216	2	216	0.0093	20	c.459 others(37): Show c.4591-467_4591-466insAGGAGGGAGGGAGGGAAGGA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	28/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13294487	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0069 a0001c0020t0001g0069	1	72	0.0139	20	c.308 others(39): Show c.3089+4037_3089+4056dupAAAAAAAAAAAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	19/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310485	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18979.hp1 HG02622.hp1 NA18979.hp1	a0010 a0022 a0010 a0022	a0010c0128 a0022c0109 a0010c0128 a0022c0109	a0010c0128t0001 a0022c0109t0001 a0010c0128t0001 a0022c0109t0001	a0010c0128t0001g0139 a0022c0109t0001g0198 a0010c0128t0001g0139 a0022c0109t0001g0198	2	163	0.0123	20	c.166 others(39): Show c.1669-1958_1669-1957insATATATATATATATATATAT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310487	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03704.hp2 NA19000.hp1 others(2): Show HG03688.hp1 HG03704.hp2 NA19000.hp1 NA19043.hp1 NA19065.hp1	a0001 a0003 a0017 others(1): Show a0001 a0003 a0017 a0042	a0001c0034 a0003c0013 a0003c0110 others(2): Show a0001c0034 a0003c0013 a0003c0110 a0017c0074 a0042c0045	a0001c0034t0001 a0003c0013t0002 a0003c0110t0002 others(2): Show a0001c0034t0001 a0003c0013t0002 a0003c0110t0002 a0017c0074t0005 a0042c0045t0001	a0001c0034t0001g0052 a0003c0013t0002g0041 a0003c0110t0002g0137 others(2): Show a0001c0034t0001g0052 a0003c0013t0002g0041 a0003c0110t0002g0137 a0017c0074t0005g0162 a0042c0045t0001g0173	5	126	0.0397	20	c.166 others(39): Show c.1669-1960_1669-1959insATATATATATATATATATAT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310489	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02129.hp2 NA20905.hp2 HG02056.hp2 HG02129.hp2 NA20905.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0009 a0002c0002 a0006c0009	a0002c0002t0002 a0006c0009t0002 a0002c0002t0002 a0006c0009t0002	a0002c0002t0002g0129 a0006c0009t0002g0032 a0006c0009t0002g0055 a0002c0002t0002g0129 a0006c0009t0002g0032 a0006c0009t0002g0055	3	82	0.0366	20	c.166 others(39): Show c.1669-1962_1669-1961insATATATATATATATATATTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13318890	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01978.hp2 HG02040.hp1 others(9): Show HG00609.hp1 HG01978.hp2 HG02040.hp1 HG02055.hp2 HG02559.hp2 HG02896.hp2 HG02976.hp2 HG03688.hp2 NA18944.hp2 NA18975.hp1 NA18975.hp2 NA18998.hp1	a0001 a0005 a0014 others(3): Show a0001 a0005 a0014 a0022 a0028 a0040	a0001c0001 a0001c0005 a0001c0026 others(7): Show a0001c0001 a0001c0005 a0001c0026 a0001c0122 a0005c0022 a0005c0024 a0014c0027 a0022c0079 a0028c0112 a0040c0119	a0001c0001t0001 a0001c0005t0001 a0001c0026t0014 others(7): Show a0001c0001t0001 a0001c0005t0001 a0001c0026t0014 a0001c0122t0001 a0005c0022t0001 a0005c0024t0001 a0014c0027t0001 a0022c0079t0002 a0028c0112t0005 a0040c0119t0012	a0001c0001t0001g0038 a0001c0005t0001g0135 a0001c0005t0001g0179 others(9): Show a0001c0001t0001g0038 a0001c0005t0001g0135 a0001c0005t0001g0179 a0001c0026t0014g0104 a0001c0122t0001g0176 a0005c0022t0001g0108 a0005c0024t0001g0214 a0014c0027t0001g0116 a0014c0027t0001g0182 a0022c0079t0002g0059 a0028c0112t0005g0205 a0040c0119t0012g0130	12	78	0.1538	20	c.134 others(39): Show c.1346-1570_1346-1569insAAAAAAAAAAAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	10/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13336594	G G	GGAGAGAG others(13): Show GGAGAGAGAGGGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp2 HG00735.hp1 others(8): Show HG00099.hp2 HG00609.hp2 HG00735.hp1 HG01070.hp2 HG01099.hp2 HG01516.hp1 HG03688.hp2 NA18973.hp2 NA19012.hp1 NA19065.hp1 NA19084.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0008 a0011	a0001c0001 a0001c0020 a0001c0026 others(7): Show a0001c0001 a0001c0020 a0001c0026 a0001c0120 a0002c0003 a0003c0013 a0005c0024 a0005c0066 a0008c0060 a0011c0025	a0001c0001t0001 a0001c0020t0001 a0001c0026t0001 others(8): Show a0001c0001t0001 a0001c0020t0001 a0001c0026t0001 a0001c0026t0014 a0001c0120t0001 a0002c0003t0002 a0003c0013t0002 a0005c0024t0002 a0005c0066t0001 a0008c0060t0002 a0011c0025t0001	a0001c0001t0001g0117 a0001c0020t0001g0186 a0001c0026t0001g0147 others(8): Show a0001c0001t0001g0117 a0001c0020t0001g0186 a0001c0026t0001g0147 a0001c0026t0014g0104 a0001c0120t0001g0012 a0002c0003t0002g0174 a0003c0013t0002g0041 a0005c0024t0002g0118 a0005c0066t0001g0024 a0008c0060t0002g0017 a0011c0025t0001g0093	11	57	0.1930	20	c.979 others(35): Show c.979-686_979-685insTCTCTCTCTCCCTCTCTCTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13413893	G G	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0047 a0001c0016t0001g0047	1	194	0.0052	20	c.539 others(39): Show c.539+38982_539+38983insTTCTTTCTTTCTTTCTTTCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13413895	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02615.hp2 HG02622.hp1 others(9): Show HG02083.hp2 HG02615.hp2 HG02622.hp1 HG03139.hp1 HG03453.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03688.hp1 NA18964.hp1 NA18977.hp1 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0010 a0020 a0030 a0041	a0001c0005 a0001c0031 a0001c0034 others(9): Show a0001c0005 a0001c0031 a0001c0034 a0001c0106 a0002c0002 a0003c0015 a0003c0108 a0010c0083 a0010c0128 a0020c0021 a0030c0044 a0041c0063	a0001c0005t0021 a0001c0031t0003 a0001c0034t0001 others(9): Show a0001c0005t0021 a0001c0031t0003 a0001c0034t0001 a0001c0106t0001 a0002c0002t0002 a0003c0015t0002 a0003c0108t0005 a0010c0083t0004 a0010c0128t0001 a0020c0021t0001 a0030c0044t0001 a0041c0063t0002	a0001c0005t0021g0021 a0001c0031t0003g0123 a0001c0034t0001g0052 others(9): Show a0001c0005t0021g0021 a0001c0031t0003g0123 a0001c0034t0001g0052 a0001c0106t0001g0121 a0002c0002t0002g0129 a0003c0015t0002g0166 a0003c0108t0005g0210 a0010c0083t0004g0159 a0010c0128t0001g0139 a0020c0021t0001g0046 a0030c0044t0001g0194 a0041c0063t0002g0196	12	73	0.1644	20	c.539 others(39): Show c.539+38961_539+38980dupCTTTCTTTCTTTCTTTCTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13413895	A A	AAGAAAAA others(13): Show AAGAAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0017 a0017	a0017c0078 a0017c0078	a0017c0078t0008 a0017c0078t0008	a0017c0078t0008g0149 a0017c0078t0008g0149	1	62	0.0161	20	c.539 others(39): Show c.539+38980_539+38981insCTTTCTTTCTTTCTTTTTCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13415743	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01192.hp1 HG01257.hp2 others(2): Show HG00609.hp1 HG01192.hp1 HG01257.hp2 NA18980.hp2 NA20129.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0004 a0001c0122 a0002c0002 others(2): Show a0001c0004 a0001c0122 a0002c0002 a0002c0019 a0008c0011	a0001c0004t0001 a0001c0122t0001 a0002c0002t0001 others(2): Show a0001c0004t0001 a0001c0122t0001 a0002c0002t0001 a0002c0019t0002 a0008c0011t0002	a0001c0004t0001g0158 a0001c0122t0001g0176 a0002c0002t0001g0160 others(2): Show a0001c0004t0001g0158 a0001c0122t0001g0176 a0002c0002t0001g0160 a0002c0019t0002g0009 a0008c0011t0002g0070	5	34	0.1471	20	c.539 others(39): Show c.539+37113_539+37132dupTTTTTTTTTTTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13432103	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0204 a0001c0005t0001g0204	1	127	0.0079	20	c.539 others(39): Show c.539+20753_539+20772dupTTTTTTTTTTTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13433460	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02683.hp2 NA18939.hp1 others(8): Show HG02630.hp1 HG02683.hp2 NA18939.hp1 NA18946.hp2 NA18955.hp2 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18979.hp1 NA19000.hp2 NA19012.hp2	a0001 a0002 a0006 others(6): Show a0001 a0002 a0006 a0007 a0009 a0022 a0038 a0039 a0043	a0001c0034 a0002c0002 a0002c0003 others(8): Show a0001c0034 a0002c0002 a0002c0003 a0002c0124 a0006c0075 a0007c0008 a0009c0076 a0022c0109 a0038c0062 a0039c0057 a0043c0061	a0001c0034t0001 a0002c0002t0002 a0002c0003t0002 others(8): Show a0001c0034t0001 a0002c0002t0002 a0002c0003t0002 a0002c0124t0002 a0006c0075t0002 a0007c0008t0002 a0009c0076t0002 a0022c0109t0001 a0038c0062t0002 a0039c0057t0009 a0043c0061t0002	a0001c0034t0001g0079 a0002c0002t0002g0040 a0002c0003t0002g0131 others(8): Show a0001c0034t0001g0079 a0002c0002t0002g0040 a0002c0003t0002g0131 a0002c0124t0002g0132 a0006c0075t0002g0185 a0007c0008t0002g0027 a0009c0076t0002g0109 a0022c0109t0001g0198 a0038c0062t0002g0124 a0039c0057t0009g0002 a0043c0061t0002g0106	11	26	0.4231	20	c.539 others(39): Show c.539+19396_539+19415dupTTTTTTTTTTTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar

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