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
CARD19_chr9_93091217_93118283	93106414	T T	TAAAAAAA others(1): Show TAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp2 HG02258.hp2 others(6): Show HG01109.hp2 HG01891.hp2 HG02258.hp2 HG02451.hp2 HG02647.hp2 HG02717.hp1 HG02886.hp1 HG06807.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0002 a0001c0001t0002 a0001c0004t0002	a0001c0001t0002g0015 a0001c0001t0002g0099 a0001c0004t0002g0039 others(2): Show a0001c0001t0002g0015 a0001c0001t0002g0099 a0001c0004t0002g0039 a0001c0004t0002g0148 a0001c0004t0002g0149	9	60	0.1500	8	c.8-1 others(21): Show c.8-1251_8-1244dupAAAAAAAA	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CARD19_chr9_93091217_93118283	93106420	A A	AAAAAAAA others(1): Show AAAAAAAAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02300.hp2 HG03209.hp2 others(10): Show HG01255.hp2 HG02300.hp2 HG03209.hp2 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp2 HG03704.hp1 HG03834.hp1 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0012 a0002c0003t0001g0038 a0002c0003t0001g0143 others(4): Show a0002c0003t0001g0012 a0002c0003t0001g0038 a0002c0003t0001g0143 a0002c0003t0001g0144 a0002c0003t0001g0145 a0002c0003t0001g0146 a0002c0003t0001g0147	13	351	0.0370	8	c.8-1 others(21): Show c.8-1247_8-1246insTAAAAAAA	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CARD6_chr5_40836367_40860354	40850413	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00642.hp1 HG01168.hp2 others(19): Show HG00597.hp1 HG00642.hp1 HG01168.hp2 HG01255.hp2 HG02080.hp1 HG02280.hp2 HG02602.hp2 HG02723.hp1 HG02809.hp1 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03225.hp2 HG03486.hp2 NA18906.hp1 NA18977.hp2 NA19043.hp1 NA19043.hp2 NA19075.hp1 NA19080.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0003 a0006c0007 a0001c0001 a0002c0003 a0006c0007	a0001c0001t0001 a0001c0001t0003 a0002c0003t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0003t0004 a0006c0007t0003	a0001c0001t0001g0025 a0001c0001t0001g0047 a0001c0001t0001g0110 others(6): Show a0001c0001t0001g0025 a0001c0001t0001g0047 a0001c0001t0001g0110 a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0074 a0001c0001t0003g0107 a0002c0003t0004g0019 a0006c0007t0003g0024	22	62	0.3548	8	c.842 others(25): Show c.842-1748_842-1741dupAAAAAAAA	CARD6	ENSG00000132357.14	transcript	ENST00000254691.10	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CARD8_chr19_48203086_48260912	48207734	G G	GGTTTTGT others(1): Show GGTTTTGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01891.hp1 HG02622.hp2 others(3): Show HG01433.hp1 HG01891.hp1 HG02622.hp2 HG02647.hp1 HG03486.hp1 HG03540.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0008 a0004c0007t0053 a0004c0007t0008 a0004c0007t0053	a0004c0007t0008g0073 a0004c0007t0008g0074 a0004c0007t0008g0126 others(3): Show a0004c0007t0008g0073 a0004c0007t0008g0074 a0004c0007t0008g0126 a0004c0007t0008g0127 a0004c0007t0008g0169 a0004c0007t0053g0291	6	187	0.0321	8	c.39 others(19): Show c.3975_*3976insAACAAAAC	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding		351		chr19	TogoVar
CARD8_chr19_48203086_48260912	48207744	T T	TTGTTTTT others(1): Show TTGTTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01261.hp1 HG02723.hp2 others(6): Show HG00733.hp1 HG01261.hp1 HG02723.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03579.hp2 NA19030.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0010 a0004c0007 a0004c0011 others(1): Show a0001c0010 a0004c0007 a0004c0011 a0008c0015	a0001c0010t0011 a0004c0007t0008 a0004c0011t0008 others(1): Show a0001c0010t0011 a0004c0007t0008 a0004c0011t0008 a0008c0015t0030	a0001c0010t0011g0283 a0004c0007t0008g0150 a0004c0007t0008g0151 others(5): Show a0001c0010t0011g0283 a0004c0007t0008g0150 a0004c0007t0008g0151 a0004c0011t0008g0018 a0004c0011t0008g0128 a0004c0011t0008g0146 a0008c0015t0030g0301 a0008c0015t0030g0302	9	352	0.0256	8	c.39 others(19): Show c.3965_*3966insCAAAAACA	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding		341		chr19	TogoVar
CARD8_chr19_48203086_48260912	48221006	G G	GAGAGAAA others(1): Show GAGAGAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG01071.hp2 others(25): Show HG00642.hp1 HG00738.hp2 HG01071.hp2 HG01109.hp2 HG01168.hp1 HG01243.hp1 HG01255.hp1 HG01361.hp2 HG01928.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02083.hp1 HG02135.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp1 HG02735.hp2 HG02738.hp1 HG03654.hp1 HG03831.hp2 HG03927.hp2 NA18941.hp1 NA19002.hp2 NA19010.hp2 NA19081.hp2 NA19090.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0012 a0003c0006 others(1): Show a0001c0003 a0002c0012 a0003c0006 a0003c0019	a0001c0003t0005 a0001c0003t0007 a0001c0003t0014 others(9): Show a0001c0003t0005 a0001c0003t0007 a0001c0003t0014 a0001c0003t0028 a0001c0003t0035 a0001c0003t0042 a0001c0003t0049 a0002c0012t0003 a0002c0012t0005 a0003c0006t0003 a0003c0006t0016 a0003c0019t0007	a0001c0003t0005g0005 a0001c0003t0005g0009 a0001c0003t0005g0010 others(21): Show a0001c0003t0005g0005 a0001c0003t0005g0009 a0001c0003t0005g0010 a0001c0003t0005g0063 a0001c0003t0005g0071 a0001c0003t0005g0125 a0001c0003t0005g0160 a0001c0003t0005g0177 a0001c0003t0005g0183 a0001c0003t0007g0062 a0001c0003t0007g0068 a0001c0003t0007g0137 a0001c0003t0014g0059 a0001c0003t0014g0060 a0001c0003t0028g0061 a0001c0003t0035g0099 a0001c0003t0042g0069 a0001c0003t0049g0254 a0002c0012t0003g0111 a0002c0012t0003g0113 a0002c0012t0005g0220 a0003c0006t0003g0051 a0003c0006t0016g0279 a0003c0019t0007g0136	28	325	0.0862	8	c.116 others(25): Show c.1161+723_1161+724insTTTTCTCT	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	11/13			chr19	TogoVar
CARD8_chr19_48203086_48260912	48252808	T T	TATATACA others(1): Show TATATACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00673.hp1 others(34): Show HG00408.hp2 HG00423.hp1 HG00673.hp1 HG01346.hp2 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG02129.hp1 HG02135.hp1 HG02895.hp2 HG02965.hp1 HG03239.hp1 HG03490.hp2 HG03492.hp2 HG03710.hp1 HG03834.hp2 NA18747.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18947.hp2 NA18956.hp2 NA18964.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18983.hp1 NA18986.hp1 NA18990.hp2 NA18991.hp1 NA18997.hp1 NA18998.hp1 NA19002.hp1 NA19005.hp2 NA19006.hp2 NA19091.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0001 a0003c0006	a0001c0002t0011 a0001c0002t0048 a0001c0003t0022 others(10): Show a0001c0002t0011 a0001c0002t0048 a0001c0003t0022 a0001c0003t0029 a0001c0004t0029 a0001c0005t0045 a0002c0001t0004 a0002c0001t0010 a0002c0001t0011 a0002c0001t0017 a0002c0001t0051 a0002c0001t0052 a0003c0006t0016	a0001c0002t0011g0249 a0001c0002t0011g0255 a0001c0002t0011g0256 others(25): Show a0001c0002t0011g0249 a0001c0002t0011g0255 a0001c0002t0011g0256 a0001c0002t0048g0250 a0001c0003t0022g0028 a0001c0003t0022g0282 a0001c0003t0029g0253 a0001c0004t0029g0276 a0001c0005t0045g0269 a0002c0001t0004g0001 a0002c0001t0004g0029 a0002c0001t0004g0031 a0002c0001t0004g0245 a0002c0001t0004g0257 a0002c0001t0004g0261 a0002c0001t0004g0266 a0002c0001t0004g0268 a0002c0001t0004g0274 a0002c0001t0010g0030 a0002c0001t0010g0247 a0002c0001t0010g0267 a0002c0001t0010g0278 a0002c0001t0011g0244 a0002c0001t0017g0251 a0002c0001t0017g0263 a0002c0001t0051g0260 a0002c0001t0052g0262 a0003c0006t0016g0248	37	164	0.2256	8	c.-25 others(27): Show c.-251-2962_-251-2961insGTGTATAT	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	1/13			chr19	TogoVar
CARD8_chr19_48203086_48260912	48252808	T T	TATATATA others(1): Show TATATATAC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG02135.hp2 others(6): Show HG01168.hp2 HG01169.hp1 HG02135.hp2 HG02630.hp1 HG02630.hp2 HG02818.hp2 HG02976.hp1 HG03041.hp1 NA18965.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0005 others(2): Show a0001c0002 a0001c0003 a0001c0005 a0002c0001 a0003c0006	a0001c0002t0058 a0001c0003t0003 a0001c0005t0018 others(3): Show a0001c0002t0058 a0001c0003t0003 a0001c0005t0018 a0002c0001t0017 a0002c0001t0019 a0003c0006t0003	a0001c0002t0058g0289 a0001c0003t0003g0109 a0001c0005t0018g0294 others(5): Show a0001c0002t0058g0289 a0001c0003t0003g0109 a0001c0005t0018g0294 a0002c0001t0017g0264 a0002c0001t0019g0035 a0002c0001t0019g0292 a0002c0001t0019g0293 a0003c0006t0003g0051	9	136	0.0662	8	c.-25 others(27): Show c.-251-2962_-251-2961insGTATATAT	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	1/13			chr19	TogoVar
CARF_chr2_202907275_202993263	202916162	T T	TTTTATTT others(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02258.hp1 others(10): Show HG01109.hp2 HG01884.hp1 HG02258.hp1 HG02572.hp2 HG02717.hp1 HG02818.hp1 HG02896.hp2 HG03098.hp2 HG03130.hp1 HG03516.hp2 HG03540.hp1 HG06807.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0012 a0002c0002 a0002c0012	a0002c0002t0001 a0002c0002t0084 a0002c0012t0001 a0002c0002t0001 a0002c0002t0084 a0002c0012t0001	a0002c0002t0001g0307 a0002c0002t0001g0309 a0002c0002t0001g0310 others(10): Show a0002c0002t0001g0307 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0320 a0002c0002t0001g0321 a0002c0002t0084g0319 a0002c0012t0001g0308	13	71	0.1831	8	c.-32 others(27): Show c.-329-1687_-329-1680dupATTTATTT	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CARF_chr2_202907275_202993263	202943587	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00733.hp1 others(35): Show HG00408.hp1 HG00408.hp2 HG00733.hp1 HG01106.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01981.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02273.hp2 HG02293.hp2 HG02451.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03688.hp2 HG03942.hp2 HG04115.hp2 HG04204.hp1 HG04204.hp2 NA18954.hp2 NA18962.hp2 NA18965.hp2 NA18993.hp1 NA19009.hp2 NA19030.hp1 NA19062.hp2 NA19070.hp1 NA19078.hp1 NA19091.hp2 NA20752.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0005 a0005c0006 a0001c0001 a0001c0005 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0027 a0001c0001t0028 a0001c0001t0049 a0001c0001t0052 a0001c0001t0055 a0001c0001t0057 a0001c0001t0060 a0001c0001t0065 a0001c0001t0074 a0001c0001t0093 a0001c0005t0030 a0001c0005t0044 a0005c0006t0024	a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0107 others(35): Show a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0130 a0001c0001t0001g0189 a0001c0001t0003g0196 a0001c0001t0004g0040 a0001c0001t0004g0172 a0001c0001t0004g0245 a0001c0001t0004g0263 a0001c0001t0005g0176 a0001c0001t0005g0197 a0001c0001t0005g0206 a0001c0001t0007g0122 a0001c0001t0007g0154 a0001c0001t0007g0238 a0001c0001t0007g0247 a0001c0001t0008g0114 a0001c0001t0008g0198 a0001c0001t0010g0160 a0001c0001t0010g0254 a0001c0001t0016g0023 a0001c0001t0016g0024 a0001c0001t0017g0272 a0001c0001t0019g0246 a0001c0001t0027g0168 a0001c0001t0028g0120 a0001c0001t0049g0035 a0001c0001t0052g0261 a0001c0001t0055g0042 a0001c0001t0057g0167 a0001c0001t0060g0039 a0001c0001t0065g0044 a0001c0001t0074g0148 a0001c0001t0093g0255 a0001c0005t0030g0323 a0001c0005t0044g0290 a0005c0006t0024g0060	38	100	0.3800	8	c.306 others(23): Show c.306+656_306+663dupCACACACA	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CARF_chr2_202907275_202993263	202960779	T T	TTCCCTCC others(1): Show TTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00735.hp1 HG00738.hp2 others(11): Show HG00438.hp2 HG00735.hp1 HG00738.hp2 HG01099.hp2 HG01167.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 NA18952.hp1 NA18966.hp2 NA19085.hp2 NA20752.hp2	a0003 a0003	a0003c0003 a0003c0007 a0003c0009 others(1): Show a0003c0003 a0003c0007 a0003c0009 a0003c0013	a0003c0003t0014 a0003c0003t0036 a0003c0003t0037 others(7): Show a0003c0003t0014 a0003c0003t0036 a0003c0003t0037 a0003c0003t0094 a0003c0003t0095 a0003c0007t0037 a0003c0007t0097 a0003c0009t0014 a0003c0009t0096 a0003c0013t0098	a0003c0003t0014g0002 a0003c0003t0014g0015 a0003c0003t0014g0016 others(10): Show a0003c0003t0014g0002 a0003c0003t0014g0015 a0003c0003t0014g0016 a0003c0003t0014g0019 a0003c0003t0036g0001 a0003c0003t0037g0013 a0003c0003t0094g0020 a0003c0003t0095g0002 a0003c0007t0037g0014 a0003c0007t0097g0018 a0003c0009t0014g0017 a0003c0009t0096g0021 a0003c0013t0098g0012	14	332	0.0422	8	c.643 others(23): Show c.643-450_643-443dupCTCCCTCC	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CARF_chr2_202907275_202993263	202980616	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp2 HG00673.hp1 others(38): Show HG00408.hp2 HG00621.hp2 HG00673.hp1 HG00735.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01952.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02723.hp2 HG02886.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03453.hp1 HG03710.hp1 HG03831.hp2 HG03942.hp1 HG06807.hp1 NA18747.hp2 NA18945.hp2 NA18946.hp2 NA18954.hp2 NA18959.hp2 NA18977.hp1 NA18982.hp2 NA18993.hp1 NA18994.hp2 NA19001.hp1 NA19081.hp1 NA19088.hp1 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0040 a0001c0001t0041 a0001c0001t0049 a0001c0001t0051 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0069 a0001c0001t0074	a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0002g0067 others(38): Show a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0075 a0001c0001t0002g0086 a0001c0001t0002g0098 a0001c0001t0003g0117 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0004g0165 a0001c0001t0004g0270 a0001c0001t0004g0274 a0001c0001t0005g0110 a0001c0001t0007g0154 a0001c0001t0007g0238 a0001c0001t0007g0244 a0001c0001t0007g0247 a0001c0001t0007g0284 a0001c0001t0009g0073 a0001c0001t0010g0038 a0001c0001t0010g0162 a0001c0001t0010g0163 a0001c0001t0010g0254 a0001c0001t0011g0141 a0001c0001t0015g0293 a0001c0001t0018g0158 a0001c0001t0020g0054 a0001c0001t0025g0243 a0001c0001t0026g0150 a0001c0001t0028g0120 a0001c0001t0040g0058 a0001c0001t0041g0081 a0001c0001t0049g0035 a0001c0001t0051g0262 a0001c0001t0061g0045 a0001c0001t0062g0156 a0001c0001t0063g0155 a0001c0001t0064g0105 a0001c0001t0069g0022 a0001c0001t0074g0148	41	54	0.7593	8	c.155 others(25): Show c.1559-900_1559-893dupTATATATA	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CARHSP1_chr16_8847947_8874006	8851977	C C	CTTTTTTT others(1): Show CTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00609.hp2 HG01516.hp2 others(13): Show HG00099.hp1 HG00609.hp2 HG01516.hp2 HG02486.hp1 HG03017.hp2 HG03490.hp2 HG04199.hp1 NA18747.hp1 NA18952.hp1 NA18967.hp2 NA18969.hp1 NA18977.hp2 NA18979.hp2 NA19009.hp1 NA19082.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0082 others(12): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0082 a0001c0001t0001g0105 a0001c0001t0001g0114 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0318 a0001c0001t0001g0336 a0001c0002t0001g0199 a0001c0002t0001g0332	16	91	0.1758	8	c.31 others(19): Show c.3179_*3186dupAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding		969		chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857263	G G	GTTTTTTG others(1): Show GTTTTTTGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp1 HG01192.hp1 others(6): Show HG00639.hp2 HG01069.hp1 HG01192.hp1 HG02622.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG03471.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0197 a0001c0001t0002g0410 a0001c0002t0002g0032 others(6): Show a0001c0001t0002g0197 a0001c0001t0002g0410 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0035 a0001c0002t0002g0135 a0001c0002t0002g0198 a0001c0002t0002g0343 a0001c0002t0002g0408	9	120	0.0750	8	c.281 others(25): Show c.281+1086_281+1087insACAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857269	T T	TGTTTTTT others(1): Show TGTTTTTTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02647.hp1 HG02896.hp2 others(1): Show HG00323.hp1 HG02647.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0002 a0001c0002t0002 a0001c0004t0002	a0001c0002t0002g0104 a0001c0004t0002g0080 a0001c0004t0002g0116 others(1): Show a0001c0002t0002g0104 a0001c0004t0002g0080 a0001c0004t0002g0116 a0001c0004t0002g0117	4	468	0.0085	8	c.281 others(25): Show c.281+1080_281+1081insCAAAAAAC	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8861989	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG01123.hp2 others(23): Show HG00408.hp2 HG00597.hp2 HG01123.hp2 HG01168.hp2 HG01516.hp2 HG01517.hp2 HG02074.hp2 HG02148.hp2 HG02572.hp2 HG02683.hp2 HG02698.hp2 HG03453.hp2 HG04115.hp1 NA18522.hp2 NA18747.hp1 NA18940.hp1 NA18977.hp2 NA18995.hp2 NA18999.hp1 NA19003.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19077.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 a0001c0002t0001 a0001c0002t0004 a0001c0003t0015 a0001c0003t0016	a0001c0001t0001g0012 a0001c0001t0001g0087 a0001c0001t0001g0113 others(22): Show a0001c0001t0001g0012 a0001c0001t0001g0087 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0232 a0001c0001t0001g0276 a0001c0001t0001g0285 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0310 a0001c0001t0001g0384 a0001c0001t0001g0420 a0001c0001t0002g0287 a0001c0001t0002g0290 a0001c0001t0021g0295 a0001c0002t0001g0201 a0001c0002t0004g0141 a0001c0003t0015g0411 a0001c0003t0016g0075	26	125	0.2080	8	c.-7- others(23): Show c.-7-2662_-7-2655dupAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	1/3			chr16	TogoVar
CARMIL1_chr6_25274374_25625530	25281127	T T	TGTGCGCG others(1): Show TGTGCGCGC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01243.hp2 HG02083.hp2 others(11): Show HG00323.hp1 HG01243.hp2 HG02083.hp2 HG02486.hp1 HG02738.hp1 HG02738.hp2 HG02970.hp2 NA18956.hp2 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA19003.hp1 NA19003.hp2 NA19011.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0015 a0001c0029 a0001c0032 a0003c0010 a0003c0017 a0008c0035	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0002t0001 a0001c0003t0008 a0001c0006t0002 a0001c0008t0001 a0001c0015t0004 a0001c0029t0006 a0001c0032t0011 a0003c0010t0003 a0003c0017t0006 a0008c0035t0004	a0001c0001t0001g0016 a0001c0001t0003g0029 a0001c0001t0008g0014 others(11): Show a0001c0001t0001g0016 a0001c0001t0003g0029 a0001c0001t0008g0014 a0001c0002t0001g0024 a0001c0003t0008g0022 a0001c0006t0002g0012 a0001c0006t0002g0027 a0001c0008t0001g0011 a0001c0015t0004g0008 a0001c0029t0006g0031 a0001c0032t0011g0006 a0003c0010t0003g0019 a0003c0017t0006g0017 a0008c0035t0004g0028	14	171	0.0819	8	c.40+ others(23): Show c.40+1293_40+1294insTGCGCGCG	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25281136	G G	GCACACAC others(1): Show GCACACACA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03540.hp2 HG03225.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0031 a0001c0002 a0001c0031	a0001c0002t0001 a0001c0031t0004 a0001c0002t0001 a0001c0031t0004	a0001c0002t0001g0055 a0001c0031t0004g0053 a0001c0002t0001g0055 a0001c0031t0004g0053	2	48	0.0417	8	c.40+ others(23): Show c.40+1327_40+1334dupACACACAC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25293265	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01175.hp1 HG01433.hp1 others(6): Show HG01106.hp2 HG01175.hp1 HG01433.hp1 HG01433.hp2 HG01934.hp1 HG02055.hp2 HG02257.hp1 HG02896.hp2 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0002c0007	a0001c0001t0001 a0001c0001t0015 a0001c0002t0003 others(6): Show a0001c0001t0001 a0001c0001t0015 a0001c0002t0003 a0001c0002t0008 a0001c0004t0004 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0002c0007t0006	a0001c0001t0001g0105 a0001c0001t0015g0182 a0001c0002t0003g0108 others(6): Show a0001c0001t0001g0105 a0001c0001t0015g0182 a0001c0002t0003g0108 a0001c0002t0008g0107 a0001c0004t0004g0130 a0001c0006t0001g0020 a0001c0006t0002g0021 a0001c0006t0003g0094 a0002c0007t0006g0106	9	46	0.1957	8	c.138 others(25): Show c.138+8389_138+8396dupGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25296893	T T	TTATCTAT others(1): Show TTATCTATC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp2 HG03834.hp1 HG03834.hp2	a0001 a0003 a0001 a0003	a0001c0015 a0003c0010 a0001c0015 a0003c0010	a0001c0015t0002 a0003c0010t0005 a0001c0015t0002 a0003c0010t0005	a0001c0015t0002g0061 a0003c0010t0005g0137 a0001c0015t0002g0061 a0003c0010t0005g0137	2	182	0.0110	8	c.138 others(27): Show c.138+12018_138+12025dupATCTATCT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25296934	T T	TATCTTTA others(1): Show TATCTTTAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01175.hp2 HG02135.hp1 others(6): Show HG00621.hp2 HG01175.hp2 HG02135.hp1 HG02895.hp2 HG03139.hp1 HG03195.hp1 NA18956.hp1 NA19011.hp1 NA19072.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0002 a0001c0008 others(4): Show a0001c0001 a0001c0002 a0001c0008 a0001c0012 a0002c0005 a0005c0019 a0006c0016	a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 others(6): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0002t0007 a0001c0008t0010 a0001c0012t0005 a0002c0005t0003 a0005c0019t0005 a0006c0016t0001	a0001c0001t0003g0029 a0001c0001t0005g0138 a0001c0001t0010g0155 others(6): Show a0001c0001t0003g0029 a0001c0001t0005g0138 a0001c0001t0010g0155 a0001c0002t0007g0145 a0001c0008t0010g0147 a0001c0012t0005g0151 a0002c0005t0003g0035 a0005c0019t0005g0153 a0006c0016t0001g0045	9	166	0.0542	8	c.138 others(27): Show c.138+12025_138+12026insATCTTTAA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36			chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25296935	T T	TTAACTAA others(1): Show TTAACTAAC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03942.hp2 HG03669.hp2 HG03942.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0005 a0001c0004 a0002c0005	a0001c0004t0014 a0002c0005t0007 a0001c0004t0014 a0002c0005t0007	a0001c0004t0014g0156 a0002c0005t0007g0157 a0001c0004t0014g0156 a0002c0005t0007g0157	2	13	0.1538	8	c.138 others(27): Show c.138+12050_138+12057dupCTAACTAA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25340777	G G	GTTTTTTT others(1): Show GTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02055.hp2 HG02717.hp2 others(2): Show HG01934.hp1 HG02055.hp2 HG02717.hp2 HG03195.hp1 NA19240.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0004 a0001c0009 others(2): Show a0001c0001 a0001c0004 a0001c0009 a0002c0007 a0006c0016	a0001c0001t0001 a0001c0004t0009 a0001c0009t0011 others(2): Show a0001c0001t0001 a0001c0004t0009 a0001c0009t0011 a0002c0007t0006 a0006c0016t0001	a0001c0001t0001g0105 a0001c0004t0009g0184 a0001c0009t0011g0046 others(2): Show a0001c0001t0001g0105 a0001c0004t0009g0184 a0001c0009t0011g0046 a0002c0007t0006g0106 a0006c0016t0001g0045	5	32	0.1563	8	c.138 others(27): Show c.138+55888_138+55895dupTTTTTTTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25406447	G G	GAAAGAAC others(1): Show GAAAGAACA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01081.hp1 HG01106.hp1 others(5): Show HG00642.hp1 HG01081.hp1 HG01106.hp1 HG02257.hp2 HG02486.hp2 HG02717.hp1 NA18522.hp1 NA21309.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0002 a0001c0004 a0001c0009 others(3): Show a0001c0002 a0001c0004 a0001c0009 a0002c0007 a0005c0019 a0006c0016	a0001c0002t0008 a0001c0004t0006 a0001c0009t0002 others(4): Show a0001c0002t0008 a0001c0004t0006 a0001c0009t0002 a0002c0007t0003 a0002c0007t0006 a0005c0019t0001 a0006c0016t0005	a0001c0002t0008g0059 a0001c0004t0006g0060 a0001c0009t0002g0058 others(5): Show a0001c0002t0008g0059 a0001c0004t0006g0060 a0001c0009t0002g0058 a0002c0007t0003g0057 a0002c0007t0006g0036 a0002c0007t0006g0037 a0005c0019t0001g0038 a0006c0016t0005g0165	8	184	0.0435	8	c.139 others(27): Show c.139-13667_139-13666insAAAGAACA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36			chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441320	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03239.hp1 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0006 a0001c0012t0006	a0001c0012t0006g0114 a0001c0012t0006g0115 a0001c0012t0006g0116 a0001c0012t0006g0114 a0001c0012t0006g0115 a0001c0012t0006g0116	3	167	0.0180	8	c.371 others(25): Show c.371+5727_371+5734dupATATATAT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441333	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG06807.hp2 NA19240.hp1 HG02572.hp2 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0023 a0001c0004t0009 a0001c0001t0001 a0001c0003t0023 a0001c0004t0009	a0001c0001t0001g0042 a0001c0003t0023g0161 a0001c0004t0009g0184 a0001c0001t0001g0042 a0001c0003t0023g0161 a0001c0004t0009g0184	3	164	0.0183	8	c.371 others(25): Show c.371+5730_371+5731insGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATATAT others(1): Show ATATATATG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03195.hp2 HG03669.hp2 others(2): Show HG01934.hp1 HG03195.hp2 HG03669.hp2 HG03710.hp1 NA18970.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0003t0007 a0002c0005t0003 others(1): Show a0001c0001t0001 a0001c0003t0007 a0002c0005t0003 a0002c0005t0007	a0001c0001t0001g0087 a0001c0001t0001g0105 a0001c0003t0007g0142 others(2): Show a0001c0001t0001g0087 a0001c0001t0001g0105 a0001c0003t0007g0142 a0002c0005t0003g0080 a0002c0005t0007g0157	5	28	0.1786	8	c.371 others(25): Show c.371+5734_371+5735insATATATGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATATGT others(1): Show ATATATGTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01081.hp1 HG00642.hp1 HG01081.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0006 a0002c0007t0006	a0002c0007t0006g0036 a0002c0007t0006g0037 a0002c0007t0006g0036 a0002c0007t0006g0037	2	25	0.0800	8	c.371 others(25): Show c.371+5734_371+5735insATATGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATGTGT others(1): Show ATATGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01433.hp1 HG00544.hp1 HG01433.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0023 a0001c0004 a0003c0023	a0001c0004t0004 a0003c0023t0002 a0001c0004t0004 a0003c0023t0002	a0001c0004t0004g0130 a0003c0023t0002g0077 a0001c0004t0004g0130 a0003c0023t0002g0077	2	25	0.0800	8	c.371 others(25): Show c.371+5734_371+5735insATGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25450984	C C	CTCTCCCC others(1): Show CTCTCCCCT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01884.hp1 HG02055.hp2 others(15): Show HG01361.hp2 HG01884.hp1 HG02055.hp2 HG02257.hp2 HG02486.hp2 HG02717.hp1 HG02895.hp1 HG02922.hp1 HG02970.hp1 HG03195.hp1 HG03225.hp1 HG03516.hp1 NA18522.hp1 NA18945.hp1 NA18956.hp2 NA19003.hp2 NA19007.hp2 NA21309.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0012	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0002c0007 a0002c0013 a0005c0030 a0006c0016 a0012c0036	a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 others(12): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 a0001c0002t0001 a0001c0002t0008 a0001c0004t0006 a0001c0006t0002 a0001c0008t0001 a0002c0007t0003 a0002c0007t0006 a0002c0013t0010 a0005c0030t0005 a0006c0016t0001 a0006c0016t0005 a0012c0036t0001	a0001c0001t0001g0050 a0001c0001t0008g0133 a0001c0001t0012g0179 others(15): Show a0001c0001t0001g0050 a0001c0001t0008g0133 a0001c0001t0012g0179 a0001c0002t0001g0055 a0001c0002t0008g0059 a0001c0004t0006g0060 a0001c0006t0002g0012 a0001c0006t0002g0027 a0001c0006t0002g0086 a0001c0008t0001g0041 a0002c0007t0003g0057 a0002c0007t0006g0106 a0002c0013t0010g0051 a0005c0030t0005g0159 a0006c0016t0001g0045 a0006c0016t0005g0165 a0006c0016t0005g0168 a0012c0036t0001g0001	18	55	0.3273	8	c.614 others(23): Show c.614+273_614+274insTCTCCCCT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36			chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459210	T T	TTTTCTTT others(1): Show TTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02738.hp2 NA18943.hp2 others(2): Show HG00621.hp1 HG02738.hp2 NA18943.hp2 NA18948.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0003t0002 a0001c0003t0008 others(1): Show a0001c0001t0001 a0001c0003t0002 a0001c0003t0008 a0001c0006t0002	a0001c0001t0001g0097 a0001c0003t0002g0067 a0001c0003t0002g0092 others(2): Show a0001c0001t0001g0097 a0001c0003t0002g0067 a0001c0003t0002g0092 a0001c0003t0008g0022 a0001c0006t0002g0121	5	128	0.0391	8	c.615 others(25): Show c.615-6611_615-6604dupCTTTCTTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25495538	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00673.hp2 HG01175.hp1 others(2): Show HG00140.hp1 HG00673.hp2 HG01175.hp1 HG02572.hp1 NA18979.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0010 a0001c0001 a0001c0002 a0003c0010	a0001c0001t0003 a0001c0002t0003 a0001c0002t0005 others(2): Show a0001c0001t0003 a0001c0002t0003 a0001c0002t0005 a0001c0002t0012 a0003c0010t0003	a0001c0001t0003g0118 a0001c0002t0003g0108 a0001c0002t0005g0136 others(2): Show a0001c0001t0003g0118 a0001c0002t0003g0108 a0001c0002t0005g0136 a0001c0002t0012g0185 a0003c0010t0003g0019	5	29	0.1724	8	c.132 others(25): Show c.1325+354_1325+361dupGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	16/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25526150	C C	CAAATAAA others(1): Show CAAATAAAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02818.hp2 HG03195.hp2 others(2): Show HG01167.hp2 HG02818.hp2 HG03195.hp2 NA18956.hp1 NA19011.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0020 a0001c0001 a0009c0020	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0009c0020t0015	a0001c0001t0001g0079 a0001c0001t0001g0087 a0001c0001t0003g0029 others(2): Show a0001c0001t0001g0079 a0001c0001t0001g0087 a0001c0001t0003g0029 a0001c0001t0005g0138 a0009c0020t0015g0160	5	45	0.1111	8	c.196 others(27): Show c.1969-2606_1969-2599dupATAAATAA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	23/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25544606	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02145.hp1 HG02818.hp2 others(5): Show HG01175.hp2 HG02145.hp1 HG02818.hp2 HG03130.hp2 HG03209.hp1 HG03516.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0001c0004 a0001c0012 others(4): Show a0001c0001 a0001c0004 a0001c0012 a0002c0007 a0002c0034 a0003c0024 a0009c0020	a0001c0001t0012 a0001c0004t0012 a0001c0004t0018 others(5): Show a0001c0001t0012 a0001c0004t0012 a0001c0004t0018 a0001c0012t0005 a0002c0007t0020 a0002c0034t0011 a0003c0024t0008 a0009c0020t0015	a0001c0001t0012g0179 a0001c0004t0012g0175 a0001c0004t0018g0122 others(5): Show a0001c0001t0012g0179 a0001c0004t0012g0175 a0001c0004t0018g0122 a0001c0012t0005g0151 a0002c0007t0020g0181 a0002c0034t0011g0112 a0003c0024t0008g0004 a0009c0020t0015g0160	8	58	0.1379	8	c.232 others(27): Show c.2328+4561_2328+4568dupACACACAC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	26/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25555382	T T	TATTCATT others(1): Show TATTCATTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA19043.hp1 HG00735.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0022 a0001c0002t0003 a0001c0002t0022	a0001c0002t0003g0005 a0001c0002t0022g0164 a0001c0002t0003g0005 a0001c0002t0022g0164	2	47	0.0426	8	c.259 others(27): Show c.2593-1289_2593-1282dupTTCATTCA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARNMT1_chr9_74975790_75033293	75005827	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02165.hp2 HG02258.hp2 others(2): Show HG01106.hp2 HG02165.hp2 HG02258.hp2 HG03927.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0275 a0001c0001t0002g0282 others(2): Show a0001c0001t0002g0160 a0001c0001t0002g0275 a0001c0001t0002g0282 a0001c0001t0002g0285 a0001c0001t0002g0294	5	41	0.1220	8	c.591 others(25): Show c.591-5965_591-5958dupGTGTGTGT	CARNMT1	ENSG00000156017.13	transcript	ENST00000376834.8	protein_coding	3/7			chr9	TogoVar
CARNS1_chr11_67410678_67430604	67424861	C C	CCACACAC others(1): Show CCACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01943.hp2 HG02809.hp1 NA19030.hp2 others(1): Show HG01943.hp2 HG02809.hp1 NA19030.hp2 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0024 a0001c0003t0043 a0002c0002t0029 a0001c0003t0024 a0001c0003t0043 a0002c0002t0029	a0001c0003t0024g0048 a0001c0003t0024g0079 a0001c0003t0043g0041 others(1): Show a0001c0003t0024g0048 a0001c0003t0024g0079 a0001c0003t0043g0041 a0002c0002t0029g0004	4	146	0.0274	8	c.28 others(17): Show c.284_*291dupACACACAC	CARNS1	ENSG00000172508.11	transcript	ENST00000687366.1	protein_coding	10/10	292	INFO_REALIGN_3_PRIME	chr11	TogoVar
CARS1_chr11_2995929_3062423	3031996	T T	TTCCTTCC others(1): Show TTCCTTCCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03209.hp2 HG03516.hp1 HG02622.hp1 HG03209.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0196 a0001c0001t0001g0017 a0001c0001t0001g0196	3	270	0.0111	8	c.802 others(25): Show c.802-2554_802-2553insGGGAAGGA	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	7/22			chr11	TogoVar
CARS1_chr11_2995929_3062423	3032060	C C	CTCCCTCC others(1): Show CTCCCTCCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG01109.hp2 HG00639.hp1 HG00735.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	3	271	0.0111	8	c.802 others(25): Show c.802-2618_802-2617insAGGAGGGA	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	7/22			chr11	TogoVar
CARS2_chr13_110636417_110711116	110657199	A A	AAATTTTA others(1): Show AAATTTTAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00609.hp1 others(140): Show HG00438.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG02015.hp1 HG02071.hp2 HG02074.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03453.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18963.hp1 NA18967.hp1 NA18969.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA18997.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19064.hp1 NA19065.hp2 NA19070.hp1 NA19074.hp2 NA19078.hp1 NA19080.hp1 NA19085.hp1 NA19087.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0007 a0010 a0011 a0015	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0019 a0001c0020 a0002c0004 a0002c0008 a0003c0011 a0004c0012 a0006c0015 a0007c0014 a0010c0018 a0011c0017 a0015c0021	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(18): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0007t0001 a0001c0019t0001 a0001c0020t0002 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0008t0001 a0003c0011t0002 a0004c0012t0002 a0004c0012t0004 a0006c0015t0002 a0007c0014t0002 a0010c0018t0002 a0011c0017t0002 a0015c0021t0001	a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 others(131): Show a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0312 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0074 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0197 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0204 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0221 a0001c0002t0001g0230 a0001c0002t0001g0262 a0001c0002t0002g0019 a0001c0002t0002g0022 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0239 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0245 a0001c0002t0002g0251 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0258 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0003g0265 a0001c0002t0003g0266 a0001c0002t0003g0267 a0001c0003t0001g0237 a0001c0003t0002g0068 a0001c0003t0002g0301 a0001c0003t0002g0302 a0001c0003t0002g0306 a0001c0003t0002g0310 a0001c0003t0002g0311 a0001c0003t0002g0313 a0001c0003t0002g0316 a0001c0003t0002g0317 a0001c0007t0001g0189 a0001c0019t0001g0205 a0001c0020t0002g0300 a0002c0004t0001g0008 a0002c0004t0001g0029 a0002c0004t0001g0030 a0002c0004t0001g0031 a0002c0004t0001g0032 a0002c0004t0001g0033 a0002c0004t0001g0034 a0002c0004t0001g0037 a0002c0004t0001g0038 a0002c0004t0001g0039 a0002c0004t0001g0040 a0002c0004t0001g0041 a0002c0004t0001g0042 a0002c0004t0001g0043 a0002c0004t0001g0044 a0002c0004t0001g0046 a0002c0004t0001g0047 a0002c0004t0001g0048 a0002c0004t0001g0049 a0002c0004t0001g0050 a0002c0004t0001g0051 a0002c0004t0001g0052 a0002c0004t0001g0053 a0002c0004t0001g0054 a0002c0004t0001g0055 a0002c0004t0001g0056 a0002c0004t0001g0057 a0002c0004t0001g0058 a0002c0004t0001g0059 a0002c0004t0001g0218 a0002c0004t0001g0219 a0002c0004t0002g0045 a0002c0004t0002g0060 a0002c0004t0002g0238 a0002c0004t0003g0236 a0002c0004t0003g0299 a0002c0008t0001g0036 a0003c0011t0002g0240 a0003c0011t0002g0252 a0003c0011t0002g0253 a0004c0012t0002g0260 a0004c0012t0002g0261 a0004c0012t0004g0259 a0006c0015t0002g0066 a0006c0015t0002g0067 a0007c0014t0002g0249 a0007c0014t0002g0250 a0010c0018t0002g0263 a0011c0017t0002g0264 a0015c0021t0001g0203	143	370	0.3865	8	c.988 others(25): Show c.988-6107_988-6100dupATAAAATT	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	9/14			chr13	TogoVar
CARS2_chr13_110636417_110711116	110679650	C C	CGGAGGGA others(1): Show CGGAGGGAG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01361.hp2 others(17): Show HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01928.hp1 HG01975.hp1 HG02300.hp1 HG02630.hp1 HG02630.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG03041.hp1 HG03239.hp2 HG03492.hp2 HG04199.hp1 HG04228.hp1 NA18950.hp1 NA19057.hp2 NA19086.hp1 NA20129.hp1	a0001 a0005 a0017 a0001 a0005 a0017	a0001c0001 a0001c0003 a0005c0010 others(1): Show a0001c0001 a0001c0003 a0005c0010 a0017c0016	a0001c0001t0001 a0001c0003t0001 a0005c0010t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0005c0010t0001 a0017c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0070 a0001c0001t0001g0071 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0215 a0001c0001t0001g0254 a0001c0003t0001g0237 a0005c0010t0001g0097 a0005c0010t0001g0103 a0017c0016t0001g0026	20	152	0.1316	8	c.656 others(25): Show c.656-2555_656-2548dupCTCCCTCC	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14			chr13	TogoVar
CARTPT_chr5_71714275_71726045	71721292	T T	TGTGTGTG others(1): Show TGTGTGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02615.hp1 HG02818.hp1 others(5): Show HG02559.hp1 HG02615.hp1 HG02818.hp1 HG02886.hp2 HG03041.hp2 HG03098.hp2 HG03486.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009	8	288	0.0278	8	c.67 others(17): Show c.677_*678insGTGTGTGA	CARTPT	ENSG00000164326.5	transcript	ENST00000296777.5	protein_coding		248		chr5	TogoVar
CASC3_chr17_40135537_40177171	40140317	A A	AACACACA others(1): Show AACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG02015.hp2 HG02451.hp2 others(3): Show HG01433.hp2 HG02015.hp2 HG02451.hp2 HG02818.hp1 HG02922.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0001g0056 a0001c0001t0001g0069 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0056 a0001c0001t0001g0069 a0001c0001t0001g0106 a0001c0001t0001g0219 a0001c0001t0002g0021	6	132	0.0455	8	c.-23 others(17): Show c.-232_-231insACACACAC	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		219		chr17	TogoVar
CASC3_chr17_40135537_40177171	40140385	C C	CACACCCC others(1): Show CACACCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG02071.hp2 NA18906.hp1 others(1): Show HG01192.hp1 HG02071.hp2 NA18906.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0064 a0001c0001t0001g0103 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0064 a0001c0001t0001g0103 a0001c0001t0001g0105	4	255	0.0157	8	c.-16 others(17): Show c.-164_-163insACACCCCA	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		151		chr17	TogoVar
CASD1_chr7_94504809_94562019	94553786	T T	TTAAATAA others(1): Show TTAAATAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00673.hp2 others(86): Show HG00544.hp2 HG00558.hp1 HG00673.hp2 HG00738.hp2 HG01081.hp2 HG01099.hp2 HG01175.hp2 HG01192.hp2 HG01257.hp1 HG01258.hp1 HG01361.hp2 HG01496.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02602.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp2 HG03017.hp2 HG03098.hp2 HG03239.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18975.hp2 NA18980.hp2 NA18983.hp2 NA18987.hp2 NA18988.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19001.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19056.hp1 NA19060.hp2 NA19062.hp1 NA19078.hp2 NA19079.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0004 a0003c0011 others(1): Show a0001c0001 a0002c0004 a0003c0011 a0004c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0002c0004t0001 a0003c0011t0001 a0004c0010t0006	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(61): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0004g0223 a0001c0001t0007g0161 a0001c0001t0010g0054 a0001c0001t0011g0120 a0002c0004t0001g0001 a0002c0004t0001g0088 a0002c0004t0001g0095 a0002c0004t0001g0099 a0003c0011t0001g0116 a0004c0010t0006g0218	89	285	0.3123	8	c.203 others(25): Show c.2035-672_2035-665dupTAAATAAA	CASD1	ENSG00000127995.17	transcript	ENST00000297273.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASD1_chr7_94504809_94562019	94553815	T T	TAAATAAA others(1): Show TAAATAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02258.hp2 others(15): Show HG01884.hp1 HG02109.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02717.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG03041.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03540.hp1 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0039 others(6): Show a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0039 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0227	18	396	0.0455	8	c.203 others(25): Show c.2035-665_2035-664insTAAAAAAA	CASD1	ENSG00000127995.17	transcript	ENST00000297273.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASD1_chr7_94504809_94562019	94559276	C C	CTGTGTGT others(1): Show CTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG00639.hp1 others(76): Show HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG01123.hp1 HG01257.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01891.hp1 HG01928.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02148.hp2 HG02300.hp2 HG02523.hp1 HG02602.hp1 HG02630.hp2 HG02738.hp1 HG02818.hp2 HG03017.hp1 HG03130.hp2 HG03139.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03669.hp2 HG03927.hp1 HG04199.hp2 HG04204.hp1 NA18942.hp2 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp2 NA18953.hp1 NA18955.hp1 NA18957.hp1 NA18961.hp2 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18992.hp1 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19012.hp1 NA19054.hp2 NA19062.hp2 NA19068.hp1 NA19074.hp2 NA19080.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0003t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0028 others(57): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0028 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0156 a0001c0001t0001g0165 a0001c0001t0001g0172 a0001c0001t0002g0003 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0192 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0004g0009 a0001c0001t0004g0227 a0001c0001t0008g0236 a0001c0001t0008g0239 a0001c0003t0001g0031 a0001c0003t0001g0168 a0001c0003t0001g0169 a0001c0003t0001g0170 a0001c0003t0001g0171	79	246	0.3211	8	c.35 others(19): Show c.3518_*3519insTGTGTGTG	CASD1	ENSG00000127995.17	transcript	ENST00000297273.9	protein_coding		2258		chr7	TogoVar
CASK_chrX_41509934_41928554	41710081	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp1 HG00738.hp1 others(21): Show HG00621.hp1 HG00673.hp1 HG00738.hp1 HG01069.hp1 HG01192.hp1 HG01243.hp1 HG01258.hp1 HG01928.hp1 HG01943.hp1 HG02015.hp1 HG02258.hp1 HG02602.hp1 HG02622.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG06807.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18971.hp1 NA18983.hp1 NA19055.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0004t0001	a0001c0001t0001g0019 a0001c0001t0001g0039 a0001c0001t0001g0040 others(21): Show a0001c0001t0001g0019 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0139 a0001c0001t0003g0072 a0001c0001t0003g0141 a0001c0001t0005g0060 a0001c0001t0005g0062 a0001c0001t0009g0041 a0001c0001t0010g0110 a0001c0004t0001g0063	24	63	0.3810	8	c.429 others(27): Show c.429+29295_429+29302dupCACACACA	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	5/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41770257	C C	CATCTATC others(1): Show CATCTATCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01258.hp1 others(5): Show HG01167.hp1 HG01169.hp1 HG01258.hp1 HG03942.hp1 NA18960.hp1 NA18970.hp1 NA19088.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0055 a0001c0001t0001g0090 a0001c0001t0001g0091 others(5): Show a0001c0001t0001g0055 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0147 a0001c0001t0003g0054 a0001c0001t0007g0004 a0001c0001t0007g0005	8	100	0.0800	8	c.278 others(27): Show c.278+16913_278+16920dupAGATAGAT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	3/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41770295	T T	TCTATCTA others(1): Show TCTATCTAC	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA18953.hp1 NA18955.hp1 others(3): Show HG02300.hp1 NA18953.hp1 NA18955.hp1 NA18971.hp1 NA18989.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0064 others(3): Show a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0087 a0001c0001t0001g0098 a0001c0001t0001g0152	6	144	0.0417	8	c.278 others(27): Show c.278+16882_278+16883insGTAGATAG	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	3/26			chrX	TogoVar

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