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
CACNA1C_chr12_2047987_2702950	2638883	T T	TCAGGTGG others(1): Show TCAGGTGGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG02258.hp1 others(10): Show HG02055.hp2 HG02145.hp2 HG02258.hp1 HG02451.hp1 HG02572.hp1 HG02809.hp2 HG02922.hp2 HG02970.hp2 HG03195.hp2 HG03209.hp1 HG03486.hp1 HG03540.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0001c0017 a0001c0021 a0001c0024 a0001c0033 a0001c0037	a0001c0001t0004 a0001c0001t0005 a0001c0003t0001 others(7): Show a0001c0001t0004 a0001c0001t0005 a0001c0003t0001 a0001c0003t0018 a0001c0005t0026 a0001c0017t0006 a0001c0021t0027 a0001c0024t0003 a0001c0033t0020 a0001c0037t0006	a0001c0001t0004g0004 a0001c0001t0004g0042 a0001c0001t0004g0104 others(10): Show a0001c0001t0004g0004 a0001c0001t0004g0042 a0001c0001t0004g0104 a0001c0001t0005g0043 a0001c0001t0005g0097 a0001c0003t0001g0009 a0001c0003t0018g0073 a0001c0005t0026g0078 a0001c0017t0006g0008 a0001c0021t0027g0087 a0001c0024t0003g0072 a0001c0033t0020g0075 a0001c0037t0006g0027	13	104	0.1250	8	c.391 others(27): Show c.3912+5174_3912+5181dupGGTGGACA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	30/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2677684	C C	CTTGGAGG others(1): Show CTTGGAGGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02280.hp2 HG03041.hp2 others(1): Show HG01496.hp2 HG02280.hp2 HG03041.hp2 HG03225.hp1	a0003 a0003	a0003c0016 a0003c0023 a0003c0027 others(1): Show a0003c0016 a0003c0023 a0003c0027 a0003c0035	a0003c0016t0011 a0003c0023t0011 a0003c0027t0011 others(1): Show a0003c0016t0011 a0003c0023t0011 a0003c0027t0011 a0003c0035t0025	a0003c0016t0011g0082 a0003c0023t0011g0048 a0003c0027t0011g0012 others(1): Show a0003c0016t0011g0082 a0003c0023t0011g0048 a0003c0027t0011g0012 a0003c0035t0025g0077	4	104	0.0385	8	c.495 others(23): Show c.4957-48_4957-41dupTTGGAGGA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	40/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1D_chr3_53489611_53818733	53520849	C C	CCTTTCTT others(1): Show CCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG01070.hp1 others(10): Show HG00280.hp1 HG00639.hp1 HG01070.hp1 HG01496.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp1 HG02559.hp1 HG02647.hp2 HG03453.hp2 HG04204.hp1 NA18986.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0001c0013	a0001c0001t0001 a0001c0002t0009 a0001c0002t0014 others(9): Show a0001c0001t0001 a0001c0002t0009 a0001c0002t0014 a0001c0002t0063 a0001c0003t0001 a0001c0003t0003 a0001c0003t0023 a0001c0003t0037 a0001c0003t0051 a0001c0004t0003 a0001c0010t0002 a0001c0013t0042	a0001c0001t0001g0173 a0001c0002t0009g0107 a0001c0002t0014g0021 others(10): Show a0001c0001t0001g0173 a0001c0002t0009g0107 a0001c0002t0014g0021 a0001c0002t0063g0042 a0001c0003t0001g0140 a0001c0003t0001g0204 a0001c0003t0003g0057 a0001c0003t0023g0118 a0001c0003t0037g0038 a0001c0003t0051g0120 a0001c0004t0003g0079 a0001c0010t0002g0092 a0001c0013t0042g0102	13	175	0.0743	8	c.483 others(27): Show c.483+19170_483+19177dupCTTTCTTT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53542580	T T	TTAAATAA others(1): Show TTAAATAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG01361.hp2 others(19): Show HG00642.hp2 HG00735.hp1 HG01361.hp2 HG01884.hp2 HG02258.hp2 HG02559.hp2 HG02615.hp2 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03139.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0012 a0001c0014 a0004c0016	a0001c0001t0001 a0001c0001t0032 a0001c0001t0067 others(14): Show a0001c0001t0001 a0001c0001t0032 a0001c0001t0067 a0001c0002t0006 a0001c0002t0010 a0001c0002t0019 a0001c0002t0028 a0001c0002t0036 a0001c0002t0062 a0001c0003t0037 a0001c0004t0039 a0001c0006t0001 a0001c0007t0031 a0001c0009t0018 a0001c0012t0027 a0001c0014t0002 a0004c0016t0058	a0001c0001t0001g0136 a0001c0001t0032g0206 a0001c0001t0067g0001 others(19): Show a0001c0001t0001g0136 a0001c0001t0032g0206 a0001c0001t0067g0001 a0001c0002t0006g0189 a0001c0002t0006g0192 a0001c0002t0010g0138 a0001c0002t0010g0139 a0001c0002t0010g0190 a0001c0002t0010g0195 a0001c0002t0019g0029 a0001c0002t0028g0188 a0001c0002t0036g0202 a0001c0002t0062g0191 a0001c0003t0037g0038 a0001c0004t0039g0028 a0001c0006t0001g0135 a0001c0007t0031g0187 a0001c0007t0031g0194 a0001c0009t0018g0085 a0001c0012t0027g0193 a0001c0014t0002g0117 a0004c0016t0058g0208	22	69	0.3188	8	c.483 others(27): Show c.483+40877_483+40884dupTAAATAAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53651366	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG01070.hp2 others(15): Show HG00323.hp1 HG00642.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01169.hp1 HG01175.hp1 HG01256.hp2 HG02258.hp1 HG02273.hp2 HG02647.hp1 HG02698.hp1 HG03669.hp2 HG04199.hp1 HG04199.hp2 NA18963.hp1 NA18994.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010 a0001c0011 a0001c0018 a0002c0020	a0001c0001t0003 a0001c0001t0004 a0001c0001t0022 others(12): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0022 a0001c0001t0074 a0001c0002t0006 a0001c0002t0025 a0001c0004t0001 a0001c0004t0004 a0001c0004t0008 a0001c0004t0012 a0001c0004t0039 a0001c0010t0038 a0001c0011t0026 a0001c0018t0001 a0002c0020t0004	a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0004g0137 others(15): Show a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0004g0137 a0001c0001t0022g0060 a0001c0001t0074g0009 a0001c0002t0006g0180 a0001c0002t0025g0067 a0001c0004t0001g0150 a0001c0004t0001g0152 a0001c0004t0004g0147 a0001c0004t0008g0048 a0001c0004t0012g0145 a0001c0004t0039g0028 a0001c0010t0038g0019 a0001c0010t0038g0037 a0001c0011t0026g0030 a0001c0018t0001g0177 a0002c0020t0004g0182	18	53	0.3396	8	c.623 others(23): Show c.623+463_623+470dupTTTTTTTT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	4/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53663777	G G	GTCTCTCT others(1): Show GTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02723.hp1 HG03471.hp1 others(2): Show HG02486.hp2 HG02723.hp1 HG03471.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0009 a0001c0023 a0001c0009 a0001c0023	a0001c0009t0018 a0001c0009t0029 a0001c0009t0055 others(2): Show a0001c0009t0018 a0001c0009t0029 a0001c0009t0055 a0001c0009t0075 a0001c0023t0076	a0001c0009t0018g0085 a0001c0009t0029g0185 a0001c0009t0055g0184 others(2): Show a0001c0009t0018g0085 a0001c0009t0029g0185 a0001c0009t0055g0184 a0001c0009t0075g0032 a0001c0023t0076g0200	5	202	0.0248	8	c.767 others(25): Show c.767-1869_767-1862dupCTCTCTCT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	5/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53672758	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01884.hp2 HG01978.hp1 others(1): Show HG00280.hp2 HG01884.hp2 HG01978.hp1 NA18974.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0008 a0001c0003t0037 others(1): Show a0001c0003t0001 a0001c0003t0008 a0001c0003t0037 a0001c0003t0060	a0001c0003t0001g0161 a0001c0003t0008g0073 a0001c0003t0037g0038 others(1): Show a0001c0003t0001g0161 a0001c0003t0008g0073 a0001c0003t0037g0038 a0001c0003t0060g0176	4	19	0.2105	8	c.111 others(25): Show c.1117-901_1117-894dupGTGTGTGT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	7/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53713543	T T	TGTGTGAG others(1): Show TGTGTGAGA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG03516.hp1 HG02897.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0021 a0001c0002 a0001c0021	a0001c0002t0068 a0001c0021t0035 a0001c0002t0068 a0001c0021t0035	a0001c0002t0068g0039 a0001c0021t0035g0205 a0001c0002t0068g0039 a0001c0021t0035g0205	2	78	0.0256	8	c.139 others(27): Show c.1391-4757_1391-4756insTGTGAGAG	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	9/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53713543	T T	TGTGTGTG others(1): Show TGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp1 HG02559.hp1 others(6): Show HG02258.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02896.hp1 NA18962.hp1 NA18982.hp2 NA19002.hp1 NA19070.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0004c0016	a0001c0001t0015 a0001c0002t0005 a0001c0002t0006 others(3): Show a0001c0001t0015 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0003t0023 a0004c0016t0058	a0001c0001t0015g0031 a0001c0002t0005g0071 a0001c0002t0005g0103 others(6): Show a0001c0001t0015g0031 a0001c0002t0005g0071 a0001c0002t0005g0103 a0001c0002t0005g0105 a0001c0002t0005g0123 a0001c0002t0006g0180 a0001c0002t0007g0035 a0001c0003t0023g0118 a0004c0016t0058g0208	9	85	0.1059	8	c.139 others(27): Show c.1391-4757_1391-4756insTGTGTGAG	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	9/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53733930	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03471.hp2 HG06807.hp1 others(1): Show HG03453.hp2 HG03471.hp2 HG06807.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0014 a0001c0007t0031 a0001c0007t0065 a0001c0002t0014 a0001c0007t0031 a0001c0007t0065	a0001c0002t0014g0021 a0001c0007t0031g0187 a0001c0007t0031g0194 others(1): Show a0001c0002t0014g0021 a0001c0007t0031g0187 a0001c0007t0031g0194 a0001c0007t0065g0199	4	83	0.0482	8	c.268 others(25): Show c.2681+984_2681+991dupGTGTGTGT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	20/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53747781	C C	CCATTCAT others(1): Show CCATTCATT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02886.hp2 HG03041.hp2 others(3): Show HG02723.hp2 HG02886.hp2 HG03041.hp2 HG03209.hp2 HG03453.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0036 a0001c0002t0059 a0001c0002t0006 a0001c0002t0036 a0001c0002t0059	a0001c0002t0006g0011 a0001c0002t0006g0189 a0001c0002t0006g0192 others(3): Show a0001c0002t0006g0011 a0001c0002t0006g0189 a0001c0002t0006g0192 a0001c0002t0036g0034 a0001c0002t0036g0202 a0001c0002t0059g0144	6	57	0.1053	8	c.337 others(25): Show c.3374+363_3374+370dupATTCATTC	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	27/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53782262	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA19030.hp2 HG03471.hp2 NA19030.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0031 a0001c0007t0065 a0001c0007t0031 a0001c0007t0065	a0001c0007t0031g0187 a0001c0007t0065g0199 a0001c0007t0031g0187 a0001c0007t0065g0199	2	176	0.0114	8	c.485 others(25): Show c.4852+596_4852+597insATATATAT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	40/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53782264	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp2 HG01496.hp1 others(14): Show HG00323.hp1 HG00621.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01891.hp2 HG01952.hp2 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02602.hp2 HG02965.hp1 HG03017.hp1 HG03704.hp1 NA19240.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0003c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0005 a0001c0002t0014 a0001c0002t0020 a0001c0002t0025 a0001c0003t0001 a0001c0003t0002 a0001c0003t0051 a0001c0005t0007 a0001c0009t0055 a0003c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0149 a0001c0001t0001g0173 others(14): Show a0001c0001t0001g0002 a0001c0001t0001g0149 a0001c0001t0001g0173 a0001c0001t0002g0062 a0001c0001t0002g0109 a0001c0001t0003g0128 a0001c0002t0005g0098 a0001c0002t0014g0003 a0001c0002t0020g0126 a0001c0002t0025g0067 a0001c0003t0001g0166 a0001c0003t0002g0089 a0001c0003t0002g0093 a0001c0003t0051g0120 a0001c0005t0007g0174 a0001c0009t0055g0184 a0003c0015t0001g0141	17	37	0.4595	8	c.485 others(25): Show c.4852+619_4852+626dupATATATAT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	40/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53782264	G G	GTGTATAT others(1): Show GTGTATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG01175.hp1 others(8): Show HG00323.hp2 HG00642.hp1 HG01175.hp1 HG01256.hp1 HG01884.hp2 HG01934.hp1 HG02055.hp2 HG02683.hp1 HG03540.hp1 HG06807.hp1 NA18961.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0005c0019	a0001c0001t0002 a0001c0001t0004 a0001c0001t0022 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0022 a0001c0001t0044 a0001c0002t0020 a0001c0003t0004 a0001c0003t0037 a0001c0004t0004 a0001c0007t0031 a0005c0019t0001	a0001c0001t0002g0122 a0001c0001t0004g0207 a0001c0001t0022g0056 others(8): Show a0001c0001t0002g0122 a0001c0001t0004g0207 a0001c0001t0022g0056 a0001c0001t0044g0063 a0001c0002t0020g0113 a0001c0003t0004g0162 a0001c0003t0037g0020 a0001c0003t0037g0038 a0001c0004t0004g0147 a0001c0007t0031g0194 a0005c0019t0001g0016	11	31	0.3548	8	c.485 others(25): Show c.4852+598_4852+599insGTATATAT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	40/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53787425	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00673.hp1 HG01081.hp2 others(7): Show HG00639.hp1 HG00673.hp1 HG01081.hp2 HG01109.hp1 HG02280.hp1 HG02647.hp2 HG02809.hp2 HG02922.hp2 NA18961.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0001c0012 a0001c0024	a0001c0001t0002 a0001c0001t0047 a0001c0002t0050 others(7): Show a0001c0001t0002 a0001c0001t0047 a0001c0002t0050 a0001c0002t0053 a0001c0002t0063 a0001c0003t0002 a0001c0005t0061 a0001c0010t0002 a0001c0012t0006 a0001c0024t0078	a0001c0001t0002g0091 a0001c0001t0047g0086 a0001c0002t0050g0121 others(7): Show a0001c0001t0002g0091 a0001c0001t0047g0086 a0001c0002t0050g0121 a0001c0002t0053g0006 a0001c0002t0063g0042 a0001c0003t0002g0065 a0001c0005t0061g0148 a0001c0010t0002g0092 a0001c0012t0006g0132 a0001c0024t0078g0040	10	67	0.1493	8	c.498 others(25): Show c.4983+495_4983+502dupGTGTGTGT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	41/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1E_chr1_181478517_181813084	181481335	T T	TACACACA others(1): Show TACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00597.hp2 HG00741.hp2 others(8): Show HG00280.hp1 HG00597.hp2 HG00741.hp2 HG01175.hp1 HG01192.hp2 HG01258.hp1 HG01978.hp1 HG02040.hp2 HG03209.hp1 NA18942.hp2 NA18988.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0011 a0002c0002 others(2): Show a0001c0001 a0001c0011 a0002c0002 a0002c0030 a0011c0028	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(8): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0017 a0001c0001t0076 a0001c0011t0004 a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 a0002c0030t0079 a0011c0028t0068	a0001c0001t0003g0044 a0001c0001t0004g0078 a0001c0001t0006g0050 others(8): Show a0001c0001t0003g0044 a0001c0001t0004g0078 a0001c0001t0006g0050 a0001c0001t0017g0045 a0001c0001t0076g0087 a0001c0011t0004g0091 a0002c0002t0001g0023 a0002c0002t0003g0051 a0002c0002t0007g0069 a0002c0030t0079g0006 a0011c0028t0068g0055	11	94	0.1170	8	c.-24 others(19): Show c.-2410_-2409insACACACAC	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding		2181		chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181508147	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp2 HG01258.hp1 others(9): Show HG00597.hp2 HG00673.hp2 HG01258.hp1 HG01993.hp1 HG02015.hp1 HG02071.hp1 HG02523.hp1 HG02922.hp2 HG03471.hp2 NA18964.hp1 NA18968.hp1 NA18988.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0002c0002	a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 others(7): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0017 a0001c0004t0008 a0001c0004t0045 a0001c0005t0026 a0002c0002t0003 a0002c0002t0015 a0002c0002t0044	a0001c0001t0003g0044 a0001c0001t0006g0042 a0001c0001t0009g0049 others(9): Show a0001c0001t0003g0044 a0001c0001t0006g0042 a0001c0001t0009g0049 a0001c0001t0017g0045 a0001c0001t0017g0046 a0001c0004t0008g0032 a0001c0004t0045g0047 a0001c0005t0026g0031 a0002c0002t0003g0043 a0002c0002t0003g0051 a0002c0002t0015g0108 a0002c0002t0044g0053	12	81	0.1481	8	c.267 others(25): Show c.267-2309_267-2302dupTGTGTGTG	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181548130	T T	TTTCTTTT others(1): Show TTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01074.hp1 HG01109.hp1 others(14): Show HG01069.hp2 HG01074.hp1 HG01109.hp1 HG01884.hp2 HG02257.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 NA18522.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0009 a0011	a0001c0001 a0001c0004 a0001c0005 others(9): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0002c0002 a0003c0003 a0003c0010 a0003c0014 a0009c0019 a0011c0028	a0001c0001t0011 a0001c0001t0024 a0001c0001t0048 others(12): Show a0001c0001t0011 a0001c0001t0024 a0001c0001t0048 a0001c0001t0073 a0001c0004t0010 a0001c0005t0032 a0001c0006t0025 a0001c0008t0008 a0001c0009t0018 a0002c0002t0020 a0003c0003t0072 a0003c0010t0002 a0003c0014t0069 a0009c0019t0041 a0011c0028t0068	a0001c0001t0011g0038 a0001c0001t0011g0068 a0001c0001t0024g0112 others(14): Show a0001c0001t0011g0038 a0001c0001t0011g0068 a0001c0001t0024g0112 a0001c0001t0048g0054 a0001c0001t0073g0114 a0001c0004t0010g0067 a0001c0005t0032g0099 a0001c0006t0025g0111 a0001c0008t0008g0030 a0001c0008t0008g0039 a0001c0009t0018g0041 a0002c0002t0020g0129 a0003c0003t0072g0066 a0003c0010t0002g0113 a0003c0014t0069g0196 a0009c0019t0041g0116 a0011c0028t0068g0055	17	204	0.0833	8	c.513 others(27): Show c.513-29634_513-29633insCTTTTCTT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181596557	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01496.hp1 HG01934.hp2 others(5): Show HG01358.hp1 HG01496.hp1 HG01934.hp2 HG02132.hp2 NA18968.hp2 NA19057.hp1 NA19057.hp2 NA19084.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 others(3): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0002c0002t0015 a0002c0002t0049 a0003c0003t0001	a0001c0001t0005g0089 a0001c0001t0006g0075 a0001c0001t0006g0183 others(5): Show a0001c0001t0005g0089 a0001c0001t0006g0075 a0001c0001t0006g0183 a0001c0001t0007g0121 a0001c0001t0007g0136 a0002c0002t0015g0048 a0002c0002t0049g0169 a0003c0003t0001g0149	8	21	0.3810	8	c.951 others(27): Show c.951+15814_951+15821dupGTGTGTGT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	6/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181759395	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03098.hp1 HG02965.hp1 HG03098.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0002 a0003c0010t0002	a0003c0010t0002g0035 a0003c0010t0002g0113 a0003c0010t0002g0035 a0003c0010t0002g0113	2	69	0.0290	8	c.460 others(25): Show c.4605+551_4605+558dupGTGTGTGT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	32/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181779819	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00642.hp2 HG00673.hp1 others(25): Show HG00609.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01123.hp1 HG01261.hp2 HG01496.hp2 HG01934.hp2 HG02293.hp2 HG02300.hp1 HG02602.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02976.hp2 HG03017.hp1 HG03239.hp2 HG03710.hp1 HG03834.hp2 NA18972.hp1 NA18983.hp1 NA18988.hp1 NA19003.hp2 NA19082.hp1 NA19085.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0008	a0001c0004 a0001c0024 a0003c0003 others(3): Show a0001c0004 a0001c0024 a0003c0003 a0003c0014 a0004c0007 a0008c0017	a0001c0004t0002 a0001c0024t0067 a0003c0003t0001 others(12): Show a0001c0004t0002 a0001c0024t0067 a0003c0003t0001 a0003c0003t0004 a0003c0003t0005 a0003c0003t0010 a0003c0003t0014 a0003c0003t0022 a0003c0003t0023 a0003c0003t0060 a0003c0003t0072 a0003c0014t0069 a0004c0007t0023 a0004c0007t0046 a0008c0017t0001	a0001c0004t0002g0071 a0001c0024t0067g0004 a0003c0003t0001g0009 others(25): Show a0001c0004t0002g0071 a0001c0024t0067g0004 a0003c0003t0001g0009 a0003c0003t0001g0076 a0003c0003t0001g0096 a0003c0003t0001g0106 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0149 a0003c0003t0001g0200 a0003c0003t0004g0124 a0003c0003t0005g0083 a0003c0003t0005g0152 a0003c0003t0005g0170 a0003c0003t0005g0180 a0003c0003t0005g0190 a0003c0003t0005g0192 a0003c0003t0010g0127 a0003c0003t0014g0082 a0003c0003t0022g0177 a0003c0003t0022g0193 a0003c0003t0023g0182 a0003c0003t0060g0079 a0003c0003t0072g0066 a0003c0014t0069g0196 a0004c0007t0023g0011 a0004c0007t0046g0007 a0008c0017t0001g0020	28	73	0.3836	8	c.526 others(27): Show c.5268-1584_5268-1577dupCACACACA	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	38/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1F_chrX_49200063_49238340	49235826	T T	TACACACA others(1): Show TACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01884.hp2 HG01934.hp1 others(9): Show HG00738.hp1 HG01884.hp2 HG01934.hp1 HG02280.hp1 HG02280.hp2 HG02647.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG03130.hp1 HG03195.hp1 NA19064.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0118 a0003c0004t0001g0006 a0003c0004t0001g0040 others(4): Show a0001c0001t0001g0118 a0003c0004t0001g0006 a0003c0004t0001g0040 a0003c0004t0001g0041 a0003c0004t0001g0154 a0003c0004t0001g0155 a0003c0004t0001g0158	12	172	0.0698	8	c.-25 others(19): Show c.-2525_-2518dupGTGTGTGT	CACNA1F	ENSG00000102001.13	transcript	ENST00000323022.10	protein_coding		2487		chrX	TogoVar
CACNA1F_chrX_49200063_49238340	49235851	A A	ACACACAC others(1): Show ACACACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(97): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02040.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02523.hp1 HG02698.hp1 HG02735.hp1 HG02818.hp2 HG03017.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG03834.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18939.hp1 NA18941.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18952.hp1 NA18953.hp1 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18964.hp1 NA18965.hp1 NA18977.hp1 NA18979.hp2 NA18984.hp1 NA18994.hp1 NA19000.hp1 NA19001.hp2 NA19004.hp1 NA19010.hp2 NA19058.hp1 NA19064.hp1 NA19074.hp2 NA19077.hp2 NA19081.hp2 NA19083.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0010	a0001c0002 a0001c0006 a0001c0014 others(6): Show a0001c0002 a0001c0006 a0001c0014 a0002c0003 a0002c0012 a0002c0013 a0002c0022 a0005c0008 a0010c0011	a0001c0002t0001 a0001c0006t0001 a0001c0014t0001 others(6): Show a0001c0002t0001 a0001c0006t0001 a0001c0014t0001 a0002c0003t0001 a0002c0012t0001 a0002c0013t0001 a0002c0022t0001 a0005c0008t0001 a0010c0011t0001	a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0008 others(55): Show a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0008 a0001c0002t0001g0017 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0033 a0001c0002t0001g0059 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0079 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0094 a0001c0002t0001g0097 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0006t0001g0018 a0001c0006t0001g0031 a0001c0006t0001g0076 a0001c0014t0001g0075 a0002c0003t0001g0003 a0002c0003t0001g0009 a0002c0003t0001g0010 a0002c0003t0001g0016 a0002c0003t0001g0028 a0002c0003t0001g0032 a0002c0003t0001g0058 a0002c0003t0001g0060 a0002c0003t0001g0065 a0002c0003t0001g0080 a0002c0003t0001g0095 a0002c0003t0001g0096 a0002c0003t0001g0098 a0002c0003t0001g0100 a0002c0003t0001g0101 a0002c0012t0001g0078 a0002c0013t0001g0081 a0002c0022t0001g0056 a0005c0008t0001g0057 a0010c0011t0001g0074	100	277	0.3610	8	c.-25 others(19): Show c.-2543_-2542insCGTGTGTG	CACNA1F	ENSG00000102001.13	transcript	ENST00000323022.10	protein_coding		2512		chrX	TogoVar
CACNA1G_chr17_50555715_50632474	50564125	A A	AGTGTGTG others(1): Show AGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp1 HG02818.hp1 others(2): Show HG01243.hp1 HG02145.hp1 HG02818.hp1 HG03453.hp2 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0013 a0001c0003 a0001c0013	a0001c0003t0001 a0001c0003t0002 a0001c0013t0001 a0001c0003t0001 a0001c0003t0002 a0001c0013t0001	a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0135 others(2): Show a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0002g0216 a0001c0013t0001g0136	5	35	0.1429	8	c.242 others(25): Show c.242+2455_242+2462dupGTGTGTGT	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNA1G_chr17_50555715_50632474	50569015	T T	TGTGTGTT others(1): Show TGTGTGTTG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03453.hp1 NA18906.hp1 others(1): Show HG02976.hp1 HG03453.hp1 NA18906.hp1 NA21309.hp2	a0001 a0001	a0001c0011 a0001c0044 a0001c0011 a0001c0044	a0001c0011t0001 a0001c0011t0002 a0001c0011t0004 others(1): Show a0001c0011t0001 a0001c0011t0002 a0001c0011t0004 a0001c0044t0001	a0001c0011t0001g0186 a0001c0011t0002g0236 a0001c0011t0004g0143 others(1): Show a0001c0011t0001g0186 a0001c0011t0002g0236 a0001c0011t0004g0143 a0001c0044t0001g0212	4	85	0.0471	8	c.354 others(21): Show c.354+34_354+35insGTGTGTTG	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	2/37			chr17	TogoVar
CACNA1G_chr17_50555715_50632474	50570557	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02922.hp1 HG03471.hp2 HG01891.hp1 HG02922.hp1 HG03471.hp2	a0001 a0005 a0001 a0005	a0001c0006 a0005c0019 a0001c0006 a0005c0019	a0001c0006t0001 a0005c0019t0002 a0001c0006t0001 a0005c0019t0002	a0001c0006t0001g0214 a0005c0019t0002g0064 a0005c0019t0002g0072 a0001c0006t0001g0214 a0005c0019t0002g0064 a0005c0019t0002g0072	3	67	0.0448	8	c.586 others(23): Show c.586+779_586+786dupTGTGTGTG	CACNA1G	ENSG00000006283.18	transcript	ENST00000359106.10	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNA1H_chr16_1148106_1226768	1185865	G G	GGTCGGCG others(1): Show GGTCGGCGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01981.hp2 HG03225.hp2 HG01261.hp2 HG01981.hp2 HG03225.hp2	a0003 a0013 a0022 a0003 a0013 a0022	a0003c0015 a0013c0026 a0022c0064 a0003c0015 a0013c0026 a0022c0064	a0003c0015t0017 a0013c0026t0008 a0022c0064t0030 a0003c0015t0017 a0013c0026t0008 a0022c0064t0030	a0003c0015t0017g0272 a0013c0026t0008g0278 a0022c0064t0030g0276 a0003c0015t0017g0272 a0013c0026t0008g0278 a0022c0064t0030g0276	3	213	0.0141	8	c.300 others(25): Show c.300-9106_300-9105insTCGGCGTG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185911	G G	GGTCAGCG others(1): Show GGTCAGCGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02717.hp1 others(2): Show HG01884.hp1 HG02055.hp2 HG02717.hp1 HG03540.hp1 NA19030.hp1	a0002 a0003 a0039 a0002 a0003 a0039	a0002c0002 a0002c0063 a0003c0028 others(2): Show a0002c0002 a0002c0063 a0003c0028 a0003c0068 a0039c0074	a0002c0002t0001 a0002c0063t0001 a0003c0028t0004 others(2): Show a0002c0002t0001 a0002c0063t0001 a0003c0028t0004 a0003c0068t0004 a0039c0074t0001	a0002c0002t0001g0284 a0002c0063t0001g0287 a0003c0028t0004g0027 others(2): Show a0002c0002t0001g0284 a0002c0063t0001g0287 a0003c0028t0004g0027 a0003c0068t0004g0290 a0039c0074t0001g0283	5	305	0.0164	8	c.300 others(25): Show c.300-9060_300-9059insTCAGCGTG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185911	G G	GGTCGGCG others(1): Show GGTCGGCGT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01081.hp2 HG01261.hp2 others(11): Show HG00423.hp2 HG01081.hp2 HG01261.hp2 HG02040.hp1 HG02486.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03225.hp2 HG03516.hp2 HG04204.hp1 NA19090.hp2 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0022 a0061	a0001c0001 a0002c0002 a0002c0007 others(8): Show a0001c0001 a0002c0002 a0002c0007 a0002c0055 a0002c0135 a0003c0015 a0003c0022 a0003c0060 a0022c0064 a0022c0066 a0061c0079	a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 a0001c0001t0031 a0002c0002t0001 a0002c0007t0002 a0002c0055t0001 a0002c0135t0040 a0003c0015t0017 a0003c0022t0019 a0003c0060t0036 a0022c0064t0030 a0022c0066t0023 a0061c0079t0004	a0001c0001t0001g0299 a0001c0001t0002g0097 a0001c0001t0021g0301 others(11): Show a0001c0001t0001g0299 a0001c0001t0002g0097 a0001c0001t0021g0301 a0001c0001t0031g0164 a0002c0002t0001g0017 a0002c0007t0002g0238 a0002c0055t0001g0214 a0002c0135t0040g0282 a0003c0015t0017g0272 a0003c0022t0019g0024 a0003c0060t0036g0317 a0022c0064t0030g0276 a0022c0066t0023g0231 a0061c0079t0004g0035	14	314	0.0446	8	c.300 others(25): Show c.300-9060_300-9059insTCGGCGTG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1186057	G G	GGTCGGCG others(1): Show GGTCGGCGT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG01261.hp2 others(18): Show HG00558.hp1 HG00558.hp2 HG01261.hp2 HG01981.hp2 HG02055.hp1 HG02074.hp2 HG02109.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02717.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03225.hp2 HG03540.hp2 HG03579.hp2 HG04204.hp1 NA18959.hp2 NA18980.hp1 NA20129.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0013 a0022 a0027 a0044 a0054 a0061 a0065 a0072	a0001c0001 a0002c0002 a0002c0007 others(15): Show a0001c0001 a0002c0002 a0002c0007 a0002c0039 a0002c0055 a0002c0058 a0003c0015 a0003c0028 a0003c0060 a0013c0026 a0022c0064 a0022c0066 a0027c0045 a0044c0130 a0054c0042 a0061c0079 a0065c0067 a0072c0118	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(17): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0007t0002 a0002c0007t0010 a0002c0039t0003 a0002c0055t0001 a0002c0058t0022 a0003c0015t0017 a0003c0028t0004 a0003c0060t0036 a0013c0026t0008 a0022c0064t0030 a0022c0066t0023 a0027c0045t0005 a0044c0130t0004 a0054c0042t0003 a0061c0079t0004 a0065c0067t0019 a0072c0118t0010	a0001c0001t0001g0322 a0001c0001t0002g0194 a0002c0002t0001g0017 others(18): Show a0001c0001t0001g0322 a0001c0001t0002g0194 a0002c0002t0001g0017 a0002c0002t0001g0041 a0002c0007t0002g0238 a0002c0007t0010g0084 a0002c0039t0003g0228 a0002c0055t0001g0214 a0002c0058t0022g0026 a0003c0015t0017g0272 a0003c0028t0004g0325 a0003c0060t0036g0317 a0013c0026t0008g0278 a0022c0064t0030g0276 a0022c0066t0023g0231 a0027c0045t0005g0275 a0044c0130t0004g0315 a0054c0042t0003g0229 a0061c0079t0004g0035 a0065c0067t0019g0323 a0072c0118t0010g0195	21	318	0.0660	8	c.300 others(25): Show c.300-8914_300-8913insTCGGCGTG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1214580	G G	GCCCATGT others(1): Show GCCCATGTC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02970.hp1 NA18967.hp1 others(4): Show HG00597.hp1 HG02970.hp1 NA18967.hp1 NA18970.hp2 NA19011.hp1 NA19085.hp1 NA19085.hp2	a0001 a0059 a0001 a0059	a0001c0001 a0059c0044 a0001c0001 a0059c0044	a0001c0001t0001 a0001c0001t0002 a0059c0044t0006 a0001c0001t0001 a0001c0001t0002 a0059c0044t0006	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 others(4): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0327 a0001c0001t0002g0087 a0001c0001t0002g0145 a0059c0044t0006g0193	7	336	0.0208	8	c.493 others(25): Show c.4930-380_4930-373dupATGTCCCC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39570246	C C	CCCTTCCT others(1): Show CCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG02698.hp2 HG04204.hp1 HG01993.hp1 HG02698.hp2 HG04204.hp1	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0003 a0004c0004 a0006c0012 a0002c0003 a0004c0004 a0006c0012	a0002c0003t0025 a0004c0004t0059 a0006c0012t0003 a0002c0003t0025 a0004c0004t0059 a0006c0012t0003	a0002c0003t0025g0028 a0004c0004t0059g0058 a0006c0012t0003g0013 a0002c0003t0025g0028 a0004c0004t0059g0058 a0006c0012t0003g0013	3	120	0.0250	8	c.-50 others(17): Show c.-507_-506insCCTTCCTT	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding		506		chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39570289	T T	TTCCCTCC others(1): Show TTCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG01515.hp2 HG01516.hp2 others(14): Show HG00544.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02717.hp1 HG02886.hp2 HG02976.hp2 HG03486.hp1 HG03516.hp2 NA18612.hp2 NA18947.hp2 NA18966.hp1 NA20300.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0018 a0002c0003 others(1): Show a0001c0001 a0001c0018 a0002c0003 a0005c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0039 a0001c0001t0046 a0001c0018t0002 a0002c0003t0001 a0005c0007t0006 a0005c0007t0060	a0001c0001t0002g0117 a0001c0001t0003g0115 a0001c0001t0003g0116 others(14): Show a0001c0001t0002g0117 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0151 a0001c0001t0008g0131 a0001c0001t0039g0121 a0001c0001t0046g0114 a0001c0018t0002g0157 a0001c0018t0002g0158 a0002c0003t0001g0162 a0005c0007t0006g0096 a0005c0007t0006g0097 a0005c0007t0006g0098 a0005c0007t0006g0099 a0005c0007t0006g0100 a0005c0007t0006g0101 a0005c0007t0060g0095	17	90	0.1889	8	c.-46 others(17): Show c.-464_-463insTCCCTCCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding		463		chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39586493	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp2 HG01175.hp1 others(7): Show HG00639.hp2 HG01109.hp2 HG01175.hp1 HG01496.hp2 HG02145.hp1 HG02622.hp1 HG02818.hp1 HG02896.hp2 HG03098.hp2 NA18906.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0014 a0001c0020 a0001c0026 others(4): Show a0001c0014 a0001c0020 a0001c0026 a0002c0003 a0003c0008 a0003c0024 a0011c0021	a0001c0014t0012 a0001c0020t0001 a0001c0026t0056 others(5): Show a0001c0014t0012 a0001c0020t0001 a0001c0026t0056 a0002c0003t0001 a0003c0008t0005 a0003c0008t0006 a0003c0024t0005 a0011c0021t0022	a0001c0014t0012g0126 a0001c0020t0001g0176 a0001c0026t0056g0071 others(7): Show a0001c0014t0012g0126 a0001c0020t0001g0176 a0001c0026t0056g0071 a0002c0003t0001g0073 a0003c0008t0005g0177 a0003c0008t0006g0093 a0003c0008t0006g0094 a0003c0024t0005g0174 a0003c0024t0005g0175 a0011c0021t0022g0087	10	202	0.0495	8	c.237 others(27): Show c.237-11634_237-11627dupTAAATAAA	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39601892	A A	ACCCTCCC others(1): Show ACCCTCCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(71): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00609.hp2 HG00733.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01516.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02055.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02273.hp1 HG02293.hp2 HG02572.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG03139.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18612.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp2 NA18954.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp2 NA18982.hp1 NA18982.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19091.hp1 NA19091.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0006 a0013 a0015 a0017 a0020	a0001c0001 a0001c0002 a0001c0009 others(13): Show a0001c0001 a0001c0002 a0001c0009 a0001c0030 a0001c0046 a0001c0050 a0002c0003 a0002c0032 a0004c0006 a0004c0049 a0006c0012 a0006c0015 a0013c0037 a0015c0048 a0017c0035 a0020c0043	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(32): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0021 a0001c0001t0038 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0011 a0001c0002t0014 a0001c0002t0017 a0001c0002t0045 a0001c0009t0003 a0001c0009t0004 a0001c0009t0007 a0001c0030t0005 a0001c0046t0003 a0001c0050t0003 a0002c0003t0001 a0002c0032t0013 a0004c0006t0014 a0004c0006t0023 a0004c0006t0037 a0004c0049t0040 a0006c0012t0003 a0006c0015t0002 a0013c0037t0041 a0015c0048t0002 a0017c0035t0044 a0020c0043t0007	a0001c0001t0002g0123 a0001c0001t0002g0163 a0001c0001t0003g0041 others(71): Show a0001c0001t0002g0123 a0001c0001t0002g0163 a0001c0001t0003g0041 a0001c0001t0003g0122 a0001c0001t0003g0151 a0001c0001t0003g0153 a0001c0001t0003g0160 a0001c0001t0003g0165 a0001c0001t0003g0173 a0001c0001t0004g0133 a0001c0001t0009g0134 a0001c0001t0021g0039 a0001c0001t0021g0040 a0001c0001t0038g0161 a0001c0001t0047g0168 a0001c0001t0048g0128 a0001c0001t0050g0152 a0001c0002t0002g0179 a0001c0002t0002g0188 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0204 a0001c0002t0002g0206 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0218 a0001c0002t0002g0230 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0003g0180 a0001c0002t0003g0184 a0001c0002t0003g0186 a0001c0002t0003g0213 a0001c0002t0003g0214 a0001c0002t0003g0222 a0001c0002t0003g0229 a0001c0002t0004g0183 a0001c0002t0004g0187 a0001c0002t0004g0190 a0001c0002t0004g0196 a0001c0002t0004g0197 a0001c0002t0004g0198 a0001c0002t0004g0212 a0001c0002t0004g0233 a0001c0002t0007g0199 a0001c0002t0007g0219 a0001c0002t0007g0221 a0001c0002t0007g0226 a0001c0002t0011g0069 a0001c0002t0014g0227 a0001c0002t0017g0220 a0001c0002t0045g0195 a0001c0009t0003g0103 a0001c0009t0004g0132 a0001c0009t0007g0104 a0001c0009t0007g0105 a0001c0030t0005g0127 a0001c0046t0003g0185 a0001c0050t0003g0201 a0002c0003t0001g0156 a0002c0003t0001g0159 a0002c0032t0013g0211 a0004c0006t0014g0216 a0004c0006t0023g0228 a0004c0006t0037g0207 a0004c0049t0040g0182 a0006c0012t0003g0013 a0006c0015t0002g0189 a0006c0015t0002g0224 a0006c0015t0002g0225 a0013c0037t0041g0166 a0015c0048t0002g0215 a0017c0035t0044g0167 a0020c0043t0007g0149	74	227	0.3260	8	c.482 others(25): Show c.482+1258_482+1265dupCTCCCTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39601979	C C	CCCTTCCT others(1): Show CCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(58): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00609.hp2 HG00733.hp1 HG01071.hp2 HG01106.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01516.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02055.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02155.hp1 HG02257.hp2 HG02273.hp1 HG02293.hp2 HG02572.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02886.hp2 HG03139.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18612.hp1 NA18945.hp2 NA18947.hp1 NA18954.hp1 NA18969.hp2 NA18982.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19091.hp1 NA20805.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0006 a0013 a0015 a0020	a0001c0001 a0001c0002 a0001c0009 others(13): Show a0001c0001 a0001c0002 a0001c0009 a0001c0030 a0001c0046 a0001c0050 a0002c0003 a0002c0032 a0004c0006 a0004c0049 a0005c0007 a0006c0012 a0006c0015 a0013c0037 a0015c0048 a0020c0043	a0001c0001t0002 a0001c0001t0003 a0001c0001t0021 others(28): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0021 a0001c0001t0048 a0001c0001t0050 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0011 a0001c0002t0014 a0001c0002t0017 a0001c0002t0045 a0001c0009t0003 a0001c0009t0004 a0001c0009t0007 a0001c0030t0005 a0001c0046t0003 a0001c0050t0003 a0002c0003t0001 a0002c0032t0013 a0004c0006t0014 a0004c0006t0023 a0004c0006t0037 a0004c0049t0040 a0005c0007t0006 a0006c0012t0003 a0006c0015t0002 a0013c0037t0041 a0015c0048t0002 a0020c0043t0007	a0001c0001t0002g0123 a0001c0001t0002g0163 a0001c0001t0003g0041 others(58): Show a0001c0001t0002g0123 a0001c0001t0002g0163 a0001c0001t0003g0041 a0001c0001t0003g0122 a0001c0001t0003g0151 a0001c0001t0003g0153 a0001c0001t0003g0160 a0001c0001t0021g0039 a0001c0001t0021g0040 a0001c0001t0048g0128 a0001c0001t0050g0152 a0001c0002t0002g0179 a0001c0002t0002g0188 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0204 a0001c0002t0002g0206 a0001c0002t0002g0209 a0001c0002t0002g0218 a0001c0002t0002g0230 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0003g0180 a0001c0002t0003g0184 a0001c0002t0003g0186 a0001c0002t0003g0213 a0001c0002t0003g0214 a0001c0002t0003g0229 a0001c0002t0004g0187 a0001c0002t0004g0190 a0001c0002t0004g0233 a0001c0002t0007g0199 a0001c0002t0007g0219 a0001c0002t0007g0221 a0001c0002t0007g0226 a0001c0002t0011g0069 a0001c0002t0014g0227 a0001c0002t0017g0220 a0001c0002t0045g0195 a0001c0009t0003g0103 a0001c0009t0004g0132 a0001c0009t0007g0104 a0001c0009t0007g0105 a0001c0030t0005g0127 a0001c0046t0003g0185 a0001c0050t0003g0201 a0002c0003t0001g0156 a0002c0003t0001g0159 a0002c0032t0013g0211 a0004c0006t0014g0216 a0004c0006t0023g0228 a0004c0006t0037g0207 a0004c0049t0040g0182 a0005c0007t0006g0096 a0006c0012t0003g0013 a0006c0015t0002g0189 a0006c0015t0002g0224 a0006c0015t0002g0225 a0013c0037t0041g0166 a0015c0048t0002g0215 a0020c0043t0007g0149	61	174	0.3506	8	c.482 others(25): Show c.482+1341_482+1348dupTTCCTTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39620012	T T	TATCCATC others(1): Show TATCCATCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp2 others(58): Show HG00099.hp1 HG00280.hp2 HG00408.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00733.hp2 HG01071.hp2 HG01099.hp2 HG01106.hp2 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG02572.hp1 HG02622.hp1 HG02683.hp1 HG02698.hp2 HG03098.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG04184.hp2 HG04199.hp1 NA18522.hp1 NA18906.hp2 NA18945.hp1 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18982.hp1 NA18982.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19091.hp1 NA19091.hp2 NA20805.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0013 a0015 a0017 a0020	a0001c0001 a0001c0002 a0001c0009 others(16): Show a0001c0001 a0001c0002 a0001c0009 a0001c0014 a0001c0018 a0001c0020 a0002c0003 a0002c0032 a0003c0008 a0003c0024 a0004c0004 a0004c0006 a0004c0049 a0006c0012 a0006c0015 a0013c0037 a0015c0048 a0017c0035 a0020c0043	a0001c0001t0002 a0001c0001t0003 a0001c0001t0021 others(29): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0021 a0001c0001t0050 a0001c0001t0057 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0011 a0001c0002t0014 a0001c0009t0004 a0001c0009t0007 a0001c0014t0012 a0001c0018t0002 a0001c0020t0001 a0002c0003t0001 a0002c0032t0013 a0003c0008t0006 a0003c0024t0005 a0004c0004t0016 a0004c0006t0014 a0004c0006t0018 a0004c0006t0023 a0004c0006t0037 a0004c0049t0040 a0006c0012t0003 a0006c0015t0002 a0013c0037t0041 a0015c0048t0002 a0017c0035t0044 a0020c0043t0007	a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 others(58): Show a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0163 a0001c0001t0003g0165 a0001c0001t0003g0173 a0001c0001t0021g0039 a0001c0001t0021g0040 a0001c0001t0050g0152 a0001c0001t0057g0067 a0001c0002t0002g0179 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0205 a0001c0002t0002g0210 a0001c0002t0002g0218 a0001c0002t0002g0230 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0003g0186 a0001c0002t0003g0213 a0001c0002t0003g0214 a0001c0002t0003g0222 a0001c0002t0003g0229 a0001c0002t0004g0183 a0001c0002t0004g0196 a0001c0002t0004g0197 a0001c0002t0004g0198 a0001c0002t0004g0212 a0001c0002t0004g0233 a0001c0002t0007g0199 a0001c0002t0007g0203 a0001c0002t0007g0219 a0001c0002t0007g0221 a0001c0002t0007g0226 a0001c0002t0011g0069 a0001c0002t0014g0227 a0001c0009t0004g0132 a0001c0009t0007g0135 a0001c0014t0012g0126 a0001c0018t0002g0157 a0001c0018t0002g0158 a0001c0020t0001g0176 a0002c0003t0001g0159 a0002c0032t0013g0211 a0003c0008t0006g0093 a0003c0024t0005g0174 a0004c0004t0016g0150 a0004c0006t0014g0216 a0004c0006t0014g0217 a0004c0006t0018g0178 a0004c0006t0023g0228 a0004c0006t0037g0207 a0004c0049t0040g0182 a0006c0012t0003g0013 a0006c0015t0002g0224 a0006c0015t0002g0225 a0013c0037t0041g0166 a0015c0048t0002g0215 a0017c0035t0044g0167 a0020c0043t0007g0149	61	133	0.4586	8	c.580 others(23): Show c.580+639_580+646dupTCCATCCA	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39686617	T T	TATATATG others(1): Show TATATATGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG01978.hp2 HG02976.hp2 others(1): Show HG00639.hp1 HG01978.hp2 HG02976.hp2 HG04184.hp1	a0001 a0008 a0016 a0001 a0008 a0016	a0001c0001 a0001c0002 a0008c0047 others(1): Show a0001c0001 a0001c0002 a0008c0047 a0016c0040	a0001c0001t0039 a0001c0002t0017 a0008c0047t0017 others(1): Show a0001c0001t0039 a0001c0002t0017 a0008c0047t0017 a0016c0040t0033	a0001c0001t0039g0121 a0001c0002t0017g0220 a0008c0047t0017g0202 others(1): Show a0001c0001t0039g0121 a0001c0002t0017g0220 a0008c0047t0017g0202 a0016c0040t0033g0078	4	234	0.0171	8	c.21 others(17): Show c.218_*219insGCATATAT	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	37/37	219	INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1S_chr1_201034512_201117426	201035818	C C	CTTTTTTT others(1): Show CTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00735.hp1 HG01106.hp1 others(7): Show HG00597.hp1 HG00735.hp1 HG01106.hp1 HG01884.hp1 HG02071.hp2 HG02886.hp2 HG04184.hp2 NA18984.hp2 NA19076.hp1 NA19079.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0001c0003 a0001c0014 others(3): Show a0001c0001 a0001c0003 a0001c0014 a0003c0005 a0003c0056 a0010c0039	a0001c0001t0001 a0001c0003t0001 a0001c0014t0001 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0014t0001 a0003c0005t0001 a0003c0056t0001 a0010c0039t0002	a0001c0001t0001g0155 a0001c0001t0001g0167 a0001c0001t0001g0247 others(7): Show a0001c0001t0001g0155 a0001c0001t0001g0167 a0001c0001t0001g0247 a0001c0003t0001g0144 a0001c0003t0001g0210 a0001c0003t0001g0212 a0001c0014t0001g0252 a0003c0005t0001g0110 a0003c0056t0001g0176 a0010c0039t0002g0297	10	19	0.5263	8	c.40 others(19): Show c.4012_*4013insAAAAAAAA	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding		3693		chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201036004	T T	TTGTGTGT others(1): Show TTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01123.hp2 HG01175.hp1 others(3): Show HG00639.hp1 HG01123.hp2 HG01175.hp1 HG01516.hp1 HG01517.hp2 HG01993.hp2	a0002 a0007 a0013 others(2): Show a0002 a0007 a0013 a0019 a0020	a0002c0012 a0007c0036 a0013c0034 others(2): Show a0002c0012 a0007c0036 a0013c0034 a0019c0097 a0020c0087	a0002c0012t0001 a0007c0036t0001 a0013c0034t0001 others(2): Show a0002c0012t0001 a0007c0036t0001 a0013c0034t0001 a0019c0097t0001 a0020c0087t0001	a0002c0012t0001g0194 a0007c0036t0001g0244 a0013c0034t0001g0002 others(2): Show a0002c0012t0001g0194 a0007c0036t0001g0244 a0013c0034t0001g0002 a0019c0097t0001g0036 a0020c0087t0001g0019	6	159	0.0377	8	c.38 others(19): Show c.3826_*3827insCACACACA	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding		3507		chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201056070	G G	GACACACA others(1): Show GACACACAC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01884.hp2 HG01928.hp2 others(19): Show HG01070.hp2 HG01884.hp2 HG01928.hp2 HG02145.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02970.hp1 HG02976.hp2 HG03139.hp2 HG03225.hp1 HG06807.hp1 NA19070.hp1 NA19240.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0009	a0001c0001 a0001c0002 a0001c0009 others(7): Show a0001c0001 a0001c0002 a0001c0009 a0002c0008 a0002c0012 a0002c0023 a0002c0047 a0002c0089 a0007c0081 a0009c0019	a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 others(8): Show a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 a0002c0008t0001 a0002c0012t0001 a0002c0023t0001 a0002c0023t0002 a0002c0047t0001 a0002c0089t0001 a0007c0081t0001 a0009c0019t0001	a0001c0001t0001g0128 a0001c0002t0001g0148 a0001c0009t0001g0001 others(17): Show a0001c0001t0001g0128 a0001c0002t0001g0148 a0001c0009t0001g0001 a0002c0008t0001g0038 a0002c0008t0001g0042 a0002c0008t0001g0218 a0002c0008t0001g0220 a0002c0008t0001g0221 a0002c0008t0001g0250 a0002c0008t0001g0274 a0002c0012t0001g0245 a0002c0012t0001g0261 a0002c0012t0001g0269 a0002c0023t0001g0227 a0002c0023t0002g0299 a0002c0047t0001g0187 a0002c0089t0001g0054 a0007c0081t0001g0023 a0009c0019t0001g0164 a0009c0019t0001g0188	22	200	0.1100	8	c.361 others(27): Show c.3610-1517_3610-1510dupGTGTGTGT	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	28/43			chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201095121	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00621.hp1 others(48): Show HG00280.hp1 HG00323.hp2 HG00621.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01168.hp1 HG01243.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01516.hp2 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG01981.hp1 HG01993.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02486.hp1 HG02630.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03486.hp1 HG03540.hp1 HG04184.hp1 HG06807.hp2 NA18906.hp1 NA18984.hp2 NA18986.hp1 NA19010.hp1 NA19065.hp1 NA19080.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0015 a0018 a0021 a0022 a0033 a0035	a0001c0001 a0001c0004 a0001c0009 others(20): Show a0001c0001 a0001c0004 a0001c0009 a0001c0011 a0001c0025 a0001c0026 a0001c0050 a0001c0063 a0002c0008 a0002c0012 a0002c0023 a0003c0015 a0003c0056 a0004c0043 a0005c0044 a0005c0054 a0005c0094 a0015c0027 a0018c0076 a0021c0096 a0022c0095 a0033c0040 a0035c0059	a0001c0001t0001 a0001c0004t0001 a0001c0009t0001 others(21): Show a0001c0001t0001 a0001c0004t0001 a0001c0009t0001 a0001c0011t0001 a0001c0025t0001 a0001c0026t0001 a0001c0050t0001 a0001c0063t0001 a0002c0008t0001 a0002c0012t0001 a0002c0023t0001 a0002c0023t0002 a0003c0015t0001 a0003c0056t0001 a0004c0043t0001 a0005c0044t0001 a0005c0054t0001 a0005c0094t0001 a0015c0027t0001 a0018c0076t0001 a0021c0096t0001 a0022c0095t0001 a0033c0040t0001 a0035c0059t0001	a0001c0001t0001g0163 a0001c0001t0001g0239 a0001c0004t0001g0018 others(48): Show a0001c0001t0001g0163 a0001c0001t0001g0239 a0001c0004t0001g0018 a0001c0004t0001g0025 a0001c0004t0001g0029 a0001c0004t0001g0059 a0001c0004t0001g0068 a0001c0004t0001g0071 a0001c0004t0001g0105 a0001c0004t0001g0108 a0001c0004t0001g0121 a0001c0004t0001g0154 a0001c0004t0001g0157 a0001c0004t0001g0158 a0001c0004t0001g0208 a0001c0004t0001g0224 a0001c0009t0001g0053 a0001c0009t0001g0262 a0001c0011t0001g0014 a0001c0011t0001g0015 a0001c0011t0001g0016 a0001c0011t0001g0084 a0001c0011t0001g0085 a0001c0025t0001g0076 a0001c0025t0001g0236 a0001c0026t0001g0027 a0001c0026t0001g0065 a0001c0050t0001g0233 a0001c0063t0001g0193 a0002c0008t0001g0013 a0002c0008t0001g0038 a0002c0008t0001g0041 a0002c0008t0001g0042 a0002c0008t0001g0250 a0002c0012t0001g0194 a0002c0012t0001g0245 a0002c0023t0001g0227 a0002c0023t0002g0299 a0003c0015t0001g0078 a0003c0056t0001g0176 a0004c0043t0001g0287 a0005c0044t0001g0285 a0005c0054t0001g0177 a0005c0094t0001g0263 a0015c0027t0001g0181 a0015c0027t0001g0182 a0018c0076t0001g0087 a0021c0096t0001g0037 a0022c0095t0001g0235 a0033c0040t0001g0008 a0035c0059t0001g0083	51	193	0.2642	8	c.259 others(25): Show c.259-1108_259-1101dupACACACAC	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	2/43			chr1	TogoVar
CACNA2D1_chr7_81941444_82448777	81955960	C C	CTATATAT others(1): Show CTATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02451.hp1 HG02027.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0044 a0001c0001t0004g0074 a0001c0001t0004g0044 a0001c0001t0004g0074	2	136	0.0147	8	c.315 others(27): Show c.3159+3307_3159+3314dupTATATATA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	38/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82022222	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01192.hp1 HG01891.hp2 others(3): Show HG00735.hp1 HG01192.hp1 HG01891.hp2 HG02630.hp1 HG03239.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0009 a0001c0001t0001g0058 a0001c0001t0003g0051 others(3): Show a0001c0001t0001g0009 a0001c0001t0001g0058 a0001c0001t0003g0051 a0001c0001t0005g0096 a0001c0001t0005g0111 a0001c0001t0006g0098	6	85	0.0706	8	c.114 others(27): Show c.1144-7751_1144-7744dupGTGTGTGT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	12/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82103670	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02109.hp2 HG02572.hp1 others(1): Show HG01123.hp1 HG02109.hp2 HG02572.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0007t0003	a0001c0001t0001g0049 a0001c0001t0003g0086 a0001c0001t0009g0065 others(1): Show a0001c0001t0001g0049 a0001c0001t0003g0086 a0001c0001t0009g0065 a0001c0007t0003g0075	4	93	0.0430	8	c.526 others(27): Show c.526+13373_526+13374insATATATAT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	6/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82111428	G G	GTGTGTAT others(1): Show GTGTGTATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02451.hp1 others(3): Show HG01884.hp2 HG01891.hp2 HG02451.hp1 HG02717.hp2 HG02922.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010	a0001c0001t0003g0062 a0001c0001t0003g0088 a0001c0001t0004g0074 others(3): Show a0001c0001t0003g0062 a0001c0001t0003g0088 a0001c0001t0004g0074 a0001c0001t0004g0079 a0001c0001t0006g0098 a0001c0001t0010g0089	6	115	0.0522	8	c.526 others(25): Show c.526+5615_526+5616insTATACACA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	6/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82137707	T T	TAAAAAAA others(1): Show TAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01258.hp2 HG02717.hp1 others(3): Show HG00642.hp1 HG01258.hp2 HG02717.hp1 HG02809.hp2 HG03471.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0020 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0020 a0001c0002t0001	a0001c0001t0003g0016 a0001c0001t0003g0034 a0001c0001t0003g0067 others(3): Show a0001c0001t0003g0016 a0001c0001t0003g0034 a0001c0001t0003g0067 a0001c0001t0004g0046 a0001c0001t0020g0115 a0001c0002t0001g0024	6	45	0.1333	8	c.355 others(25): Show c.355-1039_355-1032dupTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82186189	A A	AAGGGAGG others(1): Show AAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp2 HG02717.hp1 others(13): Show HG02451.hp2 HG02572.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp2 HG03471.hp1 NA18522.hp1 NA18906.hp2 NA19043.hp1 NA19066.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002	a0001c0001t0002g0129 a0001c0001t0003g0013 a0001c0001t0003g0016 others(13): Show a0001c0001t0002g0129 a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0067 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0005g0136 a0001c0001t0006g0124 a0001c0001t0007g0020 a0001c0001t0007g0084 a0001c0001t0011g0028 a0001c0002t0001g0014 a0001c0002t0001g0017 a0001c0002t0001g0024 a0001c0003t0001g0026 a0001c0003t0002g0137	16	113	0.1416	8	c.295 others(27): Show c.295-15588_295-15581dupCCCTCCCT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82186230	A A	AGAAGGAA others(1): Show AGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02148.hp1 HG02922.hp2 others(3): Show HG01496.hp1 HG02148.hp1 HG02922.hp2 NA18981.hp2 NA19060.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002	a0001c0001t0003g0051 a0001c0001t0003g0088 a0001c0001t0004g0050 others(3): Show a0001c0001t0003g0051 a0001c0001t0003g0088 a0001c0001t0004g0050 a0001c0002t0001g0032 a0001c0002t0001g0045 a0001c0002t0002g0121	6	131	0.0458	8	c.295 others(27): Show c.295-15629_295-15622dupCTTCCTTC	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82186239	G G	GAAGGAAG others(1): Show GAAGGAAGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02809.hp2 HG02818.hp1 others(5): Show HG00735.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG03130.hp1 HG03195.hp1 HG03471.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 others(3): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001	a0001c0001t0003g0016 a0001c0001t0003g0067 a0001c0001t0007g0020 others(5): Show a0001c0001t0003g0016 a0001c0001t0003g0067 a0001c0001t0007g0020 a0001c0001t0007g0084 a0001c0001t0011g0028 a0001c0002t0001g0014 a0001c0002t0002g0128 a0001c0003t0001g0026	8	142	0.0563	8	c.295 others(27): Show c.295-15631_295-15630insTCTTCCTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar

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