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
CAB39L_chr13_49303650_49449064	49442787	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01257.hp1 HG02015.hp1 others(22): Show HG01256.hp2 HG01257.hp1 HG02015.hp1 HG02083.hp1 HG02109.hp2 HG02145.hp2 HG02451.hp1 HG02602.hp2 HG02622.hp1 HG02698.hp1 HG02886.hp1 HG03041.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03942.hp1 HG04204.hp1 NA18939.hp2 NA18953.hp1 NA18953.hp2 NA18960.hp2 NA19012.hp1 NA19030.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0013	a0001c0001t0001g0001 a0001c0001t0001g0094 a0001c0001t0001g0095 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0273 a0001c0001t0002g0263 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0317 a0001c0001t0004g0268 a0001c0001t0004g0271 a0001c0001t0006g0260 a0001c0001t0012g0264 a0001c0001t0015g0270 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0259 a0001c0002t0001g0267 a0001c0002t0001g0269 a0001c0002t0001g0276 a0001c0002t0002g0275 a0001c0002t0013g0266	25	324	0.0772	-10	c.-24 others(29): Show c.-246+1189_-246+1198delTTTTTTTTTT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	1/10			chr13	TogoVar
CAB39_chr2_230707842_230826075	230727363	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	342	0.0029	-10	c.-44 others(29): Show c.-44+14160_-44+14169delGTGTGTGTGT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748825	AAAAAAAA others(3): Show AAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0028 a0001c0001t0028g0028	1	342	0.0029	-10	c.-43 others(29): Show c.-43-11132_-43-11123delAAAAAATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748829	AAAATATA others(3): Show AAAATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0027 a0001c0001t0042g0027	1	342	0.0029	-10	c.-43 others(29): Show c.-43-11128_-43-11119delAATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230783442	AGTTTTGT others(3): Show AGTTTTGTTTT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0029 a0001c0001t0006g0029	1	342	0.0029	-10	c.115 others(27): Show c.115-7400_115-7391delTGTTTTGTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230804389	AATAGATA others(3): Show AATAGATAAAT	A A	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	342	0.0029	-10	c.567 others(27): Show c.567+5493_567+5502delATAGATAAAT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	5/8			chr2	TogoVar
CAB39_chr2_230707842_230826075	230808051	TTTTTCTT others(3): Show TTTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19240.hp2 HG02976.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0041 a0001c0001t0011 a0001c0001t0041	a0001c0001t0011g0309 a0001c0001t0041g0308 a0001c0001t0011g0309 a0001c0001t0041g0308	2	342	0.0059	-10	c.568 others(27): Show c.568-2192_568-2183delCTTTTCTTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230825690	CTTTCTTT others(3): Show CTTTCTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	342	0.0029	-10	c.69 others(21): Show c.6987_*6996delTTTCTTTTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding		4616		chr2	TogoVar
CABCOCO1_chr10_61657929_61771766	61703227	GACACACA others(3): Show GACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0270 a0001c0001t0003g0270	1	374	0.0027	-10	c.552 others(29): Show c.552+12639_552+12648delACACACACAC	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABCOCO1_chr10_61657929_61771766	61710253	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01106.hp1 others(33): Show HG00639.hp1 HG00741.hp1 HG01106.hp1 HG01167.hp1 HG01884.hp1 HG01943.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02486.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02970.hp2 HG03041.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp2 HG03491.hp2 HG03540.hp1 HG03579.hp2 HG04199.hp1 HG04199.hp2 NA18949.hp1 NA18962.hp2 NA19003.hp1 NA19030.hp2 NA19078.hp1 NA19081.hp2 NA20905.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0003t0002 a0001c0008t0001 a0004c0010t0008	a0001c0001t0001g0024 a0001c0001t0001g0093 a0001c0001t0001g0094 others(33): Show a0001c0001t0001g0024 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0119 a0001c0001t0001g0222 a0001c0001t0001g0275 a0001c0001t0001g0299 a0001c0001t0002g0162 a0001c0001t0002g0276 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0007g0266 a0001c0001t0007g0272 a0001c0002t0001g0115 a0001c0002t0002g0131 a0001c0002t0002g0134 a0001c0002t0002g0144 a0001c0002t0009g0139 a0001c0003t0002g0325 a0001c0003t0002g0326 a0001c0003t0002g0338 a0001c0008t0001g0248 a0004c0010t0008g0265	36	374	0.0963	-10	c.552 others(29): Show c.552+19665_552+19674delGTGTGTGTGT	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABIN1_chr22_24006304_24183628	24011076	AACACACA others(3): Show AACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02896.hp2 HG03098.hp2 HG02055.hp1 HG02896.hp2 HG03098.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0234 a0001c0007t0002g0236 a0001c0007t0002g0238 a0001c0007t0002g0234 a0001c0007t0002g0236 a0001c0007t0002g0238	3	268	0.0112	-10	c.-36 others(19): Show c.-365_-356delACACACACAC	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		227		chr22	TogoVar
CABIN1_chr22_24006304_24183628	24011141	GCGCGCAC others(3): Show GCGCGCACACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG03139.hp1 HG03453.hp1 HG01884.hp2 HG03139.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246	3	268	0.0112	-10	c.-30 others(19): Show c.-300_-291delCGCGCACACA	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		162		chr22	TogoVar
CABIN1_chr22_24006304_24183628	24042818	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02622.hp2 HG02717.hp1 others(3): Show HG01243.hp2 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG03195.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0005 a0001c0001 a0001c0007 a0003c0005	a0001c0001t0001 a0001c0007t0002 a0003c0005t0001 a0001c0001t0001 a0001c0007t0002 a0003c0005t0001	a0001c0001t0001g0006 a0001c0007t0002g0237 a0003c0005t0001g0250 others(3): Show a0001c0001t0001g0006 a0001c0007t0002g0237 a0003c0005t0001g0250 a0003c0005t0001g0251 a0003c0005t0001g0252 a0003c0005t0001g0253	6	268	0.0224	-10	c.346 others(23): Show c.346-36_346-27delGTGTGTGTGT	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABIN1_chr22_24006304_24183628	24062346	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA19083.hp2 NA18977.hp1 NA19083.hp2	a0002 a0025 a0002 a0025	a0002c0002 a0025c0022 a0002c0002 a0025c0022	a0002c0002t0001 a0025c0022t0001 a0002c0002t0001 a0025c0022t0001	a0002c0002t0001g0167 a0025c0022t0001g0176 a0002c0002t0001g0167 a0025c0022t0001g0176	2	268	0.0075	-10	c.169 others(27): Show c.1696+338_1696+347delTTTTTTTTTT	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	13/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABIN1_chr22_24006304_24183628	24123256	TTGCATTC others(3): Show TTGCATTCCCA	T T	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03834.hp2 HG04184.hp2 others(2): Show HG03688.hp2 HG03834.hp2 HG04184.hp2 NA18942.hp1 NA18959.hp1	a0001 a0015 a0016 a0001 a0015 a0016	a0001c0012 a0015c0033 a0016c0032 a0001c0012 a0015c0033 a0016c0032	a0001c0012t0001 a0001c0012t0008 a0015c0033t0004 others(1): Show a0001c0012t0001 a0001c0012t0008 a0015c0033t0004 a0016c0032t0001	a0001c0012t0001g0262 a0001c0012t0001g0264 a0001c0012t0008g0247 others(2): Show a0001c0012t0001g0262 a0001c0012t0001g0264 a0001c0012t0008g0247 a0015c0033t0004g0130 a0016c0032t0001g0263	5	268	0.0187	-10	c.463 others(29): Show c.4632+3559_4632+3568delTGCATTCCCA	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	28/36			chr22	TogoVar
CABLES1_chr18_23130485_23265470	23174821	CATATATA others(3): Show CATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp1 HG01884.hp2 others(8): Show HG00597.hp1 HG00673.hp1 HG01884.hp2 HG02040.hp1 HG02572.hp2 HG03209.hp1 HG03225.hp2 HG03579.hp2 NA18952.hp2 NA18992.hp1 NA19063.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 a0001c0001t0042 a0002c0002t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0261 others(8): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0261 a0001c0001t0003g0183 a0001c0001t0003g0262 a0001c0001t0010g0168 a0001c0001t0010g0169 a0001c0001t0010g0171 a0001c0001t0013g0134 a0001c0001t0042g0263 a0002c0002t0001g0180	11	278	0.0396	-10	c.846 others(29): Show c.846-13986_846-13977delATATATATAT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23181496	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0102 a0002c0002t0002g0102	1	278	0.0036	-10	c.846 others(27): Show c.846-7320_846-7311delAAAAAAAAAA	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23248512	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0080 a0001c0001t0055g0080	1	278	0.0036	-10	c.144 others(29): Show c.1447-4431_1447-4422delTTTTTTTTTT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABP1_chr12_120635626_120672324	120653510	AGTTTTGT others(3): Show AGTTTTGTTTT	A A	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18990.hp2 HG02027.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0237 a0001c0001t0001g0240	2	418	0.0048	-10	c.655 others(27): Show c.655-6352_655-6343delGTTTTGTTTT	CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
CABP4_chr11_67450354_67466752	67465281	GAAAGGAG others(3): Show GAAAGGAGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	-10	c.66 others(21): Show c.6623_*6632delAAAGGAGAGA	CABP4	ENSG00000175544.14	transcript	ENST00000325656.7	protein_coding		3530		chr11	TogoVar
CABP5_chr19_48024383_48049079	48037259	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0145 a0001c0001t0003g0144 a0001c0001t0001g0145 a0001c0001t0003g0144	2	376	0.0053	-10	c.348 others(27): Show c.348+1939_348+1948delAAAAAAAAAA	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	4/5			chr19	TogoVar
CABP5_chr19_48024383_48049079	48039703	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0030 a0001c0001t0038g0030	2	376	0.0053	-10	c.239 others(25): Show c.239-396_239-387delAAAAAAAAAA	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	3/5			chr19	TogoVar
CABP5_chr19_48024383_48049079	48040863	AGAAACAA others(3): Show AGAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG01070.hp2 others(51): Show HG00544.hp2 HG00609.hp1 HG01070.hp2 HG01175.hp1 HG01346.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG02015.hp2 HG02027.hp2 HG02145.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02683.hp1 HG02698.hp1 HG02735.hp2 HG02886.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03209.hp2 HG03516.hp1 HG03942.hp2 HG04199.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18939.hp1 NA18943.hp2 NA18946.hp1 NA18955.hp1 NA18964.hp1 NA18965.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18982.hp2 NA18986.hp1 NA18993.hp2 NA18994.hp2 NA18999.hp2 NA19005.hp1 NA19009.hp2 NA19054.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19089.hp2	a0002 a0007 a0008 others(1): Show a0002 a0007 a0008 a0009	a0002c0003 a0002c0006 a0007c0009 others(2): Show a0002c0003 a0002c0006 a0007c0009 a0008c0014 a0009c0013	a0002c0003t0006 a0002c0003t0008 a0002c0003t0013 others(19): Show a0002c0003t0006 a0002c0003t0008 a0002c0003t0013 a0002c0003t0016 a0002c0003t0024 a0002c0003t0025 a0002c0003t0026 a0002c0003t0027 a0002c0003t0051 a0002c0003t0054 a0002c0003t0056 a0002c0006t0025 a0002c0006t0027 a0002c0006t0050 a0002c0006t0052 a0002c0006t0053 a0002c0006t0055 a0007c0009t0019 a0007c0009t0022 a0007c0009t0043 a0008c0014t0066 a0009c0013t0001	a0002c0003t0006g0010 a0002c0003t0006g0017 a0002c0003t0006g0048 others(46): Show a0002c0003t0006g0010 a0002c0003t0006g0017 a0002c0003t0006g0048 a0002c0003t0006g0052 a0002c0003t0006g0053 a0002c0003t0006g0060 a0002c0003t0006g0061 a0002c0003t0006g0070 a0002c0003t0006g0071 a0002c0003t0006g0072 a0002c0003t0006g0073 a0002c0003t0006g0075 a0002c0003t0006g0080 a0002c0003t0008g0019 a0002c0003t0008g0047 a0002c0003t0008g0051 a0002c0003t0008g0057 a0002c0003t0008g0058 a0002c0003t0008g0059 a0002c0003t0008g0074 a0002c0003t0008g0079 a0002c0003t0013g0018 a0002c0003t0013g0054 a0002c0003t0013g0055 a0002c0003t0013g0056 a0002c0003t0016g0050 a0002c0003t0016g0069 a0002c0003t0016g0077 a0002c0003t0016g0181 a0002c0003t0024g0062 a0002c0003t0024g0064 a0002c0003t0025g0065 a0002c0003t0026g0063 a0002c0003t0026g0066 a0002c0003t0027g0067 a0002c0003t0051g0049 a0002c0003t0054g0081 a0002c0003t0056g0076 a0002c0006t0025g0188 a0002c0006t0027g0192 a0002c0006t0050g0189 a0002c0006t0052g0190 a0002c0006t0053g0191 a0002c0006t0055g0193 a0007c0009t0019g0042 a0007c0009t0022g0083 a0007c0009t0043g0082 a0008c0014t0066g0264 a0009c0013t0001g0068	54	376	0.1436	-10	c.95- others(23): Show c.95-125_95-116delGTTTTGTTTC	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	2/5			chr19	TogoVar
CABYR_chr18_24134062_24166600	24134257	GTTTTTTG others(3): Show GTTTTTTGTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02572.hp1 others(7): Show HG02055.hp1 HG02451.hp1 HG02572.hp1 HG02622.hp2 HG02647.hp1 HG02896.hp2 HG03195.hp1 HG03225.hp2 HG03579.hp1 NA19043.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0007 others(1): Show a0001c0001 a0001c0002 a0004c0007 a0004c0009	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0004c0007t0001 a0004c0009t0001	a0001c0001t0001g0010 a0001c0001t0001g0111 a0001c0001t0001g0115 others(6): Show a0001c0001t0001g0010 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0151 a0001c0002t0001g0176 a0001c0002t0003g0131 a0004c0007t0001g0150 a0004c0009t0001g0149	10	408	0.0245	-10	c.-48 others(21): Show c.-4885_-4876delTTTTTTGTTT	CABYR	ENSG00000154040.21	transcript	ENST00000399496.8	protein_coding		4804		chr18	TogoVar
CABYR_chr18_24134062_24166600	24154102	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp1 HG02622.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	2	408	0.0049	-10	c.200 others(27): Show c.200-1582_200-1573delAAAAAAAAAA	CABYR	ENSG00000154040.21	transcript	ENST00000399496.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
CACFD1_chr9_133454978_133475848	133468946	CCTGTGAC others(3): Show CCTGTGACCTG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0003 a0001c0001t0066g0003	1	420	0.0024	-10	c.30 others(19): Show c.304_*313delCTGTGACCTG	CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding	5/5	304	INFO_REALIGN_3_PRIME	chr9	TogoVar
CACFD1_chr9_133454978_133475848	133470189	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(107): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02738.hp1 HG02895.hp1 HG02896.hp1 HG03041.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18942.hp1 NA18945.hp1 NA18947.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18957.hp2 NA18965.hp2 NA18972.hp1 NA18988.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp2 NA18995.hp1 NA18997.hp1 NA19001.hp2 NA19058.hp1 NA19075.hp1 NA19077.hp1 NA19081.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0013 others(2): Show a0001c0001 a0001c0003 a0001c0013 a0001c0017 a0002c0005	a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 others(13): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0030 a0001c0001t0032 a0001c0001t0035 a0001c0001t0041 a0001c0001t0049 a0001c0003t0010 a0001c0013t0002 a0001c0017t0002 a0002c0005t0002	a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 others(51): Show a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0115 a0001c0001t0007g0005 a0001c0001t0007g0014 a0001c0001t0007g0050 a0001c0001t0007g0051 a0001c0001t0007g0052 a0001c0001t0007g0064 a0001c0001t0007g0066 a0001c0001t0010g0001 a0001c0001t0010g0011 a0001c0001t0010g0015 a0001c0001t0010g0029 a0001c0001t0014g0010 a0001c0001t0014g0089 a0001c0001t0020g0010 a0001c0001t0023g0008 a0001c0001t0023g0058 a0001c0001t0024g0004 a0001c0001t0030g0007 a0001c0001t0032g0006 a0001c0001t0035g0006 a0001c0001t0041g0075 a0001c0001t0049g0077 a0001c0003t0010g0012 a0001c0013t0002g0084 a0001c0017t0002g0006 a0002c0005t0002g0007	110	420	0.2619	-10	c.15 others(21): Show c.1564_*1573delGTGTGTGTGT	CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding	5/5	1564	INFO_REALIGN_3_PRIME	chr9	TogoVar
CACHD1_chr1_64465129_64698053	64466445	TATATATA others(3): Show TATATATACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18962.hp2 NA19002.hp1 others(1): Show NA18955.hp2 NA18962.hp2 NA19002.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0058 a0001c0001t0006g0065 a0001c0001t0006g0075 others(1): Show a0001c0001t0001g0058 a0001c0001t0006g0065 a0001c0001t0006g0075 a0001c0001t0006g0133	4	166	0.0241	-10	c.-42 others(21): Show c.-4299_-4290delATATATACAC	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding		3683		chr1	TogoVar
CACHD1_chr1_64465129_64698053	64486359	CACACACA others(3): Show CACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	166	0.0060	-10	c.198 others(29): Show c.198+15427_198+15436delTACACACACA	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64500732	AAAAGAGA others(3): Show AAAAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA19043.hp2 HG02895.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0157 a0001c0001t0001g0148 a0001c0001t0001g0157	2	166	0.0121	-10	c.198 others(29): Show c.198+29792_198+29801delAAGAGAGAGA	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64601649	CGTGTTCT others(3): Show CGTGTTCTTAT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	166	0.0060	-10	c.411 others(27): Show c.411-1141_411-1132delCTTATGTGTT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64640692	GACACACA others(3): Show GACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp2 HG02257.hp1 others(11): Show HG00735.hp2 HG01109.hp2 HG02257.hp1 HG02257.hp2 HG02615.hp1 HG02630.hp2 HG02895.hp2 HG02897.hp2 HG03139.hp2 HG03195.hp1 HG03516.hp2 HG03540.hp1 NA19030.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0017 a0001c0002t0005 a0001c0007t0007	a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0073 others(11): Show a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0073 a0001c0001t0001g0113 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0002g0015 a0001c0001t0003g0099 a0001c0001t0004g0108 a0001c0001t0007g0131 a0001c0001t0011g0029 a0001c0001t0017g0044 a0001c0002t0005g0016 a0001c0007t0007g0123	14	166	0.0843	-10	c.100 others(29): Show c.1007-1097_1007-1088delACACACACAC	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64681541	GTTTTTTT others(3): Show GTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00741.hp2 others(12): Show HG00639.hp1 HG00642.hp1 HG00741.hp2 HG01099.hp1 HG01109.hp1 HG01175.hp1 HG01255.hp2 HG01261.hp1 HG01515.hp1 HG02135.hp2 HG02523.hp2 HG02895.hp1 NA18948.hp1 NA19056.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004	a0001c0001t0001g0059 a0001c0001t0001g0097 a0001c0001t0006g0070 others(12): Show a0001c0001t0001g0059 a0001c0001t0001g0097 a0001c0001t0006g0070 a0001c0003t0001g0034 a0001c0003t0001g0051 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0061 a0001c0003t0001g0084 a0001c0003t0002g0124 a0001c0003t0002g0139 a0001c0003t0002g0152 a0001c0003t0004g0117 a0001c0003t0004g0146 a0001c0003t0004g0147	15	166	0.0904	-10	c.348 others(27): Show c.3484+220_3484+229delTTTTTTTTTT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1A_chr19_13201442_13511479	13201922	CGGCAGCT others(3): Show CGGCAGCTGAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG02056.hp1 HG03942.hp2 others(3): Show HG00438.hp1 HG02056.hp1 HG03942.hp2 NA18975.hp1 NA19065.hp2 NA19084.hp2	a0003 a0013 a0037 others(1): Show a0003 a0013 a0037 a0044	a0003c0052 a0003c0053 a0003c0121 others(3): Show a0003c0052 a0003c0053 a0003c0121 a0013c0014 a0037c0067 a0044c0124	a0003c0052t0043 a0003c0053t0044 a0003c0121t0045 others(3): Show a0003c0052t0043 a0003c0053t0044 a0003c0121t0045 a0013c0014t0046 a0037c0067t0014 a0044c0124t0026	a0003c0052t0043g0060 a0003c0053t0044g0071 a0003c0121t0045g0111 others(3): Show a0003c0052t0043g0060 a0003c0053t0044g0071 a0003c0121t0045g0111 a0013c0014t0046g0176 a0037c0067t0014g0040 a0044c0124t0026g0131	6	218	0.0275	-10	c.53 others(21): Show c.5381_*5390delTTCAGCTGCC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		4519		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13213672	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00544.hp2 others(58): Show HG00140.hp2 HG00423.hp2 HG00544.hp2 HG00609.hp2 HG00735.hp2 HG01099.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01496.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02129.hp2 HG02165.hp2 HG02273.hp2 HG02280.hp2 HG02602.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG03225.hp1 HG03453.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18944.hp1 NA18948.hp2 NA18955.hp1 NA18964.hp2 NA18968.hp2 NA18973.hp2 NA18977.hp2 NA18980.hp2 NA18998.hp2 NA19012.hp2 NA19065.hp1 NA19079.hp2 NA19084.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 others(20): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0013 a0014 a0017 a0019 a0025 a0028 a0029 a0031 a0035 a0036 a0042 a0046 a0049	a0001c0003 a0001c0005 a0001c0006 others(43): Show a0001c0003 a0001c0005 a0001c0006 a0001c0017 a0001c0025 a0001c0036 a0001c0101 a0002c0002 a0002c0004 a0002c0010 a0002c0018 a0002c0069 a0002c0086 a0002c0106 a0003c0013 a0003c0044 a0003c0077 a0003c0096 a0003c0111 a0005c0023 a0005c0104 a0006c0009 a0006c0075 a0006c0123 a0007c0008 a0007c0012 a0008c0011 a0008c0027 a0008c0126 a0009c0051 a0011c0022 a0011c0063 a0012c0074 a0013c0014 a0014c0120 a0017c0078 a0019c0094 a0025c0097 a0028c0050 a0029c0065 a0031c0034 a0035c0099 a0036c0093 a0042c0060 a0046c0068 a0049c0059	a0001c0003t0001 a0001c0005t0005 a0001c0005t0047 others(51): Show a0001c0003t0001 a0001c0005t0005 a0001c0005t0047 a0001c0006t0008 a0001c0006t0009 a0001c0017t0001 a0001c0025t0001 a0001c0036t0007 a0001c0101t0012 a0002c0002t0002 a0002c0002t0003 a0002c0004t0002 a0002c0004t0003 a0002c0010t0002 a0002c0010t0003 a0002c0018t0002 a0002c0018t0003 a0002c0069t0007 a0002c0086t0003 a0002c0106t0040 a0003c0013t0007 a0003c0044t0003 a0003c0077t0039 a0003c0096t0018 a0003c0111t0012 a0005c0023t0006 a0005c0104t0003 a0006c0009t0003 a0006c0075t0003 a0006c0123t0002 a0007c0008t0002 a0007c0012t0003 a0007c0012t0006 a0008c0011t0003 a0008c0027t0002 a0008c0027t0003 a0008c0126t0041 a0009c0051t0003 a0011c0022t0003 a0011c0063t0017 a0012c0074t0019 a0013c0014t0046 a0014c0120t0004 a0017c0078t0019 a0019c0094t0016 a0025c0097t0003 a0028c0050t0002 a0029c0065t0002 a0031c0034t0028 a0035c0099t0005 a0036c0093t0005 a0042c0060t0002 a0046c0068t0003 a0049c0059t0003	a0001c0003t0001g0097 a0001c0005t0005g0028 a0001c0005t0047g0024 others(58): Show a0001c0003t0001g0097 a0001c0005t0005g0028 a0001c0005t0047g0024 a0001c0006t0008g0134 a0001c0006t0008g0148 a0001c0006t0009g0189 a0001c0017t0001g0037 a0001c0025t0001g0144 a0001c0036t0007g0205 a0001c0101t0012g0029 a0002c0002t0002g0011 a0002c0002t0002g0020 a0002c0002t0002g0095 a0002c0002t0003g0181 a0002c0004t0002g0053 a0002c0004t0002g0126 a0002c0004t0003g0177 a0002c0010t0002g0054 a0002c0010t0003g0023 a0002c0018t0002g0185 a0002c0018t0003g0009 a0002c0069t0007g0102 a0002c0086t0003g0035 a0002c0106t0040g0156 a0003c0013t0007g0041 a0003c0044t0003g0116 a0003c0077t0039g0022 a0003c0096t0018g0208 a0003c0111t0012g0211 a0005c0023t0006g0117 a0005c0104t0003g0122 a0006c0009t0003g0031 a0006c0009t0003g0069 a0006c0075t0003g0190 a0006c0123t0002g0052 a0007c0008t0002g0065 a0007c0008t0002g0099 a0007c0012t0003g0091 a0007c0012t0006g0120 a0008c0011t0003g0070 a0008c0027t0002g0197 a0008c0027t0003g0169 a0008c0126t0041g0042 a0009c0051t0003g0186 a0011c0022t0003g0164 a0011c0022t0003g0180 a0011c0063t0017g0055 a0012c0074t0019g0152 a0013c0014t0046g0176 a0014c0120t0004g0066 a0017c0078t0019g0151 a0019c0094t0016g0203 a0025c0097t0003g0183 a0028c0050t0002g0184 a0029c0065t0002g0172 a0031c0034t0028g0173 a0035c0099t0005g0059 a0036c0093t0005g0027 a0042c0060t0002g0124 a0046c0068t0003g0061 a0049c0059t0003g0106	61	218	0.2798	-10	c.594 others(27): Show c.5940+551_5940+560delAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	40/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13227903	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0101 a0001c0101	a0001c0101t0012 a0001c0101t0012	a0001c0101t0012g0029 a0001c0101t0012g0029	1	218	0.0046	-10	c.552 others(27): Show c.5529-386_5529-377delAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	36/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13276697	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01496.hp1 HG02280.hp1 others(7): Show HG00423.hp2 HG01496.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG03195.hp2 HG03225.hp2 HG03831.hp1 NA18975.hp1 NA20300.hp2	a0001 a0007 a0011 others(4): Show a0001 a0007 a0011 a0016 a0018 a0029 a0044	a0001c0015 a0007c0008 a0011c0063 others(5): Show a0001c0015 a0007c0008 a0011c0063 a0016c0038 a0016c0132 a0018c0016 a0029c0065 a0044c0124	a0001c0015t0004 a0007c0008t0002 a0011c0063t0017 others(5): Show a0001c0015t0004 a0007c0008t0002 a0011c0063t0017 a0016c0038t0001 a0016c0132t0001 a0018c0016t0014 a0029c0065t0002 a0044c0124t0026	a0001c0015t0004g0047 a0001c0015t0004g0074 a0007c0008t0002g0065 others(7): Show a0001c0015t0004g0047 a0001c0015t0004g0074 a0007c0008t0002g0065 a0011c0063t0017g0055 a0016c0038t0001g0008 a0016c0132t0001g0007 a0018c0016t0014g0212 a0018c0016t0014g0216 a0029c0065t0002g0172 a0044c0124t0026g0131	10	218	0.0459	-10	c.388 others(27): Show c.3882+362_3882+371delAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	23/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13290384	GTGTGTGT others(3): Show GTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00735.hp1 HG01081.hp2 others(16): Show HG00544.hp2 HG00735.hp1 HG01081.hp2 HG01256.hp1 HG01516.hp1 HG02056.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02895.hp1 HG03195.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 NA18747.hp2 NA18968.hp2 NA18998.hp2 NA19000.hp2	a0001 a0002 a0006 others(8): Show a0001 a0002 a0006 a0007 a0010 a0012 a0013 a0016 a0018 a0037 a0038	a0001c0019 a0002c0002 a0002c0004 others(11): Show a0001c0019 a0002c0002 a0002c0004 a0006c0075 a0007c0008 a0007c0012 a0010c0024 a0012c0074 a0013c0014 a0016c0038 a0016c0132 a0018c0016 a0037c0067 a0038c0066	a0001c0019t0001 a0002c0002t0002 a0002c0004t0002 others(13): Show a0001c0019t0001 a0002c0002t0002 a0002c0004t0002 a0006c0075t0003 a0007c0008t0002 a0007c0012t0003 a0007c0012t0006 a0010c0024t0001 a0010c0024t0011 a0012c0074t0019 a0013c0014t0046 a0016c0038t0001 a0016c0132t0001 a0018c0016t0014 a0037c0067t0014 a0038c0066t0001	a0001c0019t0001g0188 a0002c0002t0002g0011 a0002c0002t0002g0095 others(16): Show a0001c0019t0001g0188 a0002c0002t0002g0011 a0002c0002t0002g0095 a0002c0004t0002g0053 a0006c0075t0003g0190 a0007c0008t0002g0033 a0007c0012t0003g0015 a0007c0012t0003g0091 a0007c0012t0006g0120 a0010c0024t0001g0093 a0010c0024t0011g0038 a0012c0074t0019g0152 a0013c0014t0046g0176 a0016c0038t0001g0008 a0016c0132t0001g0007 a0018c0016t0014g0212 a0018c0016t0014g0216 a0037c0067t0014g0040 a0038c0066t0001g0171	19	218	0.0872	-10	c.309 others(29): Show c.3090-3428_3090-3419delGACACACACA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	19/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13290721	GTATATGT others(3): Show GTATATGTGTA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0015 a0015	a0015c0088 a0015c0088	a0015c0088t0001 a0015c0088t0001	a0015c0088t0001g0207 a0015c0088t0001g0207	1	218	0.0046	-10	c.309 others(29): Show c.3090-3765_3090-3756delTACACATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	19/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310454	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02055.hp2 NA18939.hp2 others(2): Show HG00544.hp2 HG02055.hp2 NA18939.hp2 NA18977.hp1 NA19079.hp2	a0002 a0008 a0030 others(2): Show a0002 a0008 a0030 a0039 a0045	a0002c0004 a0008c0027 a0030c0117 others(2): Show a0002c0004 a0008c0027 a0030c0117 a0039c0083 a0045c0061	a0002c0004t0002 a0008c0027t0002 a0030c0117t0012 others(2): Show a0002c0004t0002 a0008c0027t0002 a0030c0117t0012 a0039c0083t0005 a0045c0061t0002	a0002c0004t0002g0053 a0008c0027t0002g0197 a0030c0117t0012g0206 others(2): Show a0002c0004t0002g0053 a0008c0027t0002g0197 a0030c0117t0012g0206 a0039c0083t0005g0168 a0045c0061t0002g0196	5	218	0.0229	-10	c.166 others(29): Show c.1669-1936_1669-1927delTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310483	AAAAAAAA others(3): Show AAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0015 a0015	a0015c0088 a0015c0088	a0015c0088t0001 a0015c0088t0001	a0015c0088t0001g0207 a0015c0088t0001g0207	1	218	0.0046	-10	c.166 others(29): Show c.1669-1965_1669-1956delATATTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13336594	GGAGAGAG others(3): Show GGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02615.hp2 HG03225.hp2 HG02280.hp1 HG02615.hp2 HG03225.hp2	a0001 a0009 a0016 a0001 a0009 a0016	a0001c0015 a0009c0082 a0016c0038 a0001c0015 a0009c0082 a0016c0038	a0001c0015t0004 a0009c0082t0014 a0016c0038t0001 a0001c0015t0004 a0009c0082t0014 a0016c0038t0001	a0001c0015t0004g0074 a0009c0082t0014g0159 a0016c0038t0001g0008 a0001c0015t0004g0074 a0009c0082t0014g0159 a0016c0038t0001g0008	3	218	0.0138	-10	c.979 others(25): Show c.979-695_979-686delTCTCTCTCTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346616	TTATATAT others(3): Show TTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp1 HG02895.hp2 others(2): Show HG02280.hp2 HG02559.hp1 HG02895.hp2 NA18906.hp2 NA18973.hp2	a0001 a0002 a0017 a0001 a0002 a0017	a0001c0005 a0001c0101 a0002c0004 others(1): Show a0001c0005 a0001c0101 a0002c0004 a0017c0078	a0001c0005t0005 a0001c0005t0010 a0001c0101t0012 others(2): Show a0001c0005t0005 a0001c0005t0010 a0001c0101t0012 a0002c0004t0003 a0017c0078t0019	a0001c0005t0005g0028 a0001c0005t0010g0202 a0001c0101t0012g0029 others(2): Show a0001c0005t0005g0028 a0001c0005t0010g0202 a0001c0101t0012g0029 a0002c0004t0003g0177 a0017c0078t0019g0151	5	218	0.0229	-10	c.979 others(29): Show c.979-10717_979-10708delTATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346658	ATATATAT others(3): Show ATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18964.hp1 HG02451.hp1 NA18964.hp1	a0003 a0041 a0003 a0041	a0003c0013 a0041c0113 a0003c0013 a0041c0113	a0003c0013t0027 a0041c0113t0002 a0003c0013t0027 a0041c0113t0002	a0003c0013t0027g0149 a0041c0113t0002g0167 a0003c0013t0027g0149 a0041c0113t0002g0167	2	218	0.0092	-10	c.979 others(29): Show c.979-10759_979-10750delAATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13354869	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00738.hp1 others(36): Show HG00140.hp1 HG00544.hp1 HG00738.hp1 HG01099.hp1 HG01109.hp1 HG01169.hp2 HG01255.hp2 HG01496.hp1 HG01934.hp2 HG01952.hp1 HG01993.hp2 HG02055.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02723.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03540.hp2 HG03688.hp2 HG03831.hp1 HG04228.hp2 HG06807.hp1 NA18955.hp2 NA18973.hp1 NA19000.hp2 NA19030.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0016 a0017 a0019 a0022 a0024 a0025 a0027 a0029 a0030 a0036	a0001c0005 a0001c0006 a0001c0015 others(30): Show a0001c0005 a0001c0006 a0001c0015 a0001c0025 a0001c0035 a0001c0036 a0001c0055 a0002c0002 a0002c0004 a0002c0010 a0002c0018 a0003c0013 a0004c0080 a0007c0008 a0008c0011 a0009c0051 a0009c0133 a0010c0105 a0011c0022 a0012c0048 a0012c0074 a0014c0046 a0016c0132 a0017c0078 a0019c0092 a0019c0094 a0022c0089 a0024c0040 a0025c0097 a0027c0039 a0029c0065 a0030c0117 a0036c0093	a0001c0005t0005 a0001c0005t0047 a0001c0006t0008 others(33): Show a0001c0005t0005 a0001c0005t0047 a0001c0006t0008 a0001c0015t0004 a0001c0025t0031 a0001c0035t0004 a0001c0036t0007 a0001c0055t0004 a0002c0002t0003 a0002c0004t0002 a0002c0004t0003 a0002c0004t0007 a0002c0010t0003 a0002c0018t0002 a0003c0013t0027 a0004c0080t0009 a0007c0008t0002 a0008c0011t0002 a0009c0051t0003 a0009c0133t0010 a0010c0105t0004 a0011c0022t0003 a0012c0048t0006 a0012c0074t0019 a0014c0046t0001 a0016c0132t0001 a0017c0078t0019 a0019c0092t0007 a0019c0094t0016 a0022c0089t0001 a0024c0040t0001 a0025c0097t0003 a0027c0039t0004 a0029c0065t0002 a0030c0117t0012 a0036c0093t0005	a0001c0005t0005g0028 a0001c0005t0047g0024 a0001c0006t0008g0217 others(36): Show a0001c0005t0005g0028 a0001c0005t0047g0024 a0001c0006t0008g0217 a0001c0015t0004g0047 a0001c0015t0004g0074 a0001c0025t0031g0104 a0001c0035t0004g0021 a0001c0036t0007g0205 a0001c0055t0004g0083 a0002c0002t0003g0090 a0002c0004t0002g0113 a0002c0004t0003g0127 a0002c0004t0007g0086 a0002c0010t0003g0023 a0002c0018t0002g0185 a0003c0013t0027g0149 a0004c0080t0009g0129 a0007c0008t0002g0033 a0007c0008t0002g0065 a0007c0008t0002g0125 a0008c0011t0002g0133 a0009c0051t0003g0186 a0009c0133t0010g0139 a0010c0105t0004g0200 a0011c0022t0003g0164 a0012c0048t0006g0154 a0012c0074t0019g0152 a0014c0046t0001g0146 a0016c0132t0001g0007 a0017c0078t0019g0151 a0019c0092t0007g0162 a0019c0094t0016g0203 a0022c0089t0001g0143 a0024c0040t0001g0089 a0025c0097t0003g0183 a0027c0039t0004g0107 a0029c0065t0002g0172 a0030c0117t0012g0206 a0036c0093t0005g0027	39	218	0.1789	-10	c.978 others(27): Show c.978+4727_978+4736delAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13360261	GTGTGTAT others(3): Show GTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0122 a0002c0122	a0002c0122t0009 a0002c0122t0009	a0002c0122t0009g0079 a0002c0122t0009g0079	1	218	0.0046	-10	c.785 others(25): Show c.785-472_785-463delTATATACACA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	5/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13388245	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01256.hp1 HG01975.hp1 others(1): Show HG01070.hp2 HG01256.hp1 HG01975.hp1 HG04115.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0005c0064 a0007c0012 a0001c0001 a0005c0064 a0007c0012	a0001c0001t0001 a0005c0064t0001 a0007c0012t0003 others(1): Show a0001c0001t0001 a0005c0064t0001 a0007c0012t0003 a0007c0012t0006	a0001c0001t0001g0050 a0005c0064t0001g0034 a0007c0012t0003g0091 others(1): Show a0001c0001t0001g0050 a0005c0064t0001g0034 a0007c0012t0003g0091 a0007c0012t0006g0120	4	218	0.0184	-10	c.540 others(29): Show c.540-16476_540-16467delAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13402873	CATATATA others(3): Show CATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02896.hp1 HG03130.hp1 others(2): Show HG02572.hp1 HG02896.hp1 HG03130.hp1 HG03540.hp2 NA18522.hp1	a0001 a0019 a0021 a0001 a0019 a0021	a0001c0005 a0001c0029 a0001c0071 others(2): Show a0001c0005 a0001c0029 a0001c0071 a0019c0094 a0021c0026	a0001c0005t0047 a0001c0029t0036 a0001c0071t0037 others(2): Show a0001c0005t0047 a0001c0029t0036 a0001c0071t0037 a0019c0094t0016 a0021c0026t0007	a0001c0005t0047g0024 a0001c0029t0036g0215 a0001c0071t0037g0213 others(2): Show a0001c0005t0047g0024 a0001c0029t0036g0215 a0001c0071t0037g0213 a0019c0094t0016g0203 a0021c0026t0007g0084	5	218	0.0229	-10	c.540 others(29): Show c.540-31104_540-31095delATATATATAT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13406462	AAATTATA others(3): Show AAATTATATAT	A A	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0007 a0003c0013t0007	a0003c0013t0007g0041 a0003c0013t0007g0041	1	218	0.0046	-10	c.540 others(29): Show c.540-34693_540-34684delATATATAATT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13406465	TTATATAT others(3): Show TTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0127 a0001c0127	a0001c0127t0001 a0001c0127t0001	a0001c0127t0001g0174 a0001c0127t0001g0174	1	218	0.0046	-10	c.540 others(29): Show c.540-34696_540-34687delTATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar

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