Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CARHSP1_chr16_8847947_8874006	8857263	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18986.hp2 NA19030.hp2 others(2): Show NA18982.hp1 NA18986.hp2 NA19030.hp2 NA19075.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0012 a0001c0002t0003 a0001c0001t0003 a0001c0001t0012 a0001c0002t0003	a0001c0001t0003g0061 a0001c0001t0003g0219 a0001c0001t0012g0406 others(2): Show a0001c0001t0003g0061 a0001c0001t0003g0219 a0001c0001t0012g0406 a0001c0002t0003g0072 a0001c0002t0003g0236	5	116	0.0431	14	c.281 others(31): Show c.281+1073_281+1086dupAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8861989	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18980.hp1 NA18988.hp2 others(2): Show HG01943.hp1 NA18980.hp1 NA18988.hp2 NA19075.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0373 others(2): Show a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0373 a0001c0001t0001g0375 a0001c0001t0001g0409	5	104	0.0481	14	c.-7- others(29): Show c.-7-2668_-7-2655dupAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	1/3			chr16	TogoVar
CARM1_chr19_10866553_10928075	10919860	T T	TTGCTGGG others(7): Show TTGCTGGGGAAGCCA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0070 a0003c0007t0002g0070	1	352	0.0028	14	c.110 others(29): Show c.1107-17_1107-16insTGCTGGGGAAGCCA	CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	9/15			chr19	TogoVar
CARMIL1_chr6_25274374_25625530	25281136	G G	GCGCGCGC others(7): Show GCGCGCGCACACACA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18998.hp1 NA18998.hp2 NA18950.hp2 NA18998.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0002 a0001c0003t0003 a0001c0001t0003 a0001c0003t0002 a0001c0003t0003	a0001c0001t0003g0125 a0001c0003t0002g0082 a0001c0003t0003g0124 a0001c0001t0003g0125 a0001c0003t0002g0082 a0001c0003t0003g0124	3	49	0.0612	14	c.40+ others(29): Show c.40+1302_40+1303insGCGCGCACACACAC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25281136	G G	GCGCGCGC others(7): Show GCGCGCGCGCACACA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03491.hp2 HG03492.hp2 others(1): Show HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1	a0001 a0001	a0001c0004 a0001c0012 a0001c0004 a0001c0012	a0001c0004t0004 a0001c0012t0006 a0001c0004t0004 a0001c0012t0006	a0001c0004t0004g0117 a0001c0012t0006g0114 a0001c0012t0006g0115 others(1): Show a0001c0004t0004g0117 a0001c0012t0006g0114 a0001c0012t0006g0115 a0001c0012t0006g0116	4	50	0.0800	14	c.40+ others(29): Show c.40+1302_40+1303insGCGCGCGCACACAC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25281136	G G	GCGCGCGC others(7): Show GCGCGCGCGCGCACA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	47	0.0213	14	c.40+ others(29): Show c.40+1302_40+1303insGCGCGCGCGCACAC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25293265	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01192.hp2 HG03942.hp1 others(2): Show HG00621.hp1 HG01192.hp2 HG03942.hp1 NA18948.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0008 others(1): Show a0001c0001 a0001c0003 a0001c0008 a0002c0007	a0001c0001t0001 a0001c0003t0002 a0001c0008t0001 others(1): Show a0001c0001t0001 a0001c0003t0002 a0001c0008t0001 a0002c0007t0003	a0001c0001t0001g0097 a0001c0003t0002g0092 a0001c0003t0002g0096 others(2): Show a0001c0001t0001g0097 a0001c0003t0002g0092 a0001c0003t0002g0096 a0001c0008t0001g0013 a0002c0007t0003g0032	5	42	0.1190	14	c.138 others(31): Show c.138+8383_138+8396dupGTGTGTGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25332742	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	88	0.0114	14	c.138 others(33): Show c.138+47850_138+47863dupACACACACACACAC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25332771	A A	ACACACAC others(7): Show ACACACACACACACG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0185 a0001c0002t0012g0185	1	176	0.0057	14	c.138 others(33): Show c.138+47863_138+47864insACACACACACACGC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25364572	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	174	0.0057	14	c.139 others(33): Show c.139-55534_139-55533insTTTTTTTTTTTTTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441333	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0008 a0008	a0008c0035 a0008c0035	a0008c0035t0004 a0008c0035t0004	a0008c0035t0004g0028 a0008c0035t0004g0028	1	162	0.0062	14	c.371 others(31): Show c.371+5730_371+5731insGTGTGTGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441335	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02738.hp1 HG02735.hp2 HG02738.hp1	a0001 a0001	a0001c0003 a0001c0029 a0001c0003 a0001c0029	a0001c0003t0004 a0001c0029t0006 a0001c0003t0004 a0001c0029t0006	a0001c0003t0004g0003 a0001c0029t0006g0031 a0001c0003t0004g0003 a0001c0029t0006g0031	2	150	0.0133	14	c.371 others(31): Show c.371+5732_371+5733insGTGTGTGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATATAT others(7): Show ATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA21309.hp2 HG02135.hp1 NA21309.hp2	a0001 a0001	a0001c0008 a0001c0009 a0001c0008 a0001c0009	a0001c0008t0010 a0001c0009t0002 a0001c0008t0010 a0001c0009t0002	a0001c0008t0010g0147 a0001c0009t0002g0058 a0001c0008t0010g0147 a0001c0009t0002g0058	2	25	0.0800	14	c.371 others(31): Show c.371+5734_371+5735insATATATATATATGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATATGT others(7): Show ATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0003 a0003	a0003c0024 a0003c0024	a0003c0024t0008 a0003c0024t0008	a0003c0024t0008g0004 a0003c0024t0008g0004	1	24	0.0417	14	c.371 others(31): Show c.371+5734_371+5735insATATGTGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATGTGT others(7): Show ATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02148.hp2 HG02486.hp2 others(1): Show HG02055.hp2 HG02148.hp2 HG02486.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0007	a0001c0001t0001 a0001c0002t0008 a0001c0004t0006 others(1): Show a0001c0001t0001 a0001c0002t0008 a0001c0004t0006 a0002c0007t0006	a0001c0001t0001g0110 a0001c0002t0008g0059 a0001c0004t0006g0060 others(1): Show a0001c0001t0001g0110 a0001c0002t0008g0059 a0001c0004t0006g0060 a0002c0007t0006g0106	4	27	0.1481	14	c.371 others(31): Show c.371+5734_371+5735insATGTGTGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp2 NA18943.hp1 others(4): Show HG00438.hp1 HG00673.hp2 NA18943.hp1 NA18948.hp1 NA18956.hp1 NA18998.hp1 NA19072.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0007c0026 a0001c0001 a0001c0003 a0007c0026	a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0003t0002 a0007c0026t0002	a0001c0001t0003g0118 a0001c0001t0003g0125 a0001c0001t0005g0128 others(4): Show a0001c0001t0003g0118 a0001c0001t0003g0125 a0001c0001t0005g0128 a0001c0001t0005g0138 a0001c0001t0010g0155 a0001c0003t0002g0092 a0007c0026t0002g0075	7	30	0.2333	14	c.371 others(31): Show c.371+5755_371+5768dupGTGTGTGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459207	A A	ACTTTTTC others(7): Show ACTTTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0003 a0002c0014t0003	a0002c0014t0003g0098 a0002c0014t0003g0098	1	184	0.0054	14	c.615 others(31): Show c.615-6661_615-6648dupTTCTTTCTTTCTTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459268	T T	TTCTTTCT others(7): Show TTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02970.hp1 NA18998.hp2 HG02165.hp1 HG02970.hp1 NA18998.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0003 a0002c0028 a0005c0030 a0001c0003 a0002c0028 a0005c0030	a0001c0003t0003 a0002c0028t0003 a0005c0030t0005 a0001c0003t0003 a0002c0028t0003 a0005c0030t0005	a0001c0003t0003g0124 a0002c0028t0003g0065 a0005c0030t0005g0159 a0001c0003t0003g0124 a0002c0028t0003g0065 a0005c0030t0005g0159	3	155	0.0194	14	c.615 others(31): Show c.615-6604_615-6603insCTTTCTTTCTTTCT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25529755	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01361.hp1 HG03942.hp2 HG01109.hp2 HG01361.hp1 HG03942.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0014 a0001c0004t0004 a0001c0004t0014	a0001c0004t0004g0034 a0001c0004t0014g0156 a0001c0004t0014g0178 a0001c0004t0004g0034 a0001c0004t0014g0156 a0001c0004t0014g0178	3	101	0.0297	14	c.206 others(31): Show c.2067+879_2067+892dupAAAAAAAAAAAAAA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARNS1_chr11_67410678_67430604	67424861	C C	CCACACAC others(7): Show CCACACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp1 HG01109.hp1 HG01496.hp2 others(14): Show HG00733.hp1 HG01109.hp1 HG01496.hp2 HG01884.hp1 HG02027.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02615.hp1 HG02717.hp2 HG02922.hp2 HG03486.hp1 HG06807.hp2 NA18522.hp1 NA18940.hp1 NA18970.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0001c0005 others(2): Show a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0002c0002	a0001c0003t0012 a0001c0003t0013 a0001c0003t0027 others(7): Show a0001c0003t0012 a0001c0003t0013 a0001c0003t0027 a0001c0004t0012 a0001c0004t0013 a0001c0004t0038 a0001c0005t0020 a0001c0008t0013 a0002c0002t0020 a0002c0002t0026	a0001c0003t0012g0003 a0001c0003t0012g0019 a0001c0003t0013g0019 others(11): Show a0001c0003t0012g0003 a0001c0003t0012g0019 a0001c0003t0013g0019 a0001c0003t0027g0001 a0001c0004t0012g0010 a0001c0004t0012g0044 a0001c0004t0013g0009 a0001c0004t0013g0026 a0001c0004t0038g0009 a0001c0005t0020g0006 a0001c0008t0013g0018 a0001c0008t0013g0027 a0002c0002t0020g0004 a0002c0002t0026g0056	17	159	0.1069	14	c.27 others(23): Show c.278_*291dupACACACACACACAC	CARNS1	ENSG00000172508.11	transcript	ENST00000687366.1	protein_coding	10/10	292	INFO_REALIGN_3_PRIME	chr11	TogoVar
CARS2_chr13_110636417_110711116	110649931	C C	CTGTTTTT others(7): Show CTGTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0309 a0001c0001t0002g0309	1	17	0.0588	14	c.105 others(33): Show c.1054+1102_1054+1103insAAAAAAAAAAAACA	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	10/14			chr13	TogoVar
CARS2_chr13_110636417_110711116	110649931	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0002 a0010c0018t0002	a0010c0018t0002g0263 a0010c0018t0002g0263	1	17	0.0588	14	c.105 others(33): Show c.1054+1089_1054+1102dupAAAAAAAAAAAAAA	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	10/14			chr13	TogoVar
CARS2_chr13_110636417_110711116	110679650	C C	CGGGGAGG others(7): Show CGGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0283 a0001c0003t0002g0283	1	133	0.0075	14	c.656 others(31): Show c.656-2548_656-2547insCTCCCTCCCTCCCC	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14			chr13	TogoVar
CASC3_chr17_40135537_40177171	40140317	A A	AACACACA others(7): Show AACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG03017.hp2 HG01433.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0184 a0001c0001t0001g0099 a0001c0001t0001g0184	2	128	0.0156	14	c.-23 others(23): Show c.-232_-231insACACACACACACAC	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		219		chr17	TogoVar
CASC3_chr17_40135537_40177171	40140344	A A	ACACACAC others(7): Show ACACACACACACACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03486.hp1 NA21309.hp1 HG03209.hp1 HG03486.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0119 a0001c0001t0001g0175 a0001c0001t0001g0176	3	264	0.0114	14	c.-20 others(23): Show c.-205_-204insCACACACACACACC	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		192		chr17	TogoVar
CASC3_chr17_40135537_40177171	40140373	A A	AACACACA others(7): Show AACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	94	0.0106	14	c.-17 others(23): Show c.-176_-175insACACACACACACAC	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		163		chr17	TogoVar
CASC3_chr17_40135537_40177171	40140375	C C	CACACACA others(7): Show CACACACACACCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	261	0.0038	14	c.-17 others(23): Show c.-174_-173insACACACACACCCCA	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		161		chr17	TogoVar
CASC3_chr17_40135537_40177171	40140379	C C	CACACACA others(7): Show CACACACACACCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 NA18954.hp1 NA18963.hp1 others(2): Show HG02083.hp1 NA18954.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0073 a0001c0001t0001g0077 others(2): Show a0001c0001t0001g0063 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0086 a0001c0001t0001g0188	5	254	0.0197	14	c.-17 others(23): Show c.-170_-169insACACACACACCCCA	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		157		chr17	TogoVar
CASC3_chr17_40135537_40177171	40172969	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03579.hp1 NA21309.hp2 HG02976.hp2 HG03579.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0005 a0001c0001t0001 a0005c0005t0005	a0001c0001t0001g0232 a0001c0001t0001g0240 a0005c0005t0005g0018 a0001c0001t0001g0232 a0001c0001t0001g0240 a0005c0005t0005g0018	3	129	0.0233	14	c.25 others(25): Show c.2564_*2565insTGTGTGTGTGTGTG	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		799		chr17	TogoVar
CASD1_chr7_94504809_94562019	94559276	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0039 a0001c0001t0004g0039	1	168	0.0060	14	c.35 others(25): Show c.3518_*3519insTGTGTGTGTGTGTG	CASD1	ENSG00000127995.17	transcript	ENST00000297273.9	protein_coding		2258		chr7	TogoVar
CASD1_chr7_94504809_94562019	94559308	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0088 a0002c0004t0001g0088	1	299	0.0033	14	c.35 others(25): Show c.3550_*3551insTGTGTGTGTGTGTA	CASD1	ENSG00000127995.17	transcript	ENST00000297273.9	protein_coding		2290		chr7	TogoVar
CASK_chrX_41509934_41928554	41710081	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01433.hp1 HG02647.hp1 others(4): Show HG00140.hp1 HG01433.hp1 HG02647.hp1 HG02698.hp1 HG02896.hp1 HG03239.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0084 others(4): Show a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0136 a0001c0001t0001g0155 a0001c0001t0014g0022	7	46	0.1522	14	c.429 others(33): Show c.429+29289_429+29302dupCACACACACACACA	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	5/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41829696	G G	GATATATA others(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA19068.hp1 HG03139.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0115 a0001c0001t0001g0094 a0001c0001t0001g0115	2	29	0.0690	14	c.172 others(33): Show c.172+23405_172+23418dupATATATATATATAT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41869812	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02083.hp1 HG02132.hp1 others(5): Show HG00609.hp1 HG02083.hp1 HG02132.hp1 HG03017.hp1 NA18612.hp1 NA18948.hp1 NA19056.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0002 a0001c0001t0001g0037 a0001c0001t0001g0119 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0037 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0003g0108 a0001c0001t0003g0130 a0001c0001t0004g0118	8	69	0.1159	14	c.60- others(31): Show c.60-16599_60-16586dupTTTTTTTTTTTTTT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	1/26			chrX	TogoVar
CASP1_chr11_105020508_105040144	105035618	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00738.hp2 HG01099.hp1 others(4): Show HG00323.hp2 HG00738.hp2 HG01099.hp1 HG01258.hp2 HG02145.hp1 NA18906.hp2 NA18979.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0002 a0004c0006t0001 a0001c0001t0002 a0004c0006t0001	a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0020 others(1): Show a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0020 a0004c0006t0001g0016	7	14	0.5000	14	c.-50 others(23): Show c.-506_-505insAAAAAAAAAAAAAA	CASP1	ENSG00000137752.25	transcript	ENST00000533400.6	protein_coding		475		chr11	TogoVar
CASP2_chr7_143283351_143312696	143291780	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01346.hp1 HG02257.hp1 others(3): Show HG00642.hp2 HG01346.hp1 HG02257.hp1 HG03130.hp1 HG03471.hp1 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 a0001c0001 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0002c0002t0010 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0010 a0002c0005t0008 a0002c0005t0022	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0002g0072 others(3): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0002g0072 a0002c0002t0010g0014 a0002c0005t0008g0014 a0002c0005t0022g0014	6	36	0.1667	14	c.225 others(28): Show c.225+97_225+110dupTTTTTTTTTTTTTT	CASP2	ENSG00000106144.20	transcript	ENST00000310447.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASP3_chr4_184622696_184654447	184631542	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01243.hp2 HG01261.hp1 others(13): Show HG00738.hp2 HG01243.hp2 HG01261.hp1 HG02004.hp2 HG02258.hp1 HG02895.hp2 HG02897.hp2 HG03579.hp2 NA18952.hp1 NA18962.hp2 NA18977.hp2 NA18986.hp2 NA18992.hp2 NA19005.hp2 NA19085.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0021 a0001c0001t0002 a0001c0001t0003 a0001c0001t0021	a0001c0001t0002g0009 a0001c0001t0002g0015 a0001c0001t0002g0167 others(6): Show a0001c0001t0002g0009 a0001c0001t0002g0015 a0001c0001t0002g0167 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0211 a0001c0001t0003g0071 a0001c0001t0003g0075 a0001c0001t0021g0204	16	54	0.2963	14	c.483 others(29): Show c.483+209_483+222dupTTTTTTTTTTTTTT	CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding	6/7			chr4	TogoVar
CASP3_chr4_184622696_184654447	184631542	T T	TTAAAAAA others(7): Show TTAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	2	40	0.0500	14	c.483 others(29): Show c.483+222_483+223insTTTTTTTTTTTTTA	CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding	6/7			chr4	TogoVar
CASP4_chr11_104937866_104973574	104950797	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02451.hp1 HG03130.hp2 others(2): Show HG00558.hp2 HG02451.hp1 HG03130.hp2 HG03139.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0083 a0001c0001t0001g0126 others(1): Show a0001c0001t0001g0041 a0001c0001t0001g0083 a0001c0001t0001g0126 a0001c0001t0001g0142	5	14	0.3571	14	c.546 others(29): Show c.546+114_546+127dupGTGTGTGTGTGTGT	CASP4	ENSG00000196954.14	transcript	ENST00000444739.7	protein_coding	4/8			chr11	TogoVar
CASP6_chr4_109683628_109708445	109706129	T T	TTATATAT others(7): Show TTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01243.hp1 HG03453.hp1 others(6): Show HG00639.hp1 HG01243.hp1 HG03453.hp1 NA18522.hp2 NA18964.hp1 NA18970.hp1 NA19030.hp1 NA19079.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0003 a0001c0001t0007 a0001c0002t0006 others(1): Show a0001c0001t0003 a0001c0001t0007 a0001c0002t0006 a0002c0003t0003	a0001c0001t0003g0073 a0001c0001t0003g0112 a0001c0001t0007g0029 others(3): Show a0001c0001t0003g0073 a0001c0001t0003g0112 a0001c0001t0007g0029 a0001c0001t0007g0196 a0001c0002t0006g0012 a0002c0003t0003g0011	9	237	0.0380	14	c.-27 others(25): Show c.-2735_-2734insTATATATATATATA	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2685		chr4	TogoVar
CASP6_chr4_109683628_109708445	109706131	T T	TTATATAT others(7): Show TTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG02523.hp1 HG02523.hp2 others(5): Show HG01167.hp1 HG02523.hp1 HG02523.hp2 NA18965.hp2 NA18991.hp1 NA19006.hp1 NA19010.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0027 a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0027	8	168	0.0476	14	c.-27 others(25): Show c.-2737_-2736insTATATATATATATA	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2687		chr4	TogoVar
CASP6_chr4_109683628_109708445	109706168	T T	TATATATA others(7): Show TATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	353	0.0028	14	c.-27 others(25): Show c.-2774_-2773insGTATATATATATAT	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2724		chr4	TogoVar
CASP6_chr4_109683628_109708445	109706170	T T	TATATATA others(7): Show TATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	403	0.0025	14	c.-27 others(25): Show c.-2776_-2775insGTATATATATATAT	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2726		chr4	TogoVar
CASP7_chr10_113674912_113735905	113678603	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0260 a0001c0001t0003g0260	1	63	0.0159	14	c.-13 others(25): Show c.-1376_-1375insGTGTGTGTGTGTGT	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding		1308		chr10	TogoVar
CASP7_chr10_113674912_113735905	113687794	C C	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0328 a0002c0002t0001g0328	1	272	0.0037	14	c.-1+ others(29): Show c.-1+7817_-1+7818insTTCTTTCTTTCTTT	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
CASP8_chr2_201255536_201292709	201281933	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG06807.hp2 HG02965.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0057	2	310	0.0065	14	c.803 others(31): Show c.803-2874_803-2861dupTTTTTTTTTTTTTT	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CASQ1_chr1_160185575_160206886	160186086	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00558.hp2 others(102): Show HG00423.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01346.hp1 HG01433.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02155.hp1 HG02273.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02647.hp2 HG02738.hp1 HG02738.hp2 HG02922.hp2 HG03225.hp1 HG03239.hp1 HG03654.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19072.hp1 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19089.hp2 NA20129.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0008 a0009	a0001c0001 a0001c0002 a0002c0005 others(4): Show a0001c0001 a0001c0002 a0002c0005 a0003c0003 a0005c0008 a0008c0012 a0009c0011	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0002c0005t0002 a0003c0003t0003 a0005c0008t0001 a0008c0012t0001 a0009c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(38): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0067 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0007g0024 a0001c0002t0001g0041 a0002c0005t0002g0049 a0003c0003t0003g0129 a0005c0008t0001g0112 a0008c0012t0001g0079 a0009c0011t0001g0003	105	199	0.5276	14	c.-46 others(25): Show c.-4666_-4665insAAAAAAAAAAAAAA	CASQ1	ENSG00000143318.13	transcript	ENST00000368078.8	protein_coding		4488		chr1	TogoVar
CASS4_chr20_56407260_56465382	56443469	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0010 a0001c0009t0010	a0001c0009t0010g0182 a0001c0009t0010g0182	1	210	0.0048	14	c.460 others(31): Show c.460-2420_460-2419insAAAAAAAAAAAAAA	CASS4	ENSG00000087589.17	transcript	ENST00000679887.1	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
CASTOR2_chr7_74959705_75036528	74960666	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0032 a0001c0001t0064g0032	1	200	0.0050	14	c.-43 others(25): Show c.-4320_-4319insAAAAAAAAAAAAAA	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		4038		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74960681	A A	AAAATATA others(7): Show AAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0019 a0001c0001t0054g0019	1	171	0.0058	14	c.-43 others(25): Show c.-4305_-4304insAAATATATATATAT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		4023		chr7	TogoVar

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