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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
C8A_chr1_56849797_56923223	56885440	G G	GTAAATAT others(29): Show GTAAATATATATATATTTCCGTAAATATATATTTATT	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18952.hp2 HG00408.hp1 NA18952.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0007 a0004c0004t0001g0007	2	364	0.0055	36	c.856 others(51): Show c.856-475_856-440dupATATTTCCGTAAATATATATTTATTTAAAT ATATAT		C8A	ENSG00000157131.12	transcript	ENST00000361249.4	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
C8B_chr1_56924207_56971015	56963590	G G	GGGGGTCA others(29): Show GGGGGTCAGATACACAATGTGGGGGTTGGGGGGTGGT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	400	0.0025	36	c.92+ others(51): Show c.92+2266_92+2267insACCACCCCCCAACCCCCACATTGTGTATCT GACCCC		C8B	ENSG00000021852.14	transcript	ENST00000371237.9	protein_coding	1/11						chr1	TogoVar
C8orf88_chr8_90953471_90990238	90968657	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18989.hp2 NA18998.hp1 HG02071.hp2 NA18989.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0159 a0001c0001t0002g0093 a0001c0001t0002g0142 a0001c0001t0001g0159 a0001c0001t0002g0093 a0001c0001t0002g0142	3	98	0.0306	36	c.223 others(53): Show c.223+2408_223+2409insATATATATATATATATATATATATATAT ATATATAT		C8orf88	ENSG00000253250.3	transcript	ENST00000517562.3	protein_coding	4/5						chr8	TogoVar
C9_chr5_39279140_39369495	39333554	A A	ATCTCCCT others(29): Show ATCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	263	0.0038	36	c.477 others(53): Show c.477-1741_477-1740insGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGA		C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	4/10						chr5	TogoVar
C9orf153_chr9_86215265_86264657	86250013	C C	CAAGGGTG others(29): Show CAAGGGTGATGGAGCCGTGTGGATTATTTTATGGGGA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	382	0.0026	36	c.-27 others(53): Show c.-27+9501_-27+9536dupTCCCCATAAAATAATCCACACGGCTCCA TCACCCTT		C9orf153	ENSG00000187753.13	transcript	ENST00000339137.7	protein_coding	1/3						chr9	TogoVar
C9orf72_chr9_27541546_27578481	27573523	C C	CGCCCCGG others(29): Show CGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01891.hp1 HG02451.hp2 others(7): Show HG00642.hp1 HG01891.hp1 HG02451.hp2 HG02723.hp1 HG03453.hp2 HG03491.hp1 HG03492.hp1 HG03942.hp2 NA18951.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0007 a0001c0002t0005 a0001c0001t0003 a0001c0001t0007 a0001c0002t0005	a0001c0001t0003g0010 a0001c0001t0003g0043 a0001c0001t0003g0145 others(5): Show a0001c0001t0003g0010 a0001c0001t0003g0043 a0001c0001t0003g0145 a0001c0001t0003g0158 a0001c0001t0007g0029 a0001c0001t0007g0055 a0001c0001t0007g0056 a0001c0002t0005g0057	10	16	0.6250	36	c.-13 others(45): Show c.-138_-137insCGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGGGGC		C9orf72	ENSG00000147894.17	transcript	ENST00000380003.8	protein_coding					43		chr9	TogoVar
CA10_chr17_51625320_52163714	51717760	T T	TATATATG others(29): Show TATATATGTATACATATATGCATGTATATATACATGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03486.hp2 HG03516.hp2 HG01884.hp2 HG03486.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0002t0001g0066 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0002t0001g0066	3	151	0.0199	36	c.465 others(55): Show c.465+29872_465+29873insGCATGTATATATACATGCATATATGT ATACATATAT		CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	4/8						chr17	TogoVar
CA10_chr17_51625320_52163714	51942538	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	41	0.0244	36	c.137 others(55): Show c.137-11407_137-11406insTATATATATATATATATATATATATA TATATATATA		CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	2/8						chr17	TogoVar
CA1_chr8_85322608_85383113	85334586	C C	CCCTTCCT others(29): Show CCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02083.hp1 NA18951.hp1 others(3): Show HG02027.hp2 HG02083.hp1 NA18951.hp1 NA19000.hp1 NA19057.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0099 a0001c0001t0002g0185 others(3): Show a0001c0001t0002g0088 a0001c0001t0002g0099 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0206	6	322	0.0186	36	c.355 others(52): Show c.355-1002_355-967dupAAGGGAGGGAGGAAGGAAGGGAGGGAGGG AGGAAGG		CA1	ENSG00000133742.14	transcript	ENST00000523022.6	protein_coding	4/7						chr8	TogoVar
CA6_chr1_8940868_8980092	8977700	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 NA18988.hp2 HG04204.hp1 NA18988.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0001 a0003c0004t0001 a0001c0002t0001 a0003c0004t0001	a0001c0002t0001g0237 a0003c0004t0001g0190 a0001c0002t0001g0237 a0003c0004t0001g0190	2	108	0.0185	36	c.29 others(47): Show c.2996_*2997insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG		CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding					2609		chr1	TogoVar
CA8_chr8_60180412_60286400	60190938	C C	CACTATAT others(29): Show CACTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0288 a0001c0001t0016g0289 a0001c0001t0016g0288 a0001c0001t0016g0289	2	254	0.0079	36	c.36 others(51): Show c.36-954_*36-953insTATATATATATATATATATATATATATATA TATAGT		CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8						chr8	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp2 HG02155.hp1 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0005 a0001c0001t0002 a0001c0002t0005	a0001c0001t0002g0310 a0001c0002t0005g0106 a0001c0001t0002g0310 a0001c0002t0005g0106	2	204	0.0098	36	c.36 others(51): Show c.36-973_*36-972insGTGTGTGTATATATATATATATATATATAT ATATAT		CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8						chr8	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG03195.hp1 NA19010.hp2 HG00408.hp1 HG03195.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0002t0027 a0001c0001t0002 a0001c0001t0006 a0001c0002t0027	a0001c0001t0002g0220 a0001c0001t0006g0194 a0001c0002t0027g0017 a0001c0001t0002g0220 a0001c0001t0006g0194 a0001c0002t0027g0017	3	205	0.0146	36	c.36 others(51): Show c.36-973_*36-972insGTGTGTATATATATATATATATATATATAT ATATAT		CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8						chr8	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0281 a0001c0001t0020g0281	1	203	0.0049	36	c.36 others(51): Show c.36-973_*36-972insGTGTATATATATATATATATATATATATAT ATATAT		CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8						chr8	TogoVar
CA8_chr8_60180412_60286400	60219929	T T	TAAAAAAA others(29): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0282 a0001c0001t0020g0282	1	144	0.0069	36	c.738 others(53): Show c.738+2719_738+2720insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT		CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	7/8						chr8	TogoVar
CAAP1_chr9_26835685_26897802	26872553	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03098.hp2 HG01891.hp1 HG03098.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0023 a0002c0003t0001g0037 a0002c0003t0001g0023 a0002c0003t0001g0037	2	319	0.0063	36	c.666 others(55): Show c.666-11415_666-11414insATATATATATATATATATATATATAT ATATATATAT		CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	4/5						chr9	TogoVar
CAB39L_chr13_49303650_49449064	49346100	G G	GAGATATA others(29): Show GAGATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0149 a0001c0002t0001g0149	1	163	0.0061	36	c.565 others(53): Show c.565-1863_565-1862insATATATATATATATATATATATATATAT ATATATCT		CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10						chr13	TogoVar
CAB39L_chr13_49303650_49449064	49346100	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0151 a0001c0002t0001g0151	1	163	0.0061	36	c.565 others(53): Show c.565-1863_565-1862insATATATATATATATATATATATATATAT ATATATAT		CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10						chr13	TogoVar
CAB39L_chr13_49303650_49449064	49405719	G G	GAGAGAGG others(29): Show GAGAGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	211	0.0047	36	c.-31 others(55): Show c.-31-22779_-31-22778insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTCTCT		CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	3/10						chr13	TogoVar
CAB39L_chr13_49303650_49449064	49405719	G G	GAGGAAGG others(29): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01192.hp1 HG01192.hp2 others(15): Show HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01261.hp2 HG01496.hp1 HG01978.hp1 HG02145.hp2 HG02293.hp1 HG02602.hp1 HG02809.hp1 HG03225.hp1 HG03540.hp2 HG03710.hp1 HG03834.hp1 HG04184.hp2 HG04204.hp2 NA19030.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0109 a0001c0001t0001g0316 a0001c0001t0002g0163 others(15): Show a0001c0001t0001g0109 a0001c0001t0001g0316 a0001c0001t0002g0163 a0001c0001t0002g0170 a0001c0001t0002g0178 a0001c0001t0002g0185 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0237 a0001c0001t0003g0012 a0001c0001t0003g0019 a0001c0001t0004g0271 a0001c0001t0006g0162 a0001c0002t0001g0124 a0001c0002t0001g0149 a0001c0002t0002g0257 a0001c0002t0003g0025	18	228	0.0789	36	c.-31 others(55): Show c.-31-22779_-31-22778insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCT		CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	3/10						chr13	TogoVar
CAB39_chr2_230707842_230826075	230754384	C C	CCCCTCCT others(29): Show CCCCTCCTTCTTCCCCTTCCCCTCCTTCTTCCCCTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0057 a0001c0001t0047g0057	1	340	0.0029	36	c.-43 others(53): Show c.-43-5522_-43-5487dupTCCCCTCCTTCTTCCCCTTTCCCTCCTT CTTCCCCT		CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230754402	C C	CCCCTCCT others(29): Show CCCCTCCTTCTTCCCCTTCCCCTCCTTCTTCCCCTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG01070.hp2 others(32): Show HG00423.hp1 HG00597.hp1 HG01070.hp2 HG01167.hp1 HG01175.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG04204.hp1 HG06807.hp2 NA18944.hp2 NA18948.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18979.hp2 NA18986.hp2 NA18990.hp2 NA18991.hp1 NA18998.hp1 NA19002.hp1 NA19004.hp2 NA19055.hp1 NA19058.hp2 NA19065.hp2 NA19068.hp1 NA19085.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 others(7): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 a0001c0001t0022 a0001c0001t0024 a0001c0001t0028 a0001c0001t0039 a0001c0001t0044 a0001c0001t0059	a0001c0001t0005g0119 a0001c0001t0005g0124 a0001c0001t0005g0126 others(32): Show a0001c0001t0005g0119 a0001c0001t0005g0124 a0001c0001t0005g0126 a0001c0001t0005g0131 a0001c0001t0005g0132 a0001c0001t0005g0138 a0001c0001t0005g0142 a0001c0001t0005g0149 a0001c0001t0005g0152 a0001c0001t0005g0153 a0001c0001t0005g0307 a0001c0001t0007g0121 a0001c0001t0007g0122 a0001c0001t0007g0140 a0001c0001t0007g0141 a0001c0001t0007g0143 a0001c0001t0007g0144 a0001c0001t0007g0145 a0001c0001t0007g0156 a0001c0001t0013g0127 a0001c0001t0013g0128 a0001c0001t0013g0130 a0001c0001t0013g0139 a0001c0001t0014g0025 a0001c0001t0014g0146 a0001c0001t0014g0150 a0001c0001t0014g0151 a0001c0001t0022g0147 a0001c0001t0022g0148 a0001c0001t0024g0125 a0001c0001t0024g0129 a0001c0001t0028g0154 a0001c0001t0039g0120 a0001c0001t0044g0133 a0001c0001t0059g0155	35	338	0.1036	36	c.-43 others(53): Show c.-43-5540_-43-5539insCCCCTCCTTCTTCCCCTTTCCCTCCTTC TTCCCCTT		CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
CABCOCO1_chr10_61657929_61771766	61679281	T T	TTATATCT others(29): Show TTATATCTATATCTATATCTATATCTATATCTATATC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0214 a0001c0001t0005g0214	1	263	0.0038	36	c.165 others(53): Show c.165-1846_165-1811dupATCTATATCTATATCTATATCTATATCT ATATCTAT		CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
CABP5_chr19_48024383_48049079	48028497	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0029 a0003c0004t0004g0029	1	200	0.0050	36	c.20 others(47): Show c.2059_*2060insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA		CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding					885		chr19	TogoVar
CABS1_chr4_70329981_70342116	70340742	C C	CTATTTAT others(29): Show CTATTTATTTATTTATTTATTTATTTATTTATTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	47	0.0213	36	c.38 others(47): Show c.3896_*3897insTATTTATTTATTTATTTATTTATTTATTTATTTA TT		CABS1	ENSG00000145309.6	transcript	ENST00000273936.6	protein_coding					3627		chr4	TogoVar
CACFD1_chr9_133454978_133475848	133460122	A A	AGGAAGAG others(29): Show AGGAAGAGGGCATGACGTGGTGGTACCGCTGGCTGTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0007 a0002c0005t0002g0007	1	418	0.0024	36	c.57_ others(41): Show c.57_92dupGGAAGAGGGCATGACGTGGTGGTACCGCTGGCTGTG	p.Leu others(47): Show p.Leu30_Cys31insTrpGluGluGlyMetThrTrpTrpTyrArgTrpL eu	CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding	1/5	182/2803	93/519	31/172		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1A_chr19_13201442_13511479	13310485	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0020 a0009c0014t0020	a0009c0014t0020g0175 a0009c0014t0020g0175	1	162	0.0062	36	c.166 others(55): Show c.1669-1958_1669-1957insATATATATATATATATATATATATAT ATATATATAT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13325032	T T	TTCCTCTT others(29): Show TTCCTCTTCTTCTTCCTCTTCCCCTTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00735.hp1 others(28): Show HG00140.hp1 HG00438.hp1 HG00735.hp1 HG01070.hp1 HG01109.hp1 HG01123.hp2 HG01192.hp2 HG01496.hp2 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp2 HG02896.hp2 HG02970.hp2 HG03669.hp2 HG03834.hp2 NA18522.hp1 NA18944.hp1 NA18955.hp1 NA18968.hp1 NA19000.hp1 NA19030.hp1 NA19030.hp2 NA19084.hp2 NA20905.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0011 a0017 a0018 a0023 a0026 a0031 a0039 a0042 a0044	a0001c0001 a0001c0005 a0001c0018 others(24): Show a0001c0001 a0001c0005 a0001c0018 a0001c0020 a0001c0049 a0001c0071 a0001c0072 a0001c0098 a0002c0010 a0002c0019 a0002c0050 a0002c0085 a0003c0013 a0003c0046 a0003c0054 a0003c0055 a0003c0056 a0004c0093 a0011c0043 a0017c0078 a0018c0017 a0023c0042 a0026c0041 a0031c0059 a0039c0057 a0042c0045 a0044c0052	a0001c0001t0001 a0001c0005t0001 a0001c0018t0001 others(24): Show a0001c0001t0001 a0001c0005t0001 a0001c0018t0001 a0001c0020t0001 a0001c0049t0001 a0001c0071t0003 a0001c0072t0003 a0001c0098t0001 a0002c0010t0002 a0002c0019t0002 a0002c0050t0002 a0002c0085t0001 a0003c0013t0001 a0003c0046t0002 a0003c0054t0004 a0003c0055t0019 a0003c0056t0002 a0004c0093t0001 a0011c0043t0001 a0017c0078t0008 a0018c0017t0004 a0023c0042t0001 a0026c0041t0001 a0031c0059t0007 a0039c0057t0009 a0042c0045t0001 a0044c0052t0002	a0001c0001t0001g0022 a0001c0001t0001g0038 a0001c0005t0001g0204 others(28): Show a0001c0001t0001g0022 a0001c0001t0001g0038 a0001c0005t0001g0204 a0001c0018t0001g0031 a0001c0018t0001g0062 a0001c0020t0001g0186 a0001c0049t0001g0013 a0001c0071t0003g0138 a0001c0072t0003g0212 a0001c0098t0001g0101 a0002c0010t0002g0029 a0002c0010t0002g0057 a0002c0010t0002g0066 a0002c0019t0002g0188 a0002c0050t0002g0088 a0002c0085t0001g0085 a0003c0013t0001g0150 a0003c0046t0002g0115 a0003c0054t0004g0053 a0003c0055t0019g0071 a0003c0056t0002g0065 a0004c0093t0001g0044 a0011c0043t0001g0036 a0017c0078t0008g0149 a0018c0017t0004g0216 a0023c0042t0001g0092 a0026c0041t0001g0107 a0031c0059t0007g0001 a0039c0057t0009g0002 a0042c0045t0001g0173 a0044c0052t0002g0155	31	215	0.1442	36	c.134 others(55): Show c.1345+5176_1345+5211dupGGAGGAAGGGGAAGGGGAAGAGGAAG AAGAAGAGGA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	10/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13360265	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0003 a0003	a0003c0046 a0003c0046	a0003c0046t0002 a0003c0046t0002	a0003c0046t0002g0115 a0003c0046t0002g0115	1	86	0.0116	36	c.785 others(51): Show c.785-467_785-466insTATATATATATATATATATATATATATATA TATATA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	5/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13510035	A A	AAGGAAGG others(29): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01257.hp1 HG00438.hp1 HG01257.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0054 a0001c0001 a0003c0054	a0001c0001t0001 a0003c0054t0004 a0001c0001t0001 a0003c0054t0004	a0001c0001t0001g0126 a0003c0054t0004g0053 a0001c0001t0001g0126 a0003c0054t0004g0053	2	151	0.0132	36	c.-38 others(47): Show c.-3812_-3811insCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding					3557		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13510035	A A	AAGGAAGG others(29): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 NA20300.hp2 HG00544.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0016 a0004c0080 a0001c0016 a0004c0080	a0001c0016t0001 a0004c0080t0001 a0001c0016t0001 a0004c0080t0001	a0001c0016t0001g0047 a0004c0080t0001g0128 a0001c0016t0001g0047 a0004c0080t0001g0128	2	151	0.0132	36	c.-38 others(47): Show c.-3812_-3811insCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding					3557		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13510035	A A	AAGGAAGG others(29): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02809.hp1 HG03130.hp1 HG02109.hp1 HG02809.hp1 HG03130.hp1	a0001 a0003 a0021 a0001 a0003 a0021	a0001c0006 a0003c0105 a0021c0028 a0001c0006 a0003c0105 a0021c0028	a0001c0006t0001 a0003c0105t0006 a0021c0028t0002 a0001c0006t0001 a0003c0105t0006 a0021c0028t0002	a0001c0006t0001g0151 a0003c0105t0006g0143 a0021c0028t0002g0084 a0001c0006t0001g0151 a0003c0105t0006g0143 a0021c0028t0002g0084	3	152	0.0197	36	c.-38 others(47): Show c.-3812_-3811insCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTC CT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding					3557		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13510035	A A	AAGGAAGG others(29): Show AAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG03516.hp1 HG02451.hp1 HG03516.hp1	a0003 a0020 a0003 a0020	a0003c0013 a0020c0021 a0003c0013 a0020c0021	a0003c0013t0001 a0020c0021t0001 a0003c0013t0001 a0020c0021t0001	a0003c0013t0001g0150 a0020c0021t0001g0046 a0003c0013t0001g0150 a0020c0021t0001g0046	2	151	0.0132	36	c.-38 others(47): Show c.-3812_-3811insCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTC CT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding					3557		chr19	TogoVar
CACNA1C_chr12_2047987_2702950	2071172	C C	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0061 a0001c0002t0003g0061	1	23	0.0435	36	c.49+ others(53): Show c.49+17564_49+17565insCCCTCCCTCCCTCCCTCCCTCCCTTCCT GCCTGCCT		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2107224	T T	TGGGTGCT others(29): Show TGGGTGCTCACCCCGGGGAGGGTTTCCACTTCAGCTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03471.hp2 HG03540.hp2 HG02257.hp1 HG03471.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0013 a0001c0001 a0001c0002 a0002c0013	a0001c0001t0015 a0001c0002t0029 a0002c0013t0035 a0001c0001t0015 a0001c0002t0029 a0002c0013t0035	a0001c0001t0015g0035 a0001c0002t0029g0031 a0002c0013t0035g0019 a0001c0001t0015g0035 a0001c0002t0029g0031 a0002c0013t0035g0019	3	104	0.0288	36	c.50- others(51): Show c.50-7997_50-7996insTGCTCACCCCGGGGAGGGTTTCCACTTCAG CTGGGG		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1D_chr3_53489611_53818733	53801857	G G	GCCCATTA others(29): Show GCCCATTAAAATTTCCCTATGGTCACTGAAATTTGAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0033 a0001c0001t0070g0033	1	208	0.0048	36	c.546 others(53): Show c.5469-288_5469-253dupCCATTAAAATTTCCCTATGGTCACTGAA ATTTGAAC		CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	43/48					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53807070	T T	TTTCCCTC others(29): Show TTTCCCTCCTCCACCTGTGTTCTCAGCTGCAGGGGGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0067 a0001c0002t0025g0067	1	208	0.0048	36	c.581 others(55): Show c.5810-1567_5810-1532dupACCTGTGTTCTCAGCTGCAGGGGGAT TCCCTCCTCC		CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	46/48					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1I_chr22_39565753_39694735	39567241	A A	AGAGGGTG others(29): Show AGAGGGTGGAGGCTGGGTGGTCACTGGAAGCATGTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02257.hp1 HG02965.hp1 others(6): Show HG02055.hp1 HG02257.hp1 HG02965.hp1 HG02970.hp1 HG03098.hp1 HG03139.hp2 HG03225.hp2 HG03579.hp1 HG06807.hp2	a0001 a0005 a0010 others(1): Show a0001 a0005 a0010 a0021	a0001c0009 a0001c0034 a0005c0007 others(2): Show a0001c0009 a0001c0034 a0005c0007 a0010c0016 a0021c0052	a0001c0009t0003 a0001c0009t0007 a0001c0034t0028 others(5): Show a0001c0009t0003 a0001c0009t0007 a0001c0034t0028 a0005c0007t0006 a0010c0016t0005 a0010c0016t0015 a0010c0016t0055 a0021c0052t0011	a0001c0009t0003g0103 a0001c0009t0007g0104 a0001c0009t0007g0105 others(6): Show a0001c0009t0003g0103 a0001c0009t0007g0104 a0001c0009t0007g0105 a0001c0034t0028g0102 a0005c0007t0006g0112 a0010c0016t0005g0108 a0010c0016t0015g0111 a0010c0016t0055g0109 a0021c0052t0011g0110	9	234	0.0385	36	c.-35 others(47): Show c.-3512_-3511insGAGGGTGGAGGCTGGGTGGTCACTGGAAGCATGT CC		CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding					3511		chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39596286	G G	GGAGATGG others(29): Show GGAGATGGGGGGGCAGGGCGGAGAGAGATGGCGGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0069 a0001c0002t0011g0069	1	207	0.0048	36	c.237 others(53): Show c.237-1855_237-1854insGGCAGGGCGGAGAGAGATGGCGGAGAGA GATGGGGG		CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36					INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA2D1_chr7_81941444_82448777	82137707	T T	TAAAAAAA others(29): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	40	0.0250	36	c.355 others(53): Show c.355-1032_355-1031insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT		CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38						chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82217390	C C	CACATACA others(29): Show CACATACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0123 a0001c0001t0005g0123	1	133	0.0075	36	c.295 others(55): Show c.295-46782_295-46781insATATATATATATATATATATATATAT ATATGTATGT		CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38						chr7	TogoVar
CACNA2D3_chr3_54117552_55079557	54141086	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0105 a0001c0013t0001g0105	1	82	0.0122	36	c.204 others(55): Show c.204+17493_204+17494insTGTGTGTGTGTGTGCGCGCGCGCGCG CGCGCGCGCG		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54249558	T T	TACACACA others(29): Show TACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0095 a0001c0004t0001g0095	1	48	0.0208	36	c.205 others(55): Show c.205-70854_205-70853insACACACACACACACACACACACACAC ACACACACAC		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54478660	G G	GTGTATAT others(29): Show GTGTATATATATATATATTGCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	37	0.0270	36	c.382 others(55): Show c.382-24831_382-24830insGTATATATATATATATTGCTATATAT ATATATATAT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	4/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54478660	G G	GTGTATGT others(29): Show GTGTATGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03516.hp2 HG02572.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0037 a0001c0002t0002g0091 a0001c0001t0001g0037 a0001c0002t0002g0091	2	38	0.0526	36	c.382 others(55): Show c.382-24831_382-24830insGTATGTATATATATATATATATATAT ATATATATAT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	4/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54809311	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0076 a0001c0018t0001g0076	1	45	0.0222	36	c.138 others(55): Show c.1381-7524_1381-7523insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	13/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54822790	C C	CTTTCTTT others(29): Show CTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	64	0.0156	36	c.139 others(55): Show c.1398+5920_1398+5921insTTTCTTTCTTTCTTTTCTTTCTTTCT TTCTTTCTTT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37						chr3	TogoVar
CACNB2_chr10_18135424_18548557	18325689	C C	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01169.hp2 HG02451.hp2 others(1): Show HG01109.hp1 HG01169.hp2 HG02451.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0021 a0001c0002t0002 a0001c0001t0003 a0001c0001t0021 a0001c0002t0002	a0001c0001t0003g0094 a0001c0001t0003g0144 a0001c0001t0021g0126 others(1): Show a0001c0001t0003g0094 a0001c0001t0003g0144 a0001c0001t0021g0126 a0001c0002t0002g0060	4	158	0.0253	36	c.214 others(55): Show c.214-76232_214-76231insCCCTCCCTCCCTCCCTCCCTTCCTTC CTTCCTTCCT		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNG2_chr22_36555857_36708752	36679197	C C	CCTTCCTT others(29): Show CCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0200 a0001c0001t0090g0200	1	152	0.0066	36	c.211 others(55): Show c.211+23168_211+23169insAAAGAAAGAAAGAAAGAAAGAAAGGA AGGAAGGAAG		CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3						chr22	TogoVar
CACNG2_chr22_36555857_36708752	36703763	C C	CGCTCTCT others(29): Show CGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG02818.hp1 HG01175.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0156 a0001c0001t0008g0151 a0001c0001t0003g0156 a0001c0001t0008g0151	2	208	0.0096	36	c.-11 others(47): Show c.-1188_-1187insAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GC		CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding					12		chr22	TogoVar

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