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
C8orf82_chr8_144520733_144534111	144531242	C C	CAGGGCAG others(45): Show CAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGC AGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01123.hp2 others(3): Show HG01069.hp1 HG01071.hp1 HG01123.hp2 HG01261.hp2 HG01358.hp1 HG02293.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0014 a0001c0002t0002 a0001c0002t0014	a0001c0002t0002g0001 a0001c0002t0002g0005 a0001c0002t0002g0033 others(1): Show a0001c0002t0002g0001 a0001c0002t0002g0005 a0001c0002t0002g0033 a0001c0002t0014g0042	6	398	0.0151	52	c.-23 others(63): Show c.-2378_-2327dupTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTCGCTGCCCT	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2132		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531242	C C	CAGGGCAG others(45): Show CAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGGC AGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	398	0.0025	52	c.-23 others(63): Show c.-2327_-2326insTCTGCCGTGCCTGCTGTGTCCAGTCCACACCCCA CCTGCTGCTCCCTGCCCT	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2132		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531244	G G	GGGCAGGG others(45): Show GGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGGCAG AAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	398	0.0025	52	c.-23 others(63): Show c.-2329_-2328insTTTCTGCCGTGCCTGCTGTGTCCAGTCCACACCC CACCTGCTGCTCCCTGCC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2134		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531301	C C	CAGGGCAG others(45): Show CAGGGCAGCGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAAGCACAGC AGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 NA20300.hp1 HG03139.hp2 NA20300.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0010 a0002c0004t0003g0010	2	398	0.0050	52	c.-23 others(63): Show c.-2386_-2385insTCTGCTGTGCTTGCTGTGTCCAGTCCACACCCCA CCTGCTGCTCGCTGCCCT	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2191		chr8	TogoVar
CAB39L_chr13_49303650_49449064	49327479	T T	TTTTTAGT others(45): Show TTTTTAGTAGGGACTGGGTTTTGCCATGTTGGCCATGTTTAGTAGGGACT GGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0134 a0001c0001t0004g0134	1	324	0.0031	52	c.834 others(69): Show c.834+4467_834+4468insCCCAGTCCCTACTAAACATGGCCAACAT GGCAAAACCCAGTCCCTACTAAAA	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49441228	T T	TATATATA others(45): Show TATATATATATTATATATATATATATATAATATATATATATATATATTAT ATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG03130.hp1 others(1): Show HG02895.hp1 HG02897.hp2 HG03130.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0005t0004 a0001c0001t0001 a0001c0001t0004 a0001c0005t0004	a0001c0001t0001g0064 a0001c0001t0004g0062 a0001c0001t0004g0063 others(1): Show a0001c0001t0001g0064 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0005t0004g0065	4	324	0.0124	52	c.-24 others(71): Show c.-246+2757_-246+2758insTATATAATATATATATATATATATTA TATATATATATATATAATATATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	1/10			chr13	TogoVar
CABLES2_chr20_62383634_62412285	62406703	A A	ACCTCTGT others(45): Show ACCTCTGTCCAGGGCTGACAAGGCCCCAGGTGAACCCAACCCCTTTGTCC TGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02055.hp1 HG02965.hp1 others(3): Show HG01081.hp1 HG02055.hp1 HG02965.hp1 HG02970.hp2 HG03195.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0008 a0001c0001t0003 a0001c0004t0008	a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0004t0008g0033 others(1): Show a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0004t0008g0033 a0001c0004t0008g0034	6	400	0.0150	52	c.362 others(67): Show c.362+160_362+211dupCCAGGACAAAGGGGTTGGGTTCACCTGGGG CCTTGTCAGCCCTGGACAGAGG	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CACFD1_chr9_133454978_133475848	133460459	A A	AGGGCGGG others(45): Show AGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGGCGGGGGCGGGGGGGGCGG CGG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	420	0.0024	52	c.121 others(67): Show c.121+298_121+299insGGCGGCGGGGGCGGGGGGGGCGGCGGGGGC GGGGGGGCGGCGGGGGCGGGGG	CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACFD1_chr9_133454978_133475848	133460463	C C	CGGGGGGG others(45): Show CGGGGGGGCGGCGGGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGGCGGGG GCG	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	420	0.0024	52	c.121 others(67): Show c.121+298_121+299insGGCGGCGGGGGCGGGGGGGCGGCGGGGGCG GGGGGGGCGGCGGGGGCGGGGG	CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1A_chr19_13201442_13511479	13255713	C C	CTCCCTCC others(45): Show CTCCCTCCTTCTCTCCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCT CCT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0039 a0039	a0039c0083 a0039c0083	a0039c0083t0005 a0039c0083t0005	a0039c0083t0005g0168 a0039c0083t0005g0168	1	218	0.0046	52	c.459 others(69): Show c.4591-506_4591-455dupAGGAGGGAGGGAAGGAGGGAGGGAGGGA AGGAGGGAGGGAGAGAAGGAGGGA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	28/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13413884	A A	AAGAAAAG others(45): Show AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01934.hp1 HG01109.hp2 HG01934.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0109 a0001c0001 a0012c0109	a0001c0001t0004 a0012c0109t0008 a0001c0001t0004 a0012c0109t0008	a0001c0001t0004g0155 a0012c0109t0008g0036 a0001c0001t0004g0155 a0012c0109t0008g0036	2	218	0.0092	52	c.539 others(71): Show c.539+38991_539+38992insCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13413888	A A	AAGAAAAG others(45): Show AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0014 a0014	a0014c0120 a0014c0120	a0014c0120t0004 a0014c0120t0004	a0014c0120t0004g0066 a0014c0120t0004g0066	1	218	0.0046	52	c.539 others(71): Show c.539+38987_539+38988insCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1C_chr12_2047987_2702950	2059429	G G	GAAGCCGA others(45): Show GAAGCCGAGGGAACTAGAGGAAGGGTTCATCTGGCTGAAGCAGAGGGTGA GGA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0034 a0001c0001t0015g0034	1	104	0.0096	52	c.49+ others(67): Show c.49+5823_49+5874dupCGAGGGAACTAGAGGAAGGGTTCATCTGGC TGAAGCAGAGGGTGAGGAAAGC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2105977	G G	GGGCATCC others(45): Show GGGCATCCTGAAGCCACTGGGTGCTCACCCTGGAGAGGGTTTCCACCTCA GCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0024 a0001c0001t0013g0024	1	104	0.0096	52	c.50- others(67): Show c.50-9245_50-9244insCATCCTGAAGCCACTGGGTGCTCACCCTGG AGAGGGTTTCCACCTCAGCTGG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1H_chr16_1148106_1226768	1185607	G G	GGGCCGGG others(45): Show GGGCCGGGGGCGGGGTGTGTACGGGGCGGGTGAATAGACGGTCGGCATGC ATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02630.hp2 others(2): Show HG02451.hp2 HG02486.hp1 HG02630.hp2 HG02976.hp2 HG03209.hp2	a0002 a0014 a0015 a0002 a0014 a0015	a0002c0010 a0014c0026 a0015c0017 a0002c0010 a0014c0026 a0015c0017	a0002c0010t0001 a0014c0026t0003 a0015c0017t0003 a0002c0010t0001 a0014c0026t0003 a0015c0017t0003	a0002c0010t0001g0019 a0014c0026t0003g0109 a0015c0017t0003g0107 others(2): Show a0002c0010t0001g0019 a0014c0026t0003g0109 a0015c0017t0003g0107 a0015c0017t0003g0108 a0015c0017t0003g0119	5	338	0.0148	52	c.300 others(69): Show c.300-9363_300-9362insCCGGGGGCGGGGTGTGTACGGGGCGGGT GAATAGACGGTCGGCATGCATAGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185607	G G	GGGCCGGG others(45): Show GGGCCGGGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGC ATA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	338	0.0030	52	c.300 others(69): Show c.300-9363_300-9362insCCGGGGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGTCGGCATGCATAGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG2_chr22_36555857_36708752	36653450	A A	AGTGCCTC others(45): Show AGTGCCTCAGTTGGCTGGAGCTGACCGGGGGCTGCCCGGGCTGGGGCCTG TGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01516.hp2 HG01884.hp1 others(26): Show HG01192.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp2 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA19030.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 others(18): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0042 a0001c0001t0050 a0001c0001t0051 a0001c0001t0055 a0001c0001t0059 a0001c0001t0063 a0001c0001t0064 a0001c0001t0066 a0001c0001t0072 a0001c0001t0077 a0001c0001t0080 a0001c0001t0086 a0001c0001t0087 a0001c0001t0090	a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0035 others(26): Show a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0035 a0001c0001t0002g0047 a0001c0001t0008g0150 a0001c0001t0011g0102 a0001c0001t0011g0104 a0001c0001t0012g0146 a0001c0001t0012g0173 a0001c0001t0018g0028 a0001c0001t0018g0036 a0001c0001t0020g0100 a0001c0001t0020g0101 a0001c0001t0022g0129 a0001c0001t0022g0132 a0001c0001t0042g0006 a0001c0001t0050g0096 a0001c0001t0051g0095 a0001c0001t0055g0106 a0001c0001t0059g0109 a0001c0001t0063g0116 a0001c0001t0064g0128 a0001c0001t0066g0133 a0001c0001t0072g0148 a0001c0001t0077g0140 a0001c0001t0080g0147 a0001c0001t0086g0195 a0001c0001t0087g0186 a0001c0001t0090g0194	29	214	0.1355	52	c.211 others(71): Show c.211+48864_211+48915dupACACAGGCCCCAGCCCGGGCAGCCCC CGGTCAGCTCCAGCCAACTGAGGCAC	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36653486	C C	CGGGCTGG others(45): Show CGGGCTGGGGCCTGTGTGTGCCTCAGTTGGCTGGAGCTGACCGGGGGCTG CCT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02976.hp2 HG03453.hp2 others(1): Show HG02970.hp1 HG02976.hp2 HG03453.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0045 a0001c0001t0046 others(1): Show a0001c0001t0041 a0001c0001t0045 a0001c0001t0046 a0001c0001t0097	a0001c0001t0041g0010 a0001c0001t0045g0027 a0001c0001t0046g0011 others(1): Show a0001c0001t0041g0010 a0001c0001t0045g0027 a0001c0001t0046g0011 a0001c0001t0097g0199	4	214	0.0187	52	c.211 others(71): Show c.211+48879_211+48880insAGGCAGCCCCCGGTCAGCTCCAGCCA ACTGAGGCACACACAGGCCCCAGCCC	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36653499	G G	GTGTGTGC others(45): Show GTGTGTGCCTCAGTTGGCTGGAGCTGACCGGGGGCTGCCCGGGCTGGGGC CTA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0200 a0001c0001t0098g0200	1	214	0.0047	52	c.211 others(71): Show c.211+48866_211+48867insTAGGCCCCAGCCCGGGCAGCCCCCGG TCAGCTCCAGCCAACTGAGGCACACA	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAAAA others(45): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	430	0.0023	52	c.545 others(67): Show c.545-745_545-744insAAAAAAAAAAAAAAAAAATATATATATATA TATATATATATATATATATATA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53920028	C C	CTTGCCCC others(45): Show CTTGCCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTG GAG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	364	0.0028	52	c.424 others(69): Show c.424+4548_424+4549insGTTGCCCCAGGCTGGTCATTGGTGGAGT TGCCCCAGGCTGGTCATTGGTGGA	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53920865	T T	TCTGGTAT others(45): Show TCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGCCCC AGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0316 a0001c0001t0002g0316	1	364	0.0028	52	c.424 others(69): Show c.424+5365_424+5366insATTGGTGGAGTTGCCCCAGGTCTGGTCA TTGGTGGAGTTGCCCCAGGCTGGT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CADM2_chr3_84953989_86079429	85431860	C C	CATATATA others(45): Show CATATATATATATATATATATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp1 NA18989.hp2 HG01884.hp1 HG02280.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0009g0037 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0009g0037	3	146	0.0206	52	c.62- others(71): Show c.62-294650_62-294649insATATATATATATATATATATATATAT ATATATATATATATATATATATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85431860	C C	CATATGTA others(45): Show CATATGTATATATATATATATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG04204.hp2 HG03239.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0099 a0001c0001t0001g0070 a0001c0001t0001g0099	2	146	0.0137	52	c.62- others(71): Show c.62-294658_62-294657insGTATATATATATATATATATATATAT ATATATATATATATATATATATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADPS2_chr7_122313411_122891460	122705879	A A	AATAAATA others(45): Show AATAAATATAATATAATATAATATATAATATAATATATAATATATAATAT AAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02970.hp1 HG03130.hp1 others(3): Show HG02965.hp2 HG02970.hp1 HG03130.hp1 HG03486.hp2 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0066 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0096 a0001c0001t0002g0006	6	126	0.0476	52	c.453 others(71): Show c.453+31075_453+31076insATTATATTATATATTATATATTATAT TATATATTATATTATATTATATTTAT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	2/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122705879	A A	AATAAATA others(45): Show AATAAATATAATATAATATAATATATAATATAATATATATTATATAATAT AAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0086 a0001c0002t0007g0086	1	126	0.0079	52	c.453 others(71): Show c.453+31075_453+31076insATTATATTATATAATATATATTATAT TATATATTATATTATATTATATTTAT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	2/29			chr7	TogoVar
CADPS_chr3_62393348_62880416	62446932	T T	TCATGCCA others(45): Show TCATGCCATTTGCTGAGATCAATATTAGGAATCAAACATCTCAGCCAGGC TCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	160	0.0063	52	c.363 others(71): Show c.3637-1136_3637-1135insGGAGCCTGGCTGAGATGTTTGATTCC TAATATTGATCTCAGCAAATGGCATG	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	26/29			chr3	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(45): Show CACACACATATATGTATGTGTATATATACACACACATATACACACACGTG TGT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03540.hp1 HG01255.hp2 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0253 a0002c0002t0004g0254 a0002c0002t0004g0253 a0002c0002t0004g0254	2	262	0.0076	52	c.218 others(67): Show c.218+721_218+722insACACACATATATGTATGTGTATATATACAC ACACATATACACACACGTGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALN1_chr7_71774491_72417338	72106698	G G	GAGGAAGG others(45): Show GAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGA GGA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	142	0.0070	52	c.245 others(67): Show c.245-405_245-404insTCCTCCCTCCCTTCCTTCCTCCCTCCCTTC CTTCCTCCCTCCCTTCCTTCCT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAAAA others(45): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0002 a0001c0001t0023g0002	1	142	0.0070	52	c.244 others(69): Show c.244+7110_244+7111insATATATATATATATATATATATATATTT TTTTTTTTTTTTTTTTTTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72338527	G G	GTGTGTGT others(45): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	142	0.0070	52	c.120 others(71): Show c.120-59718_120-59717insGACACACACACACACACACACACACA CACACACACACACACACACACACACA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	2/6			chr7	TogoVar
CAMKMT_chr2_44356947_44777592	44588872	T T	TGGGGGGG others(45): Show TGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03209.hp2 HG00738.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0183 a0001c0001t0002g0044 a0001c0001t0001g0183 a0001c0001t0002g0044	2	198	0.0101	52	c.377 others(73): Show c.377-115405_377-115404insGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMLG_chr5_134733548_134757157	134749981	A A	AGGGGGGG others(45): Show AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGATGGGAG GGG	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0068 a0002c0002t0001g0068	1	366	0.0027	52	c.700 others(67): Show c.700-776_700-775insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGTGATGGGAGGGGGG	CAMLG	ENSG00000164615.6	transcript	ENST00000297156.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAPN13_chr2_30717771_30812446	30796146	A A	ATATATAT others(45): Show ATATATATATATACATATATATGTGTGTATATATATATACATATATATGT GTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02897.hp1 HG03098.hp1 others(3): Show HG02622.hp2 HG02897.hp1 HG03098.hp1 HG03471.hp1 NA19030.hp2 NA20300.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0014c0011 a0001c0001 a0014c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0014c0011t0002	a0001c0001t0001g0090 a0001c0001t0002g0061 a0001c0001t0002g0068 others(3): Show a0001c0001t0001g0090 a0001c0001t0002g0061 a0001c0001t0002g0068 a0001c0001t0002g0115 a0001c0001t0008g0078 a0014c0011t0002g0131	6	384	0.0156	52	c.-32 others(69): Show c.-32-8841_-32-8790dupCACACATATATATGTATATATATATACA CACATATATATGTATATATATATA	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30796185	C C	CATATATA others(45): Show CATATATATACATATATATGTGTGTGTATATATATATACACACATATATA TGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	384	0.0026	52	c.-32 others(69): Show c.-32-8829_-32-8828insACATATATATGTGTGTATATATATATAC ACACACATATATATGTATATATAT	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30796186	A A	ACATATAT others(45): Show ACATATATATACATATATATGTGTGTGTATATATATATATACACATATAT ATG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0242 a0001c0001t0005g0242	1	384	0.0026	52	c.-32 others(69): Show c.-32-8830_-32-8829insCATATATATGTGTATATATATATATACA CACACATATATATGTATATATATG	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30800122	A A	AAGAAAGA others(45): Show AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAG	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0261 a0003c0004t0002g0261	1	384	0.0026	52	c.-33 others(69): Show c.-33+7179_-33+7180insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTTTCTTTCTTTCTTTCT	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN15_chr16_522712_559636	550778	T T	TCCCCGGT others(45): Show TCCCCGGTCGGTGAGGGCGCCCCGCCGGTGAGGGTCCCCGGTCGGTGAGG GCG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0389 a0001c0001t0001g0389	1	410	0.0024	52	c.206 others(69): Show c.2067-521_2067-520insCGGTCGGTGAGGGCGCCCCGCCGGTGAG GGTCCCCGGTCGGTGAGGGCGCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPZB_chr1_19333775_19490539	19366283	A A	AATATATA others(45): Show AATATATATATATATATATATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	364	0.0028	52	c.330 others(69): Show c.330-8721_330-8720insATATATATATATATATATATATATATAT ATATATATATATATATATATATAT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	4/8			chr1	TogoVar
CARF_chr2_202907275_202993263	202986883	T T	TATACGTA others(45): Show TATACGTATATATATATATATATATATACATATATATATATATATATATA TAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0107 a0006c0010t0107	a0006c0010t0107g0026 a0006c0010t0107g0026	1	334	0.0030	52	c.32 others(63): Show c.3262_*3263insCGTATATATATATATATATATATACATATATATA TATATATATATATACATA	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	17/17	3263	INFO_REALIGN_3_PRIME	chr2	TogoVar
CARF_chr2_202907275_202993263	202986885	T T	TATATACA others(45): Show TATATACATATATATATACATATATATATATATACATATATATATATATA TAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp1 HG03831.hp2 NA18995.hp1 HG02486.hp1 HG03831.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0047 a0001c0001t0025g0074 a0001c0001t0025g0091 a0001c0001t0025g0047 a0001c0001t0025g0074 a0001c0001t0025g0091	3	334	0.0090	52	c.32 others(63): Show c.3266_*3267insCATATATATATACATATATATATATATACATATA TATATATATATACATATA	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	17/17	3267	INFO_REALIGN_3_PRIME	chr2	TogoVar
CARF_chr2_202907275_202993263	202986885	T T	TATATACA others(45): Show TATATACATATATATATACATATATATATATATATACATATATATATATA TAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp2 HG02602.hp1 HG03704.hp2 others(3): Show HG00597.hp2 HG02602.hp1 HG03704.hp2 NA18998.hp1 NA19057.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0072 a0001c0001t0014 a0001c0001t0072	a0001c0001t0014g0073 a0001c0001t0014g0102 a0001c0001t0014g0103 others(3): Show a0001c0001t0014g0073 a0001c0001t0014g0102 a0001c0001t0014g0103 a0001c0001t0014g0104 a0001c0001t0014g0113 a0001c0001t0072g0119	6	334	0.0180	52	c.32 others(63): Show c.3266_*3267insCATATATATATACATATATATATATATATACATA TATATATATATACATATA	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	17/17	3267	INFO_REALIGN_3_PRIME	chr2	TogoVar
CARF_chr2_202907275_202993263	202986887	T T	TATACATA others(45): Show TATACATATATATATACATATATATATATATACACATATATATATATATA TAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0032 a0001c0001t0065g0032	1	334	0.0030	52	c.32 others(63): Show c.3266_*3267insCATATATATATACATATATATATATATACACATA TATATATATATATACATA	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	17/17	3267	INFO_REALIGN_3_PRIME	chr2	TogoVar
CARF_chr2_202907275_202993263	202986887	T T	TATACATA others(45): Show TATACATATATATATACATATATATATATATATACATATATATATATATA TAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp2 HG01099.hp1 HG01255.hp2 others(21): Show HG00609.hp2 HG01099.hp1 HG01255.hp2 HG02895.hp2 HG03834.hp2 HG03942.hp2 NA18939.hp1 NA18945.hp2 NA18946.hp2 NA18970.hp2 NA18974.hp1 NA18980.hp2 NA18984.hp2 NA18986.hp1 NA18994.hp2 NA18999.hp1 NA19003.hp1 NA19004.hp2 NA19030.hp1 NA19078.hp1 NA19083.hp2 NA19084.hp1 NA19091.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0061 a0001c0005t0092 a0001c0001t0002 a0001c0001t0061 a0001c0005t0092	a0001c0001t0002g0005 a0001c0001t0002g0036 a0001c0001t0002g0082 others(20): Show a0001c0001t0002g0005 a0001c0001t0002g0036 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0121 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0061g0223 a0001c0005t0092g0146	24	334	0.0719	52	c.32 others(63): Show c.3266_*3267insCATATATATATACATATATATATATATATACATA TATATATATATATACATA	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	17/17	3267	INFO_REALIGN_3_PRIME	chr2	TogoVar
CARF_chr2_202907275_202993263	202986887	T T	TATATACA others(45): Show TATATACATATATATATACATATATATATATATATACATATATATATATA TAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0071 a0001c0001t0079g0071	1	334	0.0030	52	c.32 others(63): Show c.3268_*3269insCATATATATATACATATATATATATATATACATA TATATATATATACATATA	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	17/17	3269	INFO_REALIGN_3_PRIME	chr2	TogoVar
CARMIL1_chr6_25274374_25625530	25313683	G G	GCATATAT others(45): Show GCATATATATATATATATATATATATATATATATATATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp1 NA18945.hp2 others(1): Show HG01081.hp2 HG01106.hp1 NA18945.hp2 NA18950.hp2	a0001 a0005 a0001 a0005	a0001c0003 a0001c0004 a0001c0018 others(1): Show a0001c0003 a0001c0004 a0001c0018 a0005c0019	a0001c0003t0002 a0001c0004t0002 a0001c0018t0001 others(1): Show a0001c0003t0002 a0001c0004t0002 a0001c0018t0001 a0005c0019t0001	a0001c0003t0002g0052 a0001c0004t0002g0015 a0001c0018t0001g0094 others(1): Show a0001c0003t0002g0052 a0001c0004t0002g0015 a0001c0018t0001g0094 a0005c0019t0001g0034	4	186	0.0215	52	c.138 others(71): Show c.138+28774_138+28775insCATATATATATATATATATATATATA TATATATATATATATATATATATATA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36			chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25450980	T T	TCCTCTCC others(45): Show TCCTCTCCTCTCCTCTCTTCTCTTCTCCTCTCCCCTCTCCCCTCTCCCCT CTC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA19007.hp1 NA18943.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0080 a0001c0001t0005g0095 a0001c0001t0001g0080 a0001c0001t0005g0095	2	186	0.0108	52	c.614 others(67): Show c.614+271_614+272insTCTCCTCTCCTCTCTTCTCTTCTCCTCTCC CCTCTCCCCTCTCCCCTCTCCC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459210	T T	TTTTCTTT others(45): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0010 a0002c0013t0010	a0002c0013t0010g0047 a0002c0013t0010g0047	1	186	0.0054	52	c.615 others(69): Show c.615-6655_615-6604dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARS1_chr11_2995929_3062423	3031996	T T	TTCCTTCC others(45): Show TTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	321	0.0031	52	c.802 others(69): Show c.802-2554_802-2553insGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAAGGAAGGAAGGA	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	7/22			chr11	TogoVar
CARS2_chr13_110636417_110711116	110677538	T T	TCAGACAG others(45): Show TCAGACAGCCACCCCGCCACGGAAACCCAGACAGCCACCCTGCCACGGAA ACC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02486.hp1 HG02572.hp1 others(7): Show HG01074.hp1 HG02486.hp1 HG02572.hp1 HG02647.hp2 HG02723.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG03195.hp1 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0001 a0001c0009t0002 a0001c0003t0001 a0001c0009t0002	a0001c0003t0001g0018 a0001c0003t0001g0233 a0001c0003t0001g0246 others(6): Show a0001c0003t0001g0018 a0001c0003t0001g0233 a0001c0003t0001g0246 a0001c0003t0001g0248 a0001c0003t0001g0249 a0001c0003t0001g0250 a0001c0009t0002g0279 a0001c0009t0002g0280 a0001c0009t0002g0281	10	372	0.0269	52	c.656 others(67): Show c.656-436_656-435insGGTTTCCGTGGCAGGGTGGCTGTCTGGGTT TCCGTGGCGGGGTGGCTGTCTG	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14			chr13	TogoVar

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