JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
C4orf3_chr4_119291419_119305645	119305422	CTTATACA others(10): Show CTTATACATGTACATGTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG02074.hp2 HG00673.hp1 HG02074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0003 a0001c0003t0003g0003	2	424	0.0047	-17	c.-49 others(28): Show c.-4904_-4888delTACATGTACATGTATAA	C4orf3	ENSG00000164096.13	transcript	ENST00000504110.2	protein_coding		4778		chr4	TogoVar
C4orf45_chr4_158888134_159040229	158911367	TAAATAAA others(10): Show TAAATAAATAAATAAATA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	264	0.0038	-17	c.546 others(34): Show c.546+3786_546+3802delTATTTATTTATTTATTT	C4orf45	ENSG00000164123.7	transcript	ENST00000434826.3	protein_coding	4/4			chr4	TogoVar
C4orf45_chr4_158888134_159040229	159024172	ATAAATGA others(10): Show ATAAATGATTTGACCAAC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0251 a0001c0002t0001g0251	1	264	0.0038	-17	c.64+ others(34): Show c.64+10844_64+10860delGTTGGTCAAATCATTTA	C4orf45	ENSG00000164123.7	transcript	ENST00000434826.3	protein_coding	1/4			chr4	TogoVar
C4orf47_chr4_185421254_185454826	185426879	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0316 a0002c0002t0001g0316	1	358	0.0028	-17	c.-79 others(32): Show c.-79+503_-79+519delAAAAAAAAAAAAAAAAA	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf47_chr4_185421254_185454826	185443921	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01433.hp2 HG01934.hp1 others(18): Show HG00642.hp1 HG01433.hp2 HG01934.hp1 HG01975.hp2 HG02572.hp1 HG02622.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG04184.hp2 NA18906.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0270 a0001c0001t0003g0230 a0001c0001t0004g0018 others(16): Show a0001c0001t0001g0270 a0001c0001t0003g0230 a0001c0001t0004g0018 a0001c0001t0004g0031 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0110 a0001c0001t0004g0111 a0001c0001t0004g0222 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0231 a0001c0001t0004g0232 a0002c0002t0001g0047 a0002c0002t0001g0083 a0002c0002t0001g0243	21	358	0.0587	-17	c.715 others(34): Show c.715-1016_715-1000delTTTTTTTTTTTTTTTTT	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
C5AR2_chr19_47327175_47352329	47336419	TCTTTCTT others(10): Show TCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0228 a0001c0001t0003g0228	1	406	0.0025	-17	c.-16 others(34): Show c.-16+4074_-16+4090delTCTTTCTTTCTTTCCTT	C5AR2	ENSG00000134830.6	transcript	ENST00000595464.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr19	TogoVar
C5orf34_chr5_43481709_43520148	43512760	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02738.hp1 HG03195.hp2 others(1): Show HG01952.hp2 HG02738.hp1 HG03195.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0002t0002g0025 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0002t0002g0025	4	340	0.0118	-17	c.-37 others(34): Show c.-37+2029_-37+2045delAAAAAAAAAAAAAAAAA	C5orf34	ENSG00000172244.9	transcript	ENST00000306862.7	protein_coding	1/12			chr5	TogoVar
C6orf89_chr6_36880952_36933964	36882717	TTTTTTTT others(10): Show TTTTTTTTTTCTTTTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG02071.hp1 NA18747.hp2 others(1): Show HG00544.hp2 HG02071.hp1 NA18747.hp2 NA18973.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0031 a0001c0002t0018 a0001c0002t0031	a0001c0002t0018g0013 a0001c0002t0031g0187 a0001c0002t0018g0013 a0001c0002t0031g0187	4	396	0.0101	-17	c.-34 others(28): Show c.-3430_-3414delTTTTTTTTTCTTTTTTC	C6orf89	ENSG00000198663.17	transcript	ENST00000480824.7	protein_coding		3234		chr6	TogoVar
C6orf89_chr6_36880952_36933964	36901321	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0071 a0001c0002t0049g0071	1	396	0.0025	-17	c.190 others(32): Show c.190-885_190-869delTTTTTTTTTTTTTTTTT	C6orf89	ENSG00000198663.17	transcript	ENST00000480824.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
C7_chr5_40904497_40989643	40968557	TTATATAT others(10): Show TTATATATATTTTATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp2 HG00621.hp2 others(38): Show HG00099.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp2 HG01069.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01934.hp2 HG01978.hp1 HG02040.hp1 HG02056.hp1 HG02129.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp2 HG03225.hp2 HG03490.hp1 HG03492.hp1 HG03710.hp2 NA18939.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18963.hp1 NA18964.hp1 NA18968.hp2 NA18977.hp2 NA18990.hp1 NA18991.hp2 NA18994.hp1 NA19001.hp1 NA19007.hp1 NA19056.hp1 NA19059.hp1 NA19064.hp1 NA19074.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0009 a0010 a0015 a0020	a0001c0001 a0002c0002 a0004c0004 others(4): Show a0001c0001 a0002c0002 a0004c0004 a0009c0010 a0010c0009 a0015c0020 a0020c0017	a0001c0001t0002 a0001c0001t0032 a0002c0002t0002 others(6): Show a0001c0001t0002 a0001c0001t0032 a0002c0002t0002 a0002c0002t0016 a0004c0004t0002 a0009c0010t0002 a0010c0009t0002 a0015c0020t0002 a0020c0017t0002	a0001c0001t0002g0225 a0001c0001t0002g0244 a0001c0001t0002g0245 others(38): Show a0001c0001t0002g0225 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0032g0004 a0002c0002t0002g0085 a0002c0002t0002g0092 a0002c0002t0002g0118 a0002c0002t0002g0126 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0135 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0187 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0016g0114 a0002c0002t0016g0115 a0004c0004t0002g0020 a0004c0004t0002g0023 a0004c0004t0002g0024 a0004c0004t0002g0026 a0004c0004t0002g0027 a0004c0004t0002g0292 a0004c0004t0002g0302 a0004c0004t0002g0313 a0004c0004t0002g0314 a0009c0010t0002g0066 a0009c0010t0002g0121 a0009c0010t0002g0122 a0010c0009t0002g0322 a0015c0020t0002g0212 a0020c0017t0002g0120	41	380	0.1079	-17	c.188 others(36): Show c.1882+3694_1882+3710delTTTATATATATATATAT	C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
C7_chr5_40904497_40989643	40968586	ATATATAT others(10): Show ATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0264 a0001c0001t0003g0264	1	380	0.0026	-17	c.188 others(36): Show c.1882+3715_1882+3731delATATATATATATATTTT	C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
C7orf50_chr7_992006_1143247	1002547	GGGTGAGT others(10): Show GGGTGAGTGGAGTCCTGC	G G	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	326	0.0031	-17	c.324 others(34): Show c.324-2013_324-1997delGCAGGACTCCACTCACC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	3/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1014788	GCCGGCCA others(10): Show GCCGGCCACGGCAGCGAT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	326	0.0031	-17	c.130 others(34): Show c.130-4662_130-4646delATCGCTGCCGTGGCCGG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1016842	CCAGCACA others(10): Show CCAGCACACAGCAGCACA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00733.hp1 others(36): Show HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01928.hp1 HG01943.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02273.hp1 HG02630.hp2 HG02698.hp2 HG02922.hp2 HG03239.hp1 HG03491.hp2 HG03704.hp1 HG03927.hp1 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18955.hp1 NA18961.hp1 NA18965.hp2 NA18994.hp2 NA19004.hp1 NA19054.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0001 a0008c0009 a0009c0003 a0001c0001 a0008c0009 a0009c0003	a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 others(3): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0008c0009t0006 a0009c0003t0011	a0001c0001t0006g0030 a0001c0001t0006g0064 a0001c0001t0006g0081 others(36): Show a0001c0001t0006g0030 a0001c0001t0006g0064 a0001c0001t0006g0081 a0001c0001t0006g0085 a0001c0001t0006g0087 a0001c0001t0006g0088 a0001c0001t0006g0089 a0001c0001t0006g0090 a0001c0001t0006g0091 a0001c0001t0006g0092 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0006g0103 a0001c0001t0009g0117 a0001c0001t0009g0128 a0001c0001t0009g0131 a0001c0001t0009g0133 a0001c0001t0009g0139 a0001c0001t0009g0140 a0001c0001t0009g0141 a0001c0001t0009g0142 a0001c0001t0009g0143 a0001c0001t0009g0147 a0001c0001t0009g0148 a0001c0001t0011g0206 a0001c0001t0011g0207 a0001c0001t0011g0226 a0001c0001t0011g0261 a0001c0001t0011g0276 a0001c0001t0011g0277 a0001c0001t0011g0309 a0001c0001t0011g0311 a0001c0001t0017g0084 a0001c0001t0017g0096 a0008c0009t0006g0003 a0009c0003t0011g0274	39	326	0.1196	-17	c.130 others(34): Show c.130-6716_130-6700delTGTGCTGCTGTGTGCTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1023623	AAACACAC others(10): Show AAACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0103 a0001c0001t0006g0103	1	326	0.0031	-17	c.130 others(36): Show c.130-13497_130-13481delGTGTGTGTGTGTGTGTT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1059866	TGTAGTGG others(10): Show TGTAGTGGGGCGGGTCCG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01074.hp1 others(40): Show HG00642.hp2 HG00738.hp2 HG01074.hp1 HG01123.hp1 HG01255.hp1 HG01361.hp2 HG02071.hp1 HG02109.hp2 HG02257.hp1 HG02559.hp1 HG02698.hp1 HG02698.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03130.hp2 HG03225.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp2 HG03704.hp1 HG04204.hp1 HG04204.hp2 NA18906.hp2 NA18943.hp2 NA18948.hp1 NA18959.hp2 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18975.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA19000.hp1 NA19007.hp1 NA19043.hp1 NA19056.hp1 NA19064.hp2 NA19082.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0004 a0005c0007 a0001c0001 a0003c0004 a0005c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0025 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0003c0004t0002 a0005c0007t0008	a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0214 others(40): Show a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0286 a0001c0001t0002g0318 a0001c0001t0003g0213 a0001c0001t0003g0263 a0001c0001t0005g0204 a0001c0001t0007g0159 a0001c0001t0007g0160 a0001c0001t0007g0161 a0001c0001t0007g0162 a0001c0001t0007g0163 a0001c0001t0008g0152 a0001c0001t0008g0153 a0001c0001t0008g0154 a0001c0001t0008g0155 a0001c0001t0008g0156 a0001c0001t0011g0206 a0001c0001t0011g0207 a0001c0001t0011g0226 a0001c0001t0014g0158 a0001c0001t0014g0172 a0001c0001t0014g0173 a0001c0001t0014g0174 a0001c0001t0015g0225 a0001c0001t0025g0165 a0001c0001t0027g0193 a0001c0001t0029g0224 a0001c0001t0030g0326 a0003c0004t0002g0230 a0005c0007t0008g0164	43	326	0.1319	-17	c.130 others(36): Show c.130-49740_130-49724delCGGACCCGCCCCACTAC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf57_chr7_48030543_48066297	48051798	CCTTCCTT others(10): Show CCTTCCTTCCTTTTCTCT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0265 a0002c0001t0001g0265	1	404	0.0025	-17	c.606 others(32): Show c.606-901_606-885delCTTCCTTCCTTTTCTCT	C7orf57	ENSG00000164746.14	transcript	ENST00000348904.4	protein_coding	6/8			chr7	TogoVar
C8B_chr1_56924207_56971015	56957940	TCTGACAG others(10): Show TCTGACAGGTGTGAAGAA	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	402	0.0025	-17	c.250 others(34): Show c.250-1047_250-1031delTTCTTCACACCTGTCAG	C8B	ENSG00000021852.14	transcript	ENST00000371237.9	protein_coding	2/11			chr1	TogoVar
C8orf33_chr8_145047467_145061030	145052301	CCGCCCGC others(10): Show CCGCCCGCGCCCCGCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19059.hp1 homoSapiens_chm13v2.hp1 NA19007.hp1 NA19059.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0025 a0001c0001t0002 a0001c0001t0025	a0001c0001t0002g0001 a0001c0001t0025g0001 a0001c0001t0002g0001 a0001c0001t0025g0001	3	406	0.0074	-17	c.-19 others(26): Show c.-190_-174delCGCCCGCGCCCCGCCCG	C8orf33	ENSG00000182307.14	transcript	ENST00000331434.7	protein_coding		165		chr8	TogoVar
C8orf34_chr8_68325955_68824023	68588390	AGGAATAT others(10): Show AGGAATATGCATTAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02886.hp1 HG03195.hp2 HG02258.hp2 HG02886.hp1 HG03195.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0005 a0004c0018 a0001c0001 a0001c0005 a0004c0018	a0001c0001t0004 a0001c0005t0001 a0004c0018t0007 a0001c0001t0004 a0001c0005t0001 a0004c0018t0007	a0001c0001t0004g0111 a0001c0005t0001g0043 a0004c0018t0007g0126 a0001c0001t0004g0111 a0001c0005t0001g0043 a0004c0018t0007g0126	3	128	0.0234	-17	c.110 others(38): Show c.1106-51985_1106-51969delGGAATATGCATTAAAAT	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	7/13			chr8	TogoVar
C8orf74_chr8_10667628_10705590	10696426	CTTTTCTT others(10): Show CTTTTCTTTTCTTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0038 a0002c0003t0002g0038	1	430	0.0023	-17	c.242 others(34): Show c.242-1168_242-1152delCTTTTCTTTTCTTTTTT	C8orf74	ENSG00000171060.11	transcript	ENST00000304519.10	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
C9orf152_chr9_110194561_110213159	110198893	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(69): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00735.hp1 HG01099.hp1 HG01123.hp2 HG01169.hp2 HG01257.hp1 HG01258.hp2 HG01516.hp1 HG01517.hp2 HG01928.hp2 HG02040.hp1 HG02071.hp2 HG02074.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02602.hp1 HG02698.hp1 HG02738.hp1 HG03239.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG04228.hp2 NA18612.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18964.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18982.hp2 NA18983.hp2 NA18987.hp1 NA18990.hp2 NA18992.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp2 NA19005.hp1 NA19007.hp2 NA19012.hp1 NA19059.hp2 NA19067.hp1 NA19068.hp1 NA19078.hp2 NA19090.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0007 a0001c0001 a0001c0002 a0003c0007	a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 others(5): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 a0001c0002t0005 a0001c0002t0009 a0001c0002t0028 a0001c0002t0055 a0003c0007t0008	a0001c0001t0001g0042 a0001c0001t0008g0009 a0001c0001t0008g0017 others(21): Show a0001c0001t0001g0042 a0001c0001t0008g0009 a0001c0001t0008g0017 a0001c0001t0008g0081 a0001c0001t0012g0018 a0001c0001t0012g0041 a0001c0002t0005g0006 a0001c0002t0005g0015 a0001c0002t0005g0030 a0001c0002t0005g0054 a0001c0002t0005g0058 a0001c0002t0005g0163 a0001c0002t0005g0170 a0001c0002t0005g0175 a0001c0002t0005g0176 a0001c0002t0005g0179 a0001c0002t0005g0180 a0001c0002t0009g0025 a0001c0002t0009g0028 a0001c0002t0009g0083 a0001c0002t0009g0105 a0001c0002t0028g0070 a0001c0002t0055g0166 a0003c0007t0008g0080	72	466	0.1545	-17	c.20 others(28): Show c.2038_*2054delTTTTTTTTTTTTTTTTT	C9orf152	ENSG00000188959.10	transcript	ENST00000400613.5	protein_coding		667		chr9	TogoVar
C9orf43_chr9_113405747_113434690	113408496	TGCAGATC others(10): Show TGCAGATCAAAAACCATC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	310	0.0032	-17	c.-25 others(28): Show c.-2554_-2538delGCAGATCAAAAACCATC	C9orf43	ENSG00000157653.12	transcript	ENST00000374165.6	protein_coding		2250		chr9	TogoVar
CA10_chr17_51625320_52163714	52025647	ATGATAAA others(10): Show ATGATAAAATCAGGACAC	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	156	0.0064	-17	c.136 others(36): Show c.136+46655_136+46671delGTGTCCTGATTTTATCA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	2/8			chr17	TogoVar
CA11_chr19_48632946_48651187	48648992	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	392	0.0026	-17	c.-33 others(28): Show c.-3377_-3361delTTTTTTTTTTTTTTTTT	CA11	ENSG00000063180.9	transcript	ENST00000084798.9	protein_coding		2806		chr19	TogoVar
CA6_chr1_8940868_8980092	8947749	AGTGCCCT others(10): Show AGTGCCCTGGGCCAAAGC	A A	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0013 a0001c0006t0013	a0001c0006t0013g0331 a0001c0006t0013g0331	1	452	0.0022	-17	c.80- others(32): Show c.80-1513_80-1497delGTGCCCTGGGCCAAAGC	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	1/7			chr1	TogoVar
CA6_chr1_8940868_8980092	8973760	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0225 a0004c0008t0001g0225	1	452	0.0022	-17	c.845 others(32): Show c.845-859_845-843delTCTTTCTTTCTTTCTTT	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CA6_chr1_8940868_8980092	8978636	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG02257.hp1 HG02451.hp2 others(12): Show HG00438.hp1 HG02257.hp1 HG02451.hp2 HG02622.hp2 HG02965.hp2 HG03491.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18961.hp1 NA18987.hp2 NA19005.hp1 NA19066.hp1 NA19085.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0006 a0007 a0011 a0012	a0001c0002 a0002c0001 a0004c0008 others(5): Show a0001c0002 a0002c0001 a0004c0008 a0005c0005 a0006c0004 a0007c0007 a0011c0019 a0012c0024	a0001c0002t0001 a0002c0001t0001 a0004c0008t0001 others(6): Show a0001c0002t0001 a0002c0001t0001 a0004c0008t0001 a0004c0008t0003 a0005c0005t0001 a0006c0004t0001 a0007c0007t0001 a0011c0019t0006 a0012c0024t0006	a0001c0002t0001g0367 a0001c0002t0001g0388 a0002c0001t0001g0286 others(12): Show a0001c0002t0001g0367 a0001c0002t0001g0388 a0002c0001t0001g0286 a0002c0001t0001g0295 a0004c0008t0001g0007 a0004c0008t0003g0216 a0004c0008t0003g0217 a0005c0005t0001g0106 a0005c0005t0001g0117 a0006c0004t0001g0142 a0007c0007t0001g0146 a0007c0007t0001g0153 a0011c0019t0006g0424 a0011c0019t0006g0425 a0012c0024t0006g0422	15	452	0.0332	-17	c.39 others(28): Show c.3933_*3949delAAAAAAAAAAAAAAAAA	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding		3545		chr1	TogoVar
CA9_chr9_35668928_35686159	35669282	CAGCCTCA others(10): Show CAGCCTCAAGGTTCTACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0138 a0002c0002t0001g0138	1	446	0.0022	-17	c.-46 others(28): Show c.-4677_-4661delAGCCTCAAGGTTCTACA	CA9	ENSG00000107159.14	transcript	ENST00000378357.9	protein_coding		4645		chr9	TogoVar
CAB39L_chr13_49303650_49449064	49329543	AAATATAT others(10): Show AAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02698.hp1 HG01934.hp2 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0193 a0001c0002t0001g0267 a0001c0002t0001g0193 a0001c0002t0001g0267	2	324	0.0062	-17	c.834 others(34): Show c.834+2387_834+2403delATATATATATATATATT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49329545	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG01099.hp1 others(12): Show HG00323.hp2 HG00738.hp1 HG01099.hp1 HG01099.hp2 HG01943.hp2 HG02622.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03239.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 NA18970.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0189 others(12): Show a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0209 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0002t0001g0119 a0001c0002t0001g0180 a0001c0002t0001g0236 a0001c0002t0001g0276 a0001c0002t0003g0016 a0001c0002t0003g0042	15	324	0.0463	-17	c.834 others(34): Show c.834+2385_834+2401delATATATATATATATATA	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CAB39_chr2_230707842_230826075	230712463	TTGTCCCC others(10): Show TTGTCCCCCTGGATGCTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0134 a0001c0001t0025g0134	1	342	0.0029	-17	c.-81 others(26): Show c.-810_-794delTGTCCCCCTGGATGCTG	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding		378		chr2	TogoVar
CAB39_chr2_230707842_230826075	230748826	AAAAAAAT others(10): Show AAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0029 a0001c0001t0006g0029	1	342	0.0029	-17	c.-43 others(36): Show c.-43-11131_-43-11115delAAAAATATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748828	AAAAATAT others(10): Show AAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA20129.hp1 HG03540.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0064 a0001c0001t0020 a0001c0001t0064	a0001c0001t0020g0205 a0001c0001t0064g0183 a0001c0001t0020g0205 a0001c0001t0064g0183	2	342	0.0059	-17	c.-43 others(36): Show c.-43-11129_-43-11113delAAATATATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CABLES1_chr18_23130485_23265470	23191906	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA19090.hp2 HG02895.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0002 a0001c0001t0005 a0001c0003t0002	a0001c0001t0005g0235 a0001c0003t0002g0181 a0001c0001t0005g0235 a0001c0003t0002g0181	2	278	0.0072	-17	c.918 others(34): Show c.918-2523_918-2507delAAAAAAAAAAAAAAAAA	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CACHD1_chr1_64465129_64698053	64640402	GTGGTGGC others(10): Show GTGGTGGCTCACGCCTGT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03195.hp2 HG06807.hp2 HG02280.hp2 HG03195.hp2 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0010 a0001c0004 a0003c0010	a0001c0004t0012 a0003c0010t0001 a0001c0004t0012 a0003c0010t0001	a0001c0004t0012g0115 a0001c0004t0012g0121 a0003c0010t0001g0088 a0001c0004t0012g0115 a0001c0004t0012g0121 a0003c0010t0001g0088	3	166	0.0181	-17	c.100 others(36): Show c.1007-1417_1007-1401delTGGTGGCTCACGCCTGT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	7/26			chr1	TogoVar
CACHD1_chr1_64465129_64698053	64643036	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01258.hp1 HG01261.hp2 HG01081.hp1 HG01258.hp1 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0025 a0001c0001t0001g0076 a0001c0001t0004g0001 a0001c0001t0001g0025 a0001c0001t0001g0076 a0001c0001t0004g0001	3	166	0.0181	-17	c.115 others(36): Show c.1156+1086_1156+1102delAAAAAAAAAAAAAAAAA	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	8/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1A_chr19_13201442_13511479	13346645	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0117 a0002c0117	a0002c0117t0009 a0002c0117t0009	a0002c0117t0009g0079 a0002c0117t0009g0079	1	218	0.0046	-17	c.979 others(36): Show c.979-10753_979-10737delTATATATATATATATAT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346649	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03130.hp2 HG03195.hp2 HG02647.hp1 HG03130.hp2 HG03195.hp2	a0001 a0018 a0023 a0001 a0018 a0023	a0001c0006 a0018c0017 a0023c0113 a0001c0006 a0018c0017 a0023c0113	a0001c0006t0029 a0018c0017t0014 a0023c0113t0013 a0001c0006t0029 a0018c0017t0014 a0023c0113t0013	a0001c0006t0029g0136 a0018c0017t0014g0212 a0023c0113t0013g0096 a0001c0006t0029g0136 a0018c0017t0014g0212 a0023c0113t0013g0096	3	218	0.0138	-17	c.979 others(36): Show c.979-10757_979-10741delTATATATATATATATAT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346650	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03225.hp2 HG03471.hp2 HG02280.hp1 HG03225.hp2 HG03471.hp2	a0001 a0010 a0017 a0001 a0010 a0017	a0001c0016 a0010c0107 a0017c0040 a0001c0016 a0010c0107 a0017c0040	a0001c0016t0004 a0010c0107t0021 a0017c0040t0001 a0001c0016t0004 a0010c0107t0021 a0017c0040t0001	a0001c0016t0004g0074 a0010c0107t0021g0004 a0017c0040t0001g0008 a0001c0016t0004g0074 a0010c0107t0021g0004 a0017c0040t0001g0008	3	218	0.0138	-17	c.979 others(36): Show c.979-10758_979-10742delATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346652	ATATATAT others(10): Show ATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01934.hp1 HG01884.hp2 HG01934.hp1	a0001 a0003 a0001 a0003	a0001c0006 a0003c0015 a0001c0006 a0003c0015	a0001c0006t0005 a0003c0015t0008 a0001c0006t0005 a0003c0015t0008	a0001c0006t0005g0110 a0003c0015t0008g0036 a0001c0006t0005g0110 a0003c0015t0008g0036	2	218	0.0092	-17	c.979 others(36): Show c.979-10760_979-10744delAAATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346656	ATATATAT others(10): Show ATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0199 a0001c0004t0001g0199	1	218	0.0046	-17	c.979 others(36): Show c.979-10764_979-10748delAAAAAAATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13406463	AATTATAT others(10): Show AATTATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0007 a0001c0038t0007	a0001c0038t0007g0205 a0001c0038t0007g0205	1	218	0.0046	-17	c.540 others(36): Show c.540-34701_540-34685delATATATATATATATAAT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13466017	GAAGGAGA others(10): Show GAAGGAGAGAGACTGCTT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp1 HG02976.hp2 others(2): Show HG02258.hp2 HG02615.hp1 HG02976.hp2 HG03130.hp2 NA20129.hp2	a0001 a0007 a0024 a0001 a0007 a0024	a0001c0005 a0001c0006 a0001c0037 others(2): Show a0001c0005 a0001c0006 a0001c0037 a0007c0009 a0024c0059	a0001c0005t0005 a0001c0006t0029 a0001c0037t0004 others(2): Show a0001c0005t0005 a0001c0006t0029 a0001c0037t0004 a0007c0009t0038 a0024c0059t0023	a0001c0005t0005g0135 a0001c0006t0029g0136 a0001c0037t0004g0021 others(2): Show a0001c0005t0005g0135 a0001c0006t0029g0136 a0001c0037t0004g0021 a0007c0009t0038g0153 a0024c0059t0023g0001	5	218	0.0229	-17	c.294 others(36): Show c.294-10822_294-10806delAAGCAGTCTCTCTCCTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497488	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0010 a0010	a0010c0083 a0010c0083	a0010c0083t0014 a0010c0083t0014	a0010c0083t0014g0159 a0010c0083t0014g0159	1	218	0.0046	-17	c.293 others(34): Show c.293+8427_293+8443delTTTTTTTTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497516	AAAAAAAT others(10): Show AAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0011 a0011	a0011c0103 a0011c0103	a0011c0103t0004 a0011c0103t0004	a0011c0103t0004g0200 a0011c0103t0004g0200	1	218	0.0046	-17	c.293 others(34): Show c.293+8399_293+8415delATATATATATATTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497520	AAATATAT others(10): Show AAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18979.hp1 NA19079.hp2 HG00423.hp1 NA18979.hp1 NA19079.hp2	a0006 a0007 a0019 a0006 a0007 a0019	a0006c0029 a0007c0009 a0019c0109 a0006c0029 a0007c0009 a0019c0109	a0006c0029t0002 a0007c0009t0034 a0019c0109t0005 a0006c0029t0002 a0007c0009t0034 a0019c0109t0005	a0006c0029t0002g0197 a0007c0009t0034g0163 a0019c0109t0005g0198 a0006c0029t0002g0197 a0007c0009t0034g0163 a0019c0109t0005g0198	3	218	0.0138	-17	c.293 others(34): Show c.293+8395_293+8411delATATATATATATATATT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497522	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02647.hp1 HG02451.hp1 HG02647.hp1	a0003 a0023 a0003 a0023	a0003c0013 a0023c0113 a0003c0013 a0023c0113	a0003c0013t0027 a0023c0113t0013 a0003c0013t0027 a0023c0113t0013	a0003c0013t0027g0149 a0023c0113t0013g0096 a0003c0013t0027g0149 a0023c0113t0013g0096	2	218	0.0092	-17	c.293 others(34): Show c.293+8393_293+8409delATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1B_chr9_137872782_138129619	137949499	ATGTGTGT others(10): Show ATGTGTGTGATGTGTGTC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA20752.hp2 HG02486.hp2 NA20752.hp2	a0005 a0005	a0005c0024 a0005c0024	a0005c0024t0011 a0005c0024t0011	a0005c0024t0011g0160 a0005c0024t0011g0162 a0005c0024t0011g0160 a0005c0024t0011g0162	2	248	0.0081	-17	c.967 others(34): Show c.967-2749_967-2733delATGTGTGTCTGTGTGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	6/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138002775	CTTTTCTT others(10): Show CTTTTCTTTTCTTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19060.hp2 NA19079.hp2 NA19056.hp2 NA19060.hp2 NA19079.hp2	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0017 a0008c0019t0025 a0008c0019t0017 a0008c0019t0025	a0008c0019t0017g0124 a0008c0019t0017g0125 a0008c0019t0025g0126 a0008c0019t0017g0124 a0008c0019t0017g0125 a0008c0019t0025g0126	3	248	0.0121	-17	c.197 others(36): Show c.1975-3972_1975-3956delTTCTTTTCTTTTCTTTT	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	15/46		INFO_REALIGN_3_PRIME	chr9	TogoVar

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