Joint Open Genome and Omics Platform (JoGo)

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	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
C2orf81_chr2_74409177_74426619	74415138	A A	ACGCGGAG others(41): Show ACGCGGAGGGGCGGGTGGCGCCGCCCGCGGAGGGGCGGGTGGCGCCGCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18952.hp1 NA18952.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0084 a0006c0008t0001g0084	1	402	0.0025	48	c.103 others(57): Show c.1038_1039insGGCGGCGCCACCCGCCCCTCCGCGGGCGGCGCCACC CGCCCCTCCGCG	p.Ala others(61): Show p.Ala346_Ser347insGlyGlyAlaThrArgProSerAlaGlyGlyAl aThrArgProSerAla	C2orf81	ENSG00000284308.2	transcript	ENST00000684111.1	protein_coding	3/3	1097/2059	1038/1848	346/615			chr2	TogoVar
C3_chr19_6672704_6725650	6674653	C C	CGGGGGGG others(41): Show CGGGGGGGAGTGGTGGAGGGGGAGATATGGAGGGGGGGGGGGAAGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0203 a0001c0007t0002g0203	1	370	0.0027	48	c.32 others(59): Show c.3228_*3229insCGCCCTTCCCCCCCCCCCTCCATATCTCCCCCTC CACCACTCCCCCCC		C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding					3050		chr19	TogoVar
C3_chr19_6672704_6725650	6713849	C C	CCCAGCCC others(41): Show CCCAGCCCCCCACCTGACTCCACCCCCAGCCCCCCACCTGGTCCCATCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02896.hp1 HG02897.hp1 others(4): Show HG02572.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03453.hp2 HG03710.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 others(2): Show a0001c0001 a0001c0002 a0001c0010 a0001c0012 a0001c0053	a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 a0001c0012t0001 a0001c0053t0001	a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 others(4): Show a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0002t0001g0172 a0001c0010t0001g0227 a0001c0012t0001g0025 a0001c0053t0001g0311	7	370	0.0189	48	c.773 others(62): Show c.773+95_773+142dupAGATGGGACCAGGTGGGGGGCTGGGGGTGGA GTCAGGTGGGGGGCTGG		C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	7/40						chr19	TogoVar
C3orf20_chr3_14670141_14778036	14773557	A A	AGGGGGAG others(41): Show AGGGGGAGGGGAACAAGTAAGCGGGGGAGGGGAACAAGTAAGGAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0342 a0002c0002t0001g0342	1	380	0.0026	48	c.68 others(57): Show c.682_*683insGGGGGAGGGGAACAAGTAAGCGGGGGAGGGGAACAA GTAAGGAGGGAG		C3orf20	ENSG00000131379.10	transcript	ENST00000253697.8	protein_coding					522		chr3	TogoVar
C3orf70_chr3_185071838_185158060	185085713	G G	GAGGTGGT others(41): Show GAGGTGGTATGGTAGGTGGTATGGTAGGTGGTATGGTAGGTGGTATGGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG04199.hp1 HG02647.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0113 a0001c0001t0011 a0001c0001t0113	a0001c0001t0011g0145 a0001c0001t0113g0342 a0001c0001t0011g0145 a0001c0001t0113g0342	2	388	0.0052	48	c.197 others(65): Show c.197-2151_197-2150insACCATACCACCTACCATACCACCTACCA TACCACCTACCATACCACCT		C3orf70	ENSG00000187068.3	transcript	ENST00000335012.3	protein_coding	1/1						chr3	TogoVar
C4orf36_chr4_86871205_86897422	86890207	G G	GAGGGAGG others(41): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02698.hp1 HG02109.hp2 HG02698.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0005	a0005c0005t0005g0178 a0005c0005t0005g0179 a0005c0005t0005g0178 a0005c0005t0005g0179	2	386	0.0052	48	c.65+ others(63): Show c.65+1248_65+1249insTCCTTCCTTCCTTCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCT		C4orf36	ENSG00000163633.12	transcript	ENST00000295898.8	protein_coding	2/4						chr4	TogoVar
C4orf36_chr4_86871205_86897422	86890207	G G	GAGGGAGG others(41): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp2 HG01099.hp1 others(3): Show HG00738.hp2 HG01069.hp2 HG01099.hp1 HG01167.hp1 HG01169.hp2 HG01516.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0005	a0005c0005t0005g0046 a0005c0005t0005g0047 a0005c0005t0005g0177 others(1): Show a0005c0005t0005g0046 a0005c0005t0005g0047 a0005c0005t0005g0177 a0005c0005t0005g0181	6	386	0.0155	48	c.65+ others(63): Show c.65+1248_65+1249insTCCTTCCTTCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCT		C4orf36	ENSG00000163633.12	transcript	ENST00000295898.8	protein_coding	2/4						chr4	TogoVar
C5_chr9_120947335_121055275	121024324	A A	AGGGGGAG others(41): Show AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGG	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	276	0.0036	48	c.100 others(65): Show c.1001-806_1001-805insCCTCCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCC		C5	ENSG00000106804.10	transcript	ENST00000223642.3	protein_coding	9/40						chr9	TogoVar
C7orf50_chr7_992006_1143247	1039546	G G	GGGGATGT others(41): Show GGGGATGTCGGCCCCCCGCCCGGCCAGCCGTCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0307 a0001c0001t0003g0307	1	326	0.0031	48	c.130 others(67): Show c.130-29404_130-29403insACCTCCCTCCCGGACGGGACGGCTGG CCGGGCGGGGGGCCGACATCCC		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4						chr7	TogoVar
C7orf50_chr7_992006_1143247	1039546	G G	GGGGGTGT others(41): Show GGGGGTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00558.hp2 others(116): Show HG00323.hp2 HG00438.hp2 HG00558.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01243.hp1 HG01255.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18940.hp1 NA18948.hp1 NA18952.hp2 NA18955.hp2 NA18959.hp2 NA18963.hp2 NA18964.hp1 NA18969.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18990.hp2 NA18999.hp2 NA19007.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19064.hp2 NA19079.hp2 NA19082.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0002c0002 a0003c0004 others(2): Show a0001c0001 a0002c0002 a0003c0004 a0006c0006 a0007c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0002c0002t0003 a0002c0002t0018 a0003c0004t0002 a0006c0006t0005 a0007c0005t0008	a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0099 others(116): Show a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0099 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0299 a0001c0001t0003g0205 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0263 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0005g0204 a0001c0001t0005g0212 a0001c0001t0005g0227 a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0005g0241 a0001c0001t0005g0248 a0001c0001t0005g0260 a0001c0001t0005g0273 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0297 a0001c0001t0005g0305 a0001c0001t0005g0306 a0001c0001t0005g0308 a0001c0001t0007g0118 a0001c0001t0007g0144 a0001c0001t0007g0150 a0001c0001t0007g0159 a0001c0001t0007g0160 a0001c0001t0007g0161 a0001c0001t0007g0162 a0001c0001t0007g0163 a0001c0001t0008g0116 a0001c0001t0008g0132 a0001c0001t0008g0151 a0001c0001t0008g0154 a0001c0001t0008g0155 a0001c0001t0008g0156 a0001c0001t0008g0166 a0001c0001t0008g0168 a0001c0001t0008g0169 a0001c0001t0008g0170 a0001c0001t0008g0171 a0001c0001t0011g0226 a0001c0001t0013g0011 a0001c0001t0013g0012 a0001c0001t0013g0015 a0001c0001t0013g0016 a0001c0001t0014g0158 a0001c0001t0014g0172 a0001c0001t0014g0173 a0001c0001t0014g0174 a0001c0001t0015g0225 a0001c0001t0016g0100 a0001c0001t0016g0113 a0001c0001t0019g0324 a0001c0001t0019g0325 a0001c0001t0020g0001 a0001c0001t0027g0193 a0001c0001t0029g0224 a0001c0001t0030g0326 a0002c0002t0003g0288 a0002c0002t0003g0315 a0002c0002t0003g0316 a0002c0002t0003g0317 a0002c0002t0003g0322 a0002c0002t0003g0323 a0002c0002t0018g0202 a0002c0002t0018g0203 a0003c0004t0002g0230 a0006c0006t0005g0296 a0007c0005t0008g0167	119	326	0.3650	48	c.130 others(67): Show c.130-29404_130-29403insACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACACCCC		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4						chr7	TogoVar
C7orf50_chr7_992006_1143247	1039546	G G	GGGGGTGT others(41): Show GGGGGTGTCGGCCCCCCGCCCGGCCAGCCGTCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01884.hp1 HG02145.hp1 others(13): Show HG01496.hp2 HG01884.hp1 HG02145.hp1 HG02257.hp2 HG02280.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG03139.hp1 HG03453.hp1 HG03471.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 others(3): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0022 a0002c0002t0003	a0001c0001t0005g0314 a0001c0001t0006g0090 a0001c0001t0010g0119 others(13): Show a0001c0001t0005g0314 a0001c0001t0006g0090 a0001c0001t0010g0119 a0001c0001t0012g0291 a0001c0001t0012g0292 a0001c0001t0012g0310 a0001c0001t0012g0312 a0001c0001t0012g0313 a0001c0001t0012g0321 a0001c0001t0022g0019 a0002c0002t0003g0281 a0002c0002t0003g0300 a0002c0002t0003g0301 a0002c0002t0003g0302 a0002c0002t0003g0303 a0002c0002t0003g0304	16	326	0.0491	48	c.130 others(67): Show c.130-29404_130-29403insACCTCCCTCCCGGACGGGACGGCTGG CCGGGCGGGGGGCCGACACCCC		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4						chr7	TogoVar
C7orf50_chr7_992006_1143247	1039546	G G	GGGGGTGT others(41): Show GGGGGTGTCGGCCCCCCGCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02083.hp1 HG02132.hp1 others(24): Show HG01934.hp1 HG02083.hp1 HG02132.hp1 HG02155.hp1 HG02300.hp2 HG03927.hp2 NA18612.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18962.hp1 NA18963.hp1 NA18971.hp1 NA18972.hp1 NA18984.hp1 NA18986.hp2 NA18998.hp2 NA18999.hp1 NA19005.hp2 NA19007.hp2 NA19055.hp1 NA19056.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 a0001c0001t0028	a0001c0001t0001g0029 a0001c0001t0004g0176 a0001c0001t0004g0177 others(24): Show a0001c0001t0001g0029 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0021g0086 a0001c0001t0028g0201	27	326	0.0828	48	c.130 others(67): Show c.130-29404_130-29403insACCTCCCTCCCGGACGGGGCGGCTGG CCCGGCGGGGGGCCGACACCCC		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4						chr7	TogoVar
C7orf50_chr7_992006_1143247	1059667	A A	ATAGTGAG others(41): Show ATAGTGAGGCGGGTCCGTAGTGGGGCGGGTCTGTAGTGAGGTGGGTCTG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03195.hp1 HG02717.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0082 a0001c0001t0001g0083	2	326	0.0061	48	c.130 others(67): Show c.130-49525_130-49524insCAGACCCACCTCACTACAGACCCGCC CCACTACGGACCCGCCTCACTA		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4						chr7	TogoVar
C7orf50_chr7_992006_1143247	1059800	C C	CCCGTAGT others(41): Show CCCGTAGTGGGGCGGGTCTGTAGTGGGGCGGGTCCGTAATGAGGCGGGT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0171 a0001c0001t0008g0171	1	326	0.0031	48	c.130 others(67): Show c.130-49658_130-49657insACCCGCCTCATTACGGACCCGCCCCA CTACAGACCCGCCCCACTACGG		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4						chr7	TogoVar
C7orf50_chr7_992006_1143247	1107800	T T	TGGAGGAA others(41): Show TGGAGGAAGCAGAGGAGGGCTGTGTCCCACACTGGAGACCCGCACCCCG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	326	0.0031	48	c.129 others(67): Show c.129+19409_129+19456dupCGGGGTGCGGGTCTCCAGTGTGGGAC ACAGCCCTCCTCTGCTTCCTCC		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4						chr7	TogoVar
C7orf50_chr7_992006_1143247	1107924	A A	ACACTGGA others(41): Show ACACTGGAGACCCGCAGCCCGGGAGGAAGCAGAGGGGGGCTGTGTCCCG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0011 a0001c0001t0013g0011	1	326	0.0031	48	c.129 others(67): Show c.129+19332_129+19333insCGGGACACAGCCCCCCTCTGCTTCCT CCCGGGCTGCGGGTCTCCAGTG		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4						chr7	TogoVar
C7orf50_chr7_992006_1143247	1107944	G G	GGGAGGAA others(41): Show GGGAGGAAGCAGAGGAGGGCTGTGTCCCACACTGGAGACCCGCACCCCA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0205 a0001c0001t0003g0205	1	326	0.0031	48	c.129 others(67): Show c.129+19312_129+19313insTGGGGTGCGGGTCTCCAGTGTGGGAC ACAGCCCTCCTCTGCTTCCTCC		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4						chr7	TogoVar
C7orf50_chr7_992006_1143247	1127903	C C	CGTCACCC others(41): Show CGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	326	0.0031	48	c.-1- others(61): Show c.-1-565_-1-518dupAGGGTGGGATGAGCCGAGATGGCGCCACTGCA CTCCAGCCCGGGTGAC		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4						chr7	TogoVar
C9orf24_chr9_34374019_34402810	34399509	A A	AGCCACAT others(41): Show AGCCACATGTGCTCAGACATACACAGTCCTGATAGGAACTGCCTAATCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	450	0.0022	48	c.-18 others(59): Show c.-1877_-1876insGGATTAGGCAGTTCCTATCAGGACTGTGTATGTC TGAGCACATGTGGC		C9orf24	ENSG00000164972.14	transcript	ENST00000297623.7	protein_coding					1700		chr9	TogoVar
C9orf72_chr9_27541546_27578481	27573523	C C	CGCCCCGG others(41): Show CGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01496.hp1 others(2): Show HG01257.hp2 HG01258.hp2 HG01496.hp1 HG04115.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0039 a0001c0001t0003g0149 others(2): Show a0001c0001t0003g0010 a0001c0001t0003g0039 a0001c0001t0003g0149 a0001c0001t0003g0157 a0001c0001t0003g0163	5	438	0.0114	48	c.-13 others(57): Show c.-138_-137insCGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGGGGC CGGGGCCGGGGC		C9orf72	ENSG00000147894.17	transcript	ENST00000380003.8	protein_coding					43		chr9	TogoVar
CA10_chr17_51625320_52163714	51717839	A A	ATGTATAT others(41): Show ATGTATATATATACGTGTATGTATATATGTATATATATACGTGTATGTG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0044 a0001c0003t0001g0044	1	156	0.0064	48	c.465 others(67): Show c.465+29793_465+29794insCACATACACGTATATATATACATATA TACATACACGTATATATATACA		CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	4/8						chr17	TogoVar
CA10_chr17_51625320_52163714	51917312	T T	TGCCTGGG others(41): Show TGCCTGGGAATACCAGGGAAGAGATGTGCCTTTCAGAAGGTACTGAAGG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00438.hp1 others(20): Show HG00408.hp2 HG00423.hp1 HG00438.hp1 HG01169.hp2 HG01258.hp2 HG03239.hp1 HG03492.hp1 HG03704.hp1 HG03710.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp2 NA18951.hp2 NA18962.hp1 NA18964.hp2 NA18968.hp1 NA18974.hp2 NA18982.hp2 NA19000.hp1 NA19010.hp2 NA19062.hp2 NA19078.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0001	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0123 others(20): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0123 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0002g0006 a0001c0001t0002g0020 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0047 a0001c0001t0007g0004 a0001c0002t0001g0007 a0001c0002t0001g0015 a0001c0002t0001g0022 a0001c0002t0001g0088 a0001c0002t0001g0104 a0001c0002t0001g0122 a0001c0002t0001g0151	23	156	0.1474	48	c.279 others(67): Show c.279+13630_279+13677dupCCTTCAGTACCTTCTGAAAGGCACAT CTCTTCCCTGGTATTCCCAGGC		CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8						chr17	TogoVar
CA10_chr17_51625320_52163714	51942538	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0126	1	156	0.0064	48	c.137 others(67): Show c.137-11407_137-11406insTATATATATATATATATATATATATA TATATATATATATATATATATA		CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	2/8						chr17	TogoVar
CA6_chr1_8940868_8980092	8977700	A A	AAAAGAAA others(41): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0177 a0001c0002t0001g0177	1	452	0.0022	48	c.29 others(59): Show c.2996_*2997insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAG		CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding					2609		chr1	TogoVar
CAB39_chr2_230707842_230826075	230782809	C C	CTTTTTTT others(41): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0167 a0001c0001t0069g0167	1	342	0.0029	48	c.115 others(65): Show c.115-8060_115-8059insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT		CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
CABCOCO1_chr10_61657929_61771766	61680671	C C	CATATATG others(41): Show CATATATGTTATACATGTATAACATATATATGTTATACATGTATAACAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19240.hp1 HG03225.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0009 a0001c0001t0001g0010	2	374	0.0054	48	c.165 others(63): Show c.165-465_165-418dupGTTATACATGTATAACATATATATGTTATA CATGTATAACATATATAT		CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
CABIN1_chr22_24006304_24183628	24042818	C C	CTGTGTGT others(41): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0238 a0001c0007t0002g0238	1	268	0.0037	48	c.346 others(61): Show c.346-74_346-27dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT		CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	5/36					INFO_REALIGN_3_PRIME	chr22	TogoVar
CABLES1_chr18_23130485_23265470	23218300	C C	CCTCCCGC others(41): Show CCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGG	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA20905.hp2 HG02523.hp1 NA20905.hp2	a0001 a0007 a0001 a0007	a0001c0014 a0007c0010 a0001c0014 a0007c0010	a0001c0014t0036 a0007c0010t0004 a0001c0014t0036 a0007c0010t0004	a0001c0014t0036g0079 a0007c0010t0004g0177 a0001c0014t0036g0079 a0007c0010t0004g0177	2	278	0.0072	48	c.108 others(67): Show c.1088+4293_1088+4294insGCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTG		CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218324	C C	CCTCCCGC others(41): Show CCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0207 a0001c0001t0005g0207	1	278	0.0036	48	c.108 others(67): Show c.1088+4293_1088+4294insGCTCCCGCATCCTCACTTGCCCTGGC TCCCGCATCCTCACTTGCCCTG		CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218444	C C	CCTCCCGC others(41): Show CCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0188 a0001c0001t0016g0188	1	278	0.0036	48	c.108 others(67): Show c.1088+4413_1088+4414insGCTCCCGCATCCTCACTTGCCCTGGC TCCCGCATCCTCACTTGCCCTG		CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218492	C C	CCTCCCGC others(41): Show CCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02622.hp1 others(1): Show HG01167.hp2 HG01169.hp1 HG02622.hp1 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0002 a0001c0001t0004 a0004c0008t0002 a0001c0001t0002 a0001c0001t0004 a0004c0008t0002	a0001c0001t0002g0104 a0001c0001t0004g0206 a0004c0008t0002g0185 others(1): Show a0001c0001t0002g0104 a0001c0001t0004g0206 a0004c0008t0002g0185 a0004c0008t0002g0186	4	278	0.0144	48	c.108 others(67): Show c.1088+4486_1088+4533dupGCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTG		CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218493	C C	CTCCCGCA others(41): Show CTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0247 a0001c0001t0005g0247	1	278	0.0036	48	c.108 others(67): Show c.1088+4461_1088+4462insGCTCCCGCATCCTCACTTGCCCTGGT TCCCGCATCCTCACTTGCCCTG		CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218540	G G	GCTCCCGC others(41): Show GCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG01109.hp2 others(20): Show HG00408.hp1 HG00609.hp1 HG01109.hp2 HG01516.hp1 HG02165.hp2 HG03239.hp2 HG03669.hp2 NA18942.hp2 NA18953.hp2 NA18954.hp2 NA18959.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18975.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp1 NA19000.hp2 NA19011.hp2 NA19063.hp1 NA19074.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0029 a0001c0001t0033 a0001c0001t0037 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047	a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0021 others(20): Show a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0070 a0001c0001t0002g0033 a0001c0001t0012g0038 a0001c0001t0012g0039 a0001c0001t0029g0068 a0001c0001t0033g0140 a0001c0001t0037g0217 a0001c0001t0044g0056 a0001c0001t0045g0026 a0001c0001t0047g0023	23	278	0.0827	48	c.108 others(67): Show c.1088+4510_1088+4557dupCCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTG		CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218564	C C	CCTCCCGC others(41): Show CCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0170 a0001c0001t0032g0170	1	278	0.0036	48	c.108 others(67): Show c.1088+4588_1088+4635dupGCATCCTCACTTGCCCTGGCTCCCGC ATCCTCACTTGCCCTGCCTCCC		CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218588	C C	CCTCCCGC others(41): Show CCTCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0188 a0001c0001t0016g0188	1	278	0.0036	48	c.108 others(67): Show c.1088+4581_1088+4582insGCTCCCGCATCCTCACTTGCCCTGGC TCCCGCATCCTCACTTGCCCTG		CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES2_chr20_62383634_62412285	62397940	G G	GGCGGTGG others(41): Show GGCGGTGGTGGTGATGGTGGTGACGGTAGTGGTGGTGATGGTGGTGACA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA19054.hp1 NA18950.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	2	400	0.0050	48	c.363 others(65): Show c.363-1349_363-1348insTGTCACCACCATCACCACCACTACCGTC ACCACCATCACCACCACCGC		CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9						chr20	TogoVar
CACNA1A_chr19_13201442_13511479	13510035	A A	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0160 a0002c0002t0015g0160	1	218	0.0046	48	c.-38 others(59): Show c.-3812_-3811insCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTC CTTCCTTCCTTCCT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding					3557		chr19	TogoVar
CACNA1C_chr12_2047987_2702950	2462305	T T	TCTGCACA others(41): Show TCTGCACAGGCCTGCGCACCTCCTTGGCCCCCACCTCGGCTCAGCTCTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03041.hp1 HG02055.hp1 HG03041.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0036 a0001c0004t0004 a0001c0004t0036	a0001c0004t0004g0086 a0001c0004t0036g0099 a0001c0004t0004g0086 a0001c0004t0036g0099	2	104	0.0192	48	c.757 others(65): Show c.757+4600_757+4601insTGCACAGGCCTGCGCACCTCCTTGGCCC CCACCTCGGCTCAGCTCTCC		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	5/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1E_chr1_181478517_181813084	181795767	A A	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0014 a0003c0003t0014	a0003c0003t0014g0082 a0003c0003t0014g0082	1	206	0.0049	48	c.620 others(65): Show c.6208+743_6208+744insATATATATATATATATATATATATATAT ATATATATATATATATATAT		CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	46/47					INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1H_chr16_1148106_1226768	1184759	G G	GGTCCAAA others(41): Show GGTCCAAAGGGCGCCTTCAGTGGCGACTGCAGACAGGTGCGGGGCTCCA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0074 a0074	a0074c0120 a0074c0120	a0074c0120t0037 a0074c0120t0037	a0074c0120t0037g0067 a0074c0120t0037g0067	1	338	0.0030	48	c.300 others(67): Show c.300-10211_300-10164dupTCCAAAGGGCGCCTTCAGTGGCGACT GCAGACAGGTGCGGGGCTCCAG		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34					INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1199298	A A	AGTCGCTG others(41): Show AGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCACCGCGCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG01109.hp1 others(2): Show HG00099.hp2 HG00140.hp2 HG01109.hp1 HG02602.hp2 NA20752.hp1	a0002 a0009 a0002 a0009	a0002c0013 a0009c0016 a0002c0013 a0009c0016	a0002c0013t0001 a0002c0013t0036 a0009c0016t0013 a0002c0013t0001 a0002c0013t0036 a0009c0016t0013	a0002c0013t0001g0170 a0002c0013t0001g0175 a0002c0013t0001g0176 others(2): Show a0002c0013t0001g0170 a0002c0013t0001g0175 a0002c0013t0001g0176 a0002c0013t0036g0206 a0009c0016t0013g0246	5	338	0.0148	48	c.803 others(63): Show c.803+568_803+569insCGCGGTCGCTGCACATATGCCCCACCCCCA TCATGGCTCCGCCCACCG		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	6/34					INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1199298	A A	AGTCGCTG others(41): Show AGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCACCGTGCG	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18522.hp1 HG03130.hp1 NA18522.hp1	a0001 a0043 a0001 a0043	a0001c0040 a0043c0085 a0001c0040 a0043c0085	a0001c0040t0001 a0043c0085t0003 a0001c0040t0001 a0043c0085t0003	a0001c0040t0001g0228 a0043c0085t0003g0048 a0001c0040t0001g0228 a0043c0085t0003g0048	2	338	0.0059	48	c.803 others(63): Show c.803+567_803+614dupCGTGCGGTCGCTGCACATATGCCCCACCCC CATCATGGCTCCGCCCAC		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	6/34					INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1199431	G G	GCCCACCG others(41): Show GCCCACCGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02809.hp2 HG02922.hp1 others(2): Show HG02258.hp1 HG02809.hp2 HG02922.hp1 HG03098.hp1 NA19030.hp1	a0002 a0003 a0058 a0002 a0003 a0058	a0002c0011 a0003c0068 a0058c0069 a0002c0011 a0003c0068 a0058c0069	a0002c0011t0001 a0002c0011t0002 a0003c0068t0004 others(1): Show a0002c0011t0001 a0002c0011t0002 a0003c0068t0004 a0058c0069t0033	a0002c0011t0001g0289 a0002c0011t0002g0201 a0002c0011t0002g0203 others(2): Show a0002c0011t0001g0289 a0002c0011t0002g0201 a0002c0011t0002g0203 a0003c0068t0004g0290 a0058c0069t0033g0049	5	338	0.0148	48	c.803 others(63): Show c.803+677_803+678insCATATGCCCCACCCCCATCATGGCTCCACC CACCGTGCGGTCGCTGCA		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	6/34					INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1199468	A A	ATCATGGC others(41): Show ATCATGGCTCCGCCCACCGTGCGGTCGCTGCACATATGCCCCACCCCCT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02976.hp2 HG03453.hp2 HG01981.hp2 HG02976.hp2 HG03453.hp2	a0016 a0016	a0016c0026 a0016c0134 a0016c0026 a0016c0134	a0016c0026t0003 a0016c0026t0008 a0016c0134t0003 a0016c0026t0003 a0016c0026t0008 a0016c0134t0003	a0016c0026t0003g0109 a0016c0026t0008g0279 a0016c0134t0003g0308 a0016c0026t0003g0109 a0016c0026t0008g0279 a0016c0134t0003g0308	3	338	0.0089	48	c.803 others(63): Show c.803+704_803+705insGCCCACCGTGCGGTCGCTGCACATATGCCC CACCCCCTTCATGGCTCC		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	6/34					INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA2D1_chr7_81941444_82448777	82291148	A A	ATATAATT others(41): Show ATATAATTCTATATCGATATAGAATTATAATTCTATATCGATATAGAAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18906.hp2 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0021 a0001c0001t0004g0022	2	144	0.0139	48	c.294 others(67): Show c.294+43939_294+43986dupATTCTATATCGATATAGAATTATAAT TCTATATCGATATAGAATTATA		CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38						chr7	TogoVar
CACNA2D3_chr3_54117552_55079557	54478660	G G	GTGTATAT others(41): Show GTGTATATATATATATATTGCTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0069 a0001c0024t0001g0069	1	118	0.0085	48	c.382 others(67): Show c.382-24831_382-24830insGTATATATATATATATTGCTATATAT ATATATATATATATATATATAT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	4/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB2_chr10_18135424_18548557	18442926	G G	GTATATAT others(41): Show GTATATATATATATGTATATATATATATATATGTATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0194 a0001c0001t0037g0194	1	200	0.0050	48	c.333 others(67): Show c.333+40896_333+40897insGTATATATATATATATATGTATATAT ATATATGTATATATATATATAT		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNG2_chr22_36555857_36708752	36703760	G G	GCTCGCTC others(41): Show GCTCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG04204.hp2 HG02630.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0057 a0001c0001t0055 a0001c0001t0057	a0001c0001t0055g0106 a0001c0001t0057g0107 a0001c0001t0055g0106 a0001c0001t0057g0107	2	214	0.0094	48	c.-11 others(59): Show c.-1185_-1184insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGCGAG		CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding					9		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36706226	C C	CTCTTCTT others(41): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01516.hp2 HG02886.hp1 HG01192.hp2 HG01516.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0080 a0001c0001t0105 a0001c0001t0012 a0001c0001t0080 a0001c0001t0105	a0001c0001t0012g0173 a0001c0001t0080g0147 a0001c0001t0105g0206 a0001c0001t0012g0173 a0001c0001t0080g0147 a0001c0001t0105g0206	3	214	0.0140	48	c.-36 others(59): Show c.-3651_-3650insAGGAGAAGGAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGA		CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding					2475		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36706230	T T	TCTTCTTC others(41): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0170 a0001c0001t0003g0170	1	214	0.0047	48	c.-36 others(59): Show c.-3655_-3654insGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAG		CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding					2479		chr22	TogoVar

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