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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
CA5B_chrX_15733270_15793411	15736436	C C	CAAAAAAA others(2): Show CAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00597.hp1 others(118): Show HG00280.hp1 HG00323.hp1 HG00597.hp1 HG00639.hp1 HG00642.hp1 HG00738.hp1 HG00741.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01952.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02630.hp1 HG02723.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG03130.hp1 HG03195.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04204.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18948.hp1 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18966.hp1 NA18971.hp1 NA18974.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18992.hp2 NA18994.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19066.hp1 NA19075.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0003 a0001c0001 a0001c0002 a0004c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0020 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0024 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027 a0001c0002t0028 a0004c0003t0007	a0001c0001t0001g0016 a0001c0001t0001g0059 a0001c0001t0001g0061 others(114): Show a0001c0001t0001g0016 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0243 a0001c0001t0001g0261 a0001c0001t0003g0029 a0001c0001t0003g0032 a0001c0001t0003g0037 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0062 a0001c0001t0003g0260 a0001c0001t0005g0080 a0001c0001t0011g0126 a0001c0001t0011g0139 a0001c0001t0013g0249 a0001c0001t0014g0050 a0001c0001t0014g0248 a0001c0001t0017g0129 a0001c0001t0020g0097 a0001c0001t0029g0055 a0001c0001t0030g0257 a0001c0001t0032g0063 a0001c0001t0033g0004 a0001c0002t0002g0001 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0054 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0002g0184 a0001c0002t0002g0188 a0001c0002t0002g0190 a0001c0002t0002g0193 a0001c0002t0002g0195 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0204 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0217 a0001c0002t0002g0221 a0001c0002t0002g0223 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0236 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0242 a0001c0002t0002g0247 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0253 a0001c0002t0004g0009 a0001c0002t0004g0060 a0001c0002t0004g0176 a0001c0002t0004g0185 a0001c0002t0004g0201 a0001c0002t0004g0218 a0001c0002t0004g0232 a0001c0002t0004g0240 a0001c0002t0007g0231 a0001c0002t0024g0196 a0001c0002t0025g0191 a0001c0002t0026g0172 a0001c0002t0027g0219 a0001c0002t0028g0180 a0004c0003t0007g0237	121	274	0.4416	9	c.-19 others(20): Show c.-1970_-1969insAAAAAAAAA	CA5B	ENSG00000169239.14	transcript	ENST00000318636.8	protein_coding		1833		chrX	TogoVar
CA6_chr1_8940868_8980092	8959931	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02055.hp1 HG02572.hp1 others(5): Show HG01975.hp1 HG02055.hp1 HG02572.hp1 HG02602.hp2 HG02896.hp1 HG02897.hp1 HG03209.hp2 NA19240.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0001 a0003c0003 a0004c0009 a0002c0001 a0003c0003 a0004c0009	a0002c0001t0002 a0003c0003t0001 a0004c0009t0001 a0002c0001t0002 a0003c0003t0001 a0004c0009t0001	a0002c0001t0002g0364 a0003c0003t0001g0074 a0004c0009t0001g0206 others(5): Show a0002c0001t0002g0364 a0003c0003t0001g0074 a0004c0009t0001g0206 a0004c0009t0001g0207 a0004c0009t0001g0208 a0004c0009t0001g0209 a0004c0009t0001g0218 a0004c0009t0001g0219	8	452	0.0177	9	c.501 others(24): Show c.501+940_501+948dupAAAAAAAAA	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CA6_chr1_8940868_8980092	8973773	T T	TTTTTCTT others(2): Show TTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02965.hp2 HG03130.hp2 others(2): Show HG02055.hp1 HG02965.hp2 HG03130.hp2 HG03486.hp2 NA18522.hp1	a0002 a0004 a0008 a0002 a0004 a0008	a0002c0016 a0002c0025 a0004c0008 others(2): Show a0002c0016 a0002c0025 a0004c0008 a0004c0009 a0008c0012	a0002c0016t0001 a0002c0025t0001 a0004c0008t0003 others(2): Show a0002c0016t0001 a0002c0025t0001 a0004c0008t0003 a0004c0009t0001 a0008c0012t0001	a0002c0016t0001g0323 a0002c0025t0001g0016 a0004c0008t0003g0217 others(2): Show a0002c0016t0001g0323 a0002c0025t0001g0016 a0004c0008t0003g0217 a0004c0009t0001g0207 a0008c0012t0001g0431	5	452	0.0111	9	c.845 others(24): Show c.845-847_845-846insTTCTTTCTT	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CA6_chr1_8940868_8980092	8973784	C C	CTTTCTTT others(2): Show CTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00735.hp2 HG03834.hp1 others(5): Show HG00673.hp1 HG00735.hp2 HG03834.hp1 NA18948.hp2 NA19001.hp1 NA19012.hp2 NA19043.hp2 NA19091.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0001 a0003c0003 a0005c0018 a0002c0001 a0003c0003 a0005c0018	a0002c0001t0001 a0002c0001t0002 a0003c0003t0001 others(1): Show a0002c0001t0001 a0002c0001t0002 a0003c0003t0001 a0005c0018t0001	a0002c0001t0001g0231 a0002c0001t0001g0282 a0002c0001t0001g0284 others(4): Show a0002c0001t0001g0231 a0002c0001t0001g0282 a0002c0001t0001g0284 a0002c0001t0002g0276 a0003c0003t0001g0003 a0003c0003t0001g0055 a0005c0018t0001g0122	8	452	0.0177	9	c.845 others(24): Show c.845-835_845-834insCTTTCTTTT	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CA8_chr8_60180412_60286400	60285765	C C	CAAAAAAA others(2): Show CAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01192.hp2 HG01884.hp2 others(11): Show HG00741.hp2 HG01192.hp2 HG01884.hp2 HG02280.hp1 HG02717.hp2 HG02965.hp2 HG03041.hp1 HG03098.hp2 HG03453.hp2 HG04204.hp1 NA18997.hp1 NA19000.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0010 a0001c0002t0004 others(7): Show a0001c0001t0006 a0001c0001t0010 a0001c0002t0004 a0001c0002t0005 a0001c0002t0011 a0001c0002t0014 a0001c0002t0019 a0001c0002t0027 a0001c0002t0036 a0001c0002t0046	a0001c0001t0006g0028 a0001c0001t0010g0066 a0001c0002t0004g0100 others(11): Show a0001c0001t0006g0028 a0001c0001t0010g0066 a0001c0002t0004g0100 a0001c0002t0005g0096 a0001c0002t0005g0097 a0001c0002t0005g0101 a0001c0002t0011g0104 a0001c0002t0014g0099 a0001c0002t0014g0105 a0001c0002t0014g0106 a0001c0002t0019g0086 a0001c0002t0027g0087 a0001c0002t0036g0098 a0001c0002t0046g0201	14	344	0.0407	9	c.-46 others(20): Show c.-4619_-4618insTTTTTTTTT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding		4366		chr8	TogoVar
CAB39L_chr13_49303650_49449064	49346120	T T	TATATATA others(2): Show TATATATATC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00639.hp1 others(27): Show HG00099.hp1 HG00323.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01175.hp1 HG01261.hp2 HG01358.hp1 HG01496.hp1 HG01981.hp2 HG02109.hp2 HG02293.hp1 HG02615.hp1 HG02723.hp2 HG02970.hp2 HG03195.hp1 HG03225.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03710.hp1 HG03834.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0016	a0001c0001t0001g0094 a0001c0001t0001g0154 a0001c0001t0001g0159 others(27): Show a0001c0001t0001g0094 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0002g0052 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0171 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0185 a0001c0001t0002g0191 a0001c0001t0002g0198 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0252 a0001c0001t0002g0274 a0001c0001t0002g0300 a0001c0001t0002g0319 a0001c0001t0003g0012 a0001c0001t0003g0019 a0001c0001t0003g0022 a0001c0001t0016g0314	30	324	0.0926	9	c.565 others(26): Show c.565-1883_565-1882insGATATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49396097	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02630.hp1 HG02897.hp2 others(16): Show HG02071.hp2 HG02630.hp1 HG02897.hp2 HG03098.hp1 HG03225.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03834.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp2 NA18948.hp2 NA18969.hp2 NA18983.hp1 NA19007.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0020 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0095 a0001c0001t0001g0190 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0095 a0001c0001t0001g0190 a0001c0001t0002g0070 a0001c0001t0002g0319 a0001c0001t0003g0019 a0001c0001t0004g0062 a0001c0001t0005g0003 a0001c0001t0005g0057 a0001c0001t0005g0117 a0001c0001t0005g0120 a0001c0001t0005g0213 a0001c0001t0005g0214 a0001c0001t0010g0056 a0001c0001t0020g0011 a0001c0002t0001g0060 a0001c0002t0001g0310 a0001c0002t0001g0313	19	324	0.0586	9	c.-31 others(28): Show c.-31-13165_-31-13157dupTTTTTTTTT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	3/10			chr13	TogoVar
CAB39_chr2_230707842_230826075	230813978	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01255.hp1 HG02622.hp1 others(3): Show HG01069.hp1 HG01255.hp1 HG02622.hp1 HG02922.hp1 NA19087.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0002t0001	a0001c0001t0001g0065 a0001c0001t0001g0160 a0001c0001t0001g0237 others(3): Show a0001c0001t0001g0065 a0001c0001t0001g0160 a0001c0001t0001g0237 a0001c0001t0002g0096 a0001c0001t0011g0047 a0001c0002t0001g0083	6	342	0.0175	9	c.628 others(22): Show c.628-45_628-37dupTTTTTTTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CABCOCO1_chr10_61657929_61771766	61682889	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(130): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01928.hp1 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02155.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02523.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02735.hp1 HG02895.hp2 HG02922.hp2 HG03017.hp1 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03516.hp2 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18941.hp2 NA18944.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18960.hp1 NA18960.hp2 NA18969.hp2 NA18973.hp1 NA18974.hp1 NA18980.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18990.hp2 NA18991.hp1 NA18997.hp1 NA19000.hp2 NA19001.hp1 NA19004.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19075.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19089.hp2 NA19091.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0003t0002	a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0027 others(128): Show a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0138 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0172 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0320 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0356 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0365 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0212 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0311 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0321 a0001c0001t0002g0324 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0339 a0001c0001t0002g0341 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0004g0354 a0001c0001t0004g0360 a0001c0001t0004g0361 a0001c0001t0004g0362 a0001c0001t0004g0363 a0001c0001t0004g0364 a0001c0001t0004g0366 a0001c0002t0001g0081 a0001c0003t0002g0008 a0001c0003t0002g0304 a0001c0003t0002g0310 a0001c0003t0002g0318 a0001c0003t0002g0319 a0001c0003t0002g0325 a0001c0003t0002g0326 a0001c0003t0002g0327 a0001c0003t0002g0328 a0001c0003t0002g0334 a0001c0003t0002g0338 a0001c0003t0002g0340 a0001c0003t0002g0342 a0001c0003t0002g0345	133	374	0.3556	9	c.334 others(26): Show c.334+1584_334+1592dupTTTTTTTTT	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABLES2_chr20_62383634_62412285	62397962	A A	ATGGCGAT others(2): Show ATGGCGATGG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02976.hp2 HG03540.hp1 others(1): Show HG02818.hp2 HG02976.hp2 HG03540.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0017 a0001c0001t0006 a0001c0001t0017	a0001c0001t0006g0047 a0001c0001t0006g0181 a0001c0001t0017g0182 a0001c0001t0006g0047 a0001c0001t0006g0181 a0001c0001t0017g0182	4	400	0.0100	9	c.363 others(26): Show c.363-1371_363-1370insCCATCGCCA	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABLES2_chr20_62383634_62412285	62398089	C C	CGGTGGTG others(2): Show CGGTGGTGGT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00738.hp2 HG01884.hp1 others(11): Show HG00733.hp2 HG00738.hp2 HG01884.hp1 HG02056.hp1 HG02257.hp1 HG02451.hp1 HG02486.hp1 HG02622.hp1 HG03453.hp2 HG03669.hp1 HG03927.hp2 HG04115.hp2 HG04204.hp1 NA18522.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0012	a0001c0001 a0004c0007 a0005c0009 others(1): Show a0001c0001 a0004c0007 a0005c0009 a0012c0022	a0001c0001t0005 a0004c0007t0003 a0005c0009t0023 others(1): Show a0001c0001t0005 a0004c0007t0003 a0005c0009t0023 a0012c0022t0003	a0001c0001t0005g0170 a0004c0007t0003g0044 a0004c0007t0003g0045 others(9): Show a0001c0001t0005g0170 a0004c0007t0003g0044 a0004c0007t0003g0045 a0004c0007t0003g0080 a0004c0007t0003g0168 a0004c0007t0003g0169 a0004c0007t0003g0171 a0004c0007t0003g0173 a0004c0007t0003g0176 a0004c0007t0003g0214 a0005c0009t0023g0060 a0012c0022t0003g0233	14	400	0.0350	9	c.363 others(26): Show c.363-1506_363-1498dupACCACCACC	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABP1_chr12_120635626_120672324	120642995	G G	GAAAAAAA others(2): Show GAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp1 HG00741.hp1 others(39): Show HG00280.hp2 HG00735.hp1 HG00741.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01192.hp1 HG01261.hp2 HG01515.hp1 HG01891.hp1 HG01943.hp1 HG02004.hp2 HG02055.hp2 HG02148.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp1 NA19043.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0025 others(29): Show a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0292 a0002c0002t0001g0023	42	418	0.1005	9	c.654 others(26): Show c.654+1665_654+1673dupAAAAAAAAA	CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
CABP5_chr19_48024383_48049079	48037259	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01192.hp1 HG01243.hp1 others(26): Show HG01167.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01358.hp1 HG01515.hp1 HG02055.hp1 HG02258.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03540.hp2 HG03704.hp1 HG03704.hp2 NA18964.hp2 NA18968.hp1 NA19000.hp1 NA19084.hp1 NA20129.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0015 a0001c0001 a0007c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0020 a0001c0001t0023 a0007c0015t0073	a0001c0001t0001g0011 a0001c0001t0001g0045 a0001c0001t0001g0293 others(18): Show a0001c0001t0001g0011 a0001c0001t0001g0045 a0001c0001t0001g0293 a0001c0001t0003g0008 a0001c0001t0003g0031 a0001c0001t0003g0086 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0005g0159 a0001c0001t0007g0021 a0001c0001t0007g0026 a0001c0001t0007g0096 a0001c0001t0007g0097 a0001c0001t0007g0139 a0001c0001t0020g0163 a0001c0001t0023g0158 a0007c0015t0073g0179	29	376	0.0771	9	c.348 others(26): Show c.348+1940_348+1948dupAAAAAAAAA	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	4/5			chr19	TogoVar
CABYR_chr18_24134062_24166600	24157619	C C	CCGGCACT others(2): Show CCGGCACTTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG02055.hp2 others(11): Show HG01069.hp2 HG01071.hp2 HG02055.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp1 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03516.hp2 HG03540.hp1 NA19240.hp2	a0001 a0001	a0001c0007 a0001c0014 a0001c0016 others(2): Show a0001c0007 a0001c0014 a0001c0016 a0001c0036 a0001c0046	a0001c0007t0001 a0001c0014t0001 a0001c0016t0001 others(2): Show a0001c0007t0001 a0001c0014t0001 a0001c0016t0001 a0001c0036t0001 a0001c0046t0001	a0001c0007t0001g0170 a0001c0007t0001g0178 a0001c0007t0001g0179 others(9): Show a0001c0007t0001g0170 a0001c0007t0001g0178 a0001c0007t0001g0179 a0001c0014t0001g0038 a0001c0014t0001g0109 a0001c0014t0001g0173 a0001c0014t0001g0174 a0001c0016t0001g0039 a0001c0016t0001g0172 a0001c0016t0001g0177 a0001c0036t0001g0176 a0001c0046t0001g0175	14	408	0.0343	9	c.541 others(26): Show c.541+1587_541+1595dupCGGCACTTG	CABYR	ENSG00000154040.21	transcript	ENST00000399496.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
CACFD1_chr9_133454978_133475848	133458555	C C	CAAAAAAA others(2): Show CAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00544.hp1 others(62): Show HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp2 HG01074.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01884.hp1 HG01978.hp1 HG01981.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02135.hp2 HG02738.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03491.hp2 HG03579.hp1 HG03927.hp1 HG04115.hp1 HG04199.hp1 HG04199.hp2 NA18943.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18968.hp1 NA18969.hp2 NA18977.hp2 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19058.hp1 NA19058.hp2 NA19066.hp2 NA19080.hp1 NA19090.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0012 a0001c0014 others(1): Show a0001c0001 a0001c0012 a0001c0014 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0023 a0001c0001t0030 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0048 a0001c0001t0050 a0001c0001t0053 a0001c0012t0002 a0001c0014t0001 a0002c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0002g0004 others(33): Show a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0026 a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0003g0001 a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0004g0001 a0001c0001t0004g0100 a0001c0001t0004g0105 a0001c0001t0005g0067 a0001c0001t0005g0108 a0001c0001t0008g0003 a0001c0001t0009g0037 a0001c0001t0010g0011 a0001c0001t0011g0001 a0001c0001t0012g0024 a0001c0001t0023g0058 a0001c0001t0030g0007 a0001c0001t0033g0039 a0001c0001t0035g0006 a0001c0001t0036g0001 a0001c0001t0048g0072 a0001c0001t0050g0001 a0001c0001t0053g0045 a0001c0012t0002g0084 a0001c0014t0001g0087 a0002c0008t0001g0001	65	420	0.1548	9	c.-15 others(20): Show c.-1512_-1511insAAAAAAAAA	CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding		1422		chr9	TogoVar
CACHD1_chr1_64465129_64698053	64681541	G G	GGTTTTTT others(2): Show GGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00597.hp2 others(40): Show HG00099.hp1 HG00140.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01258.hp2 HG02258.hp2 HG02293.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03225.hp1 HG03486.hp1 HG03942.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18962.hp2 NA19030.hp1 NA19056.hp1 NA19070.hp1 NA19240.hp1 NA21309.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0003c0010 others(1): Show a0001c0001 a0001c0002 a0003c0010 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0017 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0003c0010t0001 a0005c0006t0004	a0001c0001t0001g0027 a0001c0001t0001g0043 a0001c0001t0001g0045 others(40): Show a0001c0001t0001g0027 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0058 a0001c0001t0001g0071 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0116 a0001c0001t0001g0161 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0129 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0149 a0001c0001t0003g0162 a0001c0001t0005g0011 a0001c0001t0006g0068 a0001c0001t0006g0075 a0001c0001t0007g0130 a0001c0001t0008g0005 a0001c0001t0008g0009 a0001c0001t0016g0014 a0001c0001t0017g0044 a0001c0002t0001g0018 a0001c0002t0001g0023 a0001c0002t0001g0031 a0001c0002t0001g0083 a0001c0002t0001g0102 a0001c0002t0001g0112 a0001c0002t0001g0163 a0001c0002t0002g0038 a0001c0002t0002g0153 a0001c0002t0003g0063 a0001c0002t0005g0004 a0001c0002t0006g0069 a0001c0002t0009g0098 a0003c0010t0001g0088 a0005c0006t0004g0041	43	166	0.2590	9	c.348 others(26): Show c.3484+206_3484+207insGTTTTTTTT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	25/26			chr1	TogoVar
CACNA1A_chr19_13201442_13511479	13399394	G G	GAGAAGAA others(2): Show GAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03516.hp2 HG06807.hp2 HG01884.hp1 HG03516.hp2 HG06807.hp2	a0003 a0004 a0003 a0004	a0003c0035 a0004c0123 a0003c0035 a0004c0123	a0003c0035t0016 a0003c0035t0024 a0004c0123t0009 a0003c0035t0016 a0003c0035t0024 a0004c0123t0009	a0003c0035t0016g0076 a0003c0035t0024g0005 a0004c0123t0009g0077 a0003c0035t0016g0076 a0003c0035t0024g0005 a0004c0123t0009g0077	3	218	0.0138	9	c.540 others(28): Show c.540-27624_540-27616dupTCTTCTTCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1C_chr12_2047987_2702950	2080272	C C	CAAAAACA others(2): Show CAAAAACAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01071.hp1 others(98): Show HG00140.hp1 HG00140.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18966.hp1 NA18966.hp2 NA18989.hp1 NA18989.hp2 NA19003.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(37): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0015 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0024 a0001c0025 a0001c0026 a0001c0029 a0001c0031 a0001c0032 a0001c0033 a0001c0036 a0001c0037 a0001c0038 a0002c0009 a0002c0013 a0002c0040 a0003c0016 a0003c0023 a0003c0027 a0003c0035 a0004c0034 a0004c0039 a0005c0030 a0006c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(72): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0024 a0001c0001t0028 a0001c0001t0043 a0001c0001t0045 a0001c0002t0001 a0001c0002t0003 a0001c0002t0029 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0008 a0001c0003t0009 a0001c0003t0010 a0001c0003t0018 a0001c0003t0037 a0001c0003t0040 a0001c0003t0044 a0001c0004t0004 a0001c0004t0010 a0001c0004t0023 a0001c0004t0036 a0001c0005t0002 a0001c0005t0010 a0001c0005t0026 a0001c0006t0001 a0001c0006t0003 a0001c0007t0005 a0001c0007t0006 a0001c0008t0033 a0001c0008t0038 a0001c0010t0003 a0001c0010t0008 a0001c0011t0014 a0001c0011t0030 a0001c0012t0007 a0001c0014t0032 a0001c0014t0039 a0001c0015t0034 a0001c0017t0006 a0001c0018t0042 a0001c0019t0003 a0001c0020t0002 a0001c0021t0027 a0001c0022t0014 a0001c0024t0003 a0001c0025t0007 a0001c0026t0003 a0001c0029t0019 a0001c0031t0002 a0001c0032t0031 a0001c0033t0020 a0001c0036t0007 a0001c0037t0006 a0001c0038t0041 a0002c0009t0012 a0002c0013t0016 a0002c0013t0035 a0002c0040t0016 a0003c0016t0011 a0003c0023t0011 a0003c0027t0011 a0003c0035t0025 a0004c0034t0009 a0004c0039t0009 a0005c0030t0001 a0006c0028t0006	a0001c0001t0001g0029 a0001c0001t0002g0001 a0001c0001t0002g0027 others(98): Show a0001c0001t0001g0029 a0001c0001t0002g0001 a0001c0001t0002g0027 a0001c0001t0002g0049 a0001c0001t0002g0096 a0001c0001t0003g0063 a0001c0001t0004g0005 a0001c0001t0004g0008 a0001c0001t0004g0038 a0001c0001t0004g0104 a0001c0001t0005g0015 a0001c0001t0005g0042 a0001c0001t0005g0097 a0001c0001t0013g0014 a0001c0001t0013g0024 a0001c0001t0015g0030 a0001c0001t0015g0034 a0001c0001t0017g0004 a0001c0001t0017g0101 a0001c0001t0021g0055 a0001c0001t0024g0080 a0001c0001t0028g0081 a0001c0001t0043g0032 a0001c0001t0045g0052 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0026 a0001c0002t0001g0036 a0001c0002t0001g0043 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0094 a0001c0002t0003g0056 a0001c0002t0003g0065 a0001c0002t0029g0037 a0001c0003t0001g0009 a0001c0003t0002g0045 a0001c0003t0005g0031 a0001c0003t0008g0057 a0001c0003t0008g0059 a0001c0003t0009g0085 a0001c0003t0010g0019 a0001c0003t0018g0068 a0001c0003t0037g0003 a0001c0003t0040g0011 a0001c0003t0044g0053 a0001c0004t0004g0084 a0001c0004t0004g0086 a0001c0004t0010g0020 a0001c0004t0023g0028 a0001c0004t0036g0099 a0001c0005t0002g0090 a0001c0005t0002g0098 a0001c0005t0010g0089 a0001c0005t0026g0079 a0001c0006t0001g0033 a0001c0006t0001g0102 a0001c0006t0003g0069 a0001c0007t0005g0002 a0001c0007t0006g0074 a0001c0008t0033g0051 a0001c0008t0038g0044 a0001c0010t0003g0054 a0001c0010t0008g0064 a0001c0011t0014g0007 a0001c0011t0030g0039 a0001c0012t0007g0046 a0001c0012t0007g0076 a0001c0014t0032g0023 a0001c0014t0039g0095 a0001c0015t0034g0075 a0001c0017t0006g0006 a0001c0018t0042g0083 a0001c0019t0003g0071 a0001c0020t0002g0010 a0001c0021t0027g0087 a0001c0022t0014g0050 a0001c0024t0003g0067 a0001c0025t0007g0012 a0001c0026t0003g0066 a0001c0029t0019g0060 a0001c0031t0002g0021 a0001c0032t0031g0103 a0001c0033t0020g0070 a0001c0036t0007g0100 a0001c0037t0006g0025 a0001c0038t0041g0047 a0002c0009t0012g0061 a0002c0009t0012g0062 a0002c0013t0016g0022 a0002c0013t0035g0035 a0002c0040t0016g0073 a0003c0016t0011g0082 a0003c0023t0011g0048 a0003c0027t0011g0013 a0003c0035t0025g0078 a0004c0034t0009g0041 a0004c0039t0009g0040 a0005c0030t0001g0077 a0006c0028t0006g0072	101	104	0.9712	9	c.49+ others(26): Show c.49+26671_49+26679dupAAAAACAAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2396505	G G	GGGAATGT others(2): Show GGGAATGTGC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02145.hp2 HG02257.hp2 others(22): Show HG01071.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02683.hp1 HG02723.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 NA18906.hp2 NA18989.hp2 NA19030.hp2 NA19043.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0011 a0001c0017 a0001c0020 a0001c0022 a0001c0025 a0001c0026 a0001c0032 a0001c0033 a0002c0013 a0003c0023 a0004c0039	a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 others(20): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0001t0021 a0001c0001t0045 a0001c0002t0001 a0001c0002t0003 a0001c0003t0005 a0001c0003t0037 a0001c0003t0040 a0001c0006t0001 a0001c0011t0014 a0001c0011t0030 a0001c0017t0006 a0001c0020t0002 a0001c0022t0014 a0001c0025t0007 a0001c0026t0003 a0001c0032t0031 a0001c0033t0020 a0002c0013t0035 a0003c0023t0011 a0004c0039t0009	a0001c0001t0004g0008 a0001c0001t0005g0042 a0001c0001t0015g0034 others(22): Show a0001c0001t0004g0008 a0001c0001t0005g0042 a0001c0001t0015g0034 a0001c0001t0021g0055 a0001c0001t0045g0052 a0001c0002t0001g0026 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0003g0065 a0001c0003t0005g0031 a0001c0003t0037g0003 a0001c0003t0040g0011 a0001c0006t0001g0102 a0001c0011t0014g0007 a0001c0011t0030g0039 a0001c0017t0006g0006 a0001c0020t0002g0010 a0001c0022t0014g0050 a0001c0025t0007g0012 a0001c0026t0003g0066 a0001c0032t0031g0103 a0001c0033t0020g0070 a0002c0013t0035g0035 a0003c0023t0011g0048 a0004c0039t0009g0040	25	104	0.2404	9	c.478 others(28): Show c.478-52470_478-52462dupGGAATGTGC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1D_chr3_53489611_53818733	53621355	A A	ACCTGTGT others(2): Show ACCTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00639.hp2 others(10): Show HG00280.hp1 HG00323.hp2 HG00639.hp2 HG00642.hp1 HG01109.hp2 HG01256.hp1 HG01346.hp1 HG01361.hp2 HG02027.hp2 HG02132.hp1 HG03041.hp1 HG03471.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0021 a0001c0001t0022 a0001c0001t0073 a0001c0002t0009 a0001c0002t0065 a0001c0002t0082 a0001c0004t0003 a0001c0009t0017	a0001c0001t0001g0136 a0001c0001t0002g0122 a0001c0001t0004g0160 others(10): Show a0001c0001t0001g0136 a0001c0001t0002g0122 a0001c0001t0004g0160 a0001c0001t0004g0207 a0001c0001t0021g0130 a0001c0001t0021g0131 a0001c0001t0022g0056 a0001c0001t0073g0203 a0001c0002t0009g0210 a0001c0002t0065g0201 a0001c0002t0082g0024 a0001c0004t0003g0079 a0001c0009t0017g0085	13	210	0.0619	9	c.484 others(28): Show c.484-29421_484-29413dupTGTGTGTCC	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53651366	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01884.hp1 HG02809.hp2 others(5): Show HG01496.hp2 HG01884.hp1 HG02809.hp2 HG02886.hp1 HG02976.hp1 HG03139.hp1 HG03540.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0003 a0001c0002t0010 a0001c0002t0018 others(5): Show a0001c0001t0003 a0001c0002t0010 a0001c0002t0018 a0001c0002t0030 a0001c0002t0063 a0001c0002t0070 a0001c0002t0083 a0001c0012t0006	a0001c0001t0003g0128 a0001c0002t0010g0190 a0001c0002t0018g0029 others(5): Show a0001c0001t0003g0128 a0001c0002t0010g0190 a0001c0002t0018g0029 a0001c0002t0030g0196 a0001c0002t0063g0191 a0001c0002t0070g0043 a0001c0002t0083g0209 a0001c0012t0006g0132	8	210	0.0381	9	c.623 others(24): Show c.623+462_623+470dupTTTTTTTTT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	4/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53682365	T T	TAAAAAAA others(2): Show TAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02723.hp1 HG02965.hp1 others(5): Show HG00323.hp1 HG02723.hp1 HG02965.hp1 HG03017.hp1 HG04199.hp1 NA19240.hp1 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0009	a0001c0001t0001 a0001c0002t0013 a0001c0002t0025 others(5): Show a0001c0001t0001 a0001c0002t0013 a0001c0002t0025 a0001c0002t0027 a0001c0004t0008 a0001c0008t0005 a0001c0009t0029 a0001c0009t0056	a0001c0001t0001g0002 a0001c0002t0013g0003 a0001c0002t0025g0067 others(5): Show a0001c0001t0001g0002 a0001c0002t0013g0003 a0001c0002t0025g0067 a0001c0002t0027g0186 a0001c0004t0008g0048 a0001c0008t0005g0058 a0001c0009t0029g0185 a0001c0009t0056g0184	8	210	0.0381	9	c.122 others(28): Show c.1220+8572_1220+8580dupAAAAAAAAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	8/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53810758	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03516.hp1 HG06807.hp1 others(2): Show HG03471.hp2 HG03516.hp1 HG06807.hp1 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0021 a0001c0002 a0001c0007 a0001c0021	a0001c0002t0036 a0001c0007t0031 a0001c0007t0066 others(1): Show a0001c0002t0036 a0001c0007t0031 a0001c0007t0066 a0001c0021t0035	a0001c0002t0036g0202 a0001c0007t0031g0187 a0001c0007t0031g0194 others(2): Show a0001c0002t0036g0202 a0001c0007t0031g0187 a0001c0007t0031g0194 a0001c0007t0066g0199 a0001c0021t0035g0205	5	210	0.0238	9	c.625 others(26): Show c.6253-335_6253-327dupAAAAAAAAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	48/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1E_chr1_181478517_181813084	181548120	T T	TTTTATTT others(2): Show TTTTATTTTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00673.hp1 others(11): Show HG00280.hp2 HG00438.hp2 HG00673.hp1 HG01361.hp2 HG02132.hp1 HG02602.hp2 HG02717.hp1 HG02809.hp2 HG02922.hp1 HG02976.hp1 HG03209.hp2 HG04199.hp2 NA18983.hp2 NA19082.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0006 a0002c0002 others(3): Show a0001c0001 a0001c0006 a0002c0002 a0003c0003 a0005c0013 a0005c0027	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0006t0011 a0002c0002t0013 a0002c0002t0014 a0002c0002t0037 a0002c0002t0057 a0003c0003t0004 a0003c0003t0010 a0005c0013t0020 a0005c0027t0027	a0001c0001t0002g0126 a0001c0001t0003g0134 a0001c0001t0006g0123 others(11): Show a0001c0001t0002g0126 a0001c0001t0003g0134 a0001c0001t0006g0123 a0001c0001t0009g0132 a0001c0001t0009g0135 a0001c0006t0011g0158 a0002c0002t0013g0162 a0002c0002t0014g0125 a0002c0002t0037g0128 a0002c0002t0057g0168 a0003c0003t0004g0124 a0003c0003t0010g0127 a0005c0013t0020g0194 a0005c0027t0027g0174	14	206	0.0680	9	c.513 others(28): Show c.513-29643_513-29642insATTTTCTTT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181548120	T T	TTTTTTTT others(2): Show TTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00408.hp1 others(70): Show HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00741.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02015.hp1 HG02040.hp2 HG02071.hp1 HG02135.hp1 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02602.hp1 HG02698.hp2 HG02723.hp2 HG02895.hp1 HG02965.hp2 HG03017.hp1 HG03139.hp2 HG03225.hp2 HG03471.hp1 HG03492.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG06807.hp1 NA18942.hp2 NA18964.hp1 NA18968.hp1 NA18972.hp1 NA18972.hp2 NA18977.hp2 NA18988.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19084.hp2 NA19085.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0009 a0012	a0001c0001 a0001c0004 a0001c0005 others(12): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0011 a0001c0012 a0001c0015 a0001c0020 a0001c0026 a0002c0002 a0003c0003 a0004c0007 a0009c0021 a0012c0016	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(47): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0039 a0001c0001t0043 a0001c0001t0052 a0001c0001t0063 a0001c0001t0064 a0001c0001t0066 a0001c0001t0076 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0031 a0001c0004t0045 a0001c0005t0032 a0001c0006t0002 a0001c0006t0004 a0001c0009t0040 a0001c0011t0004 a0001c0012t0038 a0001c0015t0047 a0001c0020t0031 a0001c0026t0042 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0010 a0002c0002t0015 a0002c0002t0021 a0002c0002t0034 a0002c0002t0044 a0002c0002t0050 a0002c0002t0053 a0003c0003t0001 a0003c0003t0005 a0003c0003t0014 a0003c0003t0023 a0003c0003t0060 a0004c0007t0001 a0004c0007t0023 a0004c0007t0046 a0009c0021t0002 a0012c0016t0055	a0001c0001t0002g0195 a0001c0001t0003g0044 a0001c0001t0003g0130 others(70): Show a0001c0001t0002g0195 a0001c0001t0003g0044 a0001c0001t0003g0130 a0001c0001t0005g0015 a0001c0001t0005g0086 a0001c0001t0006g0042 a0001c0001t0006g0050 a0001c0001t0006g0075 a0001c0001t0006g0131 a0001c0001t0007g0188 a0001c0001t0009g0049 a0001c0001t0009g0085 a0001c0001t0011g0092 a0001c0001t0016g0133 a0001c0001t0016g0181 a0001c0001t0017g0045 a0001c0001t0017g0046 a0001c0001t0039g0093 a0001c0001t0043g0077 a0001c0001t0052g0081 a0001c0001t0063g0026 a0001c0001t0064g0013 a0001c0001t0066g0070 a0001c0001t0076g0087 a0001c0004t0001g0186 a0001c0004t0002g0101 a0001c0004t0002g0160 a0001c0004t0002g0199 a0001c0004t0004g0072 a0001c0004t0004g0137 a0001c0004t0004g0185 a0001c0004t0031g0095 a0001c0004t0045g0047 a0001c0005t0032g0029 a0001c0006t0002g0205 a0001c0006t0004g0014 a0001c0006t0004g0019 a0001c0006t0004g0102 a0001c0009t0040g0141 a0001c0011t0004g0091 a0001c0012t0038g0002 a0001c0015t0047g0027 a0001c0020t0031g0074 a0001c0026t0042g0025 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0140 a0002c0002t0003g0043 a0002c0002t0003g0051 a0002c0002t0003g0084 a0002c0002t0003g0157 a0002c0002t0003g0159 a0002c0002t0007g0090 a0002c0002t0007g0094 a0002c0002t0010g0024 a0002c0002t0015g0048 a0002c0002t0015g0108 a0002c0002t0021g0115 a0002c0002t0034g0080 a0002c0002t0044g0053 a0002c0002t0050g0197 a0002c0002t0053g0104 a0003c0003t0001g0033 a0003c0003t0001g0076 a0003c0003t0005g0083 a0003c0003t0014g0082 a0003c0003t0023g0182 a0003c0003t0060g0079 a0004c0007t0001g0016 a0004c0007t0023g0011 a0004c0007t0046g0007 a0009c0021t0002g0098 a0012c0016t0055g0156	73	206	0.3544	9	c.513 others(28): Show c.513-29637_513-29629dupCTTTTTTTT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1I_chr22_39565753_39694735	39596214	T T	TGGGGAGC others(2): Show TGGGGAGCAG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02080.hp1 HG02083.hp2 HG01516.hp2 HG02080.hp1 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0002t0003 a0001c0001t0003 a0001c0002t0002 a0001c0002t0003	a0001c0001t0003g0151 a0001c0002t0002g0206 a0001c0002t0003g0186 a0001c0001t0003g0151 a0001c0002t0002g0206 a0001c0002t0003g0186	3	236	0.0127	9	c.237 others(26): Show c.237-1935_237-1934insGGAGCAGGG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39601903	C C	CTTCCTTC others(2): Show CTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02145.hp1 HG02280.hp1 others(7): Show HG00140.hp2 HG02145.hp1 HG02280.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG03139.hp1 NA19030.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0014 a0002c0003 a0002c0031 others(1): Show a0001c0014 a0002c0003 a0002c0031 a0012c0021	a0001c0014t0001 a0002c0003t0001 a0002c0003t0009 others(3): Show a0001c0014t0001 a0002c0003t0001 a0002c0003t0009 a0002c0003t0010 a0002c0031t0003 a0012c0021t0022	a0001c0014t0001g0045 a0002c0003t0001g0048 a0002c0003t0001g0049 others(7): Show a0001c0014t0001g0045 a0002c0003t0001g0048 a0002c0003t0001g0049 a0002c0003t0001g0051 a0002c0003t0001g0073 a0002c0003t0009g0054 a0002c0003t0010g0047 a0002c0031t0003g0080 a0002c0031t0003g0081 a0012c0021t0022g0087	10	236	0.0424	9	c.482 others(26): Show c.482+1251_482+1252insTCCTTCCTT	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1S_chr1_201034512_201117426	201046174	A A	ATTTATTT others(2): Show ATTTATTTAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG01891.hp1 others(28): Show HG00408.hp1 HG00597.hp1 HG01891.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02165.hp1 HG02293.hp1 HG02965.hp1 HG03098.hp2 HG03540.hp1 HG03688.hp1 HG04115.hp1 HG04115.hp2 HG06807.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp1 NA18959.hp2 NA18986.hp2 NA19062.hp1 NA19062.hp2 NA19070.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0001c0011 a0001c0016 a0001c0021 a0001c0026 a0001c0031 a0002c0012 a0002c0045	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(10): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0007t0001 a0001c0009t0001 a0001c0011t0001 a0001c0016t0001 a0001c0021t0001 a0001c0026t0001 a0001c0031t0001 a0002c0012t0001 a0002c0045t0001	a0001c0001t0001g0079 a0001c0001t0001g0109 a0001c0001t0001g0128 others(28): Show a0001c0001t0001g0079 a0001c0001t0001g0109 a0001c0001t0001g0128 a0001c0001t0001g0201 a0001c0001t0001g0217 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0002t0001g0028 a0001c0002t0001g0119 a0001c0002t0001g0148 a0001c0002t0001g0204 a0001c0002t0001g0231 a0001c0002t0001g0277 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0004t0001g0040 a0001c0004t0001g0108 a0001c0007t0001g0062 a0001c0007t0001g0216 a0001c0009t0001g0053 a0001c0009t0001g0265 a0001c0011t0001g0278 a0001c0016t0001g0129 a0001c0021t0001g0232 a0001c0026t0001g0027 a0001c0031t0001g0048 a0001c0031t0001g0209 a0002c0012t0001g0256 a0002c0045t0001g0219	31	314	0.0987	9	c.466 others(26): Show c.4668+940_4668+941insATAAATAAA	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	38/43			chr1	TogoVar
CACNA2D1_chr7_81941444_82448777	81955980	A A	ATATATAT others(2): Show ATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03834.hp2 NA18952.hp1 others(3): Show HG00639.hp1 HG03834.hp2 NA18952.hp1 NA18961.hp2 NA19060.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0042 a0001c0001t0004g0050 a0001c0001t0006g0115 others(3): Show a0001c0001t0004g0042 a0001c0001t0004g0050 a0001c0001t0006g0115 a0001c0001t0006g0124 a0001c0001t0006g0125 a0001c0001t0006g0142	6	144	0.0417	9	c.315 others(28): Show c.3159+3294_3159+3295insATATATATA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	38/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82060180	T T	TATATATA others(2): Show TATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02895.hp2 HG02922.hp1 others(1): Show HG01884.hp2 HG02895.hp2 HG02922.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012	a0001c0001t0001g0012 a0001c0001t0003g0062 a0001c0001t0005g0126 others(1): Show a0001c0001t0001g0012 a0001c0001t0003g0062 a0001c0001t0005g0126 a0001c0001t0012g0127	4	144	0.0278	9	c.879 others(24): Show c.879+239_879+247dupTATATATAT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	10/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82136546	C C	CTTAAAAA others(2): Show CTTAAAAACT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01192.hp2 HG01243.hp2 others(15): Show HG00642.hp2 HG01192.hp2 HG01243.hp2 HG01258.hp1 HG01884.hp1 HG02257.hp2 HG02559.hp2 HG02572.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02922.hp1 HG03195.hp2 HG03453.hp1 NA18906.hp1 NA18952.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0018 a0001c0003t0001 a0001c0003t0002 a0001c0007t0003 a0001c0008t0001	a0001c0001t0001g0012 a0001c0001t0001g0068 a0001c0001t0003g0005 others(15): Show a0001c0001t0001g0012 a0001c0001t0001g0068 a0001c0001t0003g0005 a0001c0001t0004g0031 a0001c0001t0005g0101 a0001c0001t0005g0139 a0001c0001t0007g0081 a0001c0001t0008g0043 a0001c0001t0008g0073 a0001c0001t0012g0127 a0001c0001t0018g0135 a0001c0003t0001g0011 a0001c0003t0001g0025 a0001c0003t0001g0061 a0001c0003t0001g0072 a0001c0003t0002g0137 a0001c0007t0003g0075 a0001c0008t0001g0004	18	144	0.1250	9	c.396 others(22): Show c.396+88_396+89insAGTTTTTAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	5/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82139945	C C	CTATTATT others(2): Show CTATTATTAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01192.hp1 HG01884.hp2 others(15): Show HG01123.hp1 HG01192.hp1 HG01884.hp2 HG02109.hp1 HG02109.hp2 HG02451.hp2 HG02572.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02809.hp2 HG02895.hp1 HG03041.hp1 HG03130.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0004t0006	a0001c0001t0001g0010 a0001c0001t0001g0049 a0001c0001t0001g0058 others(15): Show a0001c0001t0001g0010 a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0062 a0001c0001t0003g0067 a0001c0001t0005g0110 a0001c0001t0005g0136 a0001c0001t0008g0083 a0001c0001t0009g0065 a0001c0001t0011g0028 a0001c0002t0001g0017 a0001c0002t0001g0030 a0001c0002t0001g0064 a0001c0002t0002g0108 a0001c0003t0001g0061 a0001c0004t0006g0104	18	144	0.1250	9	c.355 others(26): Show c.355-3278_355-3270dupATAATAATA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82183762	T T	TAGGTACA others(2): Show TAGGTACACA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03098.hp1 HG03471.hp2 others(1): Show HG02818.hp2 HG03098.hp1 HG03471.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0020 a0001c0001t0002 a0001c0001t0003 a0001c0001t0020	a0001c0001t0002g0097 a0001c0001t0003g0076 a0001c0001t0003g0086 others(1): Show a0001c0001t0002g0097 a0001c0001t0003g0076 a0001c0001t0003g0086 a0001c0001t0020g0114	4	144	0.0278	9	c.295 others(28): Show c.295-13154_295-13153insTGTGTACCT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82297072	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01258.hp2 HG02559.hp2 others(2): Show HG01243.hp1 HG01258.hp2 HG02559.hp2 HG02572.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 others(2): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0002t0001	a0001c0001t0004g0046 a0001c0001t0008g0073 a0001c0001t0009g0080 others(2): Show a0001c0001t0004g0046 a0001c0001t0008g0073 a0001c0001t0009g0080 a0001c0001t0011g0028 a0001c0002t0001g0017	5	144	0.0347	9	c.294 others(28): Show c.294+38054_294+38062dupTTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D2_chr3_50357613_50508634	50462430	A A	AATAATAA others(2): Show AATAATAATG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02970.hp1 HG03098.hp1 others(2): Show HG02572.hp1 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0001 a0001c0002t0006	a0001c0001t0001g0040 a0001c0002t0001g0079 a0001c0002t0001g0090 others(2): Show a0001c0001t0001g0040 a0001c0002t0001g0079 a0001c0002t0001g0090 a0001c0002t0001g0224 a0001c0002t0006g0010	5	234	0.0214	9	c.288 others(28): Show c.288+13687_288+13688insCATTATTAT	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	2/37			chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54171136	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00639.hp1 others(9): Show HG00280.hp2 HG00438.hp1 HG00639.hp1 HG01123.hp1 HG02080.hp2 HG02300.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG04115.hp1 NA18951.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0011 a0001c0015 a0001c0033	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0009t0008 a0001c0011t0001 a0001c0015t0001 a0001c0033t0001	a0001c0001t0001g0083 a0001c0001t0001g0104 a0001c0001t0001g0107 others(9): Show a0001c0001t0001g0083 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0002t0001g0004 a0001c0003t0001g0011 a0001c0004t0001g0031 a0001c0005t0001g0111 a0001c0006t0001g0017 a0001c0009t0008g0077 a0001c0011t0001g0109 a0001c0015t0001g0108 a0001c0033t0001g0114	12	118	0.1017	9	c.204 others(28): Show c.204+47556_204+47564dupTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54191397	A A	ACATCATC others(2): Show ACATCATCAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01169.hp1 HG02080.hp1 others(1): Show HG00099.hp2 HG01169.hp1 HG02080.hp1 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0015 a0001c0001 a0001c0003 a0001c0015	a0001c0001t0001 a0001c0003t0001 a0001c0015t0001 a0001c0001t0001 a0001c0003t0001 a0001c0015t0001	a0001c0001t0001g0046 a0001c0003t0001g0101 a0001c0003t0001g0112 others(1): Show a0001c0001t0001g0046 a0001c0003t0001g0101 a0001c0003t0001g0112 a0001c0015t0001g0108	4	118	0.0339	9	c.204 others(28): Show c.204+67834_204+67842dupCATCATCAT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54678720	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01070.hp2 HG01106.hp1 others(3): Show HG00099.hp2 HG01070.hp2 HG01106.hp1 HG02080.hp1 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0035 a0001c0003 a0001c0004 a0001c0035	a0001c0003t0001 a0001c0004t0002 a0001c0035t0001 a0001c0003t0001 a0001c0004t0002 a0001c0035t0001	a0001c0003t0001g0084 a0001c0003t0001g0101 a0001c0003t0001g0110 others(3): Show a0001c0003t0001g0084 a0001c0003t0001g0101 a0001c0003t0001g0110 a0001c0003t0001g0112 a0001c0004t0002g0008 a0001c0035t0001g0049	6	118	0.0509	9	c.116 others(30): Show c.1167+36500_1167+36508dupAAAAAAAAA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54689010	A A	AAAAAAAG others(2): Show AAAAAAAGAG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02965.hp1 HG02970.hp1 others(1): Show HG02717.hp2 HG02965.hp1 HG02970.hp1 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0019 others(1): Show a0001c0002 a0001c0009 a0001c0019 a0001c0039	a0001c0002t0001 a0001c0009t0001 a0001c0019t0001 others(1): Show a0001c0002t0001 a0001c0009t0001 a0001c0019t0001 a0001c0039t0001	a0001c0002t0001g0070 a0001c0009t0001g0013 a0001c0019t0001g0075 others(1): Show a0001c0002t0001g0070 a0001c0009t0001g0013 a0001c0019t0001g0075 a0001c0039t0001g0047	4	118	0.0339	9	c.116 others(30): Show c.1167+46770_1167+46771insAAAAAGAGA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54832013	A A	ATACACAC others(2): Show ATACACACAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02895.hp2 others(1): Show HG02258.hp2 HG02280.hp2 HG02895.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 a0001c0001t0001 a0001c0002t0001 a0001c0007t0001	a0001c0001t0001g0045 a0001c0002t0001g0039 a0001c0007t0001g0043 others(1): Show a0001c0001t0001g0045 a0001c0002t0001g0039 a0001c0007t0001g0043 a0001c0007t0001g0067	4	118	0.0339	9	c.139 others(28): Show c.1399-5146_1399-5145insTACACACAG	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37			chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54883823	C C	CTCTCTCT others(2): Show CTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01106.hp2 HG01258.hp1 others(3): Show HG00639.hp2 HG01106.hp2 HG01258.hp1 HG01884.hp1 HG02109.hp2 HG06807.hp1	a0001 a0001	a0001c0008 a0001c0016 a0001c0018 others(1): Show a0001c0008 a0001c0016 a0001c0018 a0001c0023	a0001c0008t0001 a0001c0016t0005 a0001c0018t0001 others(1): Show a0001c0008t0001 a0001c0016t0005 a0001c0018t0001 a0001c0023t0001	a0001c0008t0001g0074 a0001c0008t0001g0092 a0001c0008t0001g0103 others(3): Show a0001c0008t0001g0074 a0001c0008t0001g0092 a0001c0008t0001g0103 a0001c0016t0005g0116 a0001c0018t0001g0076 a0001c0023t0001g0018	6	118	0.0509	9	c.191 others(28): Show c.1913-1458_1913-1457insTCTCTCTCT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	21/37			chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54886935	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01106.hp2 HG01884.hp1 others(18): Show HG00639.hp2 HG01106.hp2 HG01884.hp1 HG02109.hp2 HG02486.hp1 HG02572.hp1 HG02630.hp1 HG02895.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03579.hp1 HG04115.hp1 NA18522.hp2 NA18906.hp1 NA19043.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0018 a0001c0023 a0001c0027 a0001c0035 a0001c0043	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0008t0001 a0001c0009t0001 a0001c0018t0001 a0001c0023t0001 a0001c0027t0001 a0001c0035t0001 a0001c0043t0001	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 others(18): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0068 a0001c0001t0001g0087 a0001c0001t0002g0003 a0001c0002t0001g0039 a0001c0002t0001g0070 a0001c0003t0001g0011 a0001c0005t0001g0005 a0001c0005t0001g0088 a0001c0008t0001g0074 a0001c0008t0001g0103 a0001c0009t0001g0013 a0001c0018t0001g0076 a0001c0023t0001g0018 a0001c0027t0001g0014 a0001c0035t0001g0049 a0001c0043t0001g0051	21	118	0.1780	9	c.205 others(28): Show c.2057-1018_2057-1010dupTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	23/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54911351	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02109.hp2 HG02258.hp2 others(5): Show HG00423.hp2 HG02109.hp2 HG02258.hp2 HG02895.hp2 HG02965.hp1 HG02970.hp2 HG03225.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0001c0023 a0001c0024	a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 a0001c0007t0001 a0001c0023t0001 a0001c0024t0001	a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0012g0063 others(5): Show a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0012g0063 a0001c0002t0001g0070 a0001c0002t0001g0115 a0001c0007t0001g0043 a0001c0023t0001g0018 a0001c0024t0001g0069	8	118	0.0678	9	c.244 others(30): Show c.2449+11497_2449+11505dupTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	27/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D4_chr12_1786963_1923652	1848762	A A	AATTATTA others(2): Show AATTATTATT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(161): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18966.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18980.hp1 NA18985.hp2 NA18989.hp2 NA18995.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19030.hp1 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19087.hp1 NA19088.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0007 a0008 a0014 a0017 a0019	a0001c0001 a0001c0003 a0001c0004 others(24): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0001c0010 a0001c0011 a0001c0014 a0001c0015 a0001c0019 a0001c0031 a0001c0039 a0001c0043 a0001c0048 a0001c0049 a0001c0054 a0001c0056 a0001c0057 a0002c0008 a0002c0012 a0004c0022 a0004c0023 a0005c0018 a0007c0041 a0008c0016 a0014c0032 a0017c0030 a0019c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(47): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0022 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0008 a0001c0004t0001 a0001c0004t0020 a0001c0009t0001 a0001c0009t0007 a0001c0009t0009 a0001c0010t0001 a0001c0011t0002 a0001c0011t0003 a0001c0011t0005 a0001c0014t0002 a0001c0014t0003 a0001c0015t0002 a0001c0015t0003 a0001c0019t0001 a0001c0019t0002 a0001c0031t0001 a0001c0039t0001 a0001c0043t0001 a0001c0048t0001 a0001c0049t0006 a0001c0054t0002 a0001c0056t0001 a0001c0057t0001 a0002c0008t0002 a0002c0008t0003 a0002c0012t0001 a0004c0022t0001 a0004c0023t0001 a0005c0018t0013 a0007c0041t0005 a0008c0016t0002 a0008c0016t0003 a0014c0032t0001 a0017c0030t0001 a0019c0024t0002	a0001c0001t0001g0039 a0001c0001t0001g0078 a0001c0001t0001g0081 others(161): Show a0001c0001t0001g0039 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0140 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0179 a0001c0001t0001g0191 a0001c0001t0001g0202 a0001c0001t0001g0249 a0001c0001t0001g0266 a0001c0001t0001g0312 a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0123 a0001c0001t0002g0127 a0001c0001t0002g0131 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0157 a0001c0001t0002g0182 a0001c0001t0002g0187 a0001c0001t0002g0203 a0001c0001t0002g0224 a0001c0001t0002g0232 a0001c0001t0002g0265 a0001c0001t0002g0269 a0001c0001t0002g0311 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0045 a0001c0001t0003g0055 a0001c0001t0003g0073 a0001c0001t0003g0075 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0089 a0001c0001t0003g0102 a0001c0001t0003g0106 a0001c0001t0003g0115 a0001c0001t0003g0124 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0145 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0004g0016 a0001c0001t0004g0040 a0001c0001t0004g0076 a0001c0001t0005g0056 a0001c0001t0005g0223 a0001c0001t0005g0225 a0001c0001t0006g0153 a0001c0001t0006g0159 a0001c0001t0006g0163 a0001c0001t0010g0149 a0001c0001t0010g0152 a0001c0001t0010g0161 a0001c0001t0011g0306 a0001c0001t0022g0164 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0125 a0001c0003t0001g0185 a0001c0003t0001g0186 a0001c0003t0001g0209 a0001c0003t0002g0060 a0001c0003t0002g0307 a0001c0003t0004g0183 a0001c0003t0004g0184 a0001c0003t0005g0029 a0001c0003t0006g0210 a0001c0003t0008g0303 a0001c0004t0001g0086 a0001c0004t0001g0119 a0001c0004t0001g0176 a0001c0004t0001g0177 a0001c0004t0001g0178 a0001c0004t0001g0229 a0001c0004t0001g0262 a0001c0004t0001g0263 a0001c0004t0020g0141 a0001c0009t0001g0147 a0001c0009t0007g0002 a0001c0009t0007g0005 a0001c0009t0009g0006 a0001c0010t0001g0027 a0001c0010t0001g0028 a0001c0010t0001g0030 a0001c0010t0001g0211 a0001c0011t0002g0293 a0001c0011t0002g0299 a0001c0011t0003g0294 a0001c0011t0003g0295 a0001c0011t0005g0297 a0001c0014t0002g0305 a0001c0014t0002g0309 a0001c0014t0003g0304 a0001c0015t0002g0233 a0001c0015t0003g0268 a0001c0019t0001g0290 a0001c0019t0002g0298 a0001c0031t0001g0267 a0001c0039t0001g0222 a0001c0043t0001g0289 a0001c0048t0001g0069 a0001c0049t0006g0301 a0001c0054t0002g0308 a0001c0056t0001g0291 a0001c0057t0001g0296 a0002c0008t0002g0313 a0002c0008t0003g0021 a0002c0012t0001g0018 a0002c0012t0001g0019 a0002c0012t0001g0022 a0002c0012t0001g0023 a0004c0022t0001g0015 a0004c0023t0001g0014 a0005c0018t0013g0208 a0007c0041t0005g0168 a0008c0016t0002g0117 a0008c0016t0003g0118 a0014c0032t0001g0158 a0017c0030t0001g0226 a0019c0024t0002g0126	164	318	0.5157	9	c.224 others(28): Show c.2247-2082_2247-2074dupAATAATAAT	CACNA2D4	ENSG00000151062.15	transcript	ENST00000382722.10	protein_coding	23/37			chr12	TogoVar
CACNA2D4_chr12_1786963_1923652	1851682	T T	TGTGTGTG others(2): Show TGTGTGTGCG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01256.hp1 HG02129.hp1 others(8): Show HG00741.hp1 HG01256.hp1 HG02129.hp1 HG02155.hp2 HG02293.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 NA19068.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0004c0022 a0004c0023 others(1): Show a0001c0001 a0004c0022 a0004c0023 a0008c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0004c0022t0001 a0004c0023t0001 a0008c0016t0002 a0008c0016t0003	a0001c0001t0001g0039 a0001c0001t0002g0090 a0001c0001t0002g0111 others(8): Show a0001c0001t0001g0039 a0001c0001t0002g0090 a0001c0001t0002g0111 a0001c0001t0002g0182 a0001c0001t0004g0076 a0001c0001t0006g0159 a0001c0001t0006g0163 a0004c0022t0001g0015 a0004c0023t0001g0014 a0008c0016t0002g0117 a0008c0016t0003g0118	11	318	0.0346	9	c.224 others(28): Show c.2246+2268_2246+2269insCGCACACAC	CACNA2D4	ENSG00000151062.15	transcript	ENST00000382722.10	protein_coding	23/37			chr12	TogoVar
CACNB1_chr17_39168453_39202669	39191275	C C	CACTTATT others(2): Show CACTTATTAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(99): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01361.hp2 HG01433.hp2 HG01928.hp2 HG01943.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02109.hp1 HG02129.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02615.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02976.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03492.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp1 NA18522.hp2 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18945.hp2 NA18951.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA19010.hp2 NA19011.hp2 NA19056.hp1 NA19060.hp2 NA19066.hp2 NA19074.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19086.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 a0001c0002t0006 a0001c0002t0011 a0001c0003t0007 a0001c0011t0003	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0013 others(68): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0128 a0001c0001t0001g0151 a0001c0001t0001g0163 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0224 a0001c0001t0001g0231 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0002g0040 a0001c0001t0002g0075 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0003g0024 a0001c0001t0003g0073 a0001c0001t0004g0161 a0001c0001t0005g0004 a0001c0001t0005g0041 a0001c0001t0005g0069 a0001c0001t0005g0070 a0001c0001t0005g0078 a0001c0001t0005g0111 a0001c0001t0005g0185 a0001c0001t0007g0067 a0001c0001t0007g0116 a0001c0001t0007g0249 a0001c0001t0007g0264 a0001c0001t0013g0160 a0001c0001t0013g0162 a0001c0001t0014g0021 a0001c0002t0006g0074 a0001c0002t0006g0086 a0001c0002t0011g0180 a0001c0002t0011g0181 a0001c0002t0011g0248 a0001c0003t0007g0052 a0001c0011t0003g0065	102	396	0.2576	9	c.291 others(24): Show c.291+190_291+198dupATAATAAGT	CACNB1	ENSG00000067191.17	transcript	ENST00000394303.8	protein_coding	3/13			chr17	TogoVar
CACNB2_chr10_18135424_18548557	18137084	C C	CTTCCTTC others(2): Show CTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG02451.hp2 HG02523.hp1 others(4): Show HG01361.hp2 HG02451.hp2 HG02523.hp1 HG02630.hp1 HG02647.hp1 HG02922.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0016 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0016 a0001c0001t0019 a0001c0001t0031 a0001c0002t0002	a0001c0001t0001g0127 a0001c0001t0007g0182 a0001c0001t0016g0006 others(4): Show a0001c0001t0001g0127 a0001c0001t0007g0182 a0001c0001t0016g0006 a0001c0001t0019g0124 a0001c0001t0019g0126 a0001c0001t0031g0056 a0001c0002t0002g0129	7	200	0.0350	9	c.-36 others(20): Show c.-3653_-3652insTTCCTTCCT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding		3339		chr10	TogoVar
CACNB2_chr10_18135424_18548557	18172924	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG01891.hp1 others(21): Show HG00408.hp2 HG00438.hp2 HG01891.hp1 HG02040.hp1 HG02083.hp2 HG02109.hp2 HG02630.hp1 HG02647.hp1 HG02965.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 NA18941.hp1 NA18952.hp1 NA18985.hp1 NA18989.hp1 NA18994.hp2 NA19002.hp2 NA19070.hp2 NA19084.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0016 a0001c0002t0002 a0001c0002t0057 a0001c0002t0058 a0001c0002t0060	a0001c0001t0001g0049 a0001c0001t0004g0149 a0001c0001t0004g0150 others(21): Show a0001c0001t0001g0049 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0161 a0001c0001t0006g0005 a0001c0001t0007g0182 a0001c0001t0007g0188 a0001c0001t0007g0189 a0001c0001t0008g0180 a0001c0001t0009g0160 a0001c0001t0016g0006 a0001c0001t0016g0181 a0001c0002t0002g0004 a0001c0002t0002g0042 a0001c0002t0002g0183 a0001c0002t0002g0184 a0001c0002t0057g0151 a0001c0002t0058g0159 a0001c0002t0060g0155	24	200	0.1200	9	c.213 others(28): Show c.213+21956_213+21964dupTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18307983	C C	CATTTTTT others(2): Show CATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02723.hp2 HG01192.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0043 a0001c0001t0006 a0001c0002t0043	a0001c0001t0006g0028 a0001c0002t0043g0101 a0001c0001t0006g0028 a0001c0002t0043g0101	2	200	0.0100	9	c.214 others(28): Show c.214-93941_214-93940insATTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13			chr10	TogoVar
CACNB2_chr10_18135424_18548557	18356938	A A	ATGTCTTT others(2): Show ATGTCTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03041.hp2 HG02486.hp1 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0011 a0002c0003t0024 a0001c0001t0011 a0002c0003t0024	a0001c0001t0011g0125 a0002c0003t0024g0141 a0001c0001t0011g0125 a0002c0003t0024g0141	2	200	0.0100	9	c.214 others(28): Show c.214-44985_214-44984insGTCTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar

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