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 per page.

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
C4orf17_chr4_99506021_99547303	99518507	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0286 a0002c0009t0001g0286	1	386	0.0026	-19	c.128 others(36): Show c.128-3991_128-3973delAAAAAAAAAAATATATATA	C4orf17	ENSG00000138813.10	transcript	ENST00000326581.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf47_chr4_185421254_185454826	185443921	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp1 HG02257.hp2 others(4): Show HG01109.hp2 HG02145.hp1 HG02257.hp2 HG02809.hp2 HG02818.hp2 HG03130.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0007t0002 a0001c0001t0001 a0001c0001t0002 a0001c0007t0002	a0001c0001t0001g0237 a0001c0001t0002g0006 a0001c0001t0002g0258 others(2): Show a0001c0001t0001g0237 a0001c0001t0002g0006 a0001c0001t0002g0258 a0001c0001t0002g0314 a0001c0007t0002g0256	7	358	0.0196	-19	c.715 others(36): Show c.715-1018_715-1000delTTTTTTTTTTTTTTTTTTT	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
C5orf22_chr5_31527301_31560053	31539955	ATGGGAGG others(12): Show ATGGGAGGATCACTTGAGCC	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	404	0.0025	-19	c.808 others(34): Show c.808-986_808-968delATCACTTGAGCCTGGGAGG	C5orf22	ENSG00000082213.18	transcript	ENST00000325366.14	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
C5orf22_chr5_31527301_31560053	31556398	CCACCCGC others(12): Show CCACCCGCCTCAGCCTCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0165 a0001c0001t0006g0165	1	404	0.0025	-19	c.34 others(30): Show c.3497_*3515delCACCCGCCTCAGCCTCCCA	C5orf22	ENSG00000082213.18	transcript	ENST00000325366.14	protein_coding		1346		chr5	TogoVar
C5orf34_chr5_43481709_43520148	43512760	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(136): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02071.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp2 HG02698.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02970.hp1 HG03017.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03492.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18988.hp2 NA18991.hp1 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19009.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19065.hp2 NA19072.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19086.hp1 NA19091.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0013 others(65): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0115 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0005g0116 a0001c0001t0005g0130 a0001c0001t0005g0138 a0001c0001t0005g0161 a0001c0001t0005g0178 a0001c0003t0001g0003 a0001c0003t0001g0012 a0001c0003t0001g0119 a0001c0003t0001g0129 a0001c0003t0001g0167 a0001c0004t0001g0006 a0001c0004t0001g0117 a0001c0004t0001g0118 a0001c0004t0001g0156 a0001c0004t0001g0157	139	340	0.4088	-19	c.-37 others(36): Show c.-37+2027_-37+2045delAAAAAAAAAAAAAAAAAAA	C5orf34	ENSG00000172244.9	transcript	ENST00000306862.7	protein_coding	1/12			chr5	TogoVar
C7_chr5_40904497_40989643	40968557	TTATATAT others(12): Show TTATATATATTTTATATATA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp2 NA18947.hp1 others(5): Show HG01074.hp2 HG01243.hp2 NA18947.hp1 NA18966.hp1 NA18981.hp1 NA18986.hp1 NA19055.hp2 NA19056.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0022 a0002c0002 others(1): Show a0001c0001 a0001c0022 a0002c0002 a0010c0009	a0001c0001t0002 a0001c0022t0013 a0002c0002t0013 others(1): Show a0001c0001t0002 a0001c0022t0013 a0002c0002t0013 a0010c0009t0013	a0001c0001t0002g0217 a0001c0001t0002g0221 a0001c0001t0002g0230 others(5): Show a0001c0001t0002g0217 a0001c0001t0002g0221 a0001c0001t0002g0230 a0001c0001t0002g0260 a0001c0022t0013g0347 a0002c0002t0013g0195 a0002c0002t0013g0196 a0010c0009t0013g0308	8	380	0.0211	-19	c.188 others(38): Show c.1882+3694_1882+3712delTTTATATATATATATATAT	C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
C7_chr5_40904497_40989643	40968586	ATATATAT others(12): Show ATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18953.hp2 NA18939.hp1 NA18953.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0004c0004t0002 a0001c0001t0002 a0004c0004t0002	a0001c0001t0002g0336 a0004c0004t0002g0306 a0001c0001t0002g0336 a0004c0004t0002g0306	2	380	0.0053	-19	c.188 others(38): Show c.1882+3715_1882+3733delATATATATATATATTTTTT	C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
C7_chr5_40904497_40989643	40968588	ATATATAT others(12): Show ATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0310 a0004c0004t0002g0310	1	380	0.0026	-19	c.188 others(38): Show c.1882+3717_1882+3735delATATATATATATTTTTTTT	C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
C7orf33_chr7_148585766_148620860	148595549	TATAACAT others(12): Show TATAACATATAGCTATATAA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02965.hp2 HG02976.hp1 others(2): Show HG02723.hp1 HG02965.hp2 HG02976.hp1 HG03453.hp1 NA18522.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0005 a0004c0005t0001	a0001c0001t0001g0429 a0001c0001t0002g0387 a0001c0001t0004g0385 others(2): Show a0001c0001t0001g0429 a0001c0001t0002g0387 a0001c0001t0004g0385 a0002c0002t0005g0384 a0004c0005t0001g0386	5	444	0.0113	-19	c.204 others(36): Show c.204+4421_204+4439delATAACATATAGCTATATAA	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding	1/2			chr7	TogoVar
C7orf50_chr7_992006_1143247	1138191	GCGCCCAC others(12): Show GCGCCCACCTGCGCCCACGT	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(148): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00558.hp2 HG00621.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03927.hp1 HG03927.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18940.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18952.hp2 NA18955.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0009	a0001c0001 a0002c0002 a0003c0004 others(2): Show a0001c0001 a0002c0002 a0003c0004 a0006c0006 a0009c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0019 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0002c0002t0003 a0002c0002t0018 a0003c0004t0002 a0006c0006t0005 a0009c0003t0011	a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 others(148): Show a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0242 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0299 a0001c0001t0002g0318 a0001c0001t0003g0205 a0001c0001t0003g0210 a0001c0001t0003g0213 a0001c0001t0003g0232 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0263 a0001c0001t0003g0275 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0293 a0001c0001t0003g0298 a0001c0001t0003g0307 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0005g0204 a0001c0001t0005g0212 a0001c0001t0005g0227 a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0005g0237 a0001c0001t0005g0241 a0001c0001t0005g0247 a0001c0001t0005g0248 a0001c0001t0005g0260 a0001c0001t0005g0273 a0001c0001t0005g0287 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0297 a0001c0001t0005g0305 a0001c0001t0005g0306 a0001c0001t0005g0308 a0001c0001t0005g0314 a0001c0001t0011g0206 a0001c0001t0011g0207 a0001c0001t0011g0226 a0001c0001t0011g0261 a0001c0001t0011g0276 a0001c0001t0011g0277 a0001c0001t0011g0309 a0001c0001t0011g0311 a0001c0001t0012g0291 a0001c0001t0012g0292 a0001c0001t0012g0310 a0001c0001t0012g0312 a0001c0001t0012g0313 a0001c0001t0012g0321 a0001c0001t0015g0225 a0001c0001t0015g0319 a0001c0001t0015g0320 a0001c0001t0019g0324 a0001c0001t0019g0325 a0001c0001t0027g0193 a0001c0001t0028g0201 a0001c0001t0029g0224 a0001c0001t0030g0326 a0002c0002t0003g0281 a0002c0002t0003g0288 a0002c0002t0003g0300 a0002c0002t0003g0301 a0002c0002t0003g0302 a0002c0002t0003g0303 a0002c0002t0003g0304 a0002c0002t0003g0315 a0002c0002t0003g0316 a0002c0002t0003g0317 a0002c0002t0003g0322 a0002c0002t0003g0323 a0002c0002t0018g0202 a0002c0002t0018g0203 a0003c0004t0002g0230 a0006c0006t0005g0296 a0009c0003t0011g0274	151	326	0.4632	-19	c.-89 others(28): Show c.-897_-879delACGTGGGCGCAGGTGGGCG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/5	10807		chr7	TogoVar
C8B_chr1_56924207_56971015	56965512	TTCATGAA others(12): Show TTCATGAATTTGCTCTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02486.hp2 others(10): Show HG02055.hp1 HG02145.hp2 HG02486.hp2 HG02647.hp2 HG02717.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG06807.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0004 a0004c0011 others(1): Show a0001c0001 a0001c0004 a0004c0011 a0006c0009	a0001c0001t0001 a0001c0004t0001 a0004c0011t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0004c0011t0001 a0006c0009t0001	a0001c0001t0001g0018 a0001c0001t0001g0064 a0001c0001t0001g0065 others(8): Show a0001c0001t0001g0018 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0004t0001g0017 a0004c0011t0001g0070 a0006c0009t0001g0067	13	402	0.0323	-19	c.92+ others(32): Show c.92+326_92+344delCAAAAGAGCAAATTCATGA	C8B	ENSG00000021852.14	transcript	ENST00000371237.9	protein_coding	1/11			chr1	TogoVar
C8orf34_chr8_68325955_68824023	68618566	CTGAAACT others(12): Show CTGAAACTCCTGGGCTCAAG	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01109.hp1 HG01243.hp1 others(47): Show HG01071.hp1 HG01109.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01346.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG06807.hp2 NA18522.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0005 others(8): Show a0001c0001 a0001c0002 a0001c0005 a0001c0014 a0002c0003 a0002c0004 a0002c0007 a0002c0013 a0003c0008 a0004c0017 a0006c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0005t0001 a0001c0014t0004 a0002c0003t0001 a0002c0003t0005 a0002c0004t0001 a0002c0004t0002 a0002c0007t0001 a0002c0013t0001 a0003c0008t0001 a0004c0017t0006 a0006c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(47): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0003g0023 a0001c0001t0003g0090 a0001c0001t0004g0074 a0001c0001t0004g0111 a0001c0001t0005g0117 a0001c0001t0008g0089 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0069 a0001c0002t0001g0079 a0001c0002t0001g0084 a0001c0002t0001g0093 a0001c0002t0001g0096 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0002g0014 a0001c0002t0002g0085 a0001c0002t0003g0091 a0001c0002t0003g0092 a0001c0005t0001g0043 a0001c0005t0001g0044 a0001c0014t0004g0008 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0036 a0002c0003t0001g0086 a0002c0003t0005g0073 a0002c0004t0001g0099 a0002c0004t0001g0100 a0002c0004t0001g0104 a0002c0004t0002g0121 a0002c0007t0001g0045 a0002c0013t0001g0095 a0003c0008t0001g0123 a0004c0017t0006g0128 a0006c0009t0001g0107	50	128	0.3906	-19	c.110 others(40): Show c.1106-21789_1106-21771delGAAACTCCTGGGCTCAAGT	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf88_chr8_90953471_90990238	90971736	TAAGATTG others(12): Show TAAGATTGGCTAAGCTAATC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00733.hp2 others(9): Show HG00099.hp2 HG00140.hp2 HG00733.hp2 HG00738.hp1 HG01069.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp2 HG01433.hp1 HG02280.hp1 HG03239.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0046 a0001c0001t0001g0047 others(5): Show a0001c0001t0001g0028 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0187	12	368	0.0326	-19	c.148 others(34): Show c.148-614_148-596delGATTAGCTTAGCCAATCTT	C8orf88	ENSG00000253250.3	transcript	ENST00000517562.3	protein_coding	3/5			chr8	TogoVar
C8orf89_chr8_73236331_73264530	73258998	TTGAGTTA others(12): Show TTGAGTTATTTAAAAGAAAA	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0063 a0002c0002t0002g0063	1	344	0.0029	-19	c.127 others(34): Show c.127+315_127+333delTTTTCTTTTAAATAACTCA	C8orf89	ENSG00000274443.5	transcript	ENST00000624510.4	protein_coding	1/3			chr8	TogoVar
C9orf152_chr9_110194561_110213159	110205258	TACAAAAA others(12): Show TACAAAAAGCCTTTTTCTCC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	466	0.0022	-19	c.193 others(36): Show c.193+2110_193+2128delGGAGAAAAAGGCTTTTTGT	C9orf152	ENSG00000188959.10	transcript	ENST00000400613.5	protein_coding	1/1			chr9	TogoVar
C9orf50_chr9_129607225_129626101	129610216	GGAGGGGA others(12): Show GGAGGGGAAAGGGGGAGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(170): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00558.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18943.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18982.hp1 NA18986.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19089.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0010 a0011 a0012	a0001c0001 a0002c0002 a0002c0005 others(11): Show a0001c0001 a0002c0002 a0002c0005 a0002c0012 a0003c0003 a0003c0006 a0003c0013 a0003c0022 a0005c0007 a0006c0008 a0010c0016 a0010c0017 a0011c0014 a0012c0018	a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 others(15): Show a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 a0002c0005t0002 a0002c0012t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0005 a0003c0006t0001 a0003c0006t0002 a0003c0013t0002 a0003c0022t0002 a0005c0007t0004 a0006c0008t0001 a0010c0016t0001 a0010c0017t0001 a0011c0014t0004 a0012c0018t0001	a0001c0001t0001g0018 a0001c0001t0001g0058 a0001c0001t0001g0070 others(54): Show a0001c0001t0001g0018 a0001c0001t0001g0058 a0001c0001t0001g0070 a0001c0001t0001g0077 a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0024 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0067 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0081 a0002c0002t0001g0089 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0005t0001g0105 a0002c0005t0002g0013 a0002c0005t0002g0039 a0002c0012t0001g0087 a0002c0012t0001g0092 a0003c0003t0001g0025 a0003c0003t0002g0002 a0003c0003t0002g0015 a0003c0003t0002g0040 a0003c0003t0002g0104 a0003c0003t0002g0107 a0003c0003t0002g0109 a0003c0003t0002g0110 a0003c0003t0002g0112 a0003c0003t0005g0016 a0003c0003t0005g0028 a0003c0006t0001g0022 a0003c0006t0001g0023 a0003c0006t0001g0093 a0003c0006t0002g0064 a0003c0006t0002g0080 a0003c0006t0002g0084 a0003c0013t0002g0041 a0003c0022t0002g0108 a0005c0007t0004g0046 a0005c0007t0004g0047 a0006c0008t0001g0029 a0006c0008t0001g0051 a0006c0008t0001g0052 a0010c0016t0001g0088 a0010c0017t0001g0082 a0011c0014t0004g0044 a0011c0014t0004g0045 a0012c0018t0001g0091	173	410	0.4220	-19	c.21 others(30): Show c.2112_*2130delTCCCTCCCCCTTTCCCCTC	C9orf50	ENSG00000179058.8	transcript	ENST00000372478.5	protein_coding		2008		chr9	TogoVar
CA10_chr17_51625320_52163714	51692409	ATCTATCT others(12): Show ATCTATCTATCTATCTATTT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	156	0.0064	-19	c.466 others(38): Show c.466-38692_466-38674delAAATAGATAGATAGATAGA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	4/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51692414	TCTATCTA others(12): Show TCTATCTATCTATTTTACCA	T T	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	156	0.0064	-19	c.466 others(38): Show c.466-38697_466-38679delTGGTAAAATAGATAGATAG	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	4/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51874955	TTTTTCTT others(12): Show TTTTTCTTTTTTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01884.hp1 HG01891.hp1 others(15): Show HG01516.hp1 HG01884.hp1 HG01891.hp1 HG02056.hp2 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02723.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp2 HG03471.hp2 HG03516.hp1 HG03579.hp2 NA18906.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0051 a0001c0001t0001g0069 a0001c0001t0001g0082 others(15): Show a0001c0001t0001g0051 a0001c0001t0001g0069 a0001c0001t0001g0082 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0002g0012 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0090 a0001c0001t0003g0101 a0001c0001t0003g0114 a0001c0001t0003g0138 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0145 a0001c0001t0005g0001 a0001c0001t0006g0002 a0001c0002t0001g0022	18	156	0.1154	-19	c.279 others(38): Show c.279+56016_279+56034delGAAAAGAAAAAAAAGAAAA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51884672	ATTAGCAC others(12): Show ATTAGCACAAACTGGGAGGC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp1 HG02572.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0051 a0001c0001t0004g0100 a0001c0001t0001g0051 a0001c0001t0004g0100	2	156	0.0128	-19	c.279 others(38): Show c.279+46299_279+46317delGCCTCCCAGTTTGTGCTAA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA5A_chr16_87883013_87941529	87899919	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0004 a0003c0006t0001g0004	1	400	0.0025	-19	c.618 others(36): Show c.618+1974_618+1992delTTTTTTTTTTTTTTTTTTT	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding	5/6			chr16	TogoVar
CA6_chr1_8940868_8980092	8973765	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01074.hp2 HG01168.hp2 others(1): Show HG00423.hp1 HG01074.hp2 HG01168.hp2 HG02602.hp2	a0003 a0007 a0003 a0007	a0003c0003 a0007c0007 a0003c0003 a0007c0007	a0003c0003t0001 a0003c0003t0002 a0007c0007t0001 a0003c0003t0001 a0003c0003t0002 a0007c0007t0001	a0003c0003t0001g0074 a0003c0003t0001g0093 a0003c0003t0002g0083 others(1): Show a0003c0003t0001g0074 a0003c0003t0001g0093 a0003c0003t0002g0083 a0007c0007t0001g0163	4	452	0.0089	-19	c.845 others(34): Show c.845-854_845-836delCTTTCTTTCTTTCTTTCTT	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CA6_chr1_8940868_8980092	8978636	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 NA19075.hp2 HG02135.hp1 NA19075.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0415 a0002c0001t0001g0185 a0001c0002t0001g0415 a0002c0001t0001g0185	2	452	0.0044	-19	c.39 others(30): Show c.3933_*3951delAAAAAAAAAAAAAAAAAAA	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding		3545		chr1	TogoVar
CAB39L_chr13_49303650_49449064	49329543	AAATATAT others(12): Show AAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0034 a0001c0002t0003g0034	1	324	0.0031	-19	c.834 others(36): Show c.834+2385_834+2403delATATATATATATATATATT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49329545	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02258.hp2 HG02280.hp2 others(14): Show HG00733.hp1 HG02258.hp2 HG02280.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02735.hp1 HG02970.hp1 HG03098.hp1 HG03130.hp1 HG03490.hp1 HG03492.hp1 HG03834.hp1 NA18906.hp2 NA18940.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0064 a0001c0001t0001g0095 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0064 a0001c0001t0001g0095 a0001c0001t0001g0190 a0001c0001t0001g0284 a0001c0001t0001g0297 a0001c0001t0003g0009 a0001c0001t0003g0019 a0001c0001t0003g0030 a0001c0001t0004g0299 a0001c0002t0001g0053 a0001c0002t0001g0060 a0001c0002t0001g0137 a0001c0002t0001g0310 a0001c0002t0001g0313 a0001c0002t0003g0017	17	324	0.0525	-19	c.834 others(36): Show c.834+2383_834+2401delATATATATATATATATATA	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CAB39_chr2_230707842_230826075	230813978	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0133 a0001c0001t0044g0133	1	342	0.0029	-19	c.628 others(32): Show c.628-55_628-37delTTTTTTTTTTTTTTTTTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CABLES1_chr18_23130485_23265470	23191906	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0142 a0002c0002t0001g0142	1	278	0.0036	-19	c.918 others(36): Show c.918-2525_918-2507delAAAAAAAAAAAAAAAAAAA	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABP1_chr12_120635626_120672324	120654682	AGGCAGAG others(12): Show AGGCAGAGTGCAGGCCGAAG	A A	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	418	0.0024	-19	c.655 others(36): Show c.655-5194_655-5176delGCAGAGTGCAGGCCGAAGG	CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
CABP1_chr12_120635626_120672324	120666695	GGTCAGAT others(12): Show GGTCAGATCCGCAGATTAGA	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	418	0.0024	-19	c.108 others(36): Show c.1088-179_1088-161delGTCAGATCCGCAGATTAGA	CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding	5/5			chr12	TogoVar
CACFD1_chr9_133454978_133475848	133469936	TGGGAGTG others(12): Show TGGGAGTGGCATCTGAGGCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00438.hp1 others(77): Show HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00642.hp2 HG00735.hp1 HG01123.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02155.hp1 HG02559.hp1 HG02698.hp2 HG02738.hp2 HG02896.hp2 HG02897.hp1 HG03195.hp2 HG03239.hp1 HG03654.hp2 HG03669.hp1 HG03834.hp1 NA18747.hp2 NA18940.hp2 NA18943.hp2 NA18951.hp1 NA18954.hp2 NA18955.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18975.hp2 NA18978.hp1 NA18980.hp2 NA18983.hp2 NA18986.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19054.hp1 NA19057.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19085.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0014 others(1): Show a0001c0001 a0001c0002 a0001c0014 a0002c0008	a0001c0001t0001 a0001c0001t0011 a0001c0001t0047 others(8): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0056 a0001c0001t0063 a0001c0002t0057 a0001c0014t0001 a0002c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0034 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0011g0001 a0001c0001t0011g0102 a0001c0001t0047g0073 a0001c0001t0048g0072 a0001c0001t0049g0077 a0001c0001t0050g0001 a0001c0001t0056g0034 a0001c0001t0063g0001 a0001c0002t0057g0002 a0001c0014t0001g0087 a0002c0008t0001g0001	80	420	0.1905	-19	c.13 others(30): Show c.1303_*1321delGGGAGTGGCATCTGAGGCC	CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding	5/5	1303	INFO_REALIGN_3_PRIME	chr9	TogoVar
CACFD1_chr9_133454978_133475848	133469956	GGGAGTGG others(12): Show GGGAGTGGCATCTGAGGCCA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01346.hp1 HG01928.hp2 HG02004.hp2 others(14): Show HG01346.hp1 HG01928.hp2 HG02004.hp2 HG02015.hp2 HG02145.hp2 HG02622.hp1 HG02717.hp1 HG02809.hp2 NA18948.hp1 NA18959.hp1 NA18964.hp1 NA18978.hp2 NA18979.hp2 NA18998.hp2 NA19080.hp2 NA19082.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0021 a0001c0001t0066 a0001c0001t0008 a0001c0001t0021 a0001c0001t0066	a0001c0001t0008g0003 a0001c0001t0008g0088 a0001c0001t0008g0090 others(3): Show a0001c0001t0008g0003 a0001c0001t0008g0088 a0001c0001t0008g0090 a0001c0001t0008g0113 a0001c0001t0021g0003 a0001c0001t0066g0003	17	420	0.0405	-19	c.13 others(30): Show c.1313_*1331delTCTGAGGCCAGGAGTGGCA	CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding	5/5	1313	INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1A_chr19_13201442_13511479	13208184	GGAGGAGG others(12): Show GGAGGAGGAGGAGGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA20300.hp1 HG03130.hp1 NA20300.hp1	a0016 a0016	a0016c0028 a0016c0028	a0016c0028t0007 a0016c0028t0007	a0016c0028t0007g0073 a0016c0028t0007g0084 a0016c0028t0007g0073 a0016c0028t0007g0084	2	218	0.0092	-19	c.678 others(36): Show c.6781-150_6781-132delTCTCCTCCTCCTCCTCCTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	46/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13315019	ACTTGAAA others(12): Show ACTTGAAAGAATTACTTATC	A A	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0032 a0032	a0032c0045 a0032c0045	a0032c0045t0005 a0032c0045t0005	a0032c0045t0005g0191 a0032c0045t0005g0191	1	218	0.0046	-19	c.155 others(38): Show c.1555+2074_1555+2092delGATAAGTAATTCTTTCAAG	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	11/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346647	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0011 a0002c0002t0002g0011	1	218	0.0046	-19	c.979 others(38): Show c.979-10757_979-10739delTATATATATATATATATAT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346648	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02622.hp2 HG00609.hp2 HG02622.hp2	a0001 a0001	a0001c0026 a0001c0038 a0001c0026 a0001c0038	a0001c0026t0001 a0001c0038t0007 a0001c0026t0001 a0001c0038t0007	a0001c0026t0001g0144 a0001c0038t0007g0205 a0001c0026t0001g0144 a0001c0038t0007g0205	2	218	0.0092	-19	c.979 others(38): Show c.979-10758_979-10740delATATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346650	ATATATAT others(12): Show ATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA19079.hp1 NA18980.hp1 NA19079.hp1	a0001 a0007 a0001 a0007	a0001c0006 a0007c0100 a0001c0006 a0007c0100	a0001c0006t0001 a0007c0100t0017 a0001c0006t0001 a0007c0100t0017	a0001c0006t0001g0032 a0007c0100t0017g0039 a0001c0006t0001g0032 a0007c0100t0017g0039	2	218	0.0092	-19	c.979 others(38): Show c.979-10760_979-10742delAAATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346652	ATATATAT others(12): Show ATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0015	a0001c0004t0015g0140 a0001c0004t0015g0140	1	218	0.0046	-19	c.979 others(38): Show c.979-10762_979-10744delAAAAATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497488	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0104 a0002c0104	a0002c0104t0040 a0002c0104t0040	a0002c0104t0040g0156 a0002c0104t0040g0156	1	218	0.0046	-19	c.293 others(36): Show c.293+8425_293+8443delTTTTTTTTTTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497516	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0045 a0045	a0045c0036 a0045c0036	a0045c0036t0028 a0045c0036t0028	a0045c0036t0028g0173 a0045c0036t0028g0173	1	218	0.0046	-19	c.293 others(36): Show c.293+8397_293+8415delATATATATATATATTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497518	AAAAATAT others(12): Show AAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0038 a0038	a0038c0044 a0038c0044	a0038c0044t0005 a0038c0044t0005	a0038c0044t0005g0175 a0038c0044t0005g0175	1	218	0.0046	-19	c.293 others(36): Show c.293+8395_293+8413delATATATATATATATATTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497520	AAATATAT others(12): Show AAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02451.hp2 NA18944.hp2 HG02273.hp2 HG02451.hp2 NA18944.hp2	a0012 a0013 a0018 a0012 a0013 a0018	a0012c0023 a0013c0027 a0018c0017 a0012c0023 a0013c0027 a0018c0017	a0012c0023t0003 a0013c0027t0001 a0018c0017t0014 a0012c0023t0003 a0013c0027t0001 a0018c0017t0014	a0012c0023t0003g0180 a0013c0027t0001g0179 a0018c0017t0014g0216 a0012c0023t0003g0180 a0013c0027t0001g0179 a0018c0017t0014g0216	3	218	0.0138	-19	c.293 others(36): Show c.293+8393_293+8411delATATATATATATATATATT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497522	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03669.hp1 NA18747.hp1 others(1): Show HG02280.hp2 HG03669.hp1 NA18747.hp1 NA18968.hp2	a0001 a0007 a0009 others(1): Show a0001 a0007 a0009 a0020	a0001c0006 a0007c0075 a0009c0014 others(1): Show a0001c0006 a0007c0075 a0009c0014 a0020c0078	a0001c0006t0009 a0007c0075t0003 a0009c0014t0002 others(1): Show a0001c0006t0009 a0007c0075t0003 a0009c0014t0002 a0020c0078t0019	a0001c0006t0009g0189 a0007c0075t0003g0190 a0009c0014t0002g0195 others(1): Show a0001c0006t0009g0189 a0007c0075t0003g0190 a0009c0014t0002g0195 a0020c0078t0019g0151	4	218	0.0184	-19	c.293 others(36): Show c.293+8391_293+8409delATATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13502672	ATTTGGGT others(12): Show ATTTGGGTTTCCTCACTTAG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0085 a0002c0085	a0002c0085t0005 a0002c0085t0005	a0002c0085t0005g0085 a0002c0085t0005g0085	1	218	0.0046	-19	c.293 others(36): Show c.293+3241_293+3259delCTAAGTGAGGAAACCCAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1C_chr12_2047987_2702950	2091582	GGACCCTT others(12): Show GGACCCTTGTGATGACCTCA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01891.hp2 HG02055.hp2 others(13): Show HG01496.hp2 HG01891.hp2 HG02055.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02723.hp2 HG03098.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(9): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0011 a0001c0012 a0001c0015 a0001c0017 a0001c0021 a0001c0025 a0001c0029 a0003c0027	a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 others(13): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 a0001c0001t0028 a0001c0001t0043 a0001c0003t0037 a0001c0004t0023 a0001c0005t0026 a0001c0011t0014 a0001c0012t0007 a0001c0015t0034 a0001c0017t0006 a0001c0021t0027 a0001c0025t0007 a0001c0029t0019 a0003c0027t0011	a0001c0001t0002g0027 a0001c0001t0004g0008 a0001c0001t0015g0030 others(13): Show a0001c0001t0002g0027 a0001c0001t0004g0008 a0001c0001t0015g0030 a0001c0001t0028g0081 a0001c0001t0043g0032 a0001c0003t0037g0003 a0001c0004t0023g0028 a0001c0005t0026g0079 a0001c0011t0014g0007 a0001c0012t0007g0076 a0001c0015t0034g0075 a0001c0017t0006g0006 a0001c0021t0027g0087 a0001c0025t0007g0012 a0001c0029t0019g0060 a0003c0027t0011g0013	16	104	0.1539	-19	c.50- others(36): Show c.50-23636_50-23618delTTGTGATGACCTCAGACCC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1H_chr16_1148106_1226768	1189397	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18522.hp2 HG02451.hp1 NA18522.hp2	a0008 a0026 a0008 a0026	a0008c0023 a0026c0128 a0008c0023 a0026c0128	a0008c0023t0003 a0026c0128t0040 a0008c0023t0003 a0026c0128t0040	a0008c0023t0003g0045 a0026c0128t0040g0014 a0008c0023t0003g0045 a0026c0128t0040g0014	2	338	0.0059	-19	c.300 others(36): Show c.300-5556_300-5538delTTTTTTTTTTTTTTTTTTT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39591042	GAGGTCTC others(12): Show GAGGTCTCACTATGTTGCCC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00408.hp1 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0213 a0001c0002t0003g0183 a0001c0002t0002g0213 a0001c0002t0003g0183	2	236	0.0085	-19	c.237 others(36): Show c.237-7105_237-7087delTCTCACTATGTTGCCCAGG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39596253	GGGGCAGG others(12): Show GGGGCAGGGCGGAGGGAGAT	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	236	0.0042	-19	c.237 others(36): Show c.237-1875_237-1857delCAGGGCGGAGGGAGATGGG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA2D1_chr7_81941444_82448777	82274200	CGACTGTA others(12): Show CGACTGTATCTTCCTCTCCA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01433.hp1 HG01884.hp2 others(7): Show HG00639.hp2 HG01433.hp1 HG01884.hp2 HG02818.hp1 HG02922.hp1 HG02970.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 a0001c0003t0001	a0001c0001t0001g0012 a0001c0001t0001g0077 a0001c0001t0002g0103 others(7): Show a0001c0001t0001g0012 a0001c0001t0001g0077 a0001c0001t0002g0103 a0001c0001t0003g0062 a0001c0001t0003g0086 a0001c0001t0007g0078 a0001c0001t0007g0085 a0001c0001t0012g0102 a0001c0003t0001g0025 a0001c0003t0001g0061	10	144	0.0694	-19	c.294 others(38): Show c.294+60916_294+60934delTGGAGAGGAAGATACAGTC	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNB2_chr10_18135424_18548557	18139095	GCCGGCTG others(12): Show GCCGGCTGTGGTGGCGTGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	200	0.0050	-19	c.-16 others(30): Show c.-1641_-1623delCCGGCTGTGGTGGCGTGCA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding		1328		chr10	TogoVar
CACNB2_chr10_18135424_18548557	18152721	AAAAAAAA others(12): Show AAAAAAAAAAAACAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03139.hp2 HG03209.hp2 others(1): Show HG02647.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0016 a0001c0002t0002 a0001c0001t0007 a0001c0001t0016 a0001c0002t0002	a0001c0001t0007g0182 a0001c0001t0016g0181 a0001c0002t0002g0183 others(1): Show a0001c0001t0007g0182 a0001c0001t0016g0181 a0001c0002t0002g0183 a0001c0002t0002g0184	4	200	0.0200	-19	c.213 others(36): Show c.213+1751_213+1769delAAAAAAACAAAAAACAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar

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