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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Select column to sort.

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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
CHAF1B_chr21_36380392_36424015	36401574	T T	TTTTATAT others(39): Show TTTTATATTATACATAATATATATTTTTATATTATACATAATATATA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0071 a0002c0002t0010g0071	1	346	0.0029	46	c.664 others(63): Show c.664-1181_664-1180insATATTATACATAATATATATTTTTATAT TATACATAATATATATTT	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHCHD6_chr3_126699240_126965420	126863037	C C	CTCCTCCA others(39): Show CTCCTCCATCACCACCTCCTCCTCCTCCATCACCTCCTCCTCCTCTA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0056 a0002c0002t0001g0056	1	216	0.0046	46	c.495 others(65): Show c.495+10307_495+10308insTCCTCCATCACCACCTCCTCCTCCTC CATCACCTCCTCCTCCTCTA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7			chr3	TogoVar
CHID1_chr11_862859_915810	871531	A A	AGAACACT others(39): Show AGAACACTATGGGCCACAGCCACCAGCAGCACCAACAGATGGTTCTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(362): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0008 a0002c0002 others(4): Show a0001c0001 a0001c0008 a0002c0002 a0002c0006 a0003c0003 a0004c0004 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0008t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0008 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0014 a0002c0002t0015 a0002c0002t0018 a0002c0002t0020 a0002c0002t0024 a0002c0002t0027 a0002c0006t0006 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001 a0005c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(308): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0228 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0282 a0001c0001t0001g0296 a0001c0001t0001g0314 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0002g0019 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0043 a0001c0001t0002g0059 a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0163 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0177 a0001c0001t0002g0190 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0003g0017 a0001c0001t0003g0075 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0007g0120 a0001c0001t0007g0215 a0001c0001t0009g0255 a0001c0001t0016g0080 a0001c0001t0017g0186 a0001c0001t0019g0048 a0001c0001t0021g0103 a0001c0001t0022g0176 a0001c0001t0023g0151 a0001c0001t0028g0184 a0001c0001t0029g0187 a0001c0001t0030g0330 a0001c0001t0031g0329 a0001c0008t0001g0138 a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0013 a0002c0002t0001g0015 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0050 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0076 a0002c0002t0001g0078 a0002c0002t0001g0081 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0191 a0002c0002t0001g0193 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0201 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0256 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0319 a0002c0002t0001g0320 a0002c0002t0001g0321 a0002c0002t0001g0324 a0002c0002t0001g0325 a0002c0002t0001g0328 a0002c0002t0002g0155 a0002c0002t0005g0261 a0002c0002t0005g0299 a0002c0002t0008g0194 a0002c0002t0010g0236 a0002c0002t0011g0302 a0002c0002t0012g0047 a0002c0002t0014g0068 a0002c0002t0015g0082 a0002c0002t0018g0049 a0002c0002t0020g0085 a0002c0002t0024g0270 a0002c0002t0027g0257 a0002c0006t0006g0124 a0003c0003t0001g0152 a0003c0003t0001g0153 a0003c0003t0001g0249 a0003c0003t0002g0036 a0003c0003t0002g0096 a0003c0003t0002g0154 a0003c0003t0002g0158 a0003c0003t0002g0159 a0003c0003t0002g0160 a0003c0003t0002g0161 a0004c0004t0001g0038 a0004c0004t0001g0318 a0005c0009t0001g0087	365	386	0.9456	46	c.960 others(63): Show c.960-1033_960-1032insCAGAACCATCTGTTGGTGCTGCTGGTGG CTGTGGCCCATAGTGTTC	CHID1	ENSG00000177830.18	transcript	ENST00000323578.13	protein_coding	10/12			chr11	TogoVar
CHID1_chr11_862859_915810	871531	A A	AGAACACT others(39): Show AGAACACTATGGGCCACAGCTACCAGCAGCACCAACAGATGGTTCTG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0006 a0002c0007t0006	a0002c0007t0006g0123 a0002c0007t0006g0123	1	386	0.0026	46	c.960 others(63): Show c.960-1033_960-1032insCAGAACCATCTGTTGGTGCTGCTGGTAG CTGTGGCCCATAGTGTTC	CHID1	ENSG00000177830.18	transcript	ENST00000323578.13	protein_coding	10/12			chr11	TogoVar
CHID1_chr11_862859_915810	871531	A A	AGAACACT others(39): Show AGAACACTATGGGCCATAGCCACCAGCAGCACCAACAGATGGTTCTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01884.hp1 HG02004.hp2 others(14): Show HG00741.hp1 HG01884.hp1 HG02004.hp2 HG02572.hp2 HG02647.hp1 HG02683.hp2 HG02895.hp2 HG02965.hp2 HG02970.hp1 HG03239.hp1 HG03471.hp1 HG03516.hp2 HG04199.hp1 HG04228.hp2 NA18522.hp1 NA20752.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0013 a0002c0002t0001 a0001c0001t0001 a0001c0001t0013 a0002c0002t0001	a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0039 others(12): Show a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0074 a0001c0001t0001g0126 a0001c0001t0013g0041 a0002c0002t0001g0079	17	386	0.0440	46	c.960 others(63): Show c.960-1033_960-1032insCAGAACCATCTGTTGGTGCTGCTGGTGG CTATGGCCCATAGTGTTC	CHID1	ENSG00000177830.18	transcript	ENST00000323578.13	protein_coding	10/12			chr11	TogoVar
CHODL_chr21_18239833_18272370	18248673	C C	CATATATG others(39): Show CATATATGTATATATTATATACATATATATGTATATATTATATACAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 homoSapiens_chm13v2.hp1 HG01106.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0265 a0001c0001t0004g0266	2	402	0.0050	46	c.79+ others(61): Show c.79+3407_79+3408insTTATATACATATATATGTATATATTATATA CATATATATGTATATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251423	A A	AATATATA others(39): Show AATATATAAAATAAATGTGTATTTTAATATATAAAATACACATTTAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03579.hp1 NA19030.hp2 HG03225.hp1 HG03579.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0017 a0001c0001t0005 a0001c0001t0009 a0001c0001t0017	a0001c0001t0005g0296 a0001c0001t0009g0286 a0001c0001t0017g0287 a0001c0001t0005g0296 a0001c0001t0009g0286 a0001c0001t0017g0287	3	402	0.0075	46	c.80- others(61): Show c.80-5086_80-5085insATATATAAAATAAATGTGTATTTTAATATA TAAAATACACATTTAT	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5			chr21	TogoVar
CHRM2_chr7_136863652_137025213	136867786	T T	TATATATA others(39): Show TATATATATATATATATATATTCTGGATATATATATATATATTCTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01123.hp1 others(12): Show HG01069.hp1 HG01071.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01257.hp1 HG01433.hp2 HG01516.hp1 HG02148.hp1 HG02451.hp1 HG02559.hp1 HG04115.hp1 NA19043.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010	a0001c0001t0002g0092 a0001c0001t0004g0075 a0001c0001t0004g0078 others(12): Show a0001c0001t0002g0092 a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0007g0088 a0001c0001t0008g0072 a0001c0001t0008g0073 a0001c0001t0008g0074 a0001c0001t0008g0083 a0001c0001t0008g0084 a0001c0001t0008g0086 a0001c0001t0008g0089 a0001c0001t0008g0091 a0001c0001t0010g0065 a0001c0001t0010g0066	15	320	0.0469	46	c.-14 others(57): Show c.-1489_-1488insATATATATATATATATATATTCTGGATATATATA TATATATTCTGG	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding		865		chr7	TogoVar
CHRM2_chr7_136863652_137025213	136867926	T T	TATATATA others(39): Show TATATATATCCTGGACATATATATATATATATATATATATATTCTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0028 a0004c0009t0028	a0004c0009t0028g0303 a0004c0009t0028g0303	1	320	0.0031	46	c.-13 others(57): Show c.-1349_-1348insATATATATCCTGGACATATATATATATATATATA TATATATTCTGG	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding		725		chr7	TogoVar
CHRM3_chr1_239381568_239920450	239580704	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0066	1	116	0.0086	46	c.-31 others(67): Show c.-313+34956_-313+34957insTATATATATATATATATATATATA TATATATATATATATACATACA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRNB4_chr15_78619111_78646210	78632213	C C	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0004 a0003c0016t0004	a0003c0016t0004g0123 a0003c0016t0004g0123	1	416	0.0024	46	c.205 others(61): Show c.205-882_205-881insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAA	CHRNB4	ENSG00000117971.12	transcript	ENST00000261751.8	protein_coding	2/5			chr15	TogoVar
CHST5_chr16_75523530_75541108	75526200	A A	AGTGTGCA others(39): Show AGTGTGCATGTGAGTGTGCATGTGAGTGTGCATGTGAGTGCATGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0103 a0002c0002t0003g0103	1	394	0.0025	46	c.29 others(57): Show c.2948_*2949insACACATGCACTCACATGCACACTCACATGCACAC TCACATGCACAC	CHST5	ENSG00000135702.15	transcript	ENST00000336257.8	protein_coding		2329		chr16	TogoVar
CHST8_chr19_33616953_33778506	33757522	G G	GAAAGAAA others(39): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0088 a0005c0004t0001g0088	1	254	0.0039	46	c.131 others(65): Show c.131-13890_131-13889insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33765053	C C	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	254	0.0039	46	c.131 others(63): Show c.131-6340_131-6339insATATATATATATATATATATATATATAT ATATATATATATATATAT	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CIB4_chr2_26576205_26646366	26589272	C C	CCTCCTTC others(39): Show CCTCCTTCTTTCCTCCTCCTCCTCCTCTCCTTCTCCTTCTCCTCCTT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0129 a0002c0002t0002g0129	1	344	0.0029	46	c.329 others(63): Show c.329-5420_329-5375dupAAGGAGGAGAAGGAGAAGGAGAGGAGGA GGAGGAGGAAAGAAGGAG	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	4/6			chr2	TogoVar
CIBAR1_chr8_93695550_93736527	93697754	A A	ATATATAT others(39): Show ATATATATACATATATATACATGTATATATATACATATATATACATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 NA18612.hp2 HG01257.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0065 a0001c0001t0002g0006 a0001c0001t0002g0065	2	374	0.0054	46	c.-28 others(57): Show c.-2894_-2893insTATATATACATATATATACATGTATATATATACA TATATATACATG	CIBAR1	ENSG00000188343.14	transcript	ENST00000518322.6	protein_coding		2795		chr8	TogoVar
CIBAR1_chr8_93695550_93736527	93697754	A A	ATATATAT others(39): Show ATATATATATACATATATACATGTATATATATACATATATATACATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0053 a0001c0001t0005g0053	1	374	0.0027	46	c.-28 others(57): Show c.-2894_-2893insTATATATATACATATATACATGTATATATATACA TATATATACATG	CIBAR1	ENSG00000188343.14	transcript	ENST00000518322.6	protein_coding		2795		chr8	TogoVar
CIP2A_chr3_108544864_108594438	108569168	C C	CTATATAT others(39): Show CTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03490.hp1 NA19091.hp1 HG03490.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0339 a0002c0002t0001g0040 a0001c0001t0004g0339 a0002c0002t0001g0040	2	372	0.0054	46	c.111 others(63): Show c.1113+220_1113+221insTATATATATATATATATATATATATATA TATATATATATATATATA	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108569181	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA19011.hp1 NA18967.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0288 a0001c0001t0002g0249 a0001c0001t0002g0288	2	372	0.0054	46	c.111 others(63): Show c.1113+207_1113+208insGTGTGTGTGTGTGTATATATATATATAT ATATATATATATATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108569181	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02027.hp2 HG02040.hp2 others(13): Show HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02273.hp1 HG02451.hp1 HG02735.hp2 NA18951.hp2 NA18972.hp2 NA18974.hp1 NA18977.hp1 NA18987.hp2 NA18998.hp2 NA19066.hp1 NA19075.hp1 NA19077.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0007 a0001c0001t0002g0164 a0001c0001t0002g0174 others(12): Show a0001c0001t0002g0007 a0001c0001t0002g0164 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0191 a0001c0001t0002g0201 a0001c0001t0002g0224 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0006g0016 a0001c0001t0006g0268 a0001c0001t0006g0269 a0001c0001t0006g0270	16	372	0.0430	46	c.111 others(63): Show c.1113+207_1113+208insGTGTGTGTGTGTATATATATATATATAT ATATATATATATATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108569181	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02602.hp1 HG02683.hp1 HG02257.hp2 HG02602.hp1 HG02683.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0005 a0001c0001t0001 a0004c0004t0005	a0001c0001t0001g0212 a0001c0001t0001g0216 a0004c0004t0005g0153 a0001c0001t0001g0212 a0001c0001t0001g0216 a0004c0004t0005g0153	3	372	0.0081	46	c.111 others(63): Show c.1113+207_1113+208insGTATATATATATATATATATATATATAT ATATATATATATATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20			chr3	TogoVar
CIRBP_chr19_1264332_1279810	1269785	T T	TTGGGCTG others(39): Show TTGGGCTGGGGAGAGGCCCGGGCTGGACCGAGGGCGCTTGTCCGCCG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0017 a0001c0002t0009g0017	1	280	0.0036	46	c.-7+ others(59): Show c.-7+379_-7+380insCTGGGGAGAGGCCCGGGCTGGACCGAGGGCGC TTGTCCGCCGTGGG	CIRBP	ENSG00000099622.14	transcript	ENST00000587896.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CLDN11_chr3_170413868_170439691	170415139	G G	GTATATAT others(39): Show GTATATATATATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0028 a0001c0001t0011g0028	1	408	0.0025	46	c.-39 others(57): Show c.-3928_-3927insTATATATATATATATATATATATATATATATATA TATATATATATA	CLDN11	ENSG00000013297.12	transcript	ENST00000064724.8	protein_coding		3728		chr3	TogoVar
CLEC2B_chr12_9847369_9874354	9853071	A A	AAGAAAGA others(39): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG02055.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0067 a0001c0001t0063 a0001c0001t0067	a0001c0001t0063g0108 a0001c0001t0067g0112 a0001c0001t0063g0108 a0001c0001t0067g0112	2	454	0.0044	46	c.22 others(55): Show c.228_*229insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	CLEC2B	ENSG00000110852.5	transcript	ENST00000228438.3	protein_coding	5/5	228		chr12	TogoVar
CLEC2B_chr12_9847369_9874354	9853083	A A	AAGAAAGA others(39): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp2 HG01070.hp1 HG01071.hp2 others(20): Show HG00735.hp2 HG01070.hp1 HG01071.hp2 HG01361.hp2 HG02257.hp1 HG02300.hp2 HG03491.hp1 HG03492.hp1 HG03942.hp2 HG04204.hp1 NA18612.hp1 NA18955.hp1 NA18956.hp2 NA18973.hp1 NA18974.hp1 NA18986.hp2 NA18995.hp2 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19063.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0011 a0001c0001t0005g0015 a0001c0001t0005g0043 others(6): Show a0001c0001t0005g0011 a0001c0001t0005g0015 a0001c0001t0005g0043 a0001c0001t0005g0048 a0001c0001t0005g0061 a0001c0001t0005g0077 a0001c0001t0005g0082 a0001c0001t0005g0145 a0001c0001t0005g0152	23	454	0.0507	46	c.21 others(55): Show c.216_*217insCTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	CLEC2B	ENSG00000110852.5	transcript	ENST00000228438.3	protein_coding	5/5	216		chr12	TogoVar
CLIC4_chr1_24740447_24849321	24820067	G G	GTATATAT others(39): Show GTATATATATATATATATATATATATATATATGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0110 a0001c0001t0015g0110	1	344	0.0029	46	c.308 others(63): Show c.308+5859_308+5860insATATATATATATATATATATGTATATAT ATATATATATATATATAT	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLIC4_chr1_24740447_24849321	24820067	G G	GTGTGTAT others(39): Show GTGTGTATACATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	344	0.0029	46	c.308 others(63): Show c.308+5849_308+5850insGTGTATACATATATATATATATATATAT ATATATATATATATATAT	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLIC5_chr6_45893456_46020860	46006093	C C	CATATATA others(39): Show CATATATATATATATACACATGTATAAATACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0082 a0001c0001t0017g0082	1	340	0.0029	46	c.63+ others(61): Show c.63+9386_63+9387insATATATATATATATATGTATTTATACATGT GTATATATATATATAT	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5			chr6	TogoVar
CLMP_chr11_123064872_123200248	123119064	T T	TCTCTCTC others(39): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0131 a0001c0001t0012g0131	1	254	0.0039	46	c.29- others(63): Show c.29-21113_29-21112insGGAGAGGGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAG	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123150479	G G	GAAAGAAA others(39): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0138 a0001c0001t0003g0138	1	254	0.0039	46	c.28+ others(63): Show c.28+44433_28+44434insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLSTN2_chr3_139930185_140582397	139955112	C C	CTATATAT others(39): Show CTATATATATATATATATATATATGGCAATATTGCTATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0021 a0001c0019t0021	a0001c0019t0021g0036 a0001c0019t0021g0036	1	110	0.0091	46	c.109 others(65): Show c.109+19652_109+19653insGGCAATATTGCTATATATATATATAT ATATATATATATATATATAT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLTCL1_chr22_19174473_19296719	19291858	C C	CCCCGCCC others(39): Show CCCCGCCCCTGCCCCCGCCTCTGCCCCGCCCCTGCCCCCCGCCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG02451.hp2 HG01255.hp2 HG02451.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0180 a0001c0003t0001g0184 a0001c0003t0001g0180 a0001c0003t0001g0184	2	346	0.0058	46	c.-21 others(55): Show c.-218_-217insCAGAGGCGGGGGGCAGGGGCGGGGCAGAGGCGGGGG CAGGGGCGGG	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding		140		chr22	TogoVar
CLUL1_chr18_591988_655182	623034	C C	CTTTTTTT others(39): Show CTTTTTTTTTTTTTTTTTGAGACTTACTTGCCTTGGAGAAACAACTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	414	0.0024	46	c.256 others(63): Show c.256-1816_256-1815insTTGAGACTTACTTGCCTTGGAGAAACAA CTTTTTTTTTTTTTTTTT	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CLUL1_chr18_591988_655182	627027	G G	GAGAGAGA others(39): Show GAGAGAGAAAGAAAGAGAAAAGAAGAAAGAGAAAGAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	414	0.0024	46	c.424 others(59): Show c.424-69_424-68insGAGAGAAAGAAAGAGAAAAGAAGAAAGAGAAA GAAAGAAAAGAAAA	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CLUL1_chr18_591988_655182	627030	A A	AGAAAGAA others(39): Show AGAAAGAAAGAGAGAAAAGAAGAAAGAGAAAGAAAGAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	414	0.0024	46	c.424 others(59): Show c.424-67_424-66insGAAAGAAAGAGAGAAAAGAAGAAAGAGAAAGA AAGAAAAGAAAAAG	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9			chr18	TogoVar
CMBL_chr5_10272595_10312902	10312590	A A	ATGCAGTG others(39): Show ATGCAGTGGCAGACAGTTTGGCAATGCTGTTGACTGCAGTTATGTAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	350	0.0029	46	c.-49 others(57): Show c.-4986_-4985insCTACATAACTGCAGTCAACAGCATTGCCAAACTG TCTGCCACTGCA	CMBL	ENSG00000164237.9	transcript	ENST00000296658.4	protein_coding		4689		chr5	TogoVar
CMKLR2_chr2_206170316_206218371	206172773	A A	AGGGAGAC others(39): Show AGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	322	0.0031	46	c.34 others(57): Show c.3406_*3407insCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCT CTCCCGTCTCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2542		chr2	TogoVar
CMTM4_chr16_66609750_66701743	66631147	A A	ACCCCGTC others(39): Show ACCCCGTCCGGGAGGGAGGTGGGGGTCAGCCCCCGCCAGGCCAGCCG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00558.hp2 others(78): Show HG00280.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG01099.hp2 HG01109.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01496.hp2 HG01952.hp1 HG01952.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp2 HG02129.hp1 HG02145.hp2 HG02451.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02735.hp1 HG02818.hp1 HG02886.hp2 HG03225.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp2 HG03927.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18963.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18978.hp1 NA18981.hp2 NA18986.hp2 NA18989.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19012.hp2 NA19054.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19068.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 others(13): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0024 a0001c0001t0028 a0001c0001t0029 a0001c0001t0041 a0001c0002t0002 a0001c0002t0009 a0001c0002t0015 a0001c0002t0027 a0001c0003t0002 a0001c0003t0025 a0001c0003t0044 a0001c0004t0003 a0001c0006t0026	a0001c0001t0003g0002 a0001c0001t0003g0210 a0001c0001t0003g0250 others(77): Show a0001c0001t0003g0002 a0001c0001t0003g0210 a0001c0001t0003g0250 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0012g0082 a0001c0001t0012g0083 a0001c0001t0012g0084 a0001c0001t0024g0316 a0001c0001t0024g0317 a0001c0001t0028g0054 a0001c0001t0029g0061 a0001c0001t0041g0288 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0009g0298 a0001c0002t0009g0299 a0001c0002t0009g0300 a0001c0002t0009g0310 a0001c0002t0015g0044 a0001c0002t0015g0045 a0001c0002t0027g0040 a0001c0003t0002g0003 a0001c0003t0002g0004 a0001c0003t0002g0005 a0001c0003t0002g0006 a0001c0003t0002g0007 a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 a0001c0003t0025g0011 a0001c0003t0044g0318 a0001c0004t0003g0134 a0001c0006t0026g0053	81	320	0.2531	46	c.363 others(63): Show c.363+5257_363+5258insCGGCTGGCCTGGCGGGGGCTGACCCCCA CCTCCCTCCCGGACGGGG	CMTM4	ENSG00000183723.13	transcript	ENST00000394106.7	protein_coding	2/3			chr16	TogoVar
CMTM4_chr16_66609750_66701743	66631147	A A	ACCCCGTC others(39): Show ACCCCGTCTGGGAGGGAGGTGGGGGTCAGCCCCCGCCAGGCCAGCCG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01069.hp2 HG00609.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0012 a0001c0001t0007g0016 a0001c0001t0007g0012 a0001c0001t0007g0016	2	320	0.0063	46	c.363 others(63): Show c.363+5257_363+5258insCGGCTGGCCTGGCGGGGGCTGACCCCCA CCTCCCTCCCAGACGGGG	CMTM4	ENSG00000183723.13	transcript	ENST00000394106.7	protein_coding	2/3			chr16	TogoVar
CMTM4_chr16_66609750_66701743	66631155	C C	TGGGAGGG others(39): Show TGGGAGGGAGGTGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02572.hp2 HG02922.hp2 others(2): Show HG02074.hp1 HG02572.hp2 HG02922.hp2 HG03486.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0013 a0001c0001t0007g0014 a0001c0001t0007g0015 others(2): Show a0001c0001t0007g0013 a0001c0001t0007g0014 a0001c0001t0007g0015 a0001c0001t0007g0017 a0001c0001t0007g0018	5	320	0.0156	46	c.363 others(63): Show c.363+5250_363+5251insGACGGGGCGGCTGGCCTGGCGGGGGCTG ACCCCCACCTCCCTCCCA	CMTM4	ENSG00000183723.13	transcript	ENST00000394106.7	protein_coding	2/3			chr16	TogoVar
CNGA2_chrX_151729746_151750564	151742927	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0116 a0003c0003t0002g0116	1	336	0.0030	46	c.590 others(61): Show c.590-152_590-151insATATATATATATATATATATATATATACAT ACATATATATATATAT	CNGA2	ENSG00000183862.6	transcript	ENST00000329903.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
CNGA2_chrX_151729746_151750564	151742929	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATACACACATAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0055 a0003c0003t0002g0055	1	336	0.0030	46	c.590 others(61): Show c.590-152_590-151insATATATATATATATATATATATATACACAC ATACATATATATATAT	CNGA2	ENSG00000183862.6	transcript	ENST00000329903.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
CNGA2_chrX_151729746_151750564	151742929	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0093 a0003c0003t0002g0093	1	336	0.0030	46	c.590 others(61): Show c.590-152_590-151insATATATATATATATATATATATATATATAC ATACATATATATATAT	CNGA2	ENSG00000183862.6	transcript	ENST00000329903.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
CNGB1_chr16_57877340_57976128	57879799	C C	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTTTTCTTTCTTTCCTTTCTTTCTTTCTTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	360	0.0028	46	c.43 others(57): Show c.4364_*4365insAAGGAAAGAAAGAAAGAAAGGAAAGAAAGAAAAA GAAAGAAAGAAA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2540		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879799	C C	CTTTCTTT others(39): Show CTTTCTTTCTTTTTCTTTCTTTCCTTTCTTTCTTTCTTTCCTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG02735.hp1 NA18956.hp2 others(1): Show HG01168.hp1 HG02735.hp1 NA18956.hp2 NA19056.hp1	a0001 a0002 a0016 a0001 a0002 a0016	a0001c0004 a0001c0007 a0002c0005 others(1): Show a0001c0004 a0001c0007 a0002c0005 a0016c0090	a0001c0004t0001 a0001c0007t0008 a0002c0005t0001 others(1): Show a0001c0004t0001 a0001c0007t0008 a0002c0005t0001 a0016c0090t0010	a0001c0004t0001g0150 a0001c0007t0008g0356 a0002c0005t0001g0101 others(1): Show a0001c0004t0001g0150 a0001c0007t0008g0356 a0002c0005t0001g0101 a0016c0090t0010g0220	4	360	0.0111	46	c.43 others(57): Show c.4364_*4365insAAAGAAGGAAAGAAAGAAAGAAAGGAAAGAAAGA AAAAGAAAGAAA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2540		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879799	C C	CTTTCTTT others(39): Show CTTTCTTTTTCTTTCTTTCCTTTCTTTCTTTCTTTCCTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG02040.hp2 NA18972.hp2 HG00544.hp2 HG02040.hp2 NA18972.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0005 a0001c0004 a0002c0005	a0001c0004t0001 a0002c0005t0001 a0001c0004t0001 a0002c0005t0001	a0001c0004t0001g0117 a0001c0004t0001g0119 a0002c0005t0001g0319 a0001c0004t0001g0117 a0001c0004t0001g0119 a0002c0005t0001g0319	3	360	0.0083	46	c.43 others(57): Show c.4364_*4365insAAAGAAAGAAGGAAAGAAAGAAAGAAAGGAAAGA AAGAAAAAGAAA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2540		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879799	C C	CTTTTTCT others(39): Show CTTTTTCTTTCTTTCCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 NA18942.hp2 NA19067.hp1 others(1): Show HG03831.hp2 NA18942.hp2 NA19067.hp1 NA19067.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0017 others(1): Show a0001c0001 a0001c0003 a0001c0017 a0002c0005	a0001c0001t0017 a0001c0003t0001 a0001c0017t0017 others(1): Show a0001c0001t0017 a0001c0003t0001 a0001c0017t0017 a0002c0005t0001	a0001c0001t0017g0225 a0001c0003t0001g0202 a0001c0017t0017g0033 others(1): Show a0001c0001t0017g0225 a0001c0003t0001g0202 a0001c0017t0017g0033 a0002c0005t0001g0332	4	360	0.0111	46	c.43 others(57): Show c.4364_*4365insAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAAGGA AAGAAAGAAAAA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2540		chr16	TogoVar
CNIH4_chr1_224351879_224384452	224363294	T T	TCGGCCTC others(39): Show TCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0087 a0001c0001t0016g0087	1	324	0.0031	46	c.139 others(63): Show c.139-2584_139-2539dupCGGCCTCCCAAAGTGCTGGGATTACAGG CATGAGCCACTGCACCCA	CNIH4	ENSG00000143771.12	transcript	ENST00000465271.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNOT10_chr3_32680188_32778875	32761604	G G	GGAGTGCA others(39): Show GGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCCCA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	354	0.0028	46	c.171 others(65): Show c.1710-1127_1710-1082dupAGTGCAGTGGCATGATCTCAGCTCAC TGCAACCTCTGCCTCCCCAG	CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT3_chr19_54132762_54160681	54133769	C C	CTCCCTCC others(39): Show CTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	223	0.0045	46	c.-42 others(57): Show c.-4275_-4274insTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCT CCCCTCCCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3992		chr19	TogoVar

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