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
SEH1L_chr18_12943011_12992531	12980708	T T	TTCCCTCA others(42): Show TTCCCTCACGGACGGGGCGGCTGGCCGGGCGGGGAGCTGACCTCCCCACC	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18944.hp1 NA18966.hp2 others(2): Show HG02132.hp2 NA18944.hp1 NA18966.hp2 NA18983.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0243 a0001c0001t0001g0251 others(2): Show a0001c0001t0001g0230 a0001c0001t0001g0243 a0001c0001t0001g0251 a0001c0001t0001g0285 a0001c0001t0001g0286	5	388	0.0129	49	c.762 others(66): Show c.762-1804_762-1803insACGGACGGGGCGGCTGGCCGGGCGGGGA GCTGACCTCCCCACCTCCCTC	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEH1L_chr18_12943011_12992531	12980708	T T	TTCCCTCC others(42): Show TTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGAGCTGACCTCCCCACC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	388	0.0026	49	c.762 others(66): Show c.762-1803_762-1802insTGGACGGGGCGGCTGGCCGGGCGGGGAG CTGACCTCCCCACCTCCCTCC	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEH1L_chr18_12943011_12992531	12980725	C C	CGGCTGGC others(42): Show CGGCTGGCCGGGCGGGGAGCTGACCTCCCCACCTCCCTCCCGGACGGGGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(298): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02145.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 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0002c0002 a0002c0008 a0003c0005 a0004c0006 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0007t0001 a0002c0002t0001 a0002c0008t0001 a0003c0005t0001 a0004c0006t0001 a0005c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(293): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0300 a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0001t0001g0355 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0001g0382 a0001c0001t0002g0007 a0001c0001t0002g0023 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0376 a0001c0001t0003g0013 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0330 a0001c0001t0004g0312 a0001c0001t0004g0321 a0001c0001t0004g0322 a0001c0001t0004g0323 a0001c0001t0004g0326 a0001c0001t0004g0327 a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0005g0311 a0001c0001t0006g0335 a0001c0001t0006g0338 a0001c0003t0001g0360 a0001c0003t0002g0361 a0001c0003t0002g0362 a0001c0003t0002g0363 a0001c0003t0002g0364 a0001c0003t0002g0365 a0001c0003t0002g0366 a0001c0003t0002g0367 a0001c0004t0001g0346 a0001c0004t0001g0347 a0001c0004t0001g0348 a0001c0004t0001g0349 a0001c0004t0001g0350 a0001c0004t0001g0351 a0001c0007t0001g0233 a0001c0007t0001g0236 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0104 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0110 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0121 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0177 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0188 a0002c0002t0001g0191 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0200 a0002c0002t0001g0205 a0002c0002t0001g0213 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0232 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0356 a0002c0002t0001g0375 a0002c0008t0001g0178 a0003c0005t0001g0352 a0003c0005t0001g0353 a0004c0006t0001g0144 a0004c0006t0001g0354 a0005c0009t0001g0189	301	388	0.7758	49	c.762 others(66): Show c.762-1781_762-1780insGGGGAGCTGACCTCCCCACCTCCCTCCC GGACGGGGTGGCTGGCCGGGC	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEH1L_chr18_12943011_12992531	12980725	C C	CGGCTGGC others(42): Show CGGCTGGCCGGGCGGGGAGCTGACCTCCCCACCTCCCTCCCGGATGGGGT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	388	0.0026	49	c.762 others(66): Show c.762-1781_762-1780insGGGGAGCTGACCTCCCCACCTCCCTCCC GGATGGGGTGGCTGGCCGGGC	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SELENOI_chr2_26341143_26400885	26370797	A A	ACCTCCCG others(42): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03453.hp2 HG02886.hp2 HG03453.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0006 a0001c0006t0006 a0001c0005t0006 a0001c0006t0006	a0001c0005t0006g0027 a0001c0006t0006g0028 a0001c0005t0006g0027 a0001c0006t0006g0028	2	334	0.0060	49	c.311 others(66): Show c.311-2546_311-2498dupGGGCGGGGGGCTGACACCCCCACCTCCC TCCCGGACGGGGCGGCTGGCC	SELENOI	ENSG00000138018.19	transcript	ENST00000260585.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SEMA3A_chr7_83950777_84199789	84091079	T T	TGAAAGAA others(42): Show TGAAAGAAGAGAAGAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	276	0.0036	49	c.453 others(68): Show c.453+19390_453+19391insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTCTCTTCTCTTCTTTC	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA5A_chr5_9030033_9551075	9353096	A A	AAGGAAAG others(42): Show AAGGAAAGGAAAGGAAAGGGAAAGGAAAGGAAAGGAAAGGAAAGGGAAAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0086 a0001c0005t0007g0086	1	134	0.0075	49	c.125 others(68): Show c.125-15285_125-15284insCTTTCCCTTTCCTTTCCTTTCCTTTC CTTTCCCTTTCCTTTCCTTTCCT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SENP1_chr12_48037897_48111079	48104221	A A	AAAAAAAT others(42): Show AAAAAAATATATATATAGAGAGAGAGAGAGAGAGACGGGGGGGGGGGAAG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0313 a0001c0001t0004g0313	1	394	0.0025	49	c.-45 others(66): Show c.-45+1806_-45+1807insCTTCCCCCCCCCCCGTCTCTCTCTCTCT CTCTCTATATATATATTTTTT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	1/17			chr12	TogoVar
SEPTIN14_chr7_55788540_55867752	55830349	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0076 a0001c0001t0030g0076	1	390	0.0026	49	c.720 others(66): Show c.720+4075_720+4076insAAAAAAAAAAAAAAAAATATATATATAT ATATATATATATATATATATA	SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	6/9			chr7	TogoVar
SERAC1_chr6_158104519_158173262	158169686	A A	ATATATAT others(42): Show ATATATATTATATAATATATTGTATATTATATATTATATATATTGTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	366	0.0027	49	c.-15 others(60): Show c.-1549_-1548insATATACAATATATATAATATATAATATACAATAT ATTATATAATATATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1425		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169745	T T	TATAATAT others(42): Show TATAATATATAATATTGTATATTATATATTGTATATTATATAATATATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	366	0.0027	49	c.-16 others(60): Show c.-1608_-1607insCAATATATTATATAATATACAATATATAATATAC AATATTATATATTAT	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1484		chr6	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 NA18977.hp2 HG01943.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0050 a0001c0001t0016 a0001c0001t0050	a0001c0001t0016g0018 a0001c0001t0050g0236 a0001c0001t0016g0018 a0001c0001t0050g0236	2	368	0.0054	49	c.92 others(60): Show c.9279_*9280insATATATATATATATATATATATATATATATATTT TTTTTTTTTTTTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERPINB7_chr18_63770418_63810370	63783216	G G	GAGAAAGA others(42): Show GAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0384 a0001c0004t0006g0384	1	432	0.0023	49	c.168 others(64): Show c.168+679_168+680insAAGAAAGAAAGAAAGAAAGAGAAAGAAAGA AAGAAAGAAAGAAAGAAGA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB7_chr18_63770418_63810370	63786099	G G	GTATATAT others(42): Show GTATATATGTATATATGTATATATATACGTATATACATATAATATAAGTA	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19058.hp1 NA19081.hp2 others(1): Show NA19054.hp2 NA19058.hp1 NA19081.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0217 a0001c0001t0003g0235 a0001c0001t0003g0236 others(1): Show a0001c0001t0003g0217 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0238	4	432	0.0093	49	c.168 others(66): Show c.168+3566_168+3567insGTATATATGTATATATATACGTATATAC ATATAATATAAGTATATATAT	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SESN3_chr11_95160513_95236202	95167475	C C	CCCCATAT others(42): Show CCCCATATATATATATATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0074 a0001c0002t0041g0074	1	392	0.0026	49	c.57 others(60): Show c.5779_*5780insATATATATATATATATATATATATATATATATAT ATATATATATATGGG	SESN3	ENSG00000149212.12	transcript	ENST00000536441.7	protein_coding	10/10	5779		chr11	TogoVar
SEZ6L_chr22_26164462_26388596	26343758	G G	GGCTAGTT others(42): Show GGCTAGTTTGGGTAACAAAAAAGAGAGAACAGTTCCTGATTGTTATTCCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0165 a0001c0006t0009g0165	1	240	0.0042	49	c.221 others(68): Show c.2212+3128_2212+3176dupCTAGTTTGGGTAACAAAAAAGAGAGA ACAGTTCCTGATTGTTATTCCTG	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGSM2_chr17_2332501_2386054	2355138	G G	GGGGGAAG others(42): Show GGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02083.hp1 HG02132.hp1 others(12): Show HG02056.hp1 HG02083.hp1 HG02132.hp1 HG02602.hp2 HG02717.hp1 HG02976.hp2 HG03471.hp1 HG03579.hp1 NA18522.hp1 NA18942.hp2 NA18952.hp2 NA19004.hp2 NA19010.hp1 NA19011.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0005t0002 a0002c0004t0001	a0001c0001t0001g0081 a0001c0001t0001g0122 a0001c0001t0001g0123 others(12): Show a0001c0001t0001g0081 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0332 a0001c0001t0001g0349 a0001c0003t0001g0194 a0001c0003t0001g0294 a0001c0003t0001g0338 a0001c0003t0001g0360 a0001c0003t0001g0362 a0001c0003t0001g0387 a0001c0003t0002g0274 a0001c0003t0002g0380 a0001c0005t0002g0272 a0002c0004t0001g0311	15	422	0.0356	49	c.134 others(66): Show c.134-6495_134-6494insAAGGGACCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2355190	G G	GAAAGGGA others(42): Show GAAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02559.hp1 HG03225.hp1 HG01167.hp1 HG02559.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0043 a0002c0002 a0002c0043	a0002c0002t0001 a0002c0043t0001 a0002c0002t0001 a0002c0043t0001	a0002c0002t0001g0376 a0002c0002t0001g0397 a0002c0043t0001g0364 a0002c0002t0001g0376 a0002c0002t0001g0397 a0002c0043t0001g0364	3	422	0.0071	49	c.134 others(66): Show c.134-6447_134-6446insAAAGGGACCCCATATCTTAGAATGGTGG AATCGGGGTGTAAGGGTTGGC	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23			chr17	TogoVar
SGSM2_chr17_2332501_2386054	2355293	A A	AAGGGACC others(42): Show AAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02886.hp2 HG02895.hp2 others(2): Show HG01891.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp2	a0001 a0025 a0001 a0025	a0001c0001 a0001c0005 a0025c0047 a0001c0001 a0001c0005 a0025c0047	a0001c0001t0001 a0001c0005t0002 a0025c0047t0001 a0001c0001t0001 a0001c0005t0002 a0025c0047t0001	a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0001g0085 others(2): Show a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0001g0085 a0001c0005t0002g0084 a0025c0047t0001g0282	5	422	0.0119	49	c.134 others(66): Show c.134-6340_134-6339insACCCCATATCTTAGAATGGTGGAATCGG GGTGTAAGGGTTGGGGCAGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2355794	A A	ACCCCATA others(42): Show ACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGCAGGGG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0043 a0002c0043	a0002c0043t0001 a0002c0043t0001	a0002c0043t0001g0364 a0002c0043t0001g0364	1	422	0.0024	49	c.134 others(66): Show c.134-5800_134-5799insCAGGGGCCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2355834	G G	GGGGGAAG others(42): Show GGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp2 HG02615.hp2 HG02647.hp2	a0007 a0027 a0007 a0027	a0007c0007 a0027c0015 a0007c0007 a0027c0015	a0007c0007t0001 a0027c0015t0005 a0007c0007t0001 a0027c0015t0005	a0007c0007t0001g0140 a0027c0015t0005g0079 a0007c0007t0001g0140 a0027c0015t0005g0079	2	422	0.0047	49	c.134 others(66): Show c.134-5749_134-5701dupAAGGGACCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2355983	G G	GGGGGAAG others(42): Show GGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp2 HG02615.hp2 HG02647.hp2	a0007 a0027 a0007 a0027	a0007c0007 a0027c0015 a0007c0007 a0027c0015	a0007c0007t0001 a0027c0015t0005 a0007c0007t0001 a0027c0015t0005	a0007c0007t0001g0140 a0027c0015t0005g0079 a0007c0007t0001g0140 a0027c0015t0005g0079	2	422	0.0047	49	c.134 others(66): Show c.134-5608_134-5560dupGGTTGGGGAAGGGACCCCATATCTTAGA ATGGTGGAATCGGGGTGTAAG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2356082	G G	GGGGGAAG others(42): Show GGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0201 a0002c0002t0003g0201	1	422	0.0024	49	c.134 others(66): Show c.134-5550_134-5502dupAAGGGACCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2356231	G G	GGGGGAAG others(42): Show GGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02895.hp1 HG02897.hp2 others(19): Show HG00558.hp1 HG02895.hp1 HG02897.hp2 HG03225.hp2 HG03471.hp1 HG03516.hp1 HG03579.hp1 HG03942.hp1 HG04204.hp1 NA18944.hp1 NA18946.hp2 NA18961.hp1 NA18973.hp2 NA18979.hp2 NA18981.hp1 NA18990.hp2 NA19003.hp2 NA19004.hp2 NA19065.hp2 NA19067.hp1 NA19091.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0009	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0004c0011 a0005c0009 a0009c0021	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(5): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0019 a0001c0005t0002 a0004c0011t0001 a0005c0009t0002 a0009c0021t0001	a0001c0001t0001g0122 a0001c0001t0001g0351 a0001c0003t0001g0054 others(19): Show a0001c0001t0001g0122 a0001c0001t0001g0351 a0001c0003t0001g0054 a0001c0003t0001g0258 a0001c0003t0001g0339 a0001c0003t0001g0340 a0001c0003t0001g0353 a0001c0003t0001g0362 a0001c0003t0001g0374 a0001c0003t0001g0375 a0001c0003t0001g0379 a0001c0003t0001g0381 a0001c0003t0001g0386 a0001c0003t0001g0393 a0001c0003t0002g0273 a0001c0003t0019g0352 a0001c0005t0002g0272 a0004c0011t0001g0155 a0005c0009t0002g0378 a0005c0009t0002g0383 a0005c0009t0002g0384 a0009c0021t0001g0174	22	422	0.0521	49	c.134 others(66): Show c.134-5401_134-5353dupAAGGGACCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2356330	G G	GGGGGAAG others(42): Show GGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0043 a0002c0043	a0002c0043t0001 a0002c0043t0001	a0002c0043t0001g0364 a0002c0043t0001g0364	1	422	0.0024	49	c.134 others(66): Show c.134-5302_134-5254dupAAGGGACCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2356540	A A	ACCCCATA others(42): Show ACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGGGGCAGGGG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0348 a0001c0001t0001g0348	1	422	0.0024	49	c.134 others(66): Show c.134-5085_134-5084insGAATGGTGGAATCGGGGTGTAAGGGTTG GGGCAGGGGCCCCATATCTTA	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2356576	G G	GGTTGGGG others(42): Show GGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01099.hp2 HG01891.hp2 others(24): Show HG00099.hp1 HG01099.hp2 HG01891.hp2 HG02056.hp1 HG02083.hp1 HG02258.hp2 HG02280.hp1 HG02559.hp2 HG02602.hp1 HG02976.hp2 HG03139.hp2 HG03486.hp1 HG03486.hp2 HG03710.hp1 NA18522.hp1 NA18906.hp2 NA18942.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18992.hp1 NA19010.hp2 NA19011.hp1 NA19077.hp1 NA19240.hp2 NA20129.hp2 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0002c0012 a0004c0010 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0003t0001 a0001c0003t0002 a0001c0003t0016 a0001c0005t0002 a0002c0012t0001 a0004c0010t0001 a0004c0011t0001	a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0332 others(22): Show a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0332 a0001c0001t0002g0382 a0001c0001t0009g0355 a0001c0003t0001g0225 a0001c0003t0001g0308 a0001c0003t0001g0325 a0001c0003t0001g0338 a0001c0003t0001g0354 a0001c0003t0001g0356 a0001c0003t0001g0360 a0001c0003t0001g0361 a0001c0003t0001g0373 a0001c0003t0001g0387 a0001c0003t0002g0012 a0001c0003t0002g0274 a0001c0003t0002g0380 a0001c0003t0016g0266 a0001c0005t0002g0013 a0001c0005t0002g0275 a0002c0012t0001g0129 a0002c0012t0001g0372 a0004c0010t0001g0350 a0004c0011t0001g0385	27	422	0.0640	49	c.134 others(66): Show c.134-5054_134-5053insAAGGGACCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGAGTTGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH3BP2_chr4_2788085_2846096	2802659	G G	GTGTGTGT others(42): Show GTGTGTGTGTATATATGTATGTATGTGGTGTGTGTATATATATATGTATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02615.hp2 others(2): Show HG02257.hp2 HG02280.hp2 HG02615.hp2 HG03209.hp2 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0037 a0001c0003t0014 a0001c0003t0037	a0001c0003t0014g0192 a0001c0003t0014g0193 a0001c0003t0014g0196 others(2): Show a0001c0003t0014g0192 a0001c0003t0014g0193 a0001c0003t0014g0196 a0001c0003t0014g0197 a0001c0003t0037g0195	5	378	0.0132	49	c.-5+ others(64): Show c.-5+9530_-5+9531insATATATGTATGTATGTGGTGTGTGTATATA TATATGTATATGTGTGTGT	SH3BP2	ENSG00000087266.17	transcript	ENST00000503393.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3BP2_chr4_2788085_2846096	2809029	A A	AGGGCTCA others(42): Show AGGGCTCAGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCACCCTCCCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03130.hp1 HG02486.hp1 HG03130.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0077 a0001c0005t0006 a0001c0005t0077	a0001c0005t0006g0079 a0001c0005t0077g0078 a0001c0005t0006g0079 a0001c0005t0077g0078	2	378	0.0053	49	c.-4- others(66): Show c.-4-11538_-4-11537insCCGGGCTCAGTGCCCGCCTTCCCCCAGG CTCTGTGCCCACCCACCCTCC	SH3BP2	ENSG00000087266.17	transcript	ENST00000503393.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3BP2_chr4_2788085_2846096	2809078	A A	AGGGCTCA others(42): Show AGGGCTCAGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCACCCTCCCC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0096 a0001c0004t0096	a0001c0004t0096g0136 a0001c0004t0096g0136	1	378	0.0027	49	c.-4- others(66): Show c.-4-11489_-4-11488insCCGGGCTCAGTGCCCGCCTTCCCCCAGG CTCTGTGCCCACCCACCCTCC	SH3BP2	ENSG00000087266.17	transcript	ENST00000503393.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3BP2_chr4_2788085_2846096	2809127	A A	AGGGCTCA others(42): Show AGGGCTCAGTGCCCGCCTTCCCCCAGGCTCTGTGCCCACCCACCCTCCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(78): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp2 HG00741.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01978.hp1 HG01981.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02135.hp1 HG02523.hp1 HG02622.hp1 HG02886.hp1 HG03017.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04204.hp2 NA18747.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18975.hp1 NA18982.hp1 NA18983.hp1 NA18993.hp1 NA18994.hp1 NA18999.hp1 NA19002.hp2 NA19010.hp2 NA19012.hp1 NA19055.hp2 NA19056.hp2 NA19060.hp2 NA19066.hp1 NA19067.hp2 NA19076.hp2 NA19080.hp1 NA19088.hp2 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(20): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0012 a0001c0002t0017 a0001c0002t0028 a0001c0002t0029 a0001c0002t0032 a0001c0002t0034 a0001c0002t0051 a0001c0002t0057 a0001c0002t0060 a0001c0002t0061 a0001c0002t0076 a0001c0002t0084 a0001c0002t0087 a0001c0002t0090 a0001c0002t0091 a0001c0004t0002 a0001c0004t0007 a0001c0004t0026	a0001c0002t0001g0025 a0001c0002t0001g0142 a0001c0002t0001g0148 others(62): Show a0001c0002t0001g0025 a0001c0002t0001g0142 a0001c0002t0001g0148 a0001c0002t0001g0161 a0001c0002t0001g0166 a0001c0002t0001g0172 a0001c0002t0001g0186 a0001c0002t0001g0219 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0155 a0001c0002t0002g0167 a0001c0002t0002g0171 a0001c0002t0002g0177 a0001c0002t0002g0180 a0001c0002t0002g0188 a0001c0002t0002g0190 a0001c0002t0002g0216 a0001c0002t0003g0001 a0001c0002t0003g0003 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0026 a0001c0002t0003g0141 a0001c0002t0003g0151 a0001c0002t0003g0154 a0001c0002t0003g0158 a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0003g0164 a0001c0002t0003g0165 a0001c0002t0003g0182 a0001c0002t0003g0185 a0001c0002t0003g0264 a0001c0002t0003g0265 a0001c0002t0004g0175 a0001c0002t0004g0178 a0001c0002t0004g0179 a0001c0002t0007g0112 a0001c0002t0007g0149 a0001c0002t0007g0152 a0001c0002t0007g0189 a0001c0002t0012g0147 a0001c0002t0017g0007 a0001c0002t0017g0156 a0001c0002t0028g0003 a0001c0002t0029g0181 a0001c0002t0032g0187 a0001c0002t0034g0176 a0001c0002t0051g0001 a0001c0002t0057g0173 a0001c0002t0060g0184 a0001c0002t0061g0003 a0001c0002t0076g0170 a0001c0002t0084g0168 a0001c0002t0087g0153 a0001c0002t0090g0026 a0001c0002t0091g0183 a0001c0004t0002g0022 a0001c0004t0002g0150 a0001c0004t0007g0159 a0001c0004t0007g0169 a0001c0004t0026g0157	81	378	0.2143	49	c.-4- others(66): Show c.-4-11440_-4-11439insCCGGGCTCAGTGCCCGCCTTCCCCCAGG CTCTGTGCCCACCCACCCTCC	SH3BP2	ENSG00000087266.17	transcript	ENST00000503393.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHISA5_chr3_48462876_48509174	48483711	T T	TGGGGGGC others(42): Show TGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02647.hp2 HG02970.hp1 others(3): Show HG01891.hp2 HG02647.hp2 HG02970.hp1 HG03098.hp2 HG03540.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 others(3): Show a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078	6	290	0.0207	49	c.234 others(66): Show c.234-4455_234-4454insGCCAGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCC	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA5_chr3_48462876_48509174	48483722	C C	CCCCCCCA others(42): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02717.hp1 HG03041.hp2 others(1): Show HG02622.hp2 HG02717.hp1 HG03041.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0007 a0001c0005t0001 a0001c0001t0002 a0001c0001t0007 a0001c0005t0001	a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0007g0089 others(1): Show a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0007g0089 a0001c0005t0001g0022	4	290	0.0138	49	c.234 others(66): Show c.234-4466_234-4465insCTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGG	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA5_chr3_48462876_48509174	48483722	C C	CCCCCCCA others(42): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(222): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19070.hp2 NA19076.hp2 NA19079.hp1 NA19080.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(208): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0009g0157 a0001c0001t0010g0171 a0001c0001t0011g0133	225	290	0.7759	49	c.234 others(66): Show c.234-4466_234-4465insCTCAGCCCCCCGCCAGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGG	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHROOM2_chrX_9781429_9954443	9823155	T T	TCTCCTTC others(42): Show TCTCCTTCTCCCTTCTCCTTCTCCCTTCTCCTTCTCCCTTCTCCTTCTTC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0148 a0001c0001t0016g0148	1	256	0.0039	49	c.165 others(68): Show c.165+36447_165+36448insCCTTCTCCCTTCTCCTTCTCCCTTCT CCTTCTCCCTTCTCCTTCTTCCT	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SIGIRR_chr11_400716_419999	401100	A A	ACCCGGCC others(42): Show ACCCGGCCCCGCTCACAACCCGGCCCCGCTCACACCCGCCCCGCTCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	242	0.0041	49	c.47 others(60): Show c.4795_*4796insGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTT GTGAGCGGGGCCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4615		chr11	TogoVar
SIGIRR_chr11_400716_419999	402111	G G	GACCCACT others(42): Show GACCCACTCACACCCCCCCCCGCCCCCCGCCTCACCCCCGCCCCGCTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	242	0.0041	49	c.37 others(60): Show c.3784_*3785insGTGAGCGGGGCGGGGGTGAGGCGGGGGGCGGGGG GGGGTGTGAGTGGGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3604		chr11	TogoVar
SIGIRR_chr11_400716_419999	402828	G G	GCCCCCGC others(42): Show GCCCCCGCTCACCCCGGGACCCGCTCACCCCGACCCCCGCTCACCCCGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	242	0.0041	49	c.30 others(60): Show c.3067_*3068insTCCGGGGTGAGCGGGGGTCGGGGTGAGCGGGTCC CGGGGTGAGCGGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		2887		chr11	TogoVar
SIGIRR_chr11_400716_419999	402837	A A	ACCCCGGG others(42): Show ACCCCGGGACCCGCTCACCCCCGACCCCGCTCACCCCGGACCCCGCTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	242	0.0041	49	c.30 others(60): Show c.3058_*3059insGTGAGCGGGGTCCGGGGTGAGCGGGGTCGGGGGT GAGCGGGTCCCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		2878		chr11	TogoVar
SIGIRR_chr11_400716_419999	403012	T T	TCACCCCC others(42): Show TCACCCCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGCCCCCACTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	242	0.0041	49	c.28 others(60): Show c.2883_*2884insTGAGTGGGGGCGGGGGTGAGCGGGGTCCGGGGTG AGCGGGGCGGGGGTG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		2703		chr11	TogoVar
SIMC1_chr5_176233424_176350989	176305950	T T	TGCCCGGC others(42): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01891.hp1 HG01943.hp1 HG01361.hp1 HG01891.hp1 HG01943.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0349 a0002c0003t0001g0351 a0002c0003t0001g0352 a0002c0003t0001g0349 a0002c0003t0001g0351 a0002c0003t0001g0352	3	360	0.0083	49	c.173 others(68): Show c.1735-7724_1735-7723insGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCC	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0220 a0001c0005t0001g0220	1	292	0.0034	49	c.46+ others(66): Show c.46+16551_46+16552insATATATATATATATATATATATTTTTTT TTTTTTTTTTTTTTTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	292	0.0034	49	c.46+ others(66): Show c.46+16551_46+16552insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0247 a0002c0002t0001g0247	1	292	0.0034	49	c.46+ others(66): Show c.46+16551_46+16552insATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SLC10A7_chr4_146248981_146526940	146285908	G G	GAAGGACT others(42): Show GAAGGACTGAGTTTGGAGTGGTGAGAAGGACTGTGTTTTGAGTGGTGACA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01099.hp2 HG01516.hp1 others(22): Show HG00733.hp2 HG01099.hp2 HG01516.hp1 HG02040.hp2 HG02109.hp1 HG02630.hp2 HG02647.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03041.hp1 HG03098.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp2 NA18612.hp1 NA18942.hp1 NA18965.hp1 NA18968.hp2 NA18969.hp1 NA18992.hp1 NA18994.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0017	a0001c0001t0001g0034 a0001c0001t0003g0212 a0001c0001t0003g0213 others(22): Show a0001c0001t0001g0034 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0004g0016 a0001c0001t0004g0019 a0001c0001t0004g0042 a0001c0001t0004g0077 a0001c0001t0004g0090 a0001c0001t0004g0102 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0133 a0001c0001t0004g0195 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0214 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0221 a0001c0001t0004g0223 a0001c0001t0005g0071 a0001c0001t0017g0089	25	244	0.1025	49	c.774 others(66): Show c.774-2644_774-2643insTGTCACCACTCAAAACACAGTCCTTCTC ACCACTCCAAACTCAGTCCTT	SLC10A7	ENSG00000120519.16	transcript	ENST00000335472.12	protein_coding	9/11			chr4	TogoVar
SLC12A6_chr15_34224784_34342781	34310564	T T	TGTGTGTG others(42): Show TGTGTGTGTGTGTCCCCGTGTCCAGGCTGGTGTTGAACTCCTGGGCTCAA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0037 a0001c0003t0037	a0001c0003t0037g0173 a0001c0003t0037g0173	1	274	0.0037	49	c.271 others(68): Show c.271+25845_271+25846insTTGAGCCCAGGAGTTCAACACCAGCC TGGACACGGGGACACACACACAC	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC12A6_chr15_34224784_34342781	34310643	T T	TGTGTGTG others(42): Show TGTGTGTGTGTCCCCGTGTCCAGGCTGGTGTTGAACTCCTGGGCTCAAGA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02083.hp1 HG02155.hp1 others(3): Show HG02074.hp1 HG02083.hp1 HG02155.hp1 NA18961.hp2 NA18968.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0196 others(3): Show a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0209	6	274	0.0219	49	c.271 others(68): Show c.271+25766_271+25767insTCTTGAGCCCAGGAGTTCAACACCAG CCTGGACACGGGGACACACACAC	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC12A7_chr5_1045384_1117063	1063641	C C	CTCCCCCT others(42): Show CTCCCCCTCCACCCCCACCTCACGAGGCCACAGCCCTCCCGATCTCCACT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03209.hp1 NA19030.hp2 HG01192.hp2 HG03209.hp1 NA19030.hp2	a0001 a0001	a0001c0007 a0001c0009 a0001c0014 a0001c0007 a0001c0009 a0001c0014	a0001c0007t0005 a0001c0009t0006 a0001c0014t0003 a0001c0007t0005 a0001c0009t0006 a0001c0014t0003	a0001c0007t0005g0022 a0001c0009t0006g0017 a0001c0014t0003g0093 a0001c0007t0005g0022 a0001c0009t0006g0017 a0001c0014t0003g0093	3	118	0.0254	49	c.273 others(66): Show c.2739+154_2739+202dupAGTGGAGATCGGGAGGGCTGTGGCCTCG TGAGGTGGGGGTGGAGGGGGA	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	20/23			chr5	TogoVar
SLC15A1_chr13_98678801_98757672	98729109	C C	CCCAGATT others(42): Show CCCAGATTTGATATTAACTGTAAAATATTGTATTAATATTAATATTAAAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0359 a0003c0005t0004g0359	1	408	0.0025	49	c.5-2 others(62): Show c.5-2299_5-2251dupATTTAATATTAATATTAATACAATATTTTACA GTTAATATCAAATCTGG	SLC15A1	ENSG00000088386.17	transcript	ENST00000376503.10	protein_coding	1/22			chr13	TogoVar
SLC15A4_chr12_128788194_128828958	128825913	T T	TTCTCTTT others(42): Show TTCTCTTTTTAAAAAACTTTTTTAAATGTCCGACAGATAGACTGATGGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0006 a0006	a0006c0023 a0006c0023	a0006c0023t0004 a0006c0023t0004	a0006c0023t0004g0089 a0006c0023t0004g0089	1	418	0.0024	49	c.-19 others(60): Show c.-1971_-1970insGACCATCAGTCTATCTGTCGGACATTTAAAAAAG TTTTTTAAAAAGAGA	SLC15A4	ENSG00000139370.12	transcript	ENST00000266771.10	protein_coding		1956		chr12	TogoVar

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