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
PYCR2_chr1_225914878_225929250	225918582	A A	ATTGGTAA others(22): Show ATTGGTAACTTCTCCCGGGCTGTGAGAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0008	1	448	0.0022	29	c.18 others(40): Show c.1872_*1873insATTTCTCACAGCCCGGGAGAAGTTACCAA	PYCR2	ENSG00000143811.20	transcript	ENST00000343818.11	protein_coding		1295		chr1	TogoVar
PYGB_chr20_25243085_25303012	25278280	G G	GCCCTGGG others(22): Show GCCCTGGGACTGGGTCATGGGGCATGTGCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(274): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 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 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0009 a0010 a0011 a0012 a0013	a0001c0001 a0001c0002 a0001c0004 others(16): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0015 a0001c0018 a0001c0021 a0001c0024 a0002c0003 a0003c0005 a0004c0010 a0005c0011 a0009c0022 a0010c0020 a0011c0019 a0012c0017 a0013c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 others(24): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0002t0002 a0001c0004t0002 a0001c0004t0007 a0001c0004t0011 a0001c0006t0001 a0001c0007t0001 a0001c0007t0004 a0001c0009t0005 a0001c0015t0001 a0001c0018t0004 a0001c0021t0002 a0001c0024t0001 a0002c0003t0001 a0002c0003t0014 a0002c0003t0015 a0003c0005t0001 a0003c0005t0017 a0004c0010t0008 a0005c0011t0002 a0009c0022t0012 a0010c0020t0002 a0011c0019t0002 a0012c0017t0001 a0013c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0017 others(229): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0061 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0249 a0001c0001t0001g0263 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0016g0172 a0001c0002t0002g0085 a0001c0002t0002g0138 a0001c0004t0002g0003 a0001c0004t0002g0009 a0001c0004t0002g0010 a0001c0004t0002g0021 a0001c0004t0002g0025 a0001c0004t0002g0026 a0001c0004t0002g0027 a0001c0004t0002g0028 a0001c0004t0002g0040 a0001c0004t0002g0041 a0001c0004t0002g0062 a0001c0004t0002g0063 a0001c0004t0002g0064 a0001c0004t0002g0065 a0001c0004t0002g0066 a0001c0004t0002g0067 a0001c0004t0002g0068 a0001c0004t0002g0069 a0001c0004t0002g0070 a0001c0004t0002g0071 a0001c0004t0002g0072 a0001c0004t0002g0073 a0001c0004t0002g0074 a0001c0004t0002g0075 a0001c0004t0002g0076 a0001c0004t0002g0257 a0001c0004t0002g0265 a0001c0004t0002g0270 a0001c0004t0002g0273 a0001c0004t0002g0274 a0001c0004t0002g0275 a0001c0004t0002g0276 a0001c0004t0002g0277 a0001c0004t0002g0278 a0001c0004t0002g0280 a0001c0004t0002g0282 a0001c0004t0007g0268 a0001c0004t0007g0269 a0001c0004t0011g0264 a0001c0006t0001g0013 a0001c0006t0001g0139 a0001c0006t0001g0141 a0001c0006t0001g0157 a0001c0006t0001g0162 a0001c0007t0001g0122 a0001c0007t0001g0178 a0001c0007t0001g0179 a0001c0007t0004g0254 a0001c0007t0004g0255 a0001c0007t0004g0256 a0001c0009t0005g0266 a0001c0009t0005g0271 a0001c0009t0005g0272 a0001c0015t0001g0133 a0001c0018t0004g0258 a0001c0021t0002g0279 a0001c0024t0001g0149 a0002c0003t0001g0015 a0002c0003t0001g0019 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0039 a0002c0003t0001g0058 a0002c0003t0001g0146 a0002c0003t0001g0190 a0002c0003t0001g0191 a0002c0003t0001g0192 a0002c0003t0001g0193 a0002c0003t0001g0194 a0002c0003t0001g0195 a0002c0003t0001g0196 a0002c0003t0001g0197 a0002c0003t0001g0211 a0002c0003t0001g0212 a0002c0003t0001g0213 a0002c0003t0001g0214 a0002c0003t0001g0215 a0002c0003t0001g0216 a0002c0003t0001g0217 a0002c0003t0001g0218 a0002c0003t0001g0219 a0002c0003t0001g0220 a0002c0003t0001g0221 a0002c0003t0001g0222 a0002c0003t0001g0223 a0002c0003t0001g0224 a0002c0003t0001g0225 a0002c0003t0001g0226 a0002c0003t0001g0227 a0002c0003t0001g0228 a0002c0003t0001g0229 a0002c0003t0001g0230 a0002c0003t0001g0231 a0002c0003t0001g0233 a0002c0003t0001g0234 a0002c0003t0001g0235 a0002c0003t0001g0236 a0002c0003t0001g0237 a0002c0003t0001g0238 a0002c0003t0001g0239 a0002c0003t0001g0240 a0002c0003t0001g0241 a0002c0003t0001g0242 a0002c0003t0001g0243 a0002c0003t0001g0244 a0002c0003t0001g0245 a0002c0003t0014g0015 a0002c0003t0015g0198 a0003c0005t0001g0014 a0003c0005t0001g0130 a0003c0005t0001g0174 a0003c0005t0001g0176 a0003c0005t0017g0175 a0004c0010t0008g0252 a0004c0010t0008g0253 a0005c0011t0002g0003 a0005c0011t0002g0009 a0009c0022t0012g0267 a0010c0020t0002g0028 a0011c0019t0002g0281 a0012c0017t0001g0232 a0013c0016t0001g0246	277	372	0.7446	29	c.856 others(42): Show c.856-36_856-35insTGGGACTGGGTCATGGGGCATGTGCCCCC	PYGB	ENSG00000100994.12	transcript	ENST00000216962.9	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr20	TogoVar
PYGO1_chr15_55533884_55593345	55567197	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	412	0.0024	29	c.50- others(46): Show c.50-18231_50-18203dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	PYGO1	ENSG00000171016.13	transcript	ENST00000563719.4	protein_coding	1/2			chr15	TogoVar
PYM1_chr12_55896413_55932894	55905863	A A	ATATATAT others(22): Show ATATATATATCTATTAGATATATATATTAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG00621.hp1 others(21): Show HG00544.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG01074.hp2 HG01109.hp2 HG01496.hp2 HG01516.hp2 HG02027.hp2 HG02071.hp1 HG02280.hp2 HG02451.hp2 HG02698.hp1 HG02717.hp1 HG03139.hp2 HG03209.hp1 HG03486.hp1 HG04184.hp2 HG06807.hp1 NA18945.hp1 NA18951.hp1 NA18969.hp2 NA18990.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0021 others(16): Show a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0130 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0162 a0001c0001t0001g0215	24	344	0.0698	29	c.38- others(44): Show c.38-2412_38-2384dupATAATATATATATCTAATAGATATATATA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
PYM1_chr12_55896413_55932894	55905947	T T	TTATTATA others(22): Show TTATTATATATATCTATTAGATATATATAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	344	0.0029	29	c.38- others(44): Show c.38-2468_38-2467insTTATATATATCTAATAGATATATATAATA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
PYROXD2_chr10_98378568_98420182	98407744	A A	AGGGGTCA others(22): Show AGGGGTCAGCAGGGATGGAGACCGTCACCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00621.hp2 HG00673.hp2 others(36): Show HG00544.hp1 HG00621.hp2 HG00673.hp2 HG00738.hp1 HG01099.hp1 HG01109.hp1 HG01358.hp2 HG02040.hp1 HG02055.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02523.hp1 HG02723.hp1 HG02809.hp1 HG02970.hp1 HG03130.hp2 HG03195.hp1 HG03486.hp1 HG03540.hp2 HG03834.hp1 NA18947.hp1 NA18952.hp2 NA18959.hp2 NA18962.hp1 NA18971.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18989.hp2 NA18994.hp1 NA19002.hp2 NA19043.hp1 NA19070.hp1 NA19079.hp1 NA19084.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp2	a0001 a0003 a0007 others(2): Show a0001 a0003 a0007 a0009 a0012	a0001c0004 a0003c0003 a0007c0014 others(2): Show a0001c0004 a0003c0003 a0007c0014 a0009c0012 a0012c0010	a0001c0004t0001 a0001c0004t0002 a0003c0003t0001 others(3): Show a0001c0004t0001 a0001c0004t0002 a0003c0003t0001 a0007c0014t0001 a0009c0012t0001 a0012c0010t0001	a0001c0004t0001g0070 a0001c0004t0001g0074 a0001c0004t0002g0061 others(30): Show a0001c0004t0001g0070 a0001c0004t0001g0074 a0001c0004t0002g0061 a0003c0003t0001g0012 a0003c0003t0001g0013 a0003c0003t0001g0014 a0003c0003t0001g0055 a0003c0003t0001g0062 a0003c0003t0001g0063 a0003c0003t0001g0064 a0003c0003t0001g0065 a0003c0003t0001g0066 a0003c0003t0001g0067 a0003c0003t0001g0068 a0003c0003t0001g0069 a0003c0003t0001g0071 a0003c0003t0001g0072 a0003c0003t0001g0073 a0003c0003t0001g0075 a0003c0003t0001g0076 a0003c0003t0001g0078 a0003c0003t0001g0079 a0003c0003t0001g0080 a0003c0003t0001g0081 a0003c0003t0001g0083 a0003c0003t0001g0084 a0003c0003t0001g0085 a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0001g0173 a0007c0014t0001g0077 a0009c0012t0001g0082 a0012c0010t0001g0060	39	418	0.0933	29	c.242 others(43): Show c.242-118_242-90dupGGGTGACGGTCTCCATCCCTGCTGACCCC	PYROXD2	ENSG00000119943.13	transcript	ENST00000370575.5	protein_coding	3/15			chr10	TogoVar
PYROXD2_chr10_98378568_98420182	98407795	C C	CGTCACCC others(22): Show CGTCACCCGGGGTCAGCAGGGATGGAGACT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp1 HG02717.hp1 others(7): Show HG02572.hp1 HG02630.hp1 HG02717.hp1 HG02886.hp1 HG02970.hp2 HG03041.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 NA18906.hp1	a0003 a0011 a0003 a0011	a0003c0003 a0011c0016 a0003c0003 a0011c0016	a0003c0003t0001 a0011c0016t0001 a0003c0003t0001 a0011c0016t0001	a0003c0003t0001g0035 a0003c0003t0001g0036 a0003c0003t0001g0182 others(5): Show a0003c0003t0001g0035 a0003c0003t0001g0036 a0003c0003t0001g0182 a0003c0003t0001g0183 a0003c0003t0001g0184 a0003c0003t0001g0185 a0003c0003t0001g0186 a0011c0016t0001g0181	10	418	0.0239	29	c.241 others(44): Show c.241+108_241+109insAGTCTCCATCCCTGCTGACCCCGGGTGAC	PYROXD2	ENSG00000119943.13	transcript	ENST00000370575.5	protein_coding	3/15			chr10	TogoVar
PZP_chr12_9143840_9213395	9185815	T T	TTTTCTTT others(22): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0001 a0007c0005t0001	a0007c0005t0001g0271 a0007c0005t0001g0271	1	334	0.0030	29	c.154 others(48): Show c.1547-3699_1547-3698insGAAAAGAAAAGAAAAGAAAAGAAAAG AAA	PZP	ENSG00000126838.10	transcript	ENST00000261336.7	protein_coding	13/35			chr12	TogoVar
QRICH1_chr3_49024707_49099071	49050248	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	226	0.0044	29	c.133 others(48): Show c.1339-3003_1339-3002insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	QRICH1	ENSG00000198218.12	transcript	ENST00000395443.7	protein_coding	3/9			chr3	TogoVar
QSOX2_chr9_136201333_136250812	136208291	T T	TGGAGGGT others(22): Show TGGAGGGTGCAGGGAGGGCCAAGGTCGGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0265 a0001c0001t0089g0265	1	392	0.0026	29	c.43 others(38): Show c.436_*437insCCCCGACCTTGGCCCTCCCTGCACCCTCC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	12/12	436		chr9	TogoVar
QSOX2_chr9_136201333_136250812	136208291	T T	TGGAGGGT others(22): Show TGGAGGGTGCAGGGAGGGCCAAGGTGGGGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0090 a0001c0011t0090	a0001c0011t0090g0128 a0001c0011t0090g0128	1	392	0.0026	29	c.43 others(38): Show c.436_*437insGCCCCACCTTGGCCCTCCCTGCACCCTCC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	12/12	436		chr9	TogoVar
QSOX2_chr9_136201333_136250812	136208291	T T	TGGAGGGT others(22): Show TGGAGGGTGCAGGGAGGGCCAAGGTGGGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00558.hp1 others(84): Show HG00099.hp2 HG00408.hp1 HG00558.hp1 HG00621.hp2 HG00673.hp1 HG01069.hp1 HG01106.hp2 HG01123.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02074.hp1 HG02109.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02280.hp1 HG02300.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02738.hp2 HG02895.hp1 HG03041.hp1 HG03139.hp2 HG03225.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03834.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18946.hp2 NA18948.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18962.hp1 NA18963.hp1 NA18968.hp2 NA18971.hp1 NA18979.hp2 NA18982.hp2 NA18988.hp1 NA18990.hp1 NA19001.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19043.hp1 NA19054.hp2 NA19058.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19077.hp1 NA19080.hp1 NA19087.hp2 NA19088.hp2 NA20905.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0014 a0001c0019 a0002c0003 a0008c0018	a0001c0001t0001 a0001c0001t0025 a0001c0002t0001 others(17): Show a0001c0001t0001 a0001c0001t0025 a0001c0002t0001 a0001c0002t0025 a0001c0002t0036 a0001c0002t0072 a0001c0002t0073 a0001c0002t0074 a0001c0002t0075 a0001c0002t0076 a0001c0002t0077 a0001c0002t0078 a0001c0002t0079 a0001c0002t0091 a0001c0005t0001 a0001c0006t0009 a0001c0014t0001 a0001c0019t0071 a0002c0003t0080 a0008c0018t0001	a0001c0001t0001g0030 a0001c0001t0001g0221 a0001c0001t0001g0239 others(70): Show a0001c0001t0001g0030 a0001c0001t0001g0221 a0001c0001t0001g0239 a0001c0001t0001g0313 a0001c0001t0025g0224 a0001c0002t0001g0006 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0017 a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0002t0001g0048 a0001c0002t0001g0051 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0124 a0001c0002t0001g0152 a0001c0002t0001g0163 a0001c0002t0001g0173 a0001c0002t0001g0179 a0001c0002t0025g0110 a0001c0002t0025g0153 a0001c0002t0036g0057 a0001c0002t0036g0060 a0001c0002t0072g0050 a0001c0002t0073g0170 a0001c0002t0074g0154 a0001c0002t0075g0123 a0001c0002t0076g0098 a0001c0002t0077g0070 a0001c0002t0078g0151 a0001c0002t0079g0108 a0001c0002t0091g0082 a0001c0005t0001g0205 a0001c0006t0009g0004 a0001c0006t0009g0015 a0001c0006t0009g0080 a0001c0006t0009g0166 a0001c0006t0009g0168 a0001c0014t0001g0150 a0001c0019t0071g0273 a0002c0003t0080g0316 a0008c0018t0001g0181	87	392	0.2219	29	c.43 others(38): Show c.436_*437insCCCCCACCTTGGCCCTCCCTGCACCCTCC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	12/12	436		chr9	TogoVar
R3HDM1_chr2_135526484_135730269	135627623	A A	ATAACTTA others(22): Show ATAACTTATATTATGTAATAGGAAAACAAT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0118 a0002c0002t0001g0118	1	232	0.0043	29	c.498 others(46): Show c.498-4094_498-4066dupTAACTTATATTATGTAATAGGAAAACAA T	R3HDM1	ENSG00000048991.18	transcript	ENST00000683871.1	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
R3HDM2_chr12_57248764_57436043	57260263	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0293 a0002c0003t0002g0293	1	336	0.0030	29	c.213 others(48): Show c.2132-1205_2132-1204insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	19/23			chr12	TogoVar
R3HDM2_chr12_57248764_57436043	57260263	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAGAAAAAA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA19064.hp2 NA18957.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0314 a0001c0001t0001g0315	2	336	0.0060	29	c.213 others(48): Show c.2132-1205_2132-1204insTTTTTTCTTTTTTTTTTTTTTTTTTT TTT	R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	19/23			chr12	TogoVar
RAB15_chr14_64940816_64977336	64944152	G G	GTTTCATG others(22): Show GTTTCATGGCTGGCTGCTCTATACAGACCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	382	0.0026	29	c.42 others(40): Show c.4201_*4202insTGGTCTGTATAGAGCAGCCAGCCATGAAA	RAB15	ENSG00000139998.16	transcript	ENST00000533601.7	protein_coding		1663		chr14	TogoVar
RAB15_chr14_64940816_64977336	64973893	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0022 a0001c0001t0006g0022	1	382	0.0026	29	c.-18 others(40): Show c.-1818_-1817insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RAB15	ENSG00000139998.16	transcript	ENST00000533601.7	protein_coding		1558		chr14	TogoVar
RAB18_chr10_27499304_27547239	27546498	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG02155.hp2 HG02818.hp1 others(1): Show HG00438.hp1 HG02155.hp2 HG02818.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0004 a0002c0002t0008 a0001c0001t0003 a0001c0001t0004 a0002c0002t0008	a0001c0001t0003g0001 a0001c0001t0004g0228 a0002c0002t0008g0088 a0001c0001t0003g0001 a0001c0001t0004g0228 a0002c0002t0008g0088	4	410	0.0098	29	c.84 others(40): Show c.8447_*8448insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RAB18	ENSG00000099246.18	transcript	ENST00000356940.11	protein_coding		4260		chr10	TogoVar
RAB35_chr12_120090099_120121753	120110290	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0250 a0001c0001t0009g0250	1	414	0.0024	29	c.53- others(44): Show c.53-1824_53-1823insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RAB35	ENSG00000111737.12	transcript	ENST00000229340.10	protein_coding	1/5			chr12	TogoVar
RAB3B_chr1_51902956_51995700	51967521	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0045 a0001c0001t0023g0045	1	62	0.0161	29	c.228 others(46): Show c.228+9368_228+9369insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	RAB3B	ENSG00000169213.7	transcript	ENST00000371655.4	protein_coding	2/4			chr1	TogoVar
RAB3C_chr5_58578075_58864394	58597887	G G	GATAACAT others(22): Show GATAACATGTAATACATTATATATAAGTAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00738.hp2 HG01070.hp1 others(11): Show HG00438.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01952.hp1 HG01952.hp2 HG02027.hp2 HG02738.hp2 HG03490.hp2 NA18612.hp2 NA18989.hp2 NA19007.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0001t0022 a0001c0001t0063 a0001c0001t0064	a0001c0001t0001g0071 a0001c0001t0001g0091 a0001c0001t0001g0094 others(11): Show a0001c0001t0001g0071 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0004g0095 a0001c0001t0005g0086 a0001c0001t0005g0092 a0001c0001t0005g0098 a0001c0001t0015g0096 a0001c0001t0022g0087 a0001c0001t0063g0084 a0001c0001t0064g0093	14	220	0.0636	29	c.24+ others(46): Show c.24+14657_24+14685dupTAACATGTAATACATTATATATAAGTAT A	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB5B_chr12_55969078_56001683	55996003	A A	ATATATAT others(22): Show ATATATATTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0101 a0001c0001t0080g0101	1	382	0.0026	29	c.37 others(40): Show c.3792_*3793insATATATTTTTTTTTTTTTTTTTTTTTTTT	RAB5B	ENSG00000111540.16	transcript	ENST00000360299.10	protein_coding	6/6	3793	INFO_REALIGN_3_PRIME	chr12	TogoVar
RAB6A_chr11_73670638_73766074	73685588	G G	GAAAGTCT others(22): Show GAAAGTCTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19057.hp1 HG02717.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0192 a0001c0001t0004g0298 a0001c0001t0001g0192 a0001c0001t0004g0298	2	354	0.0057	29	c.496 others(46): Show c.496-5869_496-5868insAAAAAAAAAAAAAAAAAAAAAAAGACTT T	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	6/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739278	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	354	0.0028	29	c.71- others(44): Show c.71-8456_71-8455insATATATATATATATATATATATATATATA	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739282	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA19004.hp2 NA18953.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0198 a0001c0001t0001g0141 a0001c0001t0001g0198	2	354	0.0057	29	c.71- others(44): Show c.71-8460_71-8459insATATATATATATATATATATATATATATA	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB7A_chr3_128721183_128819798	128795751	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	314	0.0032	29	c.53+ others(42): Show c.53+348_53+349insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB7A_chr3_128721183_128819798	128809936	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG04184.hp2 NA19088.hp2 HG01106.hp1 HG04184.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0237 a0001c0001t0001g0255 a0001c0001t0001g0181 a0001c0001t0001g0237 a0001c0001t0001g0255	3	314	0.0096	29	c.528 others(46): Show c.528+2267_528+2295dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RABEP2_chr16_28899421_28930238	28917083	C C	CCCACACT others(22): Show CCCACACTCCTATCACCACCATAGAGCTGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	366	0.0027	29	c.433 others(46): Show c.433-2330_433-2302dupTCAGCTCTATGGTGGTGATAGGAGTGTG G	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding	3/12			chr16	TogoVar
RABEPK_chr9_125195542_125239161	125234587	A A	ATATATGT others(22): Show ATATATGTATACATATATAGTATACATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00609.hp1 others(46): Show HG00408.hp2 HG00438.hp2 HG00609.hp1 HG00738.hp1 HG01109.hp2 HG01175.hp1 HG01243.hp1 HG01433.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG02015.hp1 HG02074.hp1 HG02083.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02622.hp2 HG02886.hp2 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp2 HG03834.hp2 NA18522.hp2 NA18747.hp1 NA18945.hp2 NA18962.hp2 NA18967.hp2 NA18977.hp1 NA18981.hp2 NA18987.hp1 NA18994.hp2 NA18999.hp2 NA19043.hp2 NA19057.hp2 NA19079.hp2 NA19085.hp2 NA19087.hp2 NA19089.hp2 NA19240.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0007 a0001c0002 a0002c0007	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0002c0007t0002	a0001c0002t0001g0017 a0001c0002t0001g0177 a0001c0002t0001g0195 others(44): Show a0001c0002t0001g0017 a0001c0002t0001g0177 a0001c0002t0001g0195 a0001c0002t0001g0213 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0281 a0001c0002t0001g0286 a0001c0002t0001g0288 a0001c0002t0001g0291 a0001c0002t0001g0295 a0001c0002t0001g0305 a0001c0002t0002g0010 a0001c0002t0002g0041 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0102 a0001c0002t0002g0122 a0001c0002t0002g0154 a0001c0002t0005g0309 a0001c0002t0005g0310 a0001c0002t0005g0311 a0001c0002t0005g0312 a0001c0002t0005g0313 a0001c0002t0005g0314 a0001c0002t0005g0315 a0001c0002t0005g0318 a0001c0002t0005g0319 a0001c0002t0007g0178 a0001c0002t0008g0057 a0002c0007t0002g0330 a0002c0007t0002g0331 a0002c0007t0002g0332 a0002c0007t0002g0333 a0002c0007t0002g0334	49	388	0.1263	29	c.60 others(38): Show c.607_*608insTATATGTATACATATATAGTATACATATT	RABEPK	ENSG00000136933.17	transcript	ENST00000373538.8	protein_coding		427		chr9	TogoVar
RABGAP1L_chr1_174154520_175000308	174783707	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0127 a0001c0001t0008g0127	1	272	0.0037	29	c.221 others(50): Show c.2212-28105_2212-28104insTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174833466	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0269 a0001c0001t0008g0270 a0001c0001t0008g0269 a0001c0001t0008g0270	2	272	0.0074	29	c.234 others(50): Show c.2340+21508_2340+21509insTATATATATATATATATATATATA TATTA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAD18_chr3_8872075_8968472	8967240	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0251 a0001c0001t0002g0251	1	348	0.0029	29	c.-38 others(40): Show c.-3856_-3855insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RAD18	ENSG00000070950.10	transcript	ENST00000264926.7	protein_coding		3769		chr3	TogoVar
RAD51B_chr14_67814779_68483093	67818085	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTGTTTGTTTGTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01261.hp2 HG01981.hp2 others(3): Show HG01192.hp2 HG01261.hp2 HG01981.hp2 NA18944.hp2 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0061 others(3): Show a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064	6	84	0.0714	29	c.-17 others(40): Show c.-1771_-1770insTTTTTTTTTTTGTTTGTTTGTTTTTTTTT	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding		1693		chr14	TogoVar
RAD51B_chr14_67814779_68483093	67818085	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTGTTTGTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG02258.hp1 HG03831.hp2 others(1): Show HG01123.hp1 HG02258.hp1 HG03831.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 others(1): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0002g0059	4	84	0.0476	29	c.-17 others(40): Show c.-1771_-1770insTTTTTTTTTTTGTTTGTTTTTTTTTTTTT	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding		1693		chr14	TogoVar
RAD51B_chr14_67814779_68483093	68331367	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	84	0.0119	29	c.853 others(48): Show c.853+39405_853+39406insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
RAD54L_chr1_46242763_46283473	46270491	C C	CACTGCTT others(22): Show CACTGCTTTGATACCTCTCTGATCTGTTAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA18983.hp2 NA18994.hp1 HG00280.hp2 NA18983.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0087 a0001c0001t0001g0024 a0001c0001t0001g0087	3	332	0.0090	29	c.104 others(46): Show c.1043-165_1043-137dupTGCTTTGATACCTCTCTGATCTGTTAAA C	RAD54L	ENSG00000085999.13	transcript	ENST00000371975.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RADIL_chr7_4792055_4888716	4808978	A A	AACGCCAC others(22): Show AACGCCACTGCCCCCCCGCGTCCCCTTCCG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp2 HG01884.hp1 others(5): Show HG01496.hp1 HG01496.hp2 HG01884.hp1 HG02630.hp1 HG02818.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2	a0006 a0018 a0019 others(1): Show a0006 a0018 a0019 a0032	a0006c0010 a0018c0059 a0019c0060 others(1): Show a0006c0010 a0018c0059 a0019c0060 a0032c0040	a0006c0010t0007 a0006c0010t0023 a0018c0059t0038 others(2): Show a0006c0010t0007 a0006c0010t0023 a0018c0059t0038 a0019c0060t0007 a0032c0040t0008	a0006c0010t0007g0016 a0006c0010t0007g0100 a0006c0010t0007g0101 others(5): Show a0006c0010t0007g0016 a0006c0010t0007g0100 a0006c0010t0007g0101 a0006c0010t0023g0124 a0006c0010t0023g0129 a0018c0059t0038g0109 a0019c0060t0007g0017 a0032c0040t0008g0106	8	292	0.0274	29	c.214 others(48): Show c.2140-3291_2140-3263dupCGGAAGGGGACGCGGGGGGGCAGTGG CGT	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	9/14			chr7	TogoVar
RAE1_chr20_57346255_57384202	57350851	G G	GGGGGACG others(22): Show GGGGGACGGGGGGACGGGGGGCGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0021 a0001c0005t0001g0021	1	342	0.0029	29	c.-57 others(38): Show c.-579_-578insGGGGACGGGGGGACGGGGGGCGGGGGGGC	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		403		chr20	TogoVar
RALGAPA1_chr14_35533356_35814295	35541040	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0156 a0001c0002t0001g0156	1	272	0.0037	29	c.24 others(46): Show c.24-1351_*24-1350insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	RALGAPA1	ENSG00000174373.17	transcript	ENST00000680220.1	protein_coding	41/41			chr14	TogoVar
RALGDS_chr9_133092722_133126240	133121163	C C	CGCAGCGG others(22): Show CGCAGCGGGGGCCGGGCCGCGGGACCCGGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02647.hp2 HG02895.hp1 HG02897.hp2 HG02647.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0029 a0001c0010t0005g0061 a0001c0010t0005g0029 a0001c0010t0005g0061	3	424	0.0071	29	c.-10 others(35): Show c.-10_-9insCCCGGGTCCCGCGGCCCGGCCCCCGCTGC	RALGDS	ENSG00000160271.16	transcript	ENST00000372050.8	protein_coding	1/18	10		chr9	TogoVar
RALGPS1_chr9_126909782_127228166	127188832	T T	TTAAAAAA others(22): Show TTAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0001 a0001c0001t0017g0001	1	276	0.0036	29	c.911 others(46): Show c.911-6259_911-6258insTAAAAAAAAAAAAAAAAAAAAAAAAAAA A	RALGPS1	ENSG00000136828.19	transcript	ENST00000259351.10	protein_coding	11/18			chr9	TogoVar
RALGPS2_chr1_178720244_178926840	178803456	A A	ATCCTAAA others(22): Show ATCCTAAAATATGACATCTTTATGTAGAAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02698.hp1 HG03669.hp2 HG00738.hp2 HG02698.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0039 a0001c0001t0012g0040 a0001c0001t0012g0041 a0001c0001t0012g0039 a0001c0001t0012g0040 a0001c0001t0012g0041	3	306	0.0098	29	c.214 others(46): Show c.214-4563_214-4562insAATTCCTAAAATATGACATCTTTATGTA G	RALGPS2	ENSG00000116191.19	transcript	ENST00000367635.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
RALYL_chr8_84178274_84926844	84478918	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01071.hp1 HG02280.hp1 others(4): Show HG00140.hp1 HG01071.hp1 HG02280.hp1 HG02896.hp2 HG02965.hp1 HG03579.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0076 others(4): Show a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0003g0030 a0001c0001t0007g0035 a0001c0001t0007g0036	7	82	0.0854	29	c.-23 others(48): Show c.-23-50381_-23-50380insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8			chr8	TogoVar
RANBP3_chr19_5911139_5983140	5937056	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG03195.hp2 NA18992.hp1 others(1): Show HG02129.hp2 HG03195.hp2 NA18992.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0114 others(1): Show a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0114 a0001c0001t0001g0160	4	322	0.0124	29	c.407 others(46): Show c.407-3578_407-3577insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	RANBP3	ENSG00000031823.14	transcript	ENST00000340578.10	protein_coding	5/16			chr19	TogoVar
RANBP9_chr6_13616498_13716835	13666600	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	360	0.0028	29	c.684 others(46): Show c.684-7769_684-7768insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	RANBP9	ENSG00000010017.13	transcript	ENST00000011619.6	protein_coding	2/13			chr6	TogoVar
RANBP9_chr6_13616498_13716835	13686100	T T	TCCCCCCC others(22): Show TCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	360	0.0028	29	c.683 others(48): Show c.683+10684_683+10685insGGGGGGGGGGGGGGGGGGGGGGGGGG GGG	RANBP9	ENSG00000010017.13	transcript	ENST00000011619.6	protein_coding	2/13			chr6	TogoVar
RANGAP1_chr22_41239779_41291187	41283923	C C	CAAGAAAC others(22): Show CAAGAAACGACCAGTTGAAATTGCATAAAA	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	354	0.0028	29	c.-39 others(46): Show c.-39+2034_-39+2062dupTTTTATGCAATTTCAACTGGTCGTTTCT T	RANGAP1	ENSG00000100401.21	transcript	ENST00000356244.8	protein_coding	1/15			chr22	TogoVar
RAP1GDS1_chr4_98256384_98448858	98438589	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02895.hp2 HG02970.hp1 HG02451.hp1 HG02895.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0195 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0195 a0001c0001t0003g0238 a0001c0001t0003g0239	3	242	0.0124	29	c.169 others(48): Show c.1696+1521_1696+1522insATATATATATATATATATATATATAT ATC	RAP1GDS1	ENSG00000138698.15	transcript	ENST00000408927.8	protein_coding	14/14			chr4	TogoVar
RAPGEF6_chr5_131418921_131640229	131528058	T T	TAATATAT others(22): Show TAATATATAAATTTATAATATATAAAATAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02630.hp2 HG02976.hp2 others(1): Show HG02486.hp1 HG02630.hp2 HG02976.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0279 others(1): Show a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0279 a0001c0001t0006g0272	4	324	0.0124	29	c.496 others(46): Show c.496-6538_496-6537insTTATTTTATATATTATAAATTTATATAT T	RAPGEF6	ENSG00000158987.22	transcript	ENST00000509018.6	protein_coding	6/27			chr5	TogoVar
RARS1_chr5_168481471_168524301	168518071	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	394	0.0025	29	c.187 others(44): Show c.1873+33_1873+34insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RARS1	ENSG00000113643.9	transcript	ENST00000231572.8	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr5	TogoVar

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