Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ASS1_chr9_130439961_130506274	130483758	T T	TCCTTTCC others(13): Show TCCTTTCCTCCTCCCTCTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(261): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0009	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0014 a0002c0004 a0003c0008 a0003c0015 a0004c0006 a0006c0013 a0009c0010	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0005t0001 a0001c0007t0001 a0001c0014t0001 a0002c0004t0001 a0003c0008t0001 a0003c0015t0001 a0004c0006t0001 a0006c0013t0001 a0009c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(247): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0345 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0003g0306 a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0009 a0001c0002t0001g0050 a0001c0002t0001g0074 a0001c0002t0001g0113 a0001c0002t0001g0121 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0170 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0316 a0001c0002t0002g0176 a0001c0003t0001g0209 a0001c0005t0001g0028 a0001c0005t0001g0213 a0001c0007t0001g0093 a0001c0007t0001g0260 a0001c0014t0001g0167 a0002c0004t0001g0012 a0002c0004t0001g0310 a0002c0004t0001g0311 a0002c0004t0001g0312 a0002c0004t0001g0353 a0003c0008t0001g0196 a0003c0015t0001g0205 a0004c0006t0001g0147 a0004c0006t0001g0148 a0006c0013t0001g0080 a0009c0010t0001g0216	264	374	0.7059	20	c.838 others(37): Show c.838+3343_838+3362dupCTCTCTCCCTTTCCTCCTCC	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ASTN1_chr1_176856067_177169712	176942866	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0094 a0002c0008t0003g0094	1	112	0.0089	20	c.237 others(39): Show c.2377+1024_2377+1025insAATATATATATATATATATA	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	14/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	177008479	G G	GAGGAAGA others(13): Show GAGGAAGAGAGAGAGGGAGAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG00642.hp1 others(57): Show HG00140.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01346.hp2 HG01978.hp2 HG01993.hp1 HG02055.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03579.hp1 HG03834.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18952.hp1 NA18981.hp2 NA19062.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0012 a0002c0004 a0002c0007 a0002c0011 a0002c0014 a0005c0013	a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 others(25): Show a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0011 a0001c0002t0014 a0001c0002t0015 a0001c0002t0020 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0003t0012 a0001c0003t0013 a0001c0003t0019 a0001c0005t0004 a0001c0005t0005 a0001c0006t0001 a0001c0006t0002 a0001c0006t0010 a0001c0012t0004 a0001c0012t0005 a0002c0004t0003 a0002c0007t0001 a0002c0007t0016 a0002c0011t0001 a0002c0011t0009 a0002c0014t0009 a0005c0013t0001	a0001c0001t0018g0054 a0001c0002t0001g0008 a0001c0002t0002g0047 others(57): Show a0001c0001t0018g0054 a0001c0002t0001g0008 a0001c0002t0002g0047 a0001c0002t0002g0108 a0001c0002t0007g0020 a0001c0002t0007g0069 a0001c0002t0007g0075 a0001c0002t0007g0082 a0001c0002t0011g0009 a0001c0002t0014g0004 a0001c0002t0015g0039 a0001c0002t0020g0007 a0001c0003t0001g0002 a0001c0003t0001g0034 a0001c0003t0001g0109 a0001c0003t0002g0018 a0001c0003t0002g0036 a0001c0003t0002g0064 a0001c0003t0002g0067 a0001c0003t0002g0074 a0001c0003t0002g0079 a0001c0003t0002g0081 a0001c0003t0002g0100 a0001c0003t0008g0062 a0001c0003t0008g0091 a0001c0003t0008g0104 a0001c0003t0012g0087 a0001c0003t0013g0096 a0001c0003t0019g0073 a0001c0005t0004g0076 a0001c0005t0004g0077 a0001c0005t0005g0059 a0001c0005t0005g0102 a0001c0006t0001g0063 a0001c0006t0002g0037 a0001c0006t0010g0027 a0001c0012t0004g0010 a0001c0012t0005g0045 a0002c0004t0003g0042 a0002c0004t0003g0057 a0002c0004t0003g0060 a0002c0004t0003g0061 a0002c0004t0003g0065 a0002c0004t0003g0089 a0002c0004t0003g0090 a0002c0004t0003g0092 a0002c0004t0003g0093 a0002c0004t0003g0095 a0002c0004t0003g0097 a0002c0004t0003g0103 a0002c0007t0001g0011 a0002c0007t0001g0046 a0002c0007t0001g0071 a0002c0007t0001g0105 a0002c0007t0016g0066 a0002c0011t0001g0015 a0002c0011t0009g0003 a0002c0011t0009g0040 a0002c0014t0009g0078 a0005c0013t0001g0001	60	112	0.5357	20	c.152 others(39): Show c.1523+6292_1523+6311dupGTCTCCCTCTCTCTCTTCCT	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	8/22			chr1	TogoVar
ASTN2_chr9_116418112_117420057	116462787	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0008 a0001c0001t0008g0008	1	102	0.0098	20	c.349 others(41): Show c.3498-20235_3498-20234insACACACACACACACACACAC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	20/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116490272	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0043 a0001c0002t0004g0043	1	102	0.0098	20	c.335 others(39): Show c.3356-2792_3356-2773dupTTTTTTTTTTTTTTTTTTTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116565387	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA19012.hp2 HG02004.hp1 NA19012.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0010 a0001c0002t0003 a0001c0002t0010	a0001c0002t0003g0094 a0001c0002t0010g0064 a0001c0002t0003g0094 a0001c0002t0010g0064	2	102	0.0196	20	c.335 others(41): Show c.3355+52936_3355+52937insTATAGAGAGAGAGAGAGAGA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116565387	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0074 a0001c0003t0007g0074	1	102	0.0098	20	c.335 others(41): Show c.3355+52936_3355+52937insTAGAGAGAGAGAGAGAGAGA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116586812	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0074 a0001c0003t0007g0074	1	102	0.0098	20	c.335 others(41): Show c.3355+31511_3355+31512insTGTGTGTGTGTGTGTGTGTG	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116586825	C C	CACACACA others(13): Show CACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	102	0.0098	20	c.335 others(41): Show c.3355+31498_3355+31499insATGTGTGTGTGTGTGTGTGT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116632252	G G	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	102	0.0098	20	c.307 others(41): Show c.3073-11829_3073-11810dupTTTCTTTCTTTCTTTCTTTC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	17/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116642132	C C	CCAAAAAA others(13): Show CCAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	102	0.0098	20	c.307 others(39): Show c.3072+9395_3072+9396insTTTTTTTTTTTTTTTTTTTG	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	17/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116718972	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0061 a0001c0002t0002g0061	1	102	0.0098	20	c.280 others(39): Show c.2806+6798_2806+6799insTATATATATATATATATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	16/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116718972	G G	GTGTGTGT others(13): Show GTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18906.hp2 NA20300.hp1 HG01891.hp1 NA18906.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0012 a0002c0004 a0001c0001 a0001c0012 a0002c0004	a0001c0001t0016 a0001c0012t0001 a0002c0004t0005 a0001c0001t0016 a0001c0012t0001 a0002c0004t0005	a0001c0001t0016g0075 a0001c0012t0001g0098 a0002c0004t0005g0006 a0001c0001t0016g0075 a0001c0012t0001g0098 a0002c0004t0005g0006	3	102	0.0294	20	c.280 others(39): Show c.2806+6798_2806+6799insTATATATATATACACACACA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	16/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116790929	T T	TGAAAGAA others(13): Show TGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0001 a0006c0020t0001	a0006c0020t0001g0039 a0006c0020t0001g0039	1	102	0.0098	20	c.239 others(41): Show c.2396+14683_2396+14702dupTTTCTTTCTTTCTTTCTTTC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116816896	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG01169.hp1 others(15): Show HG00099.hp1 HG00099.hp2 HG01169.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG02004.hp1 HG03017.hp1 HG03017.hp2 HG03540.hp1 NA18906.hp1 NA20752.hp1 NA20752.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0023 a0001c0025 a0004c0024 a0007c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0010 a0001c0003t0003 a0001c0003t0006 a0001c0003t0014 a0001c0008t0005 a0001c0023t0002 a0001c0025t0001 a0004c0024t0013 a0007c0018t0003	a0001c0001t0001g0034 a0001c0001t0001g0054 a0001c0001t0003g0063 others(15): Show a0001c0001t0001g0034 a0001c0001t0001g0054 a0001c0001t0003g0063 a0001c0001t0016g0075 a0001c0002t0001g0067 a0001c0002t0001g0093 a0001c0002t0003g0066 a0001c0002t0004g0029 a0001c0002t0004g0062 a0001c0002t0010g0064 a0001c0003t0003g0030 a0001c0003t0006g0017 a0001c0003t0014g0083 a0001c0008t0005g0073 a0001c0023t0002g0069 a0001c0025t0001g0080 a0004c0024t0013g0101 a0007c0018t0003g0031	18	102	0.1765	20	c.220 others(39): Show c.2207+3701_2207+3720dupATTTATTTATTTATTTATTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	12/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116832940	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp1 HG01169.hp2 others(21): Show HG00639.hp1 HG01109.hp1 HG01169.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01884.hp2 HG01934.hp1 HG02004.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02896.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03471.hp1 HG03540.hp2 NA18906.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0008 a0001c0010 a0001c0011 a0001c0012 a0001c0025 a0002c0004	a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 others(17): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0003t0005 a0001c0003t0007 a0001c0003t0010 a0001c0005t0005 a0001c0006t0002 a0001c0008t0005 a0001c0010t0004 a0001c0011t0004 a0001c0012t0001 a0001c0025t0001 a0002c0004t0002	a0001c0001t0005g0077 a0001c0001t0005g0096 a0001c0001t0006g0079 others(21): Show a0001c0001t0005g0077 a0001c0001t0005g0096 a0001c0001t0006g0079 a0001c0001t0007g0078 a0001c0001t0007g0087 a0001c0001t0015g0045 a0001c0002t0001g0036 a0001c0002t0002g0023 a0001c0002t0002g0053 a0001c0002t0003g0094 a0001c0002t0004g0091 a0001c0002t0004g0092 a0001c0003t0001g0055 a0001c0003t0005g0082 a0001c0003t0007g0074 a0001c0003t0010g0052 a0001c0005t0005g0076 a0001c0006t0002g0012 a0001c0008t0005g0081 a0001c0010t0004g0009 a0001c0011t0004g0097 a0001c0012t0001g0098 a0001c0025t0001g0080 a0002c0004t0002g0005	24	102	0.2353	20	c.204 others(41): Show c.2041-12177_2041-12158dupTAAATAAATAAATAAATAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	11/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117003530	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp2 NA20300.hp2 HG01891.hp1 HG02572.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0011 a0001c0001 a0001c0009 a0001c0011	a0001c0001t0016 a0001c0009t0008 a0001c0011t0004 a0001c0001t0016 a0001c0009t0008 a0001c0011t0004	a0001c0001t0016g0075 a0001c0009t0008g0088 a0001c0011t0004g0097 a0001c0001t0016g0075 a0001c0009t0008g0088 a0001c0011t0004g0097	3	102	0.0294	20	c.159 others(39): Show c.1591+4542_1591+4561dupACACACACACACACACACAC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	7/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117003951	C C	CGTGCGCG others(13): Show CGTGCGCGCGCGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0071 a0001c0003t0007g0071	1	102	0.0098	20	c.159 others(39): Show c.1591+4140_1591+4141insACACACACACGCGCGCGCAC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	7/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117003953	C C	CGCGCGCG others(13): Show CGCGCGCGCGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	102	0.0098	20	c.159 others(39): Show c.1591+4138_1591+4139insACACACACACACGCGCGCGC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	7/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117045975	T T	TGTACGTA others(13): Show TGTACGTACGTACGTACGTAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG01099.hp1 others(7): Show HG00099.hp2 HG00639.hp2 HG01099.hp1 HG01243.hp1 NA19010.hp1 NA19012.hp1 NA19043.hp1 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0009 others(1): Show a0001c0002 a0001c0005 a0001c0009 a0001c0017	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0005t0005 a0001c0009t0008 a0001c0017t0002	a0001c0002t0001g0042 a0001c0002t0001g0057 a0001c0002t0001g0093 others(7): Show a0001c0002t0001g0042 a0001c0002t0001g0057 a0001c0002t0001g0093 a0001c0002t0002g0061 a0001c0002t0004g0043 a0001c0002t0004g0047 a0001c0002t0004g0062 a0001c0005t0005g0007 a0001c0009t0008g0088 a0001c0017t0002g0089	10	102	0.0980	20	c.127 others(39): Show c.1277-6011_1277-6010insGTACGTACGTACGTACGTAC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117060585	C C	CAGGCAGG others(13): Show CAGGCAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0017 a0001c0014t0017	a0001c0014t0017g0050 a0001c0014t0017g0050	1	102	0.0098	20	c.127 others(41): Show c.1277-20621_1277-20620insTCCTTCCTTCCTTCCTGCCT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117060585	C C	CAGGCAGG others(13): Show CAGGCAGGCAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03017.hp2 NA19011.hp2 others(1): Show HG00099.hp1 HG03017.hp2 NA19011.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0022 others(1): Show a0001c0001 a0001c0002 a0001c0022 a0001c0023	a0001c0001t0003 a0001c0002t0002 a0001c0022t0001 others(1): Show a0001c0001t0003 a0001c0002t0002 a0001c0022t0001 a0001c0023t0002	a0001c0001t0003g0063 a0001c0002t0002g0059 a0001c0022t0001g0020 others(1): Show a0001c0001t0003g0063 a0001c0002t0002g0059 a0001c0022t0001g0020 a0001c0023t0002g0069	4	102	0.0392	20	c.127 others(41): Show c.1277-20621_1277-20620insTCCTTCCTTCCTGCCTGCCT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117108438	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0021 a0001c0002t0003g0021	1	102	0.0098	20	c.116 others(41): Show c.1169-12307_1169-12288dupGTGTGTGTGTGTGTGTGTGT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	4/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117116037	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02559.hp2 HG03239.hp1 others(1): Show HG01258.hp2 HG02559.hp2 HG03239.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0001 a0001c0002t0008 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0008 a0001c0003t0003	a0001c0001t0002g0070 a0001c0002t0001g0067 a0001c0002t0008g0024 others(1): Show a0001c0001t0002g0070 a0001c0002t0001g0067 a0001c0002t0008g0024 a0001c0003t0003g0030	4	102	0.0392	20	c.116 others(41): Show c.1169-19887_1169-19886insATATATATATATATATATAT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	4/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117120018	G G	GTATGTAT others(13): Show GTATGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0063 a0001c0001t0003g0063	1	102	0.0098	20	c.116 others(41): Show c.1168+21307_1168+21308insTATATATATATATATACATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	4/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117120018	G G	GTGTGTAT others(13): Show GTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA21309.hp2 NA19011.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0005t0005 a0001c0002t0002 a0001c0005t0005	a0001c0002t0002g0059 a0001c0005t0005g0048 a0001c0002t0002g0059 a0001c0005t0005g0048	2	102	0.0196	20	c.116 others(41): Show c.1168+21307_1168+21308insTATATATATATATATACACA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	4/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117120049	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0082 a0001c0003t0005g0082	1	102	0.0098	20	c.116 others(41): Show c.1168+21276_1168+21277insGTATATATATATATATATAT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	4/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117225535	G G	GTATGTAT others(13): Show GTATGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03017.hp1 HG03041.hp2 HG01884.hp1 HG03017.hp1 HG03041.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0024 a0001c0001 a0004c0024	a0001c0001t0006 a0001c0001t0011 a0004c0024t0013 a0001c0001t0006 a0001c0001t0011 a0004c0024t0013	a0001c0001t0006g0014 a0001c0001t0011g0002 a0004c0024t0013g0101 a0001c0001t0006g0014 a0001c0001t0011g0002 a0004c0024t0013g0101	3	102	0.0294	20	c.631 others(39): Show c.631-10794_631-10793insTATATATATATATATACATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	2/22			chr9	TogoVar
ASXL1_chr20_32353331_32444319	32377972	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG00642.hp2 others(37): Show HG00140.hp2 HG00639.hp2 HG00642.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01257.hp2 HG01258.hp1 HG01516.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG02004.hp1 HG02129.hp1 HG02135.hp2 HG02165.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp1 HG03139.hp1 HG03540.hp1 HG03942.hp2 HG04199.hp2 NA18747.hp2 NA18940.hp1 NA18950.hp1 NA18953.hp2 NA18954.hp1 NA18967.hp1 NA18968.hp1 NA18981.hp2 NA18989.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19054.hp1 NA19065.hp2 NA19082.hp1 NA19088.hp2 NA20805.hp2	a0001 a0003 a0013 a0001 a0003 a0013	a0001c0002 a0003c0004 a0013c0015 a0001c0002 a0003c0004 a0013c0015	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0003c0004t0003 a0013c0015t0002	a0001c0002t0001g0241 a0001c0002t0002g0023 a0001c0002t0002g0025 others(37): Show a0001c0002t0001g0241 a0001c0002t0002g0023 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0240 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0258 a0001c0002t0002g0264 a0001c0002t0002g0269 a0001c0002t0002g0276 a0001c0002t0005g0227 a0001c0002t0005g0257 a0001c0002t0005g0259 a0003c0004t0003g0098 a0013c0015t0002g0268	40	282	0.1418	20	c.252 others(37): Show c.252+8861_252+8880dupGTGTGTGTGTGTGTGTGTGT	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASXL1_chr20_32353331_32444319	32378158	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02895.hp1 HG02486.hp2 HG02895.hp1	a0001 a0001	a0001c0005 a0001c0008 a0001c0005 a0001c0008	a0001c0005t0001 a0001c0008t0001 a0001c0005t0001 a0001c0008t0001	a0001c0005t0001g0186 a0001c0008t0001g0053 a0001c0005t0001g0186 a0001c0008t0001g0053	2	282	0.0071	20	c.252 others(37): Show c.252+9053_252+9072dupGTGTGTGTGTGTGTGTGTGT	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASXL2_chr2_25728753_25883487	25807986	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02257.hp2 HG02559.hp1 others(3): Show HG01243.hp1 HG02257.hp2 HG02559.hp1 HG02602.hp2 HG03139.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 others(3): Show a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0019g0219	6	222	0.0270	20	c.144 others(37): Show c.144-1669_144-1650dupGTGTGTGTGTGTGTGTGTGT	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	3/12			chr2	TogoVar
ASXL2_chr2_25728753_25883487	25849064	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03486.hp2 HG03225.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0138 a0001c0001t0001g0139	2	222	0.0090	20	c.58- others(35): Show c.58-3502_58-3501insATATATATATATATATATAT	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	1/12			chr2	TogoVar
ASXL3_chr18_33573219_33756195	33590111	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18994.hp2 HG04204.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0004 a0001c0020t0001 a0001c0001t0004 a0001c0020t0001	a0001c0001t0004g0167 a0001c0020t0001g0155 a0001c0001t0004g0167 a0001c0020t0001g0155	2	220	0.0091	20	c.54+ others(37): Show c.54+11445_54+11446insTTTTTTTTTTTTTTTTTTTT	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33652603	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0168 a0002c0002t0005g0168	1	220	0.0046	20	c.355 others(37): Show c.355+6263_355+6264insAAAAAAAAAAAAAAAAAAAA	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33676222	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	220	0.0046	20	c.715 others(37): Show c.715+4362_715+4381dupAAAAAAAAAAAAAAAAAAAA	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ASZ1_chr7_117358222_117432493	117379168	T T	TATATATA others(13): Show TATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0125 a0001c0001t0003g0125	1	306	0.0033	20	c.105 others(37): Show c.1055+769_1055+770insGTGTGTGTGTGTGTATATAT	ASZ1	ENSG00000154438.8	transcript	ENST00000284629.7	protein_coding	10/12			chr7	TogoVar
ATAD1_chr10_87746512_87823226	87811334	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01175.hp2 HG01884.hp2 others(1): Show HG00738.hp2 HG01175.hp2 HG01884.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0114 a0001c0001t0003g0066 a0001c0001t0003g0067 others(1): Show a0001c0001t0002g0114 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0319	4	360	0.0111	20	c.162 others(37): Show c.162+3084_162+3103dupATTTATTTATTTATTTATTT	ATAD1	ENSG00000138138.14	transcript	ENST00000680024.1	protein_coding	2/9			chr10	TogoVar
ATAD2B_chr2_23743664_23932123	23745368	A A	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01255.hp1 HG03540.hp1 others(3): Show HG00099.hp2 HG01255.hp1 HG03540.hp1 NA18952.hp1 NA18979.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0207 others(3): Show a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0207 a0001c0001t0002g0024 a0001c0001t0002g0045 a0001c0001t0002g0048	6	246	0.0244	20	c.66 others(31): Show c.6677_*6678insCTTCCTTCCTTCCTTCCTTC	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding		3295		chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23745422	A A	AAAGGGAA others(13): Show AAAGGGAAGGGAAGGGAAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01433.hp1 HG01257.hp2 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0012 a0001c0002t0003 a0001c0002t0012	a0001c0002t0003g0240 a0001c0002t0012g0233 a0001c0002t0003g0240 a0001c0002t0012g0233	2	246	0.0081	20	c.66 others(31): Show c.6623_*6624insCCCTTCCCTTCCCTTCCCTT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding		3241		chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23878024	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0099 a0001c0001t0005g0099	1	246	0.0041	20	c.902 others(37): Show c.902-2121_902-2120insCTTTTTTTTTTTTTTTTTTT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	7/27			chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23878025	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA19003.hp2 NA19006.hp2 NA18612.hp1 NA19003.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0058 a0001c0001t0005g0091 a0001c0001t0005g0092 a0001c0001t0005g0058 a0001c0001t0005g0091 a0001c0001t0005g0092	3	246	0.0122	20	c.902 others(37): Show c.902-2122_902-2121insCTTTTTTTTTTTTTTTTTTT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	7/27			chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23878025	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	246	0.0041	20	c.902 others(37): Show c.902-2122_902-2121insCTTTTTCTTTTTTTTTTTTT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	7/27			chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23878025	A A	AAAAAGAA others(13): Show AAAAAGAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	246	0.0041	20	c.902 others(37): Show c.902-2122_902-2121insCTTTTTTTTTTTTTTCTTTT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	7/27			chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23903237	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02135.hp1 HG02165.hp1 others(7): Show HG02080.hp2 HG02135.hp1 HG02165.hp1 HG03490.hp1 HG03492.hp1 HG03688.hp2 HG03834.hp1 NA18986.hp2 NA19086.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0002t0007 a0001c0001t0003 a0001c0002t0003 a0001c0002t0007	a0001c0001t0003g0007 a0001c0002t0003g0229 a0001c0002t0003g0230 others(7): Show a0001c0001t0003g0007 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0235 a0001c0002t0003g0236 a0001c0002t0003g0239 a0001c0002t0003g0241 a0001c0002t0003g0242 a0001c0002t0007g0243 a0001c0002t0007g0244	10	246	0.0407	20	c.217 others(37): Show c.217-7287_217-7268dupATTTATTTATTTATTTATTT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	1/27			chr2	TogoVar
ATAD2_chr8_123314850_123401447	123377091	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03540.hp1 HG02280.hp1 HG03540.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0003 a0002c0004t0001 a0002c0004t0003	a0002c0004t0001g0131 a0002c0004t0003g0009 a0002c0004t0001g0131 a0002c0004t0003g0009	2	278	0.0072	20	c.320 others(37): Show c.320+3418_320+3437dupTTTTTTTTTTTTTTTTTTTT	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	2/27			chr8	TogoVar
ATAD2_chr8_123314850_123401447	123381498	C C	CACAAAAC others(13): Show CACAAAACAAAACAAAACAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02647.hp2 HG01243.hp1 HG02647.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0251 a0002c0003t0001g0255 a0002c0003t0001g0251 a0002c0003t0001g0255	2	278	0.0072	20	c.172 others(35): Show c.172-841_172-822dupTTTGTTTTGTTTTGTTTTGT	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	1/27			chr8	TogoVar
ATAD3B_chr1_1466765_1502848	1469099	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG03540.hp2 HG02615.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0061 a0002c0002t0002g0062	2	276	0.0073	20	c.-27 others(31): Show c.-2786_-2785insAAAAAAAAAAAAAAAAAAAA	ATAD3B	ENSG00000160072.20	transcript	ENST00000673477.1	protein_coding		2665		chr1	TogoVar
ATAD3C_chr1_1444689_1475163	1469099	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp2 HG03540.hp1 NA18940.hp2 HG02615.hp2 HG03540.hp1 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0023 a0001c0040 a0001c0001 a0001c0023 a0001c0040	a0001c0001t0138 a0001c0023t0073 a0001c0040t0153 a0001c0001t0138 a0001c0023t0073 a0001c0040t0153	a0001c0001t0138g0032 a0001c0023t0073g0208 a0001c0040t0153g0266 a0001c0001t0138g0032 a0001c0023t0073g0208 a0001c0040t0153g0266	3	410	0.0073	20	c.58 others(29): Show c.587_*606dupAAAAAAAAAAAAAAAAAAAA	ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding	12/12	607	INFO_REALIGN_3_PRIME	chr1	TogoVar
ATAD5_chr17_30826966_30900869	30874607	C C	CTATTTAT others(13): Show CTATTTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03041.hp2 HG02965.hp2 HG03041.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0099 a0003c0003t0004g0101 a0003c0003t0004g0099 a0003c0003t0004g0101	2	286	0.0070	20	c.360 others(39): Show c.3608-1745_3608-1726dupATTTATTTATTTATTTATTT	ATAD5	ENSG00000176208.9	transcript	ENST00000321990.5	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
ATAT1_chr6_30621874_30651821	30641106	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18980.hp1 NA18939.hp2 NA18980.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0058 a0001c0002t0001g0062 a0001c0002t0001g0058 a0001c0002t0001g0062	2	405	0.0049	20	c.652 others(35): Show c.652+504_652+505insCACACACACACACACACACA	ATAT1	ENSG00000137343.18	transcript	ENST00000376485.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar

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