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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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
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0084 a0003c0003t0001g0084	1	404	0.0025	49	c.483 others(66): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23750067	T T	TCCCCCCC others(42): Show TCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0152 a0003c0003t0001g0152	1	404	0.0025	49	c.101 others(68): Show c.1018-2642_1018-2641insCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCC	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK38L_chr12_27239286_27330959	27240998	C C	CTATGTAT others(42): Show CTATGTATAGTTGTATAGTTATATATATTACATATATCACTATGTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0041 a0001c0001t0015g0041	1	374	0.0027	49	c.-33 others(60): Show c.-3346_-3345insTATGTATAGTTGTATAGTTATATATATTACATAT ATCACTATGTATAGT	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		3287		chr12	TogoVar
STK39_chr2_167949022_168252595	167950975	T T	TTCTAGTG others(42): Show TTCTAGTGCTATGAAGTTTCATAAATTAAAATTGTCGCAACTTGCTTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0087 a0002c0002t0002g0087	1	270	0.0037	49	c.45 others(60): Show c.4520_*4521insGAGAAGCAAGTTGCGACAATTTTAATTTATGAAA CTTCATAGCACTAGA	STK39	ENSG00000198648.12	transcript	ENST00000355999.5	protein_coding		3046		chr2	TogoVar
STOML3_chr13_38960925_38995831	38988193	A A	AATATATT others(42): Show AATATATTTTATATCATATATTTTATAAATAATATATTATATTTTATATC	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18747.hp1 NA18975.hp2 others(3): Show HG02698.hp1 NA18747.hp1 NA18975.hp2 NA19003.hp2 NA19057.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0014 a0001c0001t0001g0059 a0001c0001t0001g0069 others(2): Show a0001c0001t0001g0014 a0001c0001t0001g0059 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0002g0060	6	396	0.0152	49	c.52+ others(64): Show c.52+2476_52+2477insGATATAAAATATAATATATTATTTATAAAA TATATGATATAAAATATAT	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988194	T T	TTATATTT others(42): Show TTATATTTTATATCATATATTTTATATATAATATATTATATTTTATATCA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03098.hp2 HG03471.hp1 HG02615.hp1 HG03098.hp2 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0046 a0001c0001t0004g0047 a0002c0002t0001g0048 a0001c0001t0004g0046 a0001c0001t0004g0047 a0002c0002t0001g0048	3	396	0.0076	49	c.52+ others(64): Show c.52+2475_52+2476insTGATATAAAATATAATATATTATATATAAA ATATATGATATAAAATATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988320	T T	TGATATTT others(42): Show TGATATTTTATATCATATATTTTATATAAAATATATGATATTTTATATCA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0244 a0002c0002t0008g0244	1	396	0.0025	49	c.52+ others(64): Show c.52+2349_52+2350insTGATATAAAATATCATATATTTTATATAAA ATATATGATATAAAATATC	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988320	T T	TGATATTT others(42): Show TGATATTTTATATCATATATTTTATATAAAATGTATGATATTTTATATCA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0241 a0001c0001t0001g0242	2	396	0.0051	49	c.52+ others(64): Show c.52+2349_52+2350insTGATATAAAATATCATACATTTTATATAAA ATATATGATATAAAATATC	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988320	T T	TTATATTT others(42): Show TTATATTTTATATCATATATTTTATATATAATATATTATATTTTATATCA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0050 a0001c0001t0004g0050	1	396	0.0025	49	c.52+ others(64): Show c.52+2349_52+2350insTGATATAAAATATAATATATTATATATAAA ATATATGATATAAAATATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988444	T T	TTATATTT others(42): Show TTATATTTTATATCATATATTTTATATATAATATATTATATTTTATATCA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	396	0.0025	49	c.52+ others(64): Show c.52+2225_52+2226insTGATATAAAATATAATATATTATATATAAA ATATATGATATAAAATATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STON1_chr2_48525154_48603513	48555327	C C	CCCCCCAC others(42): Show CCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCGGGGGGCTGACG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00408.hp1 others(219): Show HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18969.hp1 NA18970.hp2 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18990.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0011 a0012 a0013 a0017	a0001c0001 a0001c0003 a0001c0008 others(15): Show a0001c0001 a0001c0003 a0001c0008 a0001c0016 a0001c0019 a0002c0002 a0003c0004 a0004c0007 a0004c0009 a0004c0010 a0005c0006 a0006c0011 a0008c0017 a0009c0015 a0011c0018 a0012c0013 a0013c0021 a0017c0023	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(37): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0026 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0007 a0001c0003t0008 a0001c0003t0012 a0001c0003t0013 a0001c0003t0014 a0001c0003t0017 a0001c0003t0025 a0001c0003t0031 a0001c0003t0033 a0001c0003t0035 a0001c0008t0004 a0001c0008t0014 a0001c0016t0005 a0001c0019t0005 a0002c0002t0001 a0003c0004t0004 a0004c0007t0001 a0004c0007t0012 a0004c0009t0003 a0004c0010t0004 a0005c0006t0011 a0006c0011t0012 a0008c0017t0003 a0009c0015t0001 a0011c0018t0001 a0012c0013t0028 a0013c0021t0001 a0017c0023t0001	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0011 others(219): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0198 a0001c0001t0001g0207 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0286 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0308 a0001c0001t0001g0332 a0001c0001t0001g0338 a0001c0001t0001g0348 a0001c0001t0001g0352 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0370 a0001c0001t0003g0021 a0001c0001t0003g0050 a0001c0001t0003g0059 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0090 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0107 a0001c0001t0003g0110 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0168 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0240 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0345 a0001c0001t0003g0353 a0001c0001t0004g0188 a0001c0001t0004g0191 a0001c0001t0004g0306 a0001c0001t0004g0307 a0001c0001t0006g0343 a0001c0001t0006g0344 a0001c0001t0006g0349 a0001c0001t0006g0350 a0001c0001t0006g0351 a0001c0001t0006g0356 a0001c0001t0006g0361 a0001c0001t0006g0371 a0001c0001t0010g0264 a0001c0001t0010g0268 a0001c0001t0010g0285 a0001c0001t0010g0303 a0001c0001t0010g0336 a0001c0001t0015g0337 a0001c0001t0015g0373 a0001c0001t0016g0025 a0001c0001t0016g0091 a0001c0001t0018g0154 a0001c0001t0026g0256 a0001c0003t0001g0041 a0001c0003t0001g0057 a0001c0003t0001g0111 a0001c0003t0001g0184 a0001c0003t0001g0204 a0001c0003t0001g0271 a0001c0003t0001g0293 a0001c0003t0001g0294 a0001c0003t0001g0310 a0001c0003t0001g0311 a0001c0003t0002g0004 a0001c0003t0002g0037 a0001c0003t0002g0039 a0001c0003t0002g0040 a0001c0003t0002g0042 a0001c0003t0002g0043 a0001c0003t0002g0044 a0001c0003t0002g0045 a0001c0003t0002g0046 a0001c0003t0002g0095 a0001c0003t0002g0103 a0001c0003t0002g0106 a0001c0003t0002g0108 a0001c0003t0002g0122 a0001c0003t0002g0141 a0001c0003t0002g0151 a0001c0003t0002g0175 a0001c0003t0002g0183 a0001c0003t0002g0205 a0001c0003t0002g0206 a0001c0003t0002g0210 a0001c0003t0002g0239 a0001c0003t0002g0272 a0001c0003t0002g0273 a0001c0003t0002g0299 a0001c0003t0005g0274 a0001c0003t0005g0280 a0001c0003t0005g0287 a0001c0003t0005g0288 a0001c0003t0005g0298 a0001c0003t0005g0300 a0001c0003t0007g0056 a0001c0003t0007g0062 a0001c0003t0007g0092 a0001c0003t0007g0112 a0001c0003t0007g0157 a0001c0003t0007g0231 a0001c0003t0008g0135 a0001c0003t0008g0162 a0001c0003t0008g0164 a0001c0003t0008g0165 a0001c0003t0012g0269 a0001c0003t0013g0329 a0001c0003t0013g0331 a0001c0003t0014g0136 a0001c0003t0017g0281 a0001c0003t0017g0289 a0001c0003t0025g0109 a0001c0003t0031g0363 a0001c0003t0033g0180 a0001c0003t0035g0027 a0001c0008t0004g0368 a0001c0008t0004g0369 a0001c0008t0014g0372 a0001c0016t0005g0195 a0001c0019t0005g0279 a0002c0002t0001g0226 a0003c0004t0004g0237 a0003c0004t0004g0313 a0003c0004t0004g0314 a0003c0004t0004g0315 a0003c0004t0004g0316 a0003c0004t0004g0317 a0003c0004t0004g0318 a0003c0004t0004g0319 a0003c0004t0004g0320 a0003c0004t0004g0321 a0003c0004t0004g0323 a0003c0004t0004g0324 a0003c0004t0004g0325 a0003c0004t0004g0326 a0003c0004t0004g0327 a0003c0004t0004g0328 a0003c0004t0004g0330 a0003c0004t0004g0366 a0004c0007t0001g0265 a0004c0007t0001g0267 a0004c0007t0012g0266 a0004c0009t0003g0048 a0004c0009t0003g0063 a0004c0010t0004g0238 a0004c0010t0004g0244 a0005c0006t0011g0211 a0005c0006t0011g0212 a0005c0006t0011g0301 a0005c0006t0011g0304 a0005c0006t0011g0335 a0006c0011t0012g0193 a0006c0011t0012g0270 a0008c0017t0003g0105 a0009c0015t0001g0305 a0011c0018t0001g0174 a0012c0013t0028g0376 a0013c0021t0001g0038 a0017c0023t0001g0249	222	376	0.5904	49	c.-48 others(68): Show c.-48+25130_-48+25131insCGGGGCTGCTGGCCGGGCGGGGGGCT GACGCCCCCACCTCCCTCCCGGA	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48555327	C C	CCCCCCAC others(42): Show CCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCGGGGGGCTGATG	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA19030.hp1 HG03453.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0179 a0001c0003t0002g0185 a0001c0003t0002g0179 a0001c0003t0002g0185	2	376	0.0053	49	c.-48 others(68): Show c.-48+25130_-48+25131insCGGGGCTGCTGGCCGGGCGGGGGGCT GATGCCCCCACCTCCCTCCCGGA	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STXBP3_chr1_108741674_108814523	108771655	T T	TATATATA others(42): Show TATATATATAATATATAAATATGATATATATCTATATATATCATATATAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01081.hp2 HG01192.hp2 others(6): Show HG00140.hp1 HG01081.hp2 HG01192.hp2 HG01243.hp2 HG01346.hp1 HG02300.hp1 HG02738.hp1 HG04115.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 others(6): Show a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193	9	334	0.0270	49	c.439 others(66): Show c.439-1002_439-1001insAATATATAAATATGATATATATCTATAT ATATCATATATAAATATATAT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP3_chr1_108741674_108814523	108771719	T T	TATATAAA others(42): Show TATATAAATATATATGATATATATCTATATATCATATATAAATATATATG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp1 HG00741.hp1 others(15): Show HG00280.hp2 HG00735.hp1 HG00741.hp1 HG01516.hp1 HG01891.hp2 HG02074.hp2 HG02109.hp1 HG02257.hp1 HG02451.hp1 HG02886.hp1 HG03130.hp2 HG03139.hp2 HG03239.hp1 HG03486.hp1 NA18952.hp1 NA18998.hp2 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0161 a0001c0001t0001g0164 others(12): Show a0001c0001t0001g0002 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0195	18	334	0.0539	49	c.439 others(64): Show c.439-944_439-943insATAAATATATATGATATATATCTATATATC ATATATAAATATATATGAT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP3_chr1_108741674_108814523	108771727	T T	TATATATA others(42): Show TATATATATAATATATAAATATGATATATATCTATATATATCATATATAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	334	0.0030	49	c.439 others(64): Show c.439-930_439-929insAATATATAAATATGATATATATCTATATAT ATCATATATAAATATATAT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
SUCLG2_chr3_67369719_67659612	67444499	C C	CGGGAGGG others(42): Show CGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00621.hp2 others(19): Show HG00544.hp2 HG00597.hp1 HG00621.hp2 HG01258.hp2 HG01981.hp2 HG01993.hp1 HG02300.hp1 NA18942.hp1 NA18951.hp2 NA18962.hp2 NA18963.hp1 NA18969.hp2 NA18975.hp2 NA18980.hp2 NA18993.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp2 NA19070.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0015	a0001c0001t0001g0045 a0001c0001t0001g0124 a0001c0001t0001g0125 others(19): Show a0001c0001t0001g0045 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0183 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0243 a0001c0001t0002g0039 a0001c0001t0002g0100 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0208 a0001c0001t0003g0093 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0201 a0001c0001t0006g0035 a0001c0001t0006g0209 a0001c0001t0015g0028	22	280	0.0786	49	c.106 others(70): Show c.1063-43649_1063-43648insAGACGGGGCGGCTGGCCGGGTGGG GGGCTGACCCCCCCACCTCCCTCCC	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUPT6H_chr17_28657205_28707679	28663828	A A	ATTTTTTT others(42): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	236	0.0042	49	c.-32 others(66): Show c.-32+1503_-32+1504insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTT	SUPT6H	ENSG00000109111.15	transcript	ENST00000314616.11	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr17	TogoVar
SV2C_chr5_76078383_76338956	76172289	G G	GGGGGGGT others(42): Show GGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0076 a0001c0009t0076	a0001c0009t0076g0213 a0001c0009t0076g0213	1	234	0.0043	49	c.581 others(68): Show c.581-22624_581-22623insTCGGCCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGG	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SV2C_chr5_76078383_76338956	76172388	T T	TGCCCGGC others(42): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp2 HG00735.hp1 others(48): Show HG00423.hp1 HG00642.hp2 HG00735.hp1 HG01884.hp1 HG01928.hp1 HG01981.hp1 HG02083.hp1 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03704.hp1 HG04184.hp1 HG04228.hp2 NA18955.hp2 NA18981.hp1 NA18990.hp1 NA18992.hp1 NA19001.hp2 NA19005.hp2 NA19007.hp1 NA19011.hp1 NA19043.hp2 NA19060.hp1 NA19079.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0007 others(4): Show a0001c0001 a0001c0002 a0001c0007 a0001c0009 a0002c0003 a0002c0008 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0022 a0001c0001t0023 a0001c0001t0040 a0001c0001t0042 a0001c0001t0046 a0001c0001t0052 a0001c0001t0053 a0001c0001t0077 a0001c0001t0088 a0001c0001t0090 a0001c0001t0092 a0001c0001t0137 a0001c0001t0157 a0001c0002t0009 a0001c0002t0015 a0001c0007t0004 a0001c0007t0007 a0001c0007t0078 a0001c0009t0076 a0002c0003t0001 a0002c0003t0021 a0002c0003t0044 a0002c0003t0067 a0002c0003t0119 a0002c0008t0002 a0002c0008t0007 a0003c0004t0019 a0003c0004t0038 a0003c0004t0057 a0003c0004t0058 a0003c0004t0091	a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0054 others(48): Show a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0002g0094 a0001c0001t0002g0224 a0001c0001t0003g0171 a0001c0001t0004g0080 a0001c0001t0004g0219 a0001c0001t0004g0229 a0001c0001t0007g0122 a0001c0001t0008g0104 a0001c0001t0008g0130 a0001c0001t0012g0083 a0001c0001t0012g0223 a0001c0001t0022g0214 a0001c0001t0023g0102 a0001c0001t0040g0070 a0001c0001t0042g0072 a0001c0001t0046g0050 a0001c0001t0052g0055 a0001c0001t0053g0045 a0001c0001t0077g0212 a0001c0001t0088g0123 a0001c0001t0090g0106 a0001c0001t0092g0211 a0001c0001t0137g0159 a0001c0001t0157g0029 a0001c0002t0009g0186 a0001c0002t0015g0138 a0001c0007t0004g0075 a0001c0007t0004g0077 a0001c0007t0004g0079 a0001c0007t0007g0078 a0001c0007t0078g0076 a0001c0009t0076g0213 a0002c0003t0001g0026 a0002c0003t0021g0103 a0002c0003t0021g0105 a0002c0003t0044g0074 a0002c0003t0067g0109 a0002c0003t0119g0187 a0002c0008t0002g0218 a0002c0008t0002g0221 a0002c0008t0007g0225 a0003c0004t0019g0145 a0003c0004t0038g0066 a0003c0004t0057g0071 a0003c0004t0058g0051 a0003c0004t0091g0107	51	234	0.2180	49	c.581 others(68): Show c.581-22492_581-22491insTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGG	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SV2C_chr5_76078383_76338956	76336017	A A	ACCTCCCG others(42): Show ACCTCCCGGAGGGGGCGGCTAGCCGGGCGGGGGGCTGACCCCCCCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0078 a0001c0007t0007g0078	1	234	0.0043	49	c.10 others(62): Show c.10470_*10471insCCTCCCGGAGGGGGCGGCTAGCCGGGCGGGGG GCTGACCCCCCCACCTC	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding		2062		chr5	TogoVar
SVOP_chr12_108902741_109026068	108903322	G G	GAAGGAAG others(42): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0054 a0001c0001t0009g0054	1	288	0.0035	49	c.92 others(60): Show c.9212_*9213insTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTT	SVOP	ENSG00000166111.10	transcript	ENST00000610966.5	protein_coding		4418		chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	426	0.0024	49	c.236 others(64): Show c.236-828_236-827insAAAAAAAAAAAAATATATATATATATATAT ATATATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	426	0.0024	49	c.236 others(64): Show c.236-828_236-827insAAAAAAAAAAAAAAAAAAATATATATATAT ATATATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	426	0.0024	49	c.236 others(64): Show c.236-828_236-827insAAAAAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYK_chr9_90796819_90903549	90841427	T T	TAATGTGT others(42): Show TAATGTGTTGTGTGTATAGTGTGTATGTAGTTTGTATGTGGTATGTGTGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00597.hp2 others(33): Show HG00408.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG01515.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02155.hp1 HG04184.hp1 HG04184.hp2 NA18747.hp2 NA18940.hp2 NA18944.hp2 NA18950.hp1 NA18955.hp2 NA18959.hp2 NA18961.hp2 NA18967.hp1 NA18979.hp2 NA18980.hp1 NA18986.hp1 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA19003.hp2 NA19007.hp2 NA19010.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 others(12): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0056 a0001c0002t0001 a0001c0002t0003 a0001c0003t0003 a0001c0003t0005 a0001c0003t0008 a0001c0003t0011 a0001c0003t0018 a0001c0003t0023 a0001c0003t0024 a0001c0003t0028 a0001c0003t0052	a0001c0001t0003g0128 a0001c0001t0003g0204 a0001c0001t0007g0341 others(33): Show a0001c0001t0003g0128 a0001c0001t0003g0204 a0001c0001t0007g0341 a0001c0001t0009g0206 a0001c0001t0056g0150 a0001c0002t0001g0268 a0001c0002t0001g0340 a0001c0002t0003g0280 a0001c0003t0003g0063 a0001c0003t0005g0196 a0001c0003t0008g0054 a0001c0003t0008g0162 a0001c0003t0008g0192 a0001c0003t0008g0216 a0001c0003t0008g0217 a0001c0003t0008g0246 a0001c0003t0008g0284 a0001c0003t0008g0302 a0001c0003t0011g0193 a0001c0003t0011g0195 a0001c0003t0011g0197 a0001c0003t0011g0198 a0001c0003t0011g0200 a0001c0003t0011g0213 a0001c0003t0011g0218 a0001c0003t0011g0285 a0001c0003t0018g0199 a0001c0003t0018g0208 a0001c0003t0018g0209 a0001c0003t0018g0289 a0001c0003t0018g0355 a0001c0003t0023g0250 a0001c0003t0024g0191 a0001c0003t0028g0164 a0001c0003t0028g0212 a0001c0003t0052g0161	36	376	0.0957	49	c.-41 others(66): Show c.-41-2430_-41-2429insATGTGTTGTGTGTATAGTGTGTATGTAG TTTGTATGTGGTATGTGTGCA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYN3_chr22_32502820_33063381	32572243	C C	CTCCTTCC others(42): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0172 a0001c0001t0007g0172	1	184	0.0054	49	c.774 others(68): Show c.774+24430_774+24431insAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGA	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	7/13			chr22	TogoVar
SYNM_chr15_99100080_99140593	99104555	A A	ATATATAT others(42): Show ATATATATAAATATATATATTATATATATATTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0198 a0004c0004t0005g0198	1	420	0.0024	49	c.-64 others(58): Show c.-645_-644insTATATATAAATATATATATTATATATATATTTTTTT TTTTTTTTTTTTT	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		524		chr15	TogoVar
SYNRG_chr17_37509807_37614418	37565893	A A	ACCCCGTC others(42): Show ACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0299 a0003c0004t0002g0299	1	349	0.0029	49	c.148 others(68): Show c.1481+2849_1481+2897dupCGGCTGGCCGGGCAGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGG	SYNRG	ENSG00000275066.5	transcript	ENST00000612223.5	protein_coding	11/21			chr17	TogoVar
SYT14_chr1_209933217_210176315	210071264	G G	GTAAGTAG others(42): Show GTAAGTAGTATAATTATATATATATATATATATATATAAGTAGTATAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0270 a0001c0001t0025g0270	1	358	0.0028	49	c.443 others(68): Show c.443-23047_443-23046insATTATATATATATATATATATATATA AGTAGTATAAAATAAGTAGTATA	SYT14	ENSG00000143469.21	transcript	ENST00000367019.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SYT1_chr12_78859774_79457008	79308551	A A	AGAAAGAA others(42): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0015 a0001c0002t0012g0015	1	62	0.0161	49	c.810 others(66): Show c.810+9000_810+9001insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAG	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	8/10			chr12	TogoVar
SYT9_chr11_7246904_7474043	7247575	A A	ATCATATC others(42): Show ATCATATCAATATATACAACGATAACATATCATCTGTAGACAATAATACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0224 a0001c0001t0003g0224	1	272	0.0037	49	c.-46 others(60): Show c.-4612_-4611insTCATATCAATATATACAACGATAACATATCATCT GTAGACAATAATACG	SYT9	ENSG00000170743.17	transcript	ENST00000318881.11	protein_coding		4328		chr11	TogoVar
TACR1_chr2_75041463_75204520	75094859	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	282	0.0036	49	c.584 others(68): Show c.584+25714_584+25715insAAAAAAATATATATATATATATATAT ATATATATATATATATATATATA	TACR1	ENSG00000115353.11	transcript	ENST00000305249.10	protein_coding	2/4			chr2	TogoVar
TALDO1_chr11_742464_770012	763236	C C	CCCCCCGC others(42): Show CCCCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCCCCGCCCTCACCCAT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	416	0.0024	49	c.462 others(64): Show c.462-104_462-103insCGCCCTCACCCGCCCCCGCCCTCACCCGCC CCCGCCCTCACCCATCCCC	TALDO1	ENSG00000177156.11	transcript	ENST00000319006.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
TAS2R3_chr7_141759097_141770197	141769823	G G	GAAGTTTT others(42): Show GAAGTTTTAAGAATAAATAAAATAAATAAATAAAATAAATAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	412	0.0024	49	c.47 others(60): Show c.4714_*4715insAAGTTTTAAGAATAAATAAAATAAATAAATAAAA TAAATAAAAAAAAAA	TAS2R3	ENSG00000127362.2	transcript	ENST00000247879.2	protein_coding		4627		chr7	TogoVar
TBC1D14_chr4_6904826_7038114	6977077	C C	CTCCTCTC others(42): Show CTCCTCTCCCTCTCCCTCTCCCTCTCCCCACGGTCTCCCTCTCCCCACGG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0012 a0002c0002t0004g0012	1	304	0.0033	49	c.843 others(66): Show c.843+9655_843+9656insCTCTCCCTCTCCCTCTCCCTCTCCCCAC GGTCTCCCTCTCCCCACGGTC	TBC1D14	ENSG00000132405.19	transcript	ENST00000409757.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D16_chr17_79927343_80040872	79929984	C C	CCCTCCCC others(42): Show CCCTCCCCTCCTCTCCCCTCCTCTCCCCTCTCCTCCCTCCTCTCCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0307 a0001c0006t0010g0307	1	334	0.0030	49	c.10 others(62): Show c.10874_*10875insAGAGGGGAGAGGAGGGAGGAGAGGGGAGAGGA GGGGAGAGGAGGGGAGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2358		chr17	TogoVar
TBC1D22A_chr22_46757650_47180693	46772471	A A	ATGTATAC others(42): Show ATGTATACACACATATACATATATATGTATACACACATATACATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03239.hp2 HG03486.hp1 others(1): Show HG03195.hp2 HG03239.hp2 HG03486.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011	a0001c0001t0003g0069 a0001c0001t0003g0075 a0001c0001t0006g0108 others(1): Show a0001c0001t0003g0069 a0001c0001t0003g0075 a0001c0001t0006g0108 a0001c0001t0011g0106	4	112	0.0357	49	c.62+ others(64): Show c.62+9623_62+9624insTGTATACACACATATACATATATATGTATA CACACATATACATATATAT	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12			chr22	TogoVar
TBC1D2B_chr15_77989985_78082711	77992871	T T	TCCCCCCC others(42): Show TCCCCCCCACTCCCCCCCACTCCCCCCACTCCCCCCCACTCCCCCCACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0010 a0008c0012t0010	a0008c0012t0010g0163 a0008c0012t0010g0163	1	280	0.0036	49	c.52 others(60): Show c.5288_*5289insGAGTGGGGGGAGTGGGGGGGAGTGGGGGGAGTGG GGGGGAGTGGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2113		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992871	T T	TCCCCCCC others(42): Show TCCCCCCCACTCCCCCCCACTCCCCCCCACTCCCCCCACTCCCCCCACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0214 a0002c0003t0001g0214	1	280	0.0036	49	c.52 others(60): Show c.5288_*5289insGAGTGGGGGGAGTGGGGGGAGTGGGGGGGAGTGG GGGGGAGTGGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2113		chr15	TogoVar
TBC1D32_chr6_121074494_121339480	121192051	T T	TCTTTATA others(42): Show TCTTTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18986.hp2 NA18957.hp1 NA18986.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0006 a0003c0004t0003g0020 a0003c0004t0003g0006 a0003c0004t0003g0020	2	292	0.0069	49	c.257 others(70): Show c.2570+13023_2570+13024insTATATATATATATATATATATATA TATATATATATATATATATATAAAG	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	22/31			chr6	TogoVar
TBX22_chrX_80009753_80036774	80012157	G G	GAGAAAGA others(42): Show GAGAAAGAAGAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	325	0.0031	49	c.-27 others(60): Show c.-2733_-2732insAGAAAGAAGAGAAAGAGAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAA	TBX22	ENSG00000122145.15	transcript	ENST00000373296.8	protein_coding		2595		chrX	TogoVar
TBX2_chr17_61394843_61414466	61409987	A A	AGACAAAC others(42): Show AGACAAACATTTCCTCCGCGTCAGGGCTGTTGGCTAGAGTGGCAAAATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0098 a0001c0002t0001g0098	1	438	0.0023	49	c.14 others(60): Show c.1481_*1482insGACAAACATTTCCTCCGCGTCAGGGCTGTTGGCT AGAGTGGCAAAATCT	TBX2	ENSG00000121068.14	transcript	ENST00000240328.4	protein_coding		522		chr17	TogoVar
TBXAS1_chr7_139824264_140025293	139950752	A A	ACCCCCTC others(42): Show ACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	270	0.0037	49	c.451 others(66): Show c.451-2611_451-2563dupCTCGCCCTCCATCTACGGGACCCCCTCG CCCTCCATCTACGGGACCCCC	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139984636	G G	GAGGGAGA others(42): Show GAGGGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAA	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0001 a0014c0014t0001	a0014c0014t0001g0163 a0014c0014t0001g0163	1	270	0.0037	49	c.113 others(70): Show c.1134+22405_1134+22406insGGAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGGAAAG	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139984941	A A	AAAGAAAA others(42): Show AAAGAAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	270	0.0037	49	c.113 others(70): Show c.1135-22148_1135-22147insGAAAAGAAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAA	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TCF12_chr15_56913644_57294853	57070704	A A	ACCTCTCT others(42): Show ACCTCTCTATAGTTTGTAGGTAGTGAGTTAGAAATAGGATAATAGAACCT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0016 a0001c0002t0014g0016	1	330	0.0030	49	c.222 others(66): Show c.222+6882_222+6930dupCCTCTCTATAGTTTGTAGGTAGTGAGTT AGAAATAGGATAATAGAACCT	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TCF25_chr16_89868592_89916379	89907669	C C	CCTCCCTC others(42): Show CCTCCCTCCTCTCAGCTCCCGGCTCCCACCTCCCAGTTCCCACCTCCCAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	300	0.0033	49	c.179 others(66): Show c.1799+352_1799+353insTCCTCTCAGCTCCCGGCTCCCACCTCCC AGTTCCCACCTCCCAGCTCCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF4_chr18_55217185_55593192	55592211	T T	TTTAGATG others(42): Show TTTAGATGCCTCTTCAAGTTTAGTCAACTCCAGCTTGCCAAGAATACCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	1	122	0.0082	49	c.-41 others(60): Show c.-4195_-4194insCTGGTATTCTTGGCAAGCTGGAGTTGACTAAACT TGAAGAGGCATCTAA	TCF4	ENSG00000196628.20	transcript	ENST00000354452.8	protein_coding		4020		chr18	TogoVar
TENT5A_chr6_81740730_81757681	81740870	C C	CATATTAT others(42): Show CATATTATATACTATATAATATGTATCATATTATATACTATATAATATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 NA18522.hp1 HG02572.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0085 a0001c0001t0004g0013 a0001c0001t0004g0085	2	446	0.0045	49	c.88 others(60): Show c.8824_*8825insACATATTATATAGTATATAATATGATACATATTA TATAGTATATAATAT	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding		4859		chr6	TogoVar
TET3_chr2_73979910_74113176	74032470	T T	TGTGTGTG others(42): Show TGTGTGTGTGTGCGCGCGCGCGCGCGATGGCCCCAGCGGCTGCAAGAGGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0220 a0001c0002t0023g0220	1	252	0.0040	49	c.361 others(68): Show c.361-13797_361-13796insCGCGCGCGCGCGCGATGGCCCCAGCG GCTGCAAGAGGGGTGTGTGTGTG	TET3	ENSG00000187605.16	transcript	ENST00000409262.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr2	TogoVar

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