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
TRIM24_chr7_138455259_138594996	138572460	AAAATTCT others(34): Show AAAATTCTTTCTGCTTTTTCCTCTGCAGTCCTCATACAGGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00735.hp2 others(61): Show HG00140.hp2 HG00280.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01496.hp2 HG01978.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02683.hp2 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18963.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(10): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0019 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0039 a0001c0002t0004 a0001c0002t0015 a0001c0002t0031 a0001c0009t0003	a0001c0001t0003g0001 a0001c0001t0003g0269 a0001c0001t0003g0270 others(60): Show a0001c0001t0003g0001 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0004g0281 a0001c0001t0008g0272 a0001c0001t0008g0291 a0001c0001t0008g0292 a0001c0001t0008g0293 a0001c0001t0008g0294 a0001c0001t0019g0304 a0001c0001t0019g0305 a0001c0001t0028g0303 a0001c0001t0029g0301 a0001c0001t0030g0306 a0001c0001t0032g0311 a0001c0001t0039g0227 a0001c0002t0004g0148 a0001c0002t0004g0191 a0001c0002t0004g0193 a0001c0002t0004g0194 a0001c0002t0004g0195 a0001c0002t0004g0196 a0001c0002t0004g0197 a0001c0002t0004g0198 a0001c0002t0004g0199 a0001c0002t0004g0200 a0001c0002t0004g0203 a0001c0002t0004g0225 a0001c0002t0004g0246 a0001c0002t0004g0247 a0001c0002t0015g0151 a0001c0002t0015g0152 a0001c0002t0015g0204 a0001c0002t0031g0210 a0001c0009t0003g0268	64	312	0.2051	-41	c.187 others(60): Show c.1879-1044_1879-1004delATTCTTTCTGCTTTTTCCTCTGCAGT CCTCATACAGGTGAA	TRIM24	ENSG00000122779.18	transcript	ENST00000343526.9	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
TRIM37_chr17_58993202_59111880	59091558	TTATATAT others(34): Show TTATATATATAATATATATAATGTATAATATATTATACATTA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA19012.hp2 HG02622.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0128 a0001c0001t0002g0117 a0001c0001t0002g0128	2	342	0.0059	-41	c.124 others(56): Show c.124-259_124-219delTAATGTATAATATATTATACATTATATATA TTATATATATA	TRIM37	ENSG00000108395.14	transcript	ENST00000262294.12	protein_coding	2/23			chr17	TogoVar
TRIML1_chr4_188134441_188152743	188149859	GTGGCGCC others(34): Show GTGGCGCCATCTTGGCTCACCGAAACCTCTAACCCCTGGGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	228	0.0044	-41	c.24 others(52): Show c.2488_*2528delTGGCGCCATCTTGGCTCACCGAAACCTCTAACCC CTGGGTT	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		2117		chr4	TogoVar
TRIML1_chr4_188134441_188152743	188150624	TCCAGTGA others(34): Show TCCAGTGATACATCCTTTCCTTTCCTTCTTTGTCCCAAAGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0166 a0001c0003t0002g0166	1	228	0.0044	-41	c.32 others(52): Show c.3253_*3293delCCAGTGATACATCCTTTCCTTTCCTTCTTTGTCC CAAAGTG	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		2882		chr4	TogoVar
TRIO_chr5_14138342_14515204	14348648	CTGTTTTT others(34): Show CTGTTTTTCCTGTGTGTATATGTGTGTGTACGCACATGAGCA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp1 HG02572.hp2 others(7): Show HG01884.hp1 HG02280.hp1 HG02572.hp2 HG02809.hp1 HG02922.hp2 HG02970.hp1 HG03195.hp1 HG03516.hp2 HG03579.hp1 NA18906.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0005 a0001c0011 others(3): Show a0001c0001 a0001c0005 a0001c0011 a0002c0039 a0004c0032 a0005c0018	a0001c0001t0006 a0001c0005t0002 a0001c0011t0001 others(3): Show a0001c0001t0006 a0001c0005t0002 a0001c0011t0001 a0002c0039t0003 a0004c0032t0001 a0005c0018t0004	a0001c0001t0006g0192 a0001c0005t0002g0186 a0001c0005t0002g0187 others(7): Show a0001c0001t0006g0192 a0001c0005t0002g0186 a0001c0005t0002g0187 a0001c0011t0001g0099 a0001c0011t0001g0101 a0001c0011t0001g0126 a0002c0039t0003g0188 a0004c0032t0001g0037 a0005c0018t0004g0194 a0005c0018t0004g0195	10	198	0.0505	-41	c.204 others(60): Show c.2047-9518_2047-9478delTGTGTATATGTGTGTGTACGCACATG AGCATGTTTTTCCTG	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRMT44_chr4_8435777_8481555	8462082	AATATTGG others(34): Show AATATTGGAATTTGCTGTGTTCAAAATGCCAGTGAAAAGTTC	A A	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0020 a0020	a0020c0020 a0020c0020	a0020c0020t0001 a0020c0020t0001	a0020c0020t0001g0195 a0020c0020t0001g0195	1	410	0.0024	-41	c.120 others(60): Show c.1204-1899_1204-1859delTTGGAATTTGCTGTGTTCAAAATGCC AGTGAAAAGTTCATA	TRMT44	ENSG00000155275.19	transcript	ENST00000389737.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
TRPM2_chr21_44348621_44447644	44409544	GCTGTCTT others(34): Show GCTGTCTTGGTTGGCATAGCCTTGTAGTAAGTTTTGACCGCA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0010 a0001c0008t0010	a0001c0008t0010g0040 a0001c0008t0010g0040	1	44	0.0227	-41	c.296 others(60): Show c.2962+2794_2962+2834delATAGCCTTGTAGTAAGTTTTGACCGC ACTGTCTTGGTTGGC	TRPM2	ENSG00000142185.18	transcript	ENST00000397928.6	protein_coding	19/31		INFO_REALIGN_3_PRIME	chr21	TogoVar
TRPM8_chr2_233912373_234024522	233927750	CTTTCTTT others(34): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0019 a0001c0003t0008g0019	1	322	0.0031	-41	c.117 others(58): Show c.117+1105_117+1145delTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTTCTTTC	TRPM8	ENSG00000144481.17	transcript	ENST00000324695.9	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRPM8_chr2_233912373_234024522	233927767	TTTCTTTC others(34): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0008 a0002c0002t0007g0008	1	322	0.0031	-41	c.117 others(58): Show c.117+1117_117+1157delTTTCTTTCTTTCTTTCTTTCTTTTCTTT CCTTCCTTCCTTC	TRPM8	ENSG00000144481.17	transcript	ENST00000324695.9	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRPM8_chr2_233912373_234024522	233927771	TTTCTTTC others(34): Show TTTCTTTCTTTCTTTCTTTCTTTTCTTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA20905.hp2 HG03471.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0003 a0002c0007t0007 a0001c0001t0003 a0002c0007t0007	a0001c0001t0003g0174 a0002c0007t0007g0061 a0001c0001t0003g0174 a0002c0007t0007g0061	2	322	0.0062	-41	c.117 others(58): Show c.117+1121_117+1161delTTTCTTTCTTTCTTTCTTTTCTTTCCTT CCTTCCTTCCTTC	TRPM8	ENSG00000144481.17	transcript	ENST00000324695.9	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRPM8_chr2_233912373_234024522	233927775	TTTCTTTC others(34): Show TTTCTTTCTTTCTTTCTTTTCTTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0006 a0003c0011t0006	a0003c0011t0006g0303 a0003c0011t0006g0304 a0003c0011t0006g0303 a0003c0011t0006g0304	2	322	0.0062	-41	c.117 others(58): Show c.117+1125_117+1165delTTTCTTTCTTTCTTTTCTTTCCTTCCTT CCTTCCTTCCTTC	TRPM8	ENSG00000144481.17	transcript	ENST00000324695.9	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRPV3_chr17_3505502_3562812	3554920	CCCCATGT others(34): Show CCCCATGTGGCTGCATCCAGCTCCCGTTCACACTACCTGGAA	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0301 a0001c0002t0003g0301	1	404	0.0025	-41	c.-2- others(53): Show c.-2-109_-2-69delTTCCAGGTAGTGTGAACGGGAGCTGGATGCAGC CACATGGG	TRPV3	ENSG00000167723.15	transcript	ENST00000576742.6	protein_coding	1/17			chr17	TogoVar
TRRAP_chr7_98873532_99018241	98907796	ATCCCTGA others(34): Show ATCCCTGACCTGCTTCAGCCATGCTGGCCCCTACAGCTCCCC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp1 HG02895.hp1 others(3): Show HG02622.hp1 HG02630.hp1 HG02895.hp1 HG02897.hp2 HG03130.hp2 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0004 a0001c0005t0004g0005 a0001c0005t0004g0006 others(3): Show a0001c0005t0004g0004 a0001c0005t0004g0005 a0001c0005t0004g0006 a0001c0005t0004g0007 a0001c0005t0004g0008 a0001c0005t0004g0009	6	262	0.0229	-41	c.111 others(58): Show c.1116-899_1116-859delCAGCTCCCCTCCCTGACCTGCTTCAGCC ATGCTGGCCCCTA	TRRAP	ENSG00000196367.15	transcript	ENST00000456197.2	protein_coding	13/72		INFO_REALIGN_3_PRIME	chr7	TogoVar
TSNARE1_chr8_142207080_142408182	142395973	CGCTCTGT others(34): Show CGCTCTGTCCAGGGCAGACGCCTGTGGCTCTCTTTGTCCGTG	C C	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0138 a0003c0003t0002g0138	1	238	0.0042	-41	c.-40 others(58): Show c.-40+7090_-40+7130delCACGGACAAAGAGAGCCACAGGCGTCTG CCCTGGACAGAGC	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	1/13			chr8	TogoVar
TSPAN9_chr12_3072379_3291559	3235210	AAAAAAAA others(34): Show AAAAAAAAATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp2 HG02293.hp2 others(7): Show HG00609.hp2 HG00621.hp2 HG02293.hp2 HG02970.hp2 HG03704.hp2 HG03834.hp2 NA18612.hp2 NA18948.hp2 NA18979.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0020 a0001c0001t0076 a0001c0002t0013	a0001c0001t0003g0014 a0001c0001t0004g0151 a0001c0001t0004g0153 others(7): Show a0001c0001t0003g0014 a0001c0001t0004g0151 a0001c0001t0004g0153 a0001c0001t0005g0043 a0001c0001t0006g0194 a0001c0001t0006g0219 a0001c0001t0007g0162 a0001c0001t0020g0229 a0001c0001t0076g0220 a0001c0002t0013g0149	10	288	0.0347	-41	c.63+ others(58): Show c.63+33956_63+33996delAAAAAAATATATATATATATATATATAT ATATATATATATA	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3235212	AAAAAAAT others(34): Show AAAAAAATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	288	0.0035	-41	c.63+ others(58): Show c.63+33958_63+33998delAAAAATATATATATATATATATATATAT ATATATATATATA	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPEAR_chr21_44492893_44716572	44697007	TCCCATCC others(34): Show TCCCATCCAGCACCCAGACGCTCACTCACTCCCTCCCTCCTG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00438.hp2 others(52): Show HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp2 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02040.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02165.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02572.hp1 HG02895.hp2 HG03017.hp1 HG03098.hp1 HG03195.hp1 HG03453.hp1 HG03540.hp2 HG03654.hp1 HG04115.hp1 HG04184.hp2 HG06807.hp2 NA18948.hp1 NA18949.hp2 NA18971.hp2 NA18975.hp1 NA18986.hp2 NA18990.hp2 NA19011.hp2 NA19070.hp2 NA19077.hp1 NA19088.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0004t0010 a0002c0003t0001	a0001c0001t0001g0017 a0001c0001t0001g0034 a0001c0001t0001g0051 others(52): Show a0001c0001t0001g0017 a0001c0001t0001g0034 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0200 a0001c0001t0001g0210 a0001c0001t0001g0231 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0290 a0001c0001t0003g0134 a0001c0001t0003g0216 a0001c0001t0004g0033 a0001c0001t0005g0125 a0001c0001t0006g0264 a0001c0001t0009g0149 a0001c0001t0014g0067 a0001c0001t0015g0152 a0001c0001t0018g0135 a0001c0004t0010g0088 a0001c0004t0010g0148 a0002c0003t0001g0127	55	294	0.1871	-41	c.82+ others(58): Show c.82+14385_82+14425delCAGGAGGGAGGGAGTGAGTGAGCGTCTG GGTGCTGGATGGG	TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	1/11			chr21	TogoVar
TTLL8_chr22_50013575_50063298	50021039	CTGATGTG others(34): Show CTGATGTGCACTCCTCCATCTGACCTGCACTCCTCCATCTGA	C C	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0215 a0005c0005t0002g0215	1	224	0.0045	-41	c.225 others(60): Show c.2252-2289_2252-2249delTCAGATGGAGGAGTGCAGGTCAGATG GAGGAGTGCACATCA	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50021770	GTGCACTC others(34): Show GTGCACTCCTCCATCTGACGACGTGCACTCCTCCATCTGACA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03834.hp1 HG03688.hp2 HG03834.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0032 a0005c0005t0001g0139 a0005c0005t0001g0032 a0005c0005t0001g0139	2	224	0.0089	-41	c.225 others(60): Show c.2252-3020_2252-2980delTGTCAGATGGAGGAGTGCACGTCGTC AGATGGAGGAGTGCA	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TUBB3_chr16_89918342_89941097	89933939	TGGGCCGT others(34): Show TGGGCCGTGGATGCCACGTTCCCATGTCTGTGTCCTGGGGCG	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01109.hp1 HG01256.hp1 others(26): Show HG01106.hp2 HG01109.hp1 HG01256.hp1 HG02258.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02630.hp1 HG02735.hp2 HG02922.hp2 HG03239.hp1 HG03471.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18951.hp1 NA18970.hp2 NA18979.hp1 NA19001.hp2 NA19057.hp1 NA19066.hp2 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0016 a0001c0001t0001g0056 a0001c0001t0001g0059 others(20): Show a0001c0001t0001g0016 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0101 a0001c0001t0001g0113 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0002g0039 a0001c0002t0001g0020 a0001c0002t0001g0108	29	398	0.0729	-41	c.277 others(56): Show c.277+385_277+425delTGTCTGTGTCCTGGGGCGGGGCCGTGGATG CCACGTTCCCA	TUBB3	ENSG00000258947.8	transcript	ENST00000315491.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
TUBB3_chr16_89918342_89941097	89933963	TGTCTGTG others(34): Show TGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00733.hp2 others(20): Show HG00099.hp1 HG00140.hp1 HG00733.hp2 HG01069.hp1 HG01071.hp1 HG01109.hp2 HG01123.hp1 HG01358.hp2 HG01516.hp1 HG01517.hp2 HG02717.hp2 HG02895.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03139.hp2 HG03239.hp2 HG03471.hp2 HG03540.hp2 HG03834.hp1 NA18522.hp2 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0027 a0001c0001t0001g0071 a0001c0001t0001g0112 others(10): Show a0001c0001t0001g0027 a0001c0001t0001g0071 a0001c0001t0001g0112 a0001c0001t0002g0139 a0001c0001t0003g0008 a0001c0001t0003g0018 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0185	23	398	0.0578	-41	c.277 others(56): Show c.277+469_277+509delTCTGTGTCCTGGGGCGGGGCCGTGGATGCC ACGTTCCCACG	TUBB3	ENSG00000258947.8	transcript	ENST00000315491.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
TUBB3_chr16_89918342_89941097	89934127	CGCCTGTG others(34): Show CGCCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCAT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp2 HG01175.hp2 others(9): Show HG01106.hp1 HG01106.hp2 HG01175.hp2 HG01346.hp2 HG02486.hp2 HG02602.hp1 HG03688.hp1 HG03688.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0168 others(7): Show a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0002g0140 a0001c0001t0002g0153 a0001c0001t0002g0161 a0001c0001t0002g0202 a0001c0002t0001g0020 a0001c0002t0001g0108	12	398	0.0302	-41	c.278 others(56): Show c.278-518_278-478delCCTGTGTCCTGGGGCGGGGCCGTGGATGCC ACGTTCCCATG	TUBB3	ENSG00000258947.8	transcript	ENST00000315491.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
TUBGCP2_chr10_133273635_133313872	133291482	CCGGGGAG others(34): Show CCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0052 a0001c0002t0003g0052	1	284	0.0035	-41	c.121 others(59): Show c.1214+976_1214+1016delACGGTGCATGCTGCCCTCTCCCGTACA GGTAGGGCTCCCCG	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TULP3_chr12_2885891_2946138	2940950	TACACGAC others(34): Show TACACGACAGCATGTGGGGAAGGACTTATGGTGGGCCAGGTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0173 a0001c0002t0020g0173	1	372	0.0027	-41	c.15 others(52): Show c.1507_*1547delACACGACAGCATGTGGGGAAGGACTTATGGTGGG CCAGGTG	TULP3	ENSG00000078246.17	transcript	ENST00000448120.7	protein_coding	11/11	1507		chr12	TogoVar
TULP4_chr6_158307465_158516828	158348906	CGAAGGGC others(34): Show CGAAGGGCGGCCGGGCAGAGGCACTCCTCACCTCCCAGATGA	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0045 a0001c0033t0045	a0001c0033t0045g0267 a0001c0033t0045g0267	1	268	0.0037	-41	c.252 others(60): Show c.252+34639_252+34679delGAAGGGCGGCCGGGCAGAGGCACTCC TCACCTCCCAGATGA	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	1/13			chr6	TogoVar
TYMS_chr18_652653_678578	666895	GGTGATGG others(34): Show GGTGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGAT	G G	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0086 a0001c0001t0004g0086	1	482	0.0021	-41	c.455 others(58): Show c.455-2175_455-2135delTGATGGAGATGGTGATGGTGATGGAGAT GGTGATGGTGATG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	667123	GGTGATGG others(34): Show GGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGGAGAT	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	482	0.0021	-41	c.455 others(58): Show c.455-1947_455-1907delTGATGGAGATGGTGATGGTGATGGTGAT GGTGATGGAGATG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	667251	TGATGGTG others(34): Show TGATGGTGATGGAGATGGTGATGGTGATGGGATGGTGATGGA	T T	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0429 a0001c0001t0004g0429	1	482	0.0021	-41	c.455 others(58): Show c.455-1809_455-1769delAGATGGTGATGGTGATGGGATGGTGATG GAGATGGTGATGG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	667263	AGATGGTG others(34): Show AGATGGTGATGGTGATGGGATGGTGATGGAGATGGTGATGGT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18965.hp2 HG03831.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0152 a0001c0001t0004g0187 a0001c0001t0001g0152 a0001c0001t0004g0187	2	482	0.0042	-41	c.455 others(58): Show c.455-1797_455-1757delTGATGGGATGGTGATGGAGATGGTGATG GTGATGGTGATGG	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYW1_chr7_66991833_67244514	67042004	GTATAATT others(34): Show GTATAATTATATTAGAATTATATAATTATATTAGAATTAATA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0363 a0002c0003t0002g0363	1	364	0.0028	-41	c.985 others(58): Show c.985-7906_985-7866delATATATAATTATATTAGAATTATATAAT TATATTAGAATTA	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
UBAP2_chr9_33916693_34053887	33939814	GGAGGAGG others(34): Show GGAGGAGGAAGGGGGGGAGGAGGGGGAGGGGGAGGAGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	356	0.0028	-41	c.192 others(60): Show c.1929+1794_1929+1834delTCCCCCTCCTCCCCCTCCCCCTCCTC CCCCCCTTCCTCCTC	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	16/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	33981103	GATATATA others(34): Show GATATATATATATATATATATATATATATATATATTCTGGAT	G G	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0230 a0002c0001t0004g0230	1	356	0.0028	-41	c.520 others(58): Show c.520+5616_520+5656delATCCAGAATATATATATATATATATATA TATATATATATAT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	6/28			chr9	TogoVar
UBE2E1_chr3_23800955_23896640	23882594	CGGGGAGG others(34): Show CGGGGAGGCTCAGGCCACGTGGGAGCCCACTGCAGGGGTGGA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02602.hp2 HG02738.hp2 others(7): Show HG00558.hp2 HG02602.hp2 HG02738.hp2 HG03688.hp2 HG03927.hp1 HG04184.hp2 HG04204.hp2 NA18522.hp1 NA18954.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0003 a0001c0001t0003 a0001c0003t0003	a0001c0001t0003g0247 a0001c0003t0003g0013 a0001c0003t0003g0014 others(7): Show a0001c0001t0003g0247 a0001c0003t0003g0013 a0001c0003t0003g0014 a0001c0003t0003g0015 a0001c0003t0003g0016 a0001c0003t0003g0027 a0001c0003t0003g0069 a0001c0003t0003g0348 a0001c0003t0003g0349 a0001c0003t0003g0357	10	370	0.0270	-41	c.204 others(58): Show c.204-4962_204-4922delAGGCCACGTGGGAGCCCACTGCAGGGGT GGAGGGGAGGCTC	UBE2E1	ENSG00000170142.12	transcript	ENST00000306627.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
UBE2T_chr1_202326657_202346936	202343931	ACTAAATG others(34): Show ACTAAATGTACAGTTTCCATTTGTCCACCAGAGGGGGTATGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	-41	c.-21 others(52): Show c.-2142_-2102delACATACCCCCTCTGGTGGACAAATGGAAACTGTA CATTTAG	UBE2T	ENSG00000077152.12	transcript	ENST00000646651.1	protein_coding		1996		chr1	TogoVar
UBE2U_chr1_64198623_64272368	64201359	CCGCCCCC others(34): Show CCGCCCCCTCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG02257.hp2 HG02280.hp2 HG01433.hp2 HG02257.hp2 HG02280.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0033 a0004c0005t0001g0034 a0004c0005t0001g0035 a0004c0005t0001g0033 a0004c0005t0001g0034 a0004c0005t0001g0035	3	330	0.0091	-41	c.-26 others(52): Show c.-2691_-2651delCGCCCCCTCTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGT	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding		2263		chr1	TogoVar
UCKL1_chr20_63934829_63961416	63960929	AGCAGGGG others(34): Show AGCAGGGGGCTGGACACAGCCTTCGGGACCAGGCAAGCACCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	356	0.0028	-41	c.-45 others(52): Show c.-4598_-4558delAGGTGCTTGCCTGGTCCCGAAGGCTGTGTCCAGC CCCCTGC	UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding		4514		chr20	TogoVar
ULK1_chr12_131889622_131928150	131917126	GGAGGCTG others(34): Show GGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTC	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0317 a0001c0002t0005g0317	1	344	0.0029	-41	c.218 others(57): Show c.2182+87_2182+127delAGGCTGTGGGATGGGGCTCGAGGCTGTGG GATGGGGGTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
UMODL1_chr21_42066317_42147996	42137625	CGCAGGCT others(34): Show CGCAGGCTGACAGGAAGGTGGGTGCGGAGTGGGGTGGGAGGT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00408.hp2 HG00438.hp1 others(85): Show HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00621.hp2 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02071.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03130.hp1 HG03239.hp2 HG03453.hp2 HG03491.hp1 HG03654.hp2 HG03710.hp2 HG04184.hp2 NA18906.hp2 NA18943.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18962.hp2 NA18966.hp1 NA18969.hp1 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18980.hp1 NA18985.hp1 NA18992.hp1 NA18999.hp2 NA19000.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19057.hp1 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19087.hp2 NA19091.hp1 homoSapiens_chm13v2.hp1	a0004 a0005 a0015 others(35): Show a0004 a0005 a0015 a0016 a0030 a0032 a0036 a0041 a0042 a0044 a0045 a0047 a0048 a0051 a0053 a0064 a0065 a0066 a0068 a0070 a0071 a0080 a0082 a0084 a0086 a0087 a0089 a0093 a0095 a0098 a0099 a0104 a0109 a0110 a0112 a0116 a0123 a0126	a0004c0006 a0004c0032 a0004c0033 others(45): Show a0004c0006 a0004c0032 a0004c0033 a0004c0126 a0004c0196 a0004c0199 a0005c0002 a0015c0010 a0016c0017 a0030c0025 a0032c0048 a0032c0094 a0036c0060 a0036c0123 a0041c0037 a0042c0176 a0042c0177 a0044c0058 a0045c0047 a0047c0049 a0048c0056 a0051c0151 a0051c0185 a0053c0138 a0053c0183 a0064c0068 a0065c0083 a0066c0084 a0068c0072 a0070c0077 a0071c0079 a0080c0115 a0082c0160 a0084c0119 a0086c0174 a0087c0089 a0089c0175 a0093c0097 a0095c0090 a0098c0104 a0099c0099 a0104c0148 a0109c0190 a0110c0187 a0112c0131 a0116c0125 a0123c0087 a0126c0086	a0004c0006t0002 a0004c0032t0002 a0004c0032t0024 others(49): Show a0004c0006t0002 a0004c0032t0002 a0004c0032t0024 a0004c0033t0002 a0004c0126t0002 a0004c0196t0024 a0004c0199t0002 a0005c0002t0002 a0015c0010t0002 a0015c0010t0016 a0016c0017t0002 a0030c0025t0013 a0032c0048t0002 a0032c0094t0002 a0036c0060t0002 a0036c0123t0002 a0041c0037t0015 a0042c0176t0002 a0042c0177t0002 a0044c0058t0002 a0045c0047t0002 a0045c0047t0016 a0047c0049t0002 a0048c0056t0002 a0048c0056t0041 a0051c0151t0002 a0051c0185t0002 a0053c0138t0002 a0053c0183t0002 a0064c0068t0002 a0065c0083t0002 a0066c0084t0002 a0068c0072t0015 a0070c0077t0002 a0071c0079t0002 a0080c0115t0002 a0082c0160t0002 a0084c0119t0013 a0086c0174t0002 a0087c0089t0002 a0089c0175t0002 a0093c0097t0002 a0095c0090t0016 a0098c0104t0002 a0099c0099t0002 a0104c0148t0042 a0109c0190t0002 a0110c0187t0002 a0112c0131t0002 a0116c0125t0002 a0123c0087t0002 a0126c0086t0002	a0004c0006t0002g0012 a0004c0006t0002g0164 a0004c0006t0002g0167 others(84): Show a0004c0006t0002g0012 a0004c0006t0002g0164 a0004c0006t0002g0167 a0004c0006t0002g0194 a0004c0006t0002g0204 a0004c0006t0002g0206 a0004c0006t0002g0209 a0004c0006t0002g0228 a0004c0006t0002g0393 a0004c0032t0002g0036 a0004c0032t0002g0057 a0004c0032t0024g0035 a0004c0033t0002g0240 a0004c0033t0002g0335 a0004c0033t0002g0362 a0004c0126t0002g0118 a0004c0196t0024g0090 a0004c0199t0002g0084 a0005c0002t0002g0049 a0005c0002t0002g0091 a0005c0002t0002g0092 a0005c0002t0002g0093 a0005c0002t0002g0096 a0005c0002t0002g0098 a0005c0002t0002g0170 a0005c0002t0002g0171 a0005c0002t0002g0173 a0005c0002t0002g0239 a0005c0002t0002g0300 a0005c0002t0002g0314 a0015c0010t0002g0236 a0015c0010t0002g0241 a0015c0010t0002g0249 a0015c0010t0002g0268 a0015c0010t0016g0353 a0016c0017t0002g0120 a0016c0017t0002g0126 a0016c0017t0002g0127 a0016c0017t0002g0132 a0016c0017t0002g0140 a0030c0025t0013g0005 a0030c0025t0013g0368 a0032c0048t0002g0014 a0032c0048t0002g0015 a0032c0094t0002g0095 a0036c0060t0002g0199 a0036c0060t0002g0349 a0036c0123t0002g0105 a0041c0037t0015g0243 a0041c0037t0015g0343 a0042c0176t0002g0088 a0042c0177t0002g0089 a0044c0058t0002g0215 a0044c0058t0002g0216 a0045c0047t0002g0290 a0045c0047t0016g0297 a0047c0049t0002g0266 a0047c0049t0002g0288 a0048c0056t0002g0196 a0048c0056t0041g0365 a0051c0151t0002g0020 a0051c0185t0002g0099 a0053c0138t0002g0200 a0053c0183t0002g0303 a0064c0068t0002g0282 a0065c0083t0002g0248 a0066c0084t0002g0232 a0068c0072t0015g0265 a0070c0077t0002g0034 a0071c0079t0002g0264 a0080c0115t0002g0153 a0082c0160t0002g0041 a0084c0119t0013g0279 a0086c0174t0002g0340 a0087c0089t0002g0187 a0089c0175t0002g0192 a0093c0097t0002g0287 a0095c0090t0016g0112 a0098c0104t0002g0246 a0099c0099t0002g0109 a0104c0148t0042g0379 a0109c0190t0002g0392 a0110c0187t0002g0179 a0112c0131t0002g0176 a0116c0125t0002g0044 a0123c0087t0002g0007 a0126c0086t0002g0218	88	400	0.2200	-41	c.21 others(53): Show c.21+8_*21+48delCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAA GGTGGGTG	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
USP40_chr2_233470526_233571782	233567355	TATAACCT others(34): Show TATAACCTTATATAAGATTATAGCTATATAACCTTATATAAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0013 a0008c0011t0013	a0008c0011t0013g0286 a0008c0011t0013g0286	1	324	0.0031	-41	c.-73 others(50): Show c.-732_-692delCTTATATAAGGTTATATAGCTATAATCTTATATAAG GTTAT	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		574		chr2	TogoVar
USP47_chr11_11836972_11966887	11842381	CGAGCAGT others(34): Show CGAGCAGTTGGGAGACCCGCTGGCTCTAGGGGCCGGGGAGCG	C C	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02155.hp1 NA18972.hp1 others(2): Show HG02135.hp1 HG02155.hp1 NA18972.hp1 NA18988.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(2): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037	5	386	0.0130	-41	c.39+ others(54): Show c.39+160_39+200delGCAGTTGGGAGACCCGCTGGCTCTAGGGGCCG GGGAGCGGA	USP47	ENSG00000170242.19	transcript	ENST00000527733.7	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
UTRN_chr6_144280335_144858034	144635504	CTTTTTTT others(34): Show CTTTTTTTTTCTTTTTTTTTTTTTTTCTTTTCTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0015 a0015	a0015c0049 a0015c0049	a0015c0049t0001 a0015c0049t0001	a0015c0049t0001g0067 a0015c0049t0001g0067	1	128	0.0078	-41	c.748 others(62): Show c.7480-42892_7480-42852delCTTTTTTTTTTTTTTTCTTTTCTT TTTTTTTTTTTTTTTTT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	51/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
VAV2_chr9_133756894_133997324	133827441	GTGGGGGC others(34): Show GTGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGAC	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0027 a0001c0007t0027	a0001c0007t0027g0092 a0001c0007t0027g0092	1	200	0.0050	-41	c.449 others(58): Show c.449+6790_449+6830delGTCAGCCTCAGTGGGCGCAGCGGTAGGT GGTGATGCCCCCA	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VCX2_chrX_8164944_8176267	8169789	TCCTCCCT others(34): Show TCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0002 a0009c0010t0002	a0009c0010t0002g0013 a0009c0010t0002g0013	1	115	0.0087	-41	c.20 others(50): Show c.202_*242delGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		154		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467354	GAGGTGGT others(34): Show GAGGTGGTGTGTGGGGAGGGAGAAAGGAAAGAAGGAAGGAAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG02155.hp1 HG02451.hp1 HG00280.hp1 HG02155.hp1 HG02451.hp1	a0001 a0021 a0001 a0021	a0001c0001 a0021c0021 a0001c0001 a0021c0021	a0001c0001t0001 a0021c0021t0001 a0001c0001t0001 a0021c0021t0001	a0001c0001t0001g0001 a0021c0021t0001g0001 a0001c0001t0001g0001 a0021c0021t0001g0001	3	271	0.0111	-41	c.97 others(51): Show c.972_*1012delAGGTGGTGTGTGGGGAGGGAGAAAGGAAAGAAGGA AGGAAT	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		845		chrX	TogoVar
VCX_chrX_7838171_7849143	7844542	GTGTGGGG others(34): Show GTGTGGGGAGGGAGAAAGGAAAGAAGGAAGGAACAAGTGGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02818.hp2 HG02572.hp1 HG02818.hp2	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0010 a0002c0031t0010	a0002c0031t0010g0002 a0002c0031t0010g0002	2	341	0.0059	-41	c.52 others(50): Show c.527_*567delTGTGGGGAGGGAGAAAGGAAAGAAGGAAGGAACAAG TGGTA	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		400		chrX	TogoVar
VGLL4_chr3_11551069_11648915	11573283	GAAAGAAA others(34): Show GAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0356 a0001c0001t0028g0356	1	388	0.0026	-41	c.273 others(58): Show c.273-8305_273-8265delTCTTTCTTCCTTCCTTCCTTTCTTTCTT TCTTTCTTTCTTT	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11573303	GAAAGGAA others(34): Show GAAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0318 a0001c0001t0002g0318	1	388	0.0026	-41	c.273 others(58): Show c.273-8325_273-8285delTCTTTCTTTCTTTCTTTCTTTCTTTCTT CCTTCCTTCCTTT	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VOPP1_chr7_55465613_55577502	55572485	CAGCCCTG others(34): Show CAGCCCTGGCTGCGCTCCGCCCCCGGCCGCCGCGCGCTCCCG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0317 a0001c0002t0008g0317	1	318	0.0031	-41	c.-20 others(50): Show c.-202_-162delCGGGAGCGCGCGGCGGCCGGGGGCGGAGCGCAGCCA GGGCT	VOPP1	ENSG00000154978.13	transcript	ENST00000285279.10	protein_coding	1/5	162		chr7	TogoVar
VPS26C_chr21_37218422_37272334	37271968	GGGAAGCT others(34): Show GGGAAGCTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGCAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	396	0.0025	-41	c.-47 others(52): Show c.-4715_-4675delTCTGCCTCCCAGGCTCAAGCGATCCTCCCACCTC AGCTTCC	VPS26C	ENSG00000157538.14	transcript	ENST00000309117.11	protein_coding		4635		chr21	TogoVar
VPS35_chr16_46651132_46694178	46653243	AGAGGCGC others(34): Show AGAGGCGCCCCCCACCTCCCGGATGGGGCGGCTGGCCGGGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(204): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18962.hp1 NA18962.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18995.hp1 NA18995.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19083.hp1 NA19083.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0008 a0002c0004 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0003t0017 a0001c0005t0024 a0001c0006t0004 a0001c0008t0009 a0002c0004t0009 a0003c0007t0005	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0012 others(169): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0020 a0001c0001t0002g0026 a0001c0001t0002g0053 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0088 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0101 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0115 a0001c0001t0002g0123 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0142 a0001c0001t0003g0001 a0001c0001t0003g0017 a0001c0001t0003g0027 a0001c0001t0003g0045 a0001c0001t0003g0056 a0001c0001t0003g0084 a0001c0001t0003g0108 a0001c0001t0003g0139 a0001c0001t0003g0149 a0001c0001t0003g0152 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0161 a0001c0001t0004g0002 a0001c0001t0004g0004 a0001c0001t0004g0025 a0001c0001t0004g0049 a0001c0001t0004g0057 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0081 a0001c0001t0004g0095 a0001c0001t0004g0117 a0001c0001t0004g0124 a0001c0001t0004g0128 a0001c0001t0004g0141 a0001c0001t0005g0015 a0001c0001t0005g0016 a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0144 a0001c0001t0005g0145 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0150 a0001c0001t0005g0153 a0001c0001t0005g0158 a0001c0001t0005g0159 a0001c0001t0005g0160 a0001c0001t0005g0163 a0001c0001t0005g0164 a0001c0001t0006g0007 a0001c0001t0006g0028 a0001c0001t0006g0029 a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 a0001c0001t0006g0034 a0001c0001t0006g0039 a0001c0001t0006g0040 a0001c0001t0006g0092 a0001c0001t0007g0009 a0001c0001t0007g0048 a0001c0001t0007g0052 a0001c0001t0007g0069 a0001c0001t0007g0073 a0001c0001t0007g0076 a0001c0001t0007g0078 a0001c0001t0007g0079 a0001c0001t0007g0082 a0001c0001t0007g0121 a0001c0001t0009g0071 a0001c0001t0009g0127 a0001c0001t0009g0143 a0001c0001t0010g0058 a0001c0001t0010g0061 a0001c0001t0010g0086 a0001c0001t0010g0125 a0001c0001t0011g0014 a0001c0001t0011g0162 a0001c0001t0011g0175 a0001c0001t0012g0072 a0001c0001t0012g0077 a0001c0001t0012g0116 a0001c0001t0013g0021 a0001c0001t0013g0022 a0001c0001t0014g0074 a0001c0001t0014g0090 a0001c0001t0015g0170 a0001c0001t0015g0171 a0001c0001t0018g0023 a0001c0001t0019g0024 a0001c0001t0020g0085 a0001c0001t0021g0036 a0001c0001t0022g0075 a0001c0001t0023g0110 a0001c0001t0025g0065 a0001c0001t0026g0064 a0001c0001t0027g0051 a0001c0001t0028g0035 a0001c0001t0030g0156 a0001c0001t0031g0046 a0001c0001t0032g0151 a0001c0001t0033g0130 a0001c0003t0017g0181 a0001c0003t0017g0182 a0001c0005t0024g0136 a0001c0006t0004g0087 a0001c0008t0009g0131 a0002c0004t0009g0060 a0003c0007t0005g0146	207	220	0.9409	-41	c.71 others(52): Show c.7188_*7228delCGCCCGGCCAGCCGCCCCATCCGGGAGGTGGGGG GCGCCTC	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding		2888		chr16	TogoVar

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