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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
TRPC4AP_chr20_34997404_35097807	35097505	ATGTACAC others(21): Show ATGTACACACGTGTGTATATATACATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18953.hp2 NA18951.hp1 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0075 a0001c0002t0001g0016 a0001c0002t0001g0075	2	334	0.0060	-28	c.-47 others(39): Show c.-4752_-4725delCATATGTATATATACACACGTGTGTACA		TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding					4699		chr20	TogoVar
TRPC4AP_chr20_34997404_35097807	35097528	CATATGTA others(21): Show CATATGTACACACGTGTGTATATATACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0115	1	334	0.0030	-28	c.-47 others(39): Show c.-4775_-4748delATGTATATATACACACGTGTGTACATAT		TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding					4722		chr20	TogoVar
TRPC4AP_chr20_34997404_35097807	35097531	ATGTACAC others(21): Show ATGTACACACGTGTGTATATATACATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00639.hp1 others(16): Show HG00558.hp1 HG00558.hp2 HG00639.hp1 HG01074.hp1 HG01099.hp2 HG01257.hp1 HG01258.hp2 HG01515.hp2 HG01517.hp2 HG02027.hp1 HG02257.hp2 HG03491.hp1 HG03492.hp2 HG06807.hp2 NA18955.hp2 NA18966.hp1 NA18994.hp2 NA19054.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0071 others(16): Show a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0076 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0114	19	334	0.0569	-28	c.-47 others(39): Show c.-4778_-4751delCATATGTATATATACACACGTGTGTACA		TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding					4725		chr20	TogoVar
TRPC4_chr13_37627063_37874772	37745449	TATATATA others(21): Show TATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0049 a0001c0003t0049	a0001c0003t0049g0198 a0001c0003t0049g0198	1	286	0.0035	-28	c.897 others(43): Show c.897+460_897+487delGTGTATATATATATATATATATATATAT		TRPC4	ENSG00000133107.15	transcript	ENST00000379705.8	protein_coding	3/10						chr13	TogoVar
TRPC6_chr11_101446564_101589007	101494911	ATTTTCAT others(21): Show ATTTTCATATTTTCAGTTATTGACATTAC	A A	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0204 a0001c0003t0010g0204	1	252	0.0040	-28	c.946 others(45): Show c.946-3201_946-3174delGTAATGTCAATAACTGAAAATATGAAAA		TRPC6	ENSG00000137672.13	transcript	ENST00000344327.8	protein_coding	2/12						chr11	TogoVar
TRPC6_chr11_101446564_101589007	101535175	AAAGGAAG others(21): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp2 HG02723.hp2 others(2): Show HG02647.hp1 HG02647.hp2 HG02723.hp2 HG03209.hp2 HG03540.hp2	a0001 a0007 a0001 a0007	a0001c0003 a0007c0021 a0001c0003 a0007c0021	a0001c0003t0002 a0001c0003t0005 a0007c0021t0002 a0001c0003t0002 a0001c0003t0005 a0007c0021t0002	a0001c0003t0002g0131 a0001c0003t0005g0105 a0001c0003t0005g0106 others(2): Show a0001c0003t0002g0131 a0001c0003t0005g0105 a0001c0003t0005g0106 a0001c0003t0005g0107 a0007c0021t0002g0116	5	252	0.0198	-28	c.171 others(47): Show c.171-30405_171-30378delCCTTCCTTCCTTCCTTCCTTCCTTCC TT		TRPC6	ENSG00000137672.13	transcript	ENST00000344327.8	protein_coding	1/12						chr11	TogoVar
TRPM3_chr9_70524060_71126621	71032139	GATTATAT others(21): Show GATTATATATACTATATATTATATAATAT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG02080.hp2 others(7): Show HG00423.hp2 HG00597.hp1 HG02080.hp2 HG02132.hp2 HG02523.hp2 NA18948.hp2 NA18954.hp1 NA18970.hp1 NA19000.hp1 NA19062.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0009	a0001c0001 a0001c0002 a0001c0007 others(4): Show a0001c0001 a0001c0002 a0001c0007 a0001c0010 a0002c0003 a0006c0026 a0009c0042	a0001c0001t0001 a0001c0001t0006 a0001c0002t0012 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0012 a0001c0007t0004 a0001c0010t0045 a0002c0003t0003 a0006c0026t0006 a0009c0042t0004	a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0172 others(7): Show a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0006g0167 a0001c0002t0012g0170 a0001c0007t0004g0174 a0001c0010t0045g0168 a0002c0003t0003g0169 a0006c0026t0006g0165 a0009c0042t0004g0173	10	214	0.0467	-28	c.177 others(47): Show c.177+89011_177+89038delATATTATATAATATATAGTATATATA AT		TRPM3	ENSG00000083067.26	transcript	ENST00000677713.2	protein_coding	1/25						chr9	TogoVar
TRPM4_chr19_49152792_49216836	49197473	CTCCTTCC others(21): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp1 HG03225.hp2 HG02109.hp1 HG02486.hp1 HG03225.hp2	a0001 a0001	a0001c0013 a0001c0020 a0001c0013 a0001c0020	a0001c0013t0001 a0001c0020t0001 a0001c0013t0001 a0001c0020t0001	a0001c0013t0001g0102 a0001c0013t0001g0308 a0001c0020t0001g0218 a0001c0013t0001g0102 a0001c0013t0001g0308 a0001c0020t0001g0218	3	312	0.0096	-28	c.264 others(45): Show c.2645+614_2645+641delCTTCCTTCCTTCCTTCCTTCCTTCCTTC		TRPM4	ENSG00000130529.16	transcript	ENST00000252826.10	protein_coding	17/24					INFO_REALIGN_3_PRIME	chr19	TogoVar
TRPM4_chr19_49152792_49216836	49201994	CGGAGCCC others(21): Show CGGAGCCCGGCTTCTGGGCACACCCTCCT	C C	frameshift_variant frameshift_variant	HIGH	NA18963.hp2 NA18963.hp2	a0014 a0014	a0014c0027 a0014c0027	a0014c0027t0001 a0014c0027t0001	a0014c0027t0001g0203 a0014c0027t0001g0203	1	312	0.0032	-28	c.298 others(37): Show c.2987_3014delAGCCCGGCTTCTGGGCACACCCTCCTGG	p.Glu others(5): Show p.Glu996fs	TRPM4	ENSG00000130529.16	transcript	ENST00000252826.10	protein_coding	20/25	3062/4058	2987/3645	996/1214		INFO_REALIGN_3_PRIME	chr19	TogoVar
TRPM8_chr2_233912373_234024522	233927776	TTCTTTCT others(21): Show TTCTTTCTTTCTTTCTTTTCTTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0288 a0001c0001t0003g0288	1	322	0.0031	-28	c.117 others(45): Show c.117+1124_117+1151delCTTTCTTTCTTTCTTTTCTTTCCTTCCT		TRPM8	ENSG00000144481.17	transcript	ENST00000324695.9	protein_coding	2/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
TRPS1_chr8_115403496_115673975	115461280	GATAGATA others(21): Show GATAGATAGATAGATAGATAGACAGATAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(16): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00438.hp2 HG00738.hp1 HG01071.hp2 HG01192.hp2 HG01361.hp2 HG01433.hp1 HG01975.hp2 HG02300.hp1 HG02300.hp2 HG02698.hp2 HG02809.hp2 HG03669.hp2 HG04115.hp1 NA18970.hp2 NA18984.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0022 a0001c0001t0039 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0061 a0001c0001t0083 a0001c0003t0030	a0001c0001t0001g0113 a0001c0001t0002g0136 a0001c0001t0003g0027 others(16): Show a0001c0001t0001g0113 a0001c0001t0002g0136 a0001c0001t0003g0027 a0001c0001t0003g0048 a0001c0001t0004g0073 a0001c0001t0004g0101 a0001c0001t0008g0007 a0001c0001t0008g0043 a0001c0001t0010g0011 a0001c0001t0015g0019 a0001c0001t0016g0056 a0001c0001t0022g0052 a0001c0001t0039g0009 a0001c0001t0052g0112 a0001c0001t0054g0075 a0001c0001t0055g0055 a0001c0001t0061g0069 a0001c0001t0083g0181 a0001c0003t0030g0154	19	192	0.0990	-28	c.270 others(49): Show c.2701-42856_2701-42829delGTATCTGTCTATCTATCTATCTAT CTAT		TRPS1	ENSG00000104447.13	transcript	ENST00000395715.8	protein_coding	5/6						chr8	TogoVar
TRPV1_chr17_3560446_3614411	3593081	CGTGTGTG others(21): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0107 a0002c0002t0001g0107	1	392	0.0026	-28	c.-33 others(43): Show c.-33-726_-33-699delACACACACACACACACACACACACACAC		TRPV1	ENSG00000196689.13	transcript	ENST00000572705.2	protein_coding	2/16						chr17	TogoVar
TRPV1_chr17_3560446_3614411	3593110	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01243.hp2 HG01884.hp1 others(43): Show HG01167.hp2 HG01243.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 NA18906.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA20300.hp1 NA21309.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0011 a0013	a0001c0001 a0001c0008 a0001c0027 others(8): Show a0001c0001 a0001c0008 a0001c0027 a0001c0028 a0001c0029 a0001c0031 a0003c0003 a0005c0016 a0005c0042 a0011c0041 a0013c0021	a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 others(14): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0021 a0001c0001t0040 a0001c0008t0021 a0001c0008t0031 a0001c0027t0047 a0001c0028t0007 a0001c0029t0046 a0001c0031t0007 a0003c0003t0009 a0005c0016t0026 a0005c0016t0048 a0005c0042t0011 a0011c0041t0007 a0013c0021t0018	a0001c0001t0007g0307 a0001c0001t0007g0316 a0001c0001t0007g0324 others(41): Show a0001c0001t0007g0307 a0001c0001t0007g0316 a0001c0001t0007g0324 a0001c0001t0007g0325 a0001c0001t0007g0327 a0001c0001t0007g0328 a0001c0001t0007g0330 a0001c0001t0007g0332 a0001c0001t0007g0333 a0001c0001t0007g0335 a0001c0001t0007g0337 a0001c0001t0007g0339 a0001c0001t0008g0002 a0001c0001t0008g0003 a0001c0001t0008g0305 a0001c0001t0008g0308 a0001c0001t0008g0310 a0001c0001t0008g0311 a0001c0001t0008g0314 a0001c0001t0008g0315 a0001c0001t0008g0318 a0001c0001t0008g0319 a0001c0001t0008g0320 a0001c0001t0008g0321 a0001c0001t0008g0322 a0001c0001t0008g0329 a0001c0001t0008g0340 a0001c0001t0012g0334 a0001c0001t0021g0306 a0001c0001t0040g0235 a0001c0008t0021g0323 a0001c0008t0031g0005 a0001c0027t0047g0313 a0001c0028t0007g0336 a0001c0029t0046g0338 a0001c0031t0007g0317 a0003c0003t0009g0312 a0003c0003t0009g0326 a0005c0016t0026g0189 a0005c0016t0026g0191 a0005c0016t0048g0309 a0005c0042t0011g0190 a0011c0041t0007g0331 a0013c0021t0018g0203	46	392	0.1174	-28	c.-33 others(43): Show c.-33-755_-33-728delGACACACACACACACACACACACACACA		TRPV1	ENSG00000196689.13	transcript	ENST00000572705.2	protein_coding	2/16						chr17	TogoVar
TSC2_chr16_2042985_2094491	2057761	GCCAGCCC others(21): Show GCCAGCCCTGCCTCAGCCCTGCATCTCTC	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0011 a0011	a0011c0042 a0011c0042	a0011c0042t0002 a0011c0042t0002	a0011c0042t0002g0133 a0011c0042t0002g0133	1	318	0.0031	-28	c.848 others(43): Show c.848+597_848+624delAGCCCTGCATCTCTCCCAGCCCTGCCTC		TSC2	ENSG00000103197.19	transcript	ENST00000219476.9	protein_coding	9/41					INFO_REALIGN_3_PRIME	chr16	TogoVar
TSGA10_chr2_98992261_99159942	99136798	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0242 a0001c0001t0005g0242	1	324	0.0031	-28	c.-62 others(47): Show c.-620-9650_-620-9623delTTTTTTTTTTTTTTTTTTTTTTTTTT TT		TSGA10	ENSG00000135951.16	transcript	ENST00000393483.8	protein_coding	1/20						chr2	TogoVar
TSHZ2_chr20_52967358_53500330	53226119	AACACACA others(21): Show AACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0111 a0001c0001t0012g0111	1	174	0.0058	-28	c.41- others(45): Show c.41-27366_41-27339delCACACACACACACACACACACACACACA		TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53469045	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0077 a0001c0001t0066g0077	1	174	0.0058	-28	c.9- others(45): Show c.9-18087_*9-18060delATATATATATATATATATATATATATAT		TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr20	TogoVar
TSNARE1_chr8_142207080_142408182	142217303	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01070.hp1 HG01071.hp1 others(19): Show HG00673.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01257.hp1 HG01261.hp2 HG01361.hp2 HG01978.hp1 HG01978.hp2 HG02074.hp1 HG02155.hp1 HG02273.hp2 HG03710.hp1 NA18949.hp1 NA18963.hp2 NA18967.hp1 NA19004.hp2 NA19010.hp1 NA19074.hp1 NA19077.hp2 NA20300.hp1 NA20805.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009 a0010	a0001c0001 a0002c0002 a0003c0003 others(5): Show a0001c0001 a0002c0002 a0003c0003 a0005c0009 a0006c0006 a0007c0007 a0009c0019 a0010c0018	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0005c0009t0002 a0006c0006t0002 a0007c0007t0001 a0009c0019t0002 a0010c0018t0002	a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0063 others(19): Show a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0063 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0002g0078 a0002c0002t0001g0179 a0002c0002t0001g0210 a0002c0002t0001g0213 a0002c0002t0002g0004 a0002c0002t0002g0203 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0002g0097 a0003c0003t0002g0118 a0005c0009t0002g0235 a0006c0006t0002g0028 a0006c0006t0002g0069 a0007c0007t0001g0017 a0009c0019t0002g0116 a0010c0018t0002g0026	22	238	0.0924	-28	c.12 others(45): Show c.12-5018_*12-4991delCTTTCTTTCTTTCTTTCTTTCTTTCTTT		TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	13/13						chr8	TogoVar
TSNAX_chr1_231523669_231571524	231532131	AACACACA others(21): Show AACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(50): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00621.hp1 HG00639.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01106.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp2 HG01358.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG01943.hp2 HG01981.hp2 HG01993.hp2 HG02148.hp2 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02698.hp2 HG02809.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 NA18906.hp2 NA18939.hp1 NA18945.hp2 NA18948.hp2 NA18960.hp1 NA18963.hp1 NA18966.hp1 NA18968.hp2 NA18971.hp1 NA19011.hp1 NA19082.hp1 NA19087.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0012 a0002c0003t0001 a0001c0001t0001 a0001c0001t0012 a0002c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0016 others(44): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0337 a0001c0001t0001g0339 a0001c0001t0001g0344 a0001c0001t0012g0338 a0002c0003t0001g0321	53	392	0.1352	-28	c.121 others(45): Show c.121+2800_121+2827delCACACACACACACACACACACACACACA		TSNAX	ENSG00000116918.15	transcript	ENST00000366639.9	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
TSPAN11_chr12_30921748_31001599	30930826	TTTCTCCC others(21): Show TTTCTCCCTGGGATGCTTTTCCAACTGGC	T T	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0196 a0001c0001t0003g0196	1	394	0.0025	-28	c.-12 others(45): Show c.-12+4031_-12+4058delTTCTCCCTGGGATGCTTTTCCAACTGGC		TSPAN11	ENSG00000110900.16	transcript	ENST00000546076.6	protein_coding	1/7						chr12	TogoVar
TSPAN11_chr12_30921748_31001599	30957809	TTCCTTCC others(21): Show TTCCTTCCCTCCTTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0038 a0002c0002t0018g0038	1	394	0.0025	-28	c.84+ others(43): Show c.84+3742_84+3769delCTCCTTCCCTCCCTCCCTCCCTCCTTCC		TSPAN11	ENSG00000110900.16	transcript	ENST00000546076.6	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN12_chr7_120782320_120863144	120800844	GTTCACCT others(21): Show GTTCACCTCCCAGGTTTAAGTGATTCTCC	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02145.hp2 HG03471.hp1 others(1): Show HG01433.hp1 HG02145.hp2 HG03471.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 others(1): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0083	4	294	0.0136	-28	c.612 others(45): Show c.612+5677_612+5704delGGAGAATCACTTAAACCTGGGAGGTGAA		TSPAN12	ENSG00000106025.9	transcript	ENST00000222747.8	protein_coding	7/7						chr7	TogoVar
TSPAN14_chr10_80449310_80527631	80511711	CCTCTCTC others(21): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp2 HG02896.hp2 others(2): Show HG02572.hp1 HG02630.hp2 HG02896.hp2 HG03831.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0011 a0001c0002t0005 a0001c0004t0009 a0001c0001t0011 a0001c0002t0005 a0001c0004t0009	a0001c0001t0011g0196 a0001c0002t0005g0028 a0001c0002t0005g0029 others(2): Show a0001c0001t0011g0196 a0001c0002t0005g0028 a0001c0002t0005g0029 a0001c0002t0005g0230 a0001c0004t0009g0098	5	252	0.0198	-28	c.451 others(43): Show c.451-399_451-372delTCTCTCTCTCTCTCTCTCTCTCTCTCTC		TSPAN14	ENSG00000108219.16	transcript	ENST00000429989.8	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr10	TogoVar
TSPAN15_chr10_69446465_69512666	69455559	CTTTCTTT others(21): Show CTTTCTTTCTTTCTCTTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG02071.hp2 others(11): Show HG00323.hp1 HG00642.hp2 HG02071.hp2 HG02129.hp1 HG02155.hp2 HG02683.hp2 NA18956.hp2 NA18966.hp1 NA18972.hp1 NA18986.hp1 NA18993.hp1 NA19002.hp2 NA19060.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0001t0001 a0001c0001t0004 a0001c0001t0013	a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0299 others(11): Show a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0004g0285 a0001c0001t0004g0287 a0001c0001t0004g0294 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0300 a0001c0001t0004g0301 a0001c0001t0004g0302 a0001c0001t0004g0303 a0001c0001t0013g0283 a0001c0001t0013g0284	14	340	0.0412	-28	c.96+ others(43): Show c.96+3872_96+3899delTCTTTCTTTCTCTTTTCTTTCTTTCTTT		TSPAN15	ENSG00000099282.10	transcript	ENST00000373290.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
TSPAN16_chr19_11291160_11320967	11302652	TACACATA others(21): Show TACACATACATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0172 a0001c0001t0005g0172	1	382	0.0026	-28	c.450 others(45): Show c.450+1350_450+1377delTACATATATATATATATATATACACACA		TSPAN16	ENSG00000130167.14	transcript	ENST00000590327.6	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
TSPAN18_chr11_44721962_44937423	44745493	TTCAAAGT others(21): Show TTCAAAGTCAGCAAGAGAATCTAAGGGAG	T T	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0018 a0002c0002t0001g0019	2	290	0.0069	-28	c.-24 others(49): Show c.-240+18216_-240+18243delGCAAGAGAATCTAAGGGAGTCAAA GTCA		TSPAN18	ENSG00000157570.12	transcript	ENST00000520358.7	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr11	TogoVar
TSPAN18_chr11_44721962_44937423	44807209	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp2 HG00741.hp2 others(52): Show HG00280.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02129.hp1 HG02148.hp2 HG02257.hp2 HG02293.hp2 HG02559.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG03239.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp1 NA18959.hp2 NA18980.hp2 NA18999.hp1 NA19030.hp1 NA19062.hp2 NA19074.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0006 a0001c0001 a0002c0002 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0029 a0001c0001t0033 a0001c0001t0042 a0001c0001t0077 a0001c0001t0104 a0001c0001t0105 a0001c0001t0109 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0011 a0002c0002t0016 a0002c0002t0019 a0002c0002t0108 a0002c0002t0115 a0004c0006t0005	a0001c0001t0001g0196 a0001c0001t0002g0033 a0001c0001t0003g0013 others(51): Show a0001c0001t0001g0196 a0001c0001t0002g0033 a0001c0001t0003g0013 a0001c0001t0003g0183 a0001c0001t0003g0208 a0001c0001t0003g0218 a0001c0001t0003g0250 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0004g0209 a0001c0001t0006g0011 a0001c0001t0006g0174 a0001c0001t0008g0185 a0001c0001t0009g0001 a0001c0001t0012g0194 a0001c0001t0013g0062 a0001c0001t0019g0271 a0001c0001t0021g0187 a0001c0001t0021g0245 a0001c0001t0022g0173 a0001c0001t0022g0238 a0001c0001t0023g0110 a0001c0001t0025g0035 a0001c0001t0029g0285 a0001c0001t0033g0246 a0001c0001t0042g0032 a0001c0001t0077g0109 a0001c0001t0104g0217 a0001c0001t0105g0204 a0001c0001t0109g0189 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0163 a0002c0002t0001g0172 a0002c0002t0001g0175 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0221 a0002c0002t0001g0223 a0002c0002t0001g0231 a0002c0002t0001g0249 a0002c0002t0001g0259 a0002c0002t0002g0071 a0002c0002t0002g0080 a0002c0002t0003g0243 a0002c0002t0005g0012 a0002c0002t0005g0195 a0002c0002t0011g0006 a0002c0002t0016g0287 a0002c0002t0019g0025 a0002c0002t0108g0161 a0002c0002t0115g0270 a0004c0006t0005g0188	55	290	0.1897	-28	c.-15 others(49): Show c.-153+42700_-153+42727delAAAAAAAAAAAAAAAAAAAAAAAA AGAA		TSPAN18	ENSG00000157570.12	transcript	ENST00000520358.7	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr11	TogoVar
TSPAN9_chr12_3072379_3291559	3226734	GTGTGTGT others(21): Show GTGTGTGTGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	288	0.0035	-28	c.63+ others(45): Show c.63+25480_63+25507delGTGTGTGTGTATATATATATATATATAT		TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3226740	GTGTGTAT others(21): Show GTGTGTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00609.hp1 others(46): Show HG00323.hp1 HG00438.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG02027.hp2 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02523.hp2 HG03239.hp2 HG03491.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 NA18612.hp2 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18957.hp2 NA18966.hp1 NA18975.hp2 NA18979.hp1 NA19000.hp2 NA19005.hp2 NA19011.hp1 NA19065.hp2 NA19066.hp1 NA19084.hp1 NA19084.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0020 a0001c0001t0026 a0001c0001t0035 a0001c0001t0076 a0001c0001t0083 a0001c0001t0089 a0001c0001t0091 a0001c0002t0013 a0001c0002t0100 a0001c0002t0103 a0001c0007t0001 a0001c0008t0007	a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0169 others(46): Show a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0267 a0001c0001t0002g0161 a0001c0001t0003g0026 a0001c0001t0003g0045 a0001c0001t0003g0077 a0001c0001t0003g0082 a0001c0001t0003g0126 a0001c0001t0004g0153 a0001c0001t0004g0164 a0001c0001t0004g0210 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0069 a0001c0001t0006g0139 a0001c0001t0006g0219 a0001c0001t0006g0233 a0001c0001t0006g0234 a0001c0001t0006g0252 a0001c0001t0007g0162 a0001c0001t0007g0251 a0001c0001t0008g0095 a0001c0001t0008g0096 a0001c0001t0008g0128 a0001c0001t0009g0030 a0001c0001t0020g0229 a0001c0001t0026g0028 a0001c0001t0026g0031 a0001c0001t0035g0140 a0001c0001t0076g0220 a0001c0001t0083g0228 a0001c0001t0089g0186 a0001c0001t0091g0155 a0001c0002t0013g0148 a0001c0002t0013g0149 a0001c0002t0013g0156 a0001c0002t0013g0231 a0001c0002t0100g0243 a0001c0002t0103g0223 a0001c0007t0001g0224 a0001c0008t0007g0192	49	288	0.1701	-28	c.63+ others(45): Show c.63+25486_63+25513delGTGTATATATATATATATATATATATAT		TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3226742	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0085 a0001c0001t0008g0085	1	288	0.0035	-28	c.63+ others(45): Show c.63+25488_63+25515delGTATATATATATATATATATATATATAT		TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3235209	AAAAAAAA others(21): Show AAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG03130.hp2 HG01258.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0010 a0001c0004t0058 a0001c0001t0010 a0001c0004t0058	a0001c0001t0010g0041 a0001c0004t0058g0013 a0001c0001t0010g0041 a0001c0004t0058g0013	2	288	0.0069	-28	c.63+ others(45): Show c.63+33955_63+33982delAAAAAAAATATATATATATATATATATA		TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3235211	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG06807.hp2 HG03540.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0010 a0001c0004t0039 a0001c0001t0010 a0001c0004t0039	a0001c0001t0010g0056 a0001c0004t0039g0285 a0001c0001t0010g0056 a0001c0004t0039g0285	2	288	0.0069	-28	c.63+ others(45): Show c.63+33957_63+33984delAAAAAATATATATATATATATATATATA		TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3235213	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02109.hp2 HG02647.hp2 others(1): Show HG01358.hp2 HG02109.hp2 HG02647.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0016 a0001c0001t0040 others(1): Show a0001c0001t0003 a0001c0001t0016 a0001c0001t0040 a0001c0004t0059	a0001c0001t0003g0008 a0001c0001t0016g0005 a0001c0001t0040g0272 others(1): Show a0001c0001t0003g0008 a0001c0001t0016g0005 a0001c0001t0040g0272 a0001c0004t0059g0097	4	288	0.0139	-28	c.63+ others(45): Show c.63+33959_63+33986delAAAATATATATATATATATATATATATA		TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3235215	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03669.hp1 NA18943.hp2 HG02523.hp2 HG03669.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0093 a0001c0001t0001 a0001c0001t0008 a0001c0001t0093	a0001c0001t0001g0175 a0001c0001t0008g0109 a0001c0001t0093g0270 a0001c0001t0001g0175 a0001c0001t0008g0109 a0001c0001t0093g0270	3	288	0.0104	-28	c.63+ others(45): Show c.63+33961_63+33988delAATATATATATATATATATATATATATA		TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3235217	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03688.hp2 HG01109.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0019 a0001c0003t0014 a0001c0001t0019 a0001c0003t0014	a0001c0001t0019g0098 a0001c0003t0014g0182 a0001c0001t0019g0098 a0001c0003t0014g0182	2	288	0.0069	-28	c.63+ others(45): Show c.63+33988_63+34015delATATATATATATATATATATATATATAT		TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPEAR_chr21_44492893_44716572	44503146	AGGAGGCC others(21): Show AGGAGGCCGGCCTCGGTGAGCCCTTGGGT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA19043.hp2 HG03540.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0024 a0001c0004t0010 a0001c0001t0024 a0001c0004t0010	a0001c0001t0024g0285 a0001c0004t0010g0088 a0001c0001t0024g0285 a0001c0004t0010g0088	2	294	0.0068	-28	c.185 others(47): Show c.1856+1606_1856+1633delACCCAAGGGCTCACCGAGGCCGGCCT CC		TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	11/11						chr21	TogoVar
TSPEAR_chr21_44492893_44716572	44503835	GGCCGGCC others(21): Show GGCCGGCCTTGGTGAGCCCTTGGGGGGAA	G G	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG04115.hp2 HG03492.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0281 a0001c0001t0001g0229 a0001c0001t0001g0281	2	294	0.0068	-28	c.185 others(45): Show c.1856+917_1856+944delTTCCCCCCAAGGGCTCACCAAGGCCGGC		TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	11/11						chr21	TogoVar
TSPEAR_chr21_44492893_44716572	44509026	AGTCCCCA others(21): Show AGTCCCCAGGCCATTCTTTCCACAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03041.hp1 HG02738.hp2 HG03041.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0009 a0002c0003t0001 a0001c0001t0009 a0002c0003t0001	a0001c0001t0009g0234 a0002c0003t0001g0248 a0001c0001t0009g0234 a0002c0003t0001g0248	2	294	0.0068	-28	c.175 others(45): Show c.1754+145_1754+172delCTTCCTGTGGAAAGAATGGCCTGGGGAC		TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	10/11						chr21	TogoVar
TSPEAR_chr21_44492893_44716572	44674731	AGTGTGTG others(21): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02809.hp2 HG01884.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0008 a0001c0001t0003 a0001c0002t0008	a0001c0001t0003g0216 a0001c0002t0008g0030 a0001c0001t0003g0216 a0001c0002t0008g0030	2	294	0.0068	-28	c.82+ others(45): Show c.82+36674_82+36701delACACACACACACACACACACACACACAC		TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	1/11						chr21	TogoVar
TSPEAR_chr21_44492893_44716572	44706464	TGCACACA others(21): Show TGCACACACCCACGCGTACACACCCACGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(22): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00741.hp2 HG01074.hp1 HG01106.hp1 HG01168.hp2 HG01175.hp1 HG01255.hp1 HG01258.hp2 HG01433.hp2 HG01517.hp1 HG02602.hp1 HG02622.hp2 HG02647.hp2 HG02896.hp2 HG02976.hp1 HG03195.hp2 HG03516.hp2 HG03579.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0022 a0001c0013t0002	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0061 others(22): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0003g0091 a0001c0001t0003g0218 a0001c0001t0004g0090 a0001c0001t0007g0124 a0001c0001t0022g0094 a0001c0013t0002g0233	25	294	0.0850	-28	c.82+ others(43): Show c.82+4941_82+4968delGCGTGGGTGTGTACGCGTGGGTGTGTGC		TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	1/11						chr21	TogoVar
TSTD1_chr1_161032631_161043964	161039278	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAGAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	392	0.0051	-28	c.-41 others(37): Show c.-417_-390delCTTTTCTTTTTTTTTTTTTTTTTTTTTT		TSTD1	ENSG00000215845.11	transcript	ENST00000423014.3	protein_coding					315		chr1	TogoVar
TSTD2_chr9_97595080_97638368	97597959	GATATGGA others(21): Show GATATGGAAACCCTACCCACACAAGGCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	374	0.0027	-28	c.44 others(39): Show c.4482_*4509delGAGCCTTGTGTGGGTAGGGTTTCCATAT		TSTD2	ENSG00000136925.15	transcript	ENST00000341170.5	protein_coding					2120		chr9	TogoVar
TTBK1_chr6_43238481_43293258	43274721	AGCCCCTG others(21): Show AGCCCCTGAAAATGTCAAGCATCCTTCTC	A A	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0021	1	348	0.0029	-28	c.198 others(47): Show c.1987-8005_1987-7978delGCCCCTGAAAATGTCAAGCATCCTTC TC		TTBK1	ENSG00000146216.14	transcript	ENST00000259750.9	protein_coding	13/14						chr6	TogoVar
TTBK2_chr15_42733730_42925778	42763131	CATATATA others(21): Show CATATATACATACATATATATATATACAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0204 a0001c0001t0048g0204	1	248	0.0040	-28	c.199 others(47): Show c.1999-9912_1999-9885delATGTATATATATATATGTATGTATAT AT		TTBK2	ENSG00000128881.18	transcript	ENST00000267890.11	protein_coding	13/14						chr15	TogoVar
TTBK2_chr15_42733730_42925778	42763168	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19068.hp1 NA19066.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0216 a0001c0001t0006g0217 a0001c0001t0006g0216 a0001c0001t0006g0217	2	248	0.0081	-28	c.199 others(47): Show c.1999-9949_1999-9922delAAAATATATATATATATATATATATA TA		TTBK2	ENSG00000128881.18	transcript	ENST00000267890.11	protein_coding	13/14						chr15	TogoVar
TTBK2_chr15_42733730_42925778	42763176	ATATATAT others(21): Show ATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0205 a0001c0001t0005g0205	1	248	0.0040	-28	c.199 others(47): Show c.1999-9957_1999-9930delAAAAAAAAAAAATATATATATATATA TA		TTBK2	ENSG00000128881.18	transcript	ENST00000267890.11	protein_coding	13/14						chr15	TogoVar
TTC17_chr11_43353920_43499931	43397901	CGTGTGTG others(21): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01168.hp2 HG01433.hp2 others(12): Show HG00099.hp2 HG01168.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp2 HG02040.hp2 HG02080.hp2 HG04199.hp2 HG04204.hp1 NA18944.hp2 NA18964.hp1 NA18974.hp2 NA19010.hp2 NA19063.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008	a0001c0001t0001g0280 a0001c0001t0003g0031 a0001c0001t0003g0032 others(12): Show a0001c0001t0001g0280 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0075 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0146 a0001c0001t0003g0150 a0001c0001t0003g0153 a0001c0001t0003g0162 a0001c0001t0005g0152 a0001c0001t0008g0091	15	298	0.0503	-28	c.919 others(41): Show c.919-50_919-23delGTGTGTGTGTGTGTGTGTGTGTGTGTGT		TTC17	ENSG00000052841.16	transcript	ENST00000039989.9	protein_coding	7/23					INFO_REALIGN_3_PRIME	chr11	TogoVar
TTC17_chr11_43353920_43499931	43401980	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	298	0.0034	-28	c.133 others(45): Show c.1332+446_1332+473delTAAATAAATAAATAAATAAATAAATAAA		TTC17	ENSG00000052841.16	transcript	ENST00000039989.9	protein_coding	10/23					INFO_REALIGN_3_PRIME	chr11	TogoVar
TTC1_chr5_160004139_160070543	160045487	CACACACA others(21): Show CACACACACACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03453.hp2 HG02055.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0365 a0001c0001t0001g0366	2	384	0.0052	-28	c.541 others(45): Show c.541+2325_541+2352delACACACACACACACACACACATACACAC		TTC1	ENSG00000113312.12	transcript	ENST00000231238.10	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
TTC21B_chr2_165868362_165958776	165920745	CTAAATAT others(21): Show CTAAATATTTAAAATATTTTGAAATATTT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0001 a0002c0028t0001	a0002c0028t0001g0372 a0002c0028t0001g0372	1	408	0.0025	-28	c.151 others(47): Show c.1517-1340_1517-1313delAAATATTTCAAAATATTTTAAATATT TA		TTC21B	ENSG00000123607.16	transcript	ENST00000243344.8	protein_coding	12/28						chr2	TogoVar

Search by Variant

Search

Search Results (Total: 7045 hits)