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
TRIM13_chr13_49992042_50023467	50015086	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp1 HG01099.hp2 HG01192.hp2 others(3): Show HG00738.hp1 HG01099.hp2 HG01192.hp2 HG02559.hp2 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0038 a0001c0001t0296 others(1): Show a0001c0001t0037 a0001c0001t0038 a0001c0001t0296 a0001c0001t0305	a0001c0001t0037g0004 a0001c0001t0038g0023 a0001c0001t0296g0222 others(1): Show a0001c0001t0037g0004 a0001c0001t0038g0023 a0001c0001t0296g0222 a0001c0001t0305g0223	6	390	0.0154	-34	c.19 others(45): Show c.1924_*1957delAAAAAAAATATATATATATATATATATATATATA	TRIM13	ENSG00000204977.10	transcript	ENST00000378182.4	protein_coding	2/2	1924	INFO_REALIGN_3_PRIME	chr13	TogoVar
TRIM13_chr13_49992042_50023467	50015088	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0312 a0001c0001t0312	a0001c0001t0312g0004 a0001c0001t0312g0004	1	390	0.0026	-34	c.19 others(45): Show c.1926_*1959delAAAAAATATATATATATATATATATATATATATA	TRIM13	ENSG00000204977.10	transcript	ENST00000378182.4	protein_coding	2/2	1926	INFO_REALIGN_3_PRIME	chr13	TogoVar
TRIM13_chr13_49992042_50023467	50015090	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0311 a0001c0001t0311	a0001c0001t0311g0004 a0001c0001t0311g0004	1	390	0.0026	-34	c.19 others(45): Show c.1928_*1961delAAAATATATATATATATATATATATATATATATA	TRIM13	ENSG00000204977.10	transcript	ENST00000378182.4	protein_coding	2/2	1928	INFO_REALIGN_3_PRIME	chr13	TogoVar
TRIM26_chr6_30179455_30218406	30202374	CGACTGCC others(27): Show CGACTGCCATTATAATAGCACAAGGATCATCAATA	C C	intron_variant intron_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0204 a0002c0004t0001g0204	1	441	0.0023	-34	c.-26 others(53): Show c.-265-1270_-265-1237delTATTGATGATCCTTGTGCTATTATAA TGGCAGTC	TRIM26	ENSG00000234127.9	transcript	ENST00000454678.7	protein_coding	2/9			chr6	TogoVar
TRIM42_chr3_140673064_140706150	140690531	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	410	0.0024	-34	c.186 others(51): Show c.1861-415_1861-382delATATATATATATATATATATATATATAT ATATAT	TRIM42	ENSG00000155890.4	transcript	ENST00000286349.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
TRIM72_chr16_31209119_31236537	31221910	CAGAAGGG others(27): Show CAGAAGGGTGTTGCTGGGAGAAGGGCATTGCTGGG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0027 a0001c0004t0027	a0001c0004t0027g0048 a0001c0004t0027g0048	1	312	0.0032	-34	c.741 others(49): Show c.741-895_741-862delGGGCATTGCTGGGAGAAGGGTGTTGCTGGG AGAA	TRIM72	ENSG00000177238.15	transcript	ENST00000322122.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
TRIO_chr5_14138342_14515204	14511655	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	198	0.0051	-34	c.32 others(45): Show c.3234_*3267delTCTCTCTCTCTCTCTCTCTCTCTATATATATATA	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding		1452		chr5	TogoVar
TRIO_chr5_14138342_14515204	14511661	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0002 a0001c0038t0002	a0001c0038t0002g0131 a0001c0038t0002g0131	1	198	0.0051	-34	c.32 others(45): Show c.3240_*3273delTCTCTCTCTCTCTCTCTATATATATATATATATA	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding		1458		chr5	TogoVar
TRIO_chr5_14138342_14515204	14511663	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTATATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0012 a0001c0023t0001g0012	1	198	0.0051	-34	c.32 others(45): Show c.3242_*3275delTCTCTCTCTCTCTCTATATATATATATATATATA	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding		1460		chr5	TogoVar
TRIO_chr5_14138342_14515204	14511671	CTCTCTCT others(27): Show CTCTCTCTATATATATATATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0013 a0013	a0013c0043 a0013c0043	a0013c0043t0002 a0013c0043t0002	a0013c0043t0002g0077 a0013c0043t0002g0077	1	198	0.0051	-34	c.32 others(45): Show c.3250_*3283delTCTCTCTATATATATATATATATATATATATATA	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding		1468		chr5	TogoVar
TRIP12_chr2_229758837_229927009	229864027	AGAGAGAG others(27): Show AGAGAGAGAGAGAGAGAGAGAGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0254 a0001c0001t0004g0254	1	330	0.0030	-34	c.99- others(49): Show c.99-3530_99-3497delACACACACACACACTCTCTCTCTCTCTCTC TCTC	TRIP12	ENSG00000153827.15	transcript	ENST00000675903.1	protein_coding	2/41			chr2	TogoVar
TRMT9B_chr8_12940673_13034777	13013540	AATATGCA others(27): Show AATATGCAGGGAAACTTGATATTTAATGGAATCCT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0028 a0002c0002t0028	a0002c0002t0028g0293 a0002c0002t0028g0293	1	384	0.0026	-34	c.328 others(49): Show c.328+686_328+719delATGCAGGGAAACTTGATATTTAATGGAATC CTAT	TRMT9B	ENSG00000250305.9	transcript	ENST00000524591.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
TRNT1_chr3_3121940_3154023	3134248	AATCTTGA others(27): Show AATCTTGAAGCTTGATAGTCCCTGCTGTTTTAGGC	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02165.hp2 NA18940.hp2 others(5): Show HG00609.hp2 HG02165.hp2 NA18940.hp2 NA18961.hp2 NA18965.hp1 NA18986.hp1 NA19010.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0013 a0001c0001t0006g0132 a0001c0001t0006g0211 a0001c0001t0006g0013 a0001c0001t0006g0132 a0001c0001t0006g0211	8	402	0.0199	-34	c.149 others(51): Show c.149-3011_149-2978delATCTTGAAGCTTGATAGTCCCTGCTGTT TTAGGC	TRNT1	ENSG00000072756.18	transcript	ENST00000251607.11	protein_coding	2/7			chr3	TogoVar
TRPC4AP_chr20_34997404_35097807	35084610	ATATATGT others(27): Show ATATATGTTTATATGCATATATGTGTATATGTATG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0171 a0001c0005t0002g0171	1	334	0.0030	-34	c.169 others(51): Show c.169-6470_169-6437delCATACATATACACATATATGCATATAAA CATATA	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding	1/18			chr20	TogoVar
TRPC4AP_chr20_34997404_35097807	35084657	CATATATG others(27): Show CATATATGTGTATATGTATATATGTTTATATGCAT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	334	0.0030	-34	c.169 others(51): Show c.169-6517_169-6484delATGCATATAAACATATATACATATACAC ATATAT	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding	1/18			chr20	TogoVar
TRPC5_chrX_111763011_112087776	112082801	GAGAGAGA others(27): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG03516.hp2 HG02257.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0004 a0001c0001t0011	a0001c0001t0004g0018 a0001c0001t0011g0013 a0001c0001t0004g0018 a0001c0001t0011g0013	2	161	0.0124	-34	c.-97 others(43): Show c.-978_-945delTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	TRPC5	ENSG00000072315.4	transcript	ENST00000262839.3	protein_coding		26		chrX	TogoVar
TRPC6_chr11_101446564_101589007	101499699	ATATATAT others(27): Show ATATATATATACACATTTTATATTGTGTATATGTG	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG03516.hp2 HG06807.hp2 HG01993.hp1 HG03516.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0005 a0001c0001t0003 a0001c0003t0005	a0001c0001t0003g0196 a0001c0003t0005g0117 a0001c0003t0005g0118 a0001c0001t0003g0196 a0001c0003t0005g0117 a0001c0003t0005g0118	3	252	0.0119	-34	c.945 others(51): Show c.945+4291_945+4324delCACATATACACAATATAAAATGTGTATA TATATA	TRPC6	ENSG00000137672.13	transcript	ENST00000344327.8	protein_coding	2/12			chr11	TogoVar
TRPM8_chr2_233912373_234024522	233927851	CCTTTCTT others(27): Show CCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG02257.hp1 others(1): Show HG01168.hp1 HG01169.hp2 HG02257.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0003c0011 a0001c0001 a0003c0005 a0003c0011	a0001c0001t0003 a0003c0005t0002 a0003c0011t0006 a0001c0001t0003 a0003c0005t0002 a0003c0011t0006	a0001c0001t0003g0174 a0003c0005t0002g0152 a0003c0011t0006g0303 others(1): Show a0001c0001t0003g0174 a0003c0005t0002g0152 a0003c0011t0006g0303 a0003c0011t0006g0304	4	322	0.0124	-34	c.117 others(51): Show c.117+1208_117+1241delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	TRPM8	ENSG00000144481.17	transcript	ENST00000324695.9	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRPV1_chr17_3560446_3614411	3593081	CGTGTGTG others(27): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0183 a0002c0002t0001g0183	1	392	0.0026	-34	c.-33 others(49): Show c.-33-732_-33-699delACACACACACACACACACACACACACACAC ACAC	TRPV1	ENSG00000196689.13	transcript	ENST00000572705.2	protein_coding	2/16			chr17	TogoVar
TRPV1_chr17_3560446_3614411	3593104	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp2 NA18942.hp1 others(2): Show HG00438.hp2 HG00609.hp2 NA18942.hp1 NA19057.hp2 NA19078.hp2	a0004 a0008 a0012 a0004 a0008 a0012	a0004c0004 a0004c0047 a0008c0005 others(1): Show a0004c0004 a0004c0047 a0008c0005 a0012c0020	a0004c0004t0003 a0004c0047t0005 a0008c0005t0006 others(1): Show a0004c0004t0003 a0004c0047t0005 a0008c0005t0006 a0012c0020t0006	a0004c0004t0003g0252 a0004c0004t0003g0287 a0004c0047t0005g0173 others(2): Show a0004c0004t0003g0252 a0004c0004t0003g0287 a0004c0047t0005g0173 a0008c0005t0006g0214 a0012c0020t0006g0215	5	392	0.0128	-34	c.-33 others(49): Show c.-33-755_-33-722delGACACACACACACACACACACACACACACA CACA	TRPV1	ENSG00000196689.13	transcript	ENST00000572705.2	protein_coding	2/16			chr17	TogoVar
TRPV6_chr7_142866208_142890745	142890231	TACACACA others(27): Show TACACACACCTGCAGACACACACACACCTGCAGAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01884.hp2 HG00642.hp1 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	265	0.0076	-34	c.-46 others(45): Show c.-4629_-4596delGTCTGCAGGTGTGTGTGTGTCTGCAGGTGTGTGT	TRPV6	ENSG00000165125.22	transcript	ENST00000359396.9	protein_coding		4487	WARNING_TRANSCRIPT_NO_START_CODON	chr7	TogoVar
TRPV6_chr7_142866208_142890745	142890651	CACACACA others(27): Show CACACACACACCTGCGCGCACACACACACCTGCAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	265	0.0038	-34	c.-50 others(45): Show c.-5049_-5016delCTGCAGGTGTGTGTGTGCGCGCAGGTGTGTGTGT	TRPV6	ENSG00000165125.22	transcript	ENST00000359396.9	protein_coding		4907	WARNING_TRANSCRIPT_NO_START_CODON	chr7	TogoVar
TSC2_chr16_2042985_2094491	2087923	TCCCTGCA others(27): Show TCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0016 a0016	a0016c0038 a0016c0038	a0016c0038t0003 a0016c0038t0003	a0016c0038t0003g0100 a0016c0038t0003g0100	1	318	0.0031	-34	c.506 others(49): Show c.5068+27_5069-47delCAGGAAAGGTAGGGCCGGGTGGGGCCCTGC AGTG	TSC2	ENSG00000103197.19	transcript	ENST00000219476.9	protein_coding	39/41		INFO_REALIGN_3_PRIME	chr16	TogoVar
TSGA13_chr7_130663643_130691545	130690416	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCCTTCTCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	386	0.0026	-34	c.-43 others(45): Show c.-4339_-4306delGAGAGAGAGAGAGAAGGAAAGAAAGAAAGAAAGA	TSGA13	ENSG00000213265.9	transcript	ENST00000356588.8	protein_coding		3872		chr7	TogoVar
TSHZ2_chr20_52967358_53500330	53190086	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0063 a0001c0002t0002g0063	1	174	0.0058	-34	c.41- others(51): Show c.41-63394_41-63361delATATATATATATATATATATATATATAT ATATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSPAN14_chr10_80449310_80527631	80526493	TGGGGTCC others(27): Show TGGGGTCCTCCAGCCCTTGGCTGGTAAACTCTCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0238 a0001c0002t0005g0238	1	252	0.0040	-34	c.85 others(45): Show c.8518_*8551delGGGGTCCTCCAGCCCTTGGCTGGTAAACTCTCCA	TSPAN14	ENSG00000108219.16	transcript	ENST00000429989.8	protein_coding		3863		chr10	TogoVar
TSPAN15_chr10_69446465_69512666	69455559	CTTTCTTT others(27): Show CTTTCTTTCTTTCTCTTTTCTTTCTTTCTTTCTCT	C C	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0292 a0001c0001t0001g0293	2	340	0.0059	-34	c.96+ others(49): Show c.96+3872_96+3905delTCTTTCTTTCTCTTTTCTTTCTTTCTTTCT CTTT	TSPAN15	ENSG00000099282.10	transcript	ENST00000373290.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
TSPAN9_chr12_3072379_3291559	3226732	GTGTGTGT others(27): Show GTGTGTGTGTGTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01891.hp1 HG02055.hp2 others(14): Show HG01358.hp2 HG01891.hp1 HG02055.hp2 HG02074.hp2 HG02155.hp2 HG02523.hp1 HG02630.hp1 HG02818.hp1 HG02896.hp1 HG02970.hp1 HG03098.hp1 NA18522.hp1 NA18949.hp1 NA18950.hp2 NA18962.hp1 NA19011.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 others(13): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0029 a0001c0001t0055 a0001c0001t0070 a0001c0001t0084 a0001c0002t0018 a0001c0002t0032 a0001c0004t0059	a0001c0001t0004g0283 a0001c0001t0006g0202 a0001c0001t0006g0244 others(14): Show a0001c0001t0004g0283 a0001c0001t0006g0202 a0001c0001t0006g0244 a0001c0001t0009g0004 a0001c0001t0011g0218 a0001c0001t0012g0046 a0001c0001t0017g0119 a0001c0001t0024g0277 a0001c0001t0025g0076 a0001c0001t0027g0054 a0001c0001t0029g0078 a0001c0001t0055g0079 a0001c0001t0070g0048 a0001c0001t0084g0147 a0001c0002t0018g0100 a0001c0002t0032g0059 a0001c0004t0059g0097	17	288	0.0590	-34	c.63+ others(51): Show c.63+25478_63+25511delGTGTGTGTGTGTATATATATATATATAT ATATAT	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3235211	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0099 a0001c0002t0099	a0001c0002t0099g0227 a0001c0002t0099g0227	1	288	0.0035	-34	c.63+ others(51): Show c.63+33957_63+33990delAAAAAATATATATATATATATATATATA TATATA	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3235213	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0190 a0001c0002t0036g0190	1	288	0.0035	-34	c.63+ others(51): Show c.63+33959_63+33992delAAAATATATATATATATATATATATATA TATATA	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3235215	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0113 a0001c0001t0009g0113	1	288	0.0035	-34	c.63+ others(51): Show c.63+33961_63+33994delAATATATATATATATATATATATATATA TATATA	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPEAR_chr21_44492893_44716572	44701718	GGTAAAGC others(27): Show GGTAAAGCTCACTCACCTGCCACTCCCCTCCGGCT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00544.hp1 others(58): Show HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01168.hp1 HG01192.hp2 HG01255.hp2 HG01516.hp1 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.hp1 HG02080.hp2 HG02155.hp2 HG02165.hp2 HG02293.hp1 HG02300.hp1 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02886.hp2 HG02895.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03453.hp1 HG03540.hp2 HG03654.hp1 HG03834.hp2 HG04184.hp2 HG06807.hp2 NA18948.hp1 NA18949.hp2 NA18971.hp2 NA18975.hp1 NA18986.hp2 NA18990.hp2 NA19070.hp2 NA19077.hp1 NA19088.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0002t0008 a0001c0004t0010 a0001c0006t0023 a0002c0003t0001	a0001c0001t0001g0017 a0001c0001t0001g0034 a0001c0001t0001g0051 others(58): Show a0001c0001t0001g0017 a0001c0001t0001g0034 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0220 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0280 a0001c0001t0001g0290 a0001c0001t0003g0134 a0001c0001t0003g0216 a0001c0001t0004g0033 a0001c0001t0005g0125 a0001c0001t0009g0149 a0001c0001t0014g0067 a0001c0001t0015g0152 a0001c0001t0018g0135 a0001c0002t0008g0215 a0001c0004t0010g0088 a0001c0004t0010g0148 a0001c0006t0023g0214 a0002c0003t0001g0127	61	294	0.2075	-34	c.82+ others(49): Show c.82+9681_82+9714delAGCCGGAGGGGAGTGGCAGGTGAGTGAGCT TTAC	TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	1/11			chr21	TogoVar
TSTD3_chr6_99516049_99538185	99535901	GTATATAC others(27): Show GTATATACATATATATATATATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	436	0.0023	-34	c.41 others(45): Show c.4182_*4215delTATATACATATATATATATATATATATATATATA	TSTD3	ENSG00000279170.3	transcript	ENST00000452647.3	protein_coding		2717		chr6	TogoVar
TST_chr22_37005865_37024447	37015443	TTCACGAA others(27): Show TTCACGAACAACAGTTAGCGGTGAAGGCACTAGCC	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	436	0.0023	-34	c.595 others(51): Show c.595+2661_595+2694delGGCTAGTGCCTTCACCGCTAACTGTTGT TCGTGA	TST	ENSG00000128311.14	transcript	ENST00000249042.8	protein_coding	2/2			chr22	TogoVar
TTBK2_chr15_42733730_42925778	42763172	ATATATAT others(27): Show ATATATATATATATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0231 a0001c0001t0005g0231	1	248	0.0040	-34	c.199 others(53): Show c.1999-9959_1999-9926delAAAAAAAAAAAAAATATATATATATA TATATATA	TTBK2	ENSG00000128881.18	transcript	ENST00000267890.11	protein_coding	13/14			chr15	TogoVar
TTC17_chr11_43353920_43499931	43434168	GACACACA others(27): Show GACACACACACACACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	298	0.0034	-34	c.225 others(53): Show c.2252-9126_2252-9093delACACACACACACACACACACACACAC ACACACAC	TTC17	ENSG00000052841.16	transcript	ENST00000039989.9	protein_coding	16/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TTC28_chr22_27973014_28684840	28591034	CACACACA others(27): Show CACACACATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03225.hp2 HG06807.hp2 others(2): Show HG01255.hp1 HG03225.hp2 HG06807.hp2 NA18522.hp1 NA19240.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0012 a0005c0028 a0001c0001 a0001c0012 a0005c0028	a0001c0001t0008 a0001c0001t0062 a0001c0012t0005 others(2): Show a0001c0001t0008 a0001c0001t0062 a0001c0012t0005 a0001c0012t0014 a0005c0028t0023	a0001c0001t0008g0145 a0001c0001t0062g0144 a0001c0012t0005g0146 others(2): Show a0001c0001t0008g0145 a0001c0001t0062g0144 a0001c0012t0005g0146 a0001c0012t0014g0147 a0005c0028t0023g0133	5	196	0.0255	-34	c.381 others(53): Show c.381+38484_381+38517delATATATATATATATATATATATATAT ATGTGTGT	TTC28	ENSG00000100154.15	transcript	ENST00000397906.7	protein_coding	2/22			chr22	TogoVar
TTC28_chr22_27973014_28684840	28591036	CACACATA others(27): Show CACACATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0169 a0001c0015t0002g0169	1	196	0.0051	-34	c.381 others(53): Show c.381+38482_381+38515delATATATATATATATATATATATATAT ATATGTGT	TTC28	ENSG00000100154.15	transcript	ENST00000397906.7	protein_coding	2/22			chr22	TogoVar
TTC29_chr4_146701617_146950864	146728781	ATGTGTAT others(27): Show ATGTGTATATATACGTATATATACACATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03710.hp1 NA18989.hp1 HG02257.hp2 HG03710.hp1 NA18989.hp1	a0003 a0003	a0003c0003 a0003c0008 a0003c0003 a0003c0008	a0003c0003t0001 a0003c0008t0001 a0003c0003t0001 a0003c0008t0001	a0003c0003t0001g0063 a0003c0003t0001g0077 a0003c0008t0001g0144 a0003c0003t0001g0063 a0003c0003t0001g0077 a0003c0008t0001g0144	3	292	0.0103	-34	c.133 others(55): Show c.1331-21264_1331-21231delCATATATATGTGTATATATACGTA TATATACACA	TTC29	ENSG00000137473.19	transcript	ENST00000325106.9	protein_coding	11/12			chr4	TogoVar
TTC39C_chr18_24009754_24140600	24023933	CATATATA others(27): Show CATATATATATATGCATGTATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02258.hp1 others(1): Show HG01167.hp2 HG01169.hp2 HG02258.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0019 others(1): Show a0001c0001t0001 a0001c0001t0016 a0001c0001t0019 a0001c0001t0026	a0001c0001t0001g0324 a0001c0001t0016g0012 a0001c0001t0019g0116 others(1): Show a0001c0001t0001g0324 a0001c0001t0016g0012 a0001c0001t0019g0116 a0001c0001t0026g0013	4	328	0.0122	-34	c.167 others(51): Show c.167+8908_167+8941delGCATGTATATATATATATATATATATAT ATATAT	TTC39C	ENSG00000168234.13	transcript	ENST00000317571.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr18	TogoVar
TTC39C_chr18_24009754_24140600	24109096	TGGGAGGC others(27): Show TGGGAGGCCAACACAGGAGGACTGCCTGAGGCCAG	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0162 a0001c0001t0053g0162	1	328	0.0031	-34	c.985 others(51): Show c.985-5456_985-5423delGGAGGCCAACACAGGAGGACTGCCTGAG GCCAGG	TTC39C	ENSG00000168234.13	transcript	ENST00000317571.8	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr18	TogoVar
TTC4_chr1_54710861_54747657	54736218	GAGAGAAG others(27): Show GAGAGAAGAGGAGAGGAGAGAGAAGAGAGGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03139.hp2 HG01891.hp2 HG03139.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0233 a0001c0004t0003g0245 a0001c0004t0003g0233 a0001c0004t0003g0245	2	398	0.0050	-34	c.979 others(51): Show c.979-1363_979-1330delAGAGAAGAGGAGAGGAGAGAGAAGAGAG GAGAGA	TTC4	ENSG00000243725.7	transcript	ENST00000371281.4	protein_coding	8/9			chr1	TogoVar
TTC5_chr14_20281227_20310951	20309294	TCCCTCTC others(27): Show TCCCTCTCCCTCTCCCCTCTCCCCTCTCCCCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03710.hp2 HG03017.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0027 a0001c0002t0003g0027	2	416	0.0048	-34	c.-33 others(45): Show c.-3391_-3358delGAGAGGGGAGAGGGGAGAGGGGAGAGGGAGAGGG	TTC5	ENSG00000136319.12	transcript	ENST00000258821.8	protein_coding		3344		chr14	TogoVar
TTC6_chr14_37590629_37847717	37651401	ATATATAT others(27): Show ATATATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0102 a0004c0004t0003g0102	1	220	0.0046	-34	c.939 others(53): Show c.939+28400_939+28433delATATATATATATATATATATATATTT TTTTTTTT	TTC6	ENSG00000139865.17	transcript	ENST00000553443.6	protein_coding	3/32		INFO_REALIGN_3_PRIME	chr14	TogoVar
TTC6_chr14_37590629_37847717	37725308	GTGTGTAT others(27): Show GTGTGTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0028 a0028	a0028c0039 a0028c0039	a0028c0039t0012 a0028c0039t0012	a0028c0039t0012g0134 a0028c0039t0012g0134	1	220	0.0046	-34	c.181 others(51): Show c.1818+308_1818+341delGTGTATATATATATATATATATATATAT ATATAT	TTC6	ENSG00000139865.17	transcript	ENST00000553443.6	protein_coding	9/32		INFO_REALIGN_3_PRIME	chr14	TogoVar
TTC8_chr14_88819651_88882988	88862541	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02723.hp2 HG03453.hp1 HG02451.hp1 HG02723.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0034 a0001c0001t0005g0009 a0001c0001t0005g0034	3	400	0.0075	-34	c.909 others(51): Show c.909+1232_909+1265delATATATATATATATATATATATATATAT ATATAT	TTC8	ENSG00000165533.19	transcript	ENST00000380656.7	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
TTF1_chr9_132370548_132411840	132377396	TGAGTGCA others(27): Show TGAGTGCATGTGGTGTGTGTGAGTGCATGCATGTG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02622.hp1 HG03579.hp1 others(1): Show HG02280.hp2 HG02622.hp1 HG03579.hp1 NA20300.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0038 a0001c0010t0002g0139 a0001c0010t0002g0140 a0001c0010t0002g0038 a0001c0010t0002g0139 a0001c0010t0002g0140	4	400	0.0100	-34	c.246 others(53): Show c.2465-1262_2465-1229delCACATGCATGCACTCACACACACCAC ATGCACTC	TTF1	ENSG00000125482.13	transcript	ENST00000334270.3	protein_coding	10/10			chr9	TogoVar
TTI1_chr20_37978021_38038456	37981510	TCTTTTCT others(27): Show TCTTTTCTTTTTTTTTTTCTTTTTGAGACGAAGTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	396	0.0025	-34	c.19 others(45): Show c.1912_*1945delTACTTCGTCTCAAAAAGAAAAAAAAAAAGAAAAG	TTI1	ENSG00000101407.13	transcript	ENST00000373447.8	protein_coding		1510		chr20	TogoVar
TTLL12_chr22_43161622_43192134	43185247	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA19089.hp1 NA18948.hp2 NA19089.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0088 a0002c0004t0002g0089 a0002c0004t0002g0088 a0002c0004t0002g0089	2	394	0.0051	-34	c.177 others(51): Show c.177+1612_177+1645delTATATATATATATATATATATATATATA TATATA	TTLL12	ENSG00000100304.13	transcript	ENST00000216129.7	protein_coding	1/13			chr22	TogoVar
TTLL6_chr17_48757234_48822229	48802064	AAAAGAAA others(27): Show AAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0289 a0001c0001t0003g0289	1	330	0.0030	-34	c.362 others(49): Show c.362-455_362-422delCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT CTTT	TTLL6	ENSG00000170703.16	transcript	ENST00000393382.8	protein_coding	3/15			chr17	TogoVar

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