Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

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
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18983.hp1 NA18987.hp1 NA18966.hp2 NA18983.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0218 a0001c0001t0001g0043 a0001c0001t0001g0218	3	426	0.0070	37	c.236 others(52): Show c.236-828_236-827insAAAAAAAAAAAAATATATATATATATATAT ATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYN3_chr22_32502820_33063381	32572243	C C	CTCCTTCC others(30): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00673.hp1 HG00741.hp2 others(15): Show HG00323.hp2 HG00673.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01175.hp2 HG02055.hp2 HG02257.hp2 HG02258.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02976.hp1 HG03239.hp1 HG03688.hp2 HG03927.hp1 NA18957.hp2 NA18984.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0030 a0001c0001t0054 a0001c0001t0059 a0001c0001t0070 a0001c0004t0017 a0002c0002t0004 a0002c0002t0051	a0001c0001t0001g0113 a0001c0001t0001g0162 a0001c0001t0002g0018 others(15): Show a0001c0001t0001g0113 a0001c0001t0001g0162 a0001c0001t0002g0018 a0001c0001t0002g0057 a0001c0001t0003g0016 a0001c0001t0003g0128 a0001c0001t0007g0079 a0001c0001t0008g0047 a0001c0001t0008g0133 a0001c0001t0009g0170 a0001c0001t0015g0043 a0001c0001t0030g0015 a0001c0001t0054g0002 a0001c0001t0059g0078 a0001c0001t0070g0006 a0001c0004t0017g0095 a0002c0002t0004g0159 a0002c0002t0051g0142	18	184	0.0978	37	c.774 others(56): Show c.774+24430_774+24431insAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGA	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	7/13			chr22	TogoVar
SYNGR3_chr16_1984970_1999275	1995769	T T	TCCCCACT others(30): Show TCCCCACTTCTCACTGCTACCTTTTGCAGTTACATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	37	c.26 others(48): Show c.2697_*2698insCCCCACTTCTCACTGCTACCTTTTGCAGTTACAT CCC	SYNGR3	ENSG00000127561.16	transcript	ENST00000248121.7	protein_coding		1495		chr16	TogoVar
SYNM_chr15_99100080_99140593	99104555	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 NA18949.hp2 NA18951.hp1 others(2): Show HG03239.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2	a0003 a0042 a0003 a0042	a0003c0003 a0003c0024 a0042c0054 a0003c0003 a0003c0024 a0042c0054	a0003c0003t0003 a0003c0024t0003 a0042c0054t0003 a0003c0003t0003 a0003c0024t0003 a0042c0054t0003	a0003c0003t0003g0003 a0003c0003t0003g0083 a0003c0003t0003g0197 others(2): Show a0003c0003t0003g0003 a0003c0003t0003g0083 a0003c0003t0003g0197 a0003c0024t0003g0087 a0042c0054t0003g0061	5	420	0.0119	37	c.-64 others(46): Show c.-645_-644insTATATATATATATATATATATATATATTTTTTTTTT T	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		524		chr15	TogoVar
SYNM_chr15_99100080_99140593	99104555	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01993.hp2 NA18948.hp1 others(1): Show HG01975.hp2 HG01993.hp2 NA18948.hp1 NA19080.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0007 a0003c0003 a0007c0011 a0001c0007 a0003c0003 a0007c0011	a0001c0007t0001 a0003c0003t0003 a0007c0011t0004 a0001c0007t0001 a0003c0003t0003 a0007c0011t0004	a0001c0007t0001g0082 a0003c0003t0003g0095 a0007c0011t0004g0010 others(1): Show a0001c0007t0001g0082 a0003c0003t0003g0095 a0007c0011t0004g0010 a0007c0011t0004g0057	4	420	0.0095	37	c.-64 others(46): Show c.-645_-644insTATATATATATATATATATATATATTTTTTTTTTTT T	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		524		chr15	TogoVar
SYNM_chr15_99100080_99140593	99104555	A A	ATATATAT others(30): Show ATATATATATATATATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp1 NA19058.hp1 NA19001.hp1 NA19058.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0003 a0004c0004t0005 a0003c0003t0003 a0004c0004t0005	a0003c0003t0003g0003 a0004c0004t0005g0181 a0003c0003t0003g0003 a0004c0004t0005g0181	2	420	0.0048	37	c.-64 others(46): Show c.-645_-644insTATATATATATATATATATATATTTTTTTTTTTTTT T	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		524		chr15	TogoVar
SYNPO2_chr4_118883854_119066247	118890697	T T	TCTCTCTC others(30): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03490.hp1 NA18957.hp1 HG03490.hp1 NA18957.hp1	a0003 a0004 a0003 a0004	a0003c0002 a0004c0007 a0003c0002 a0004c0007	a0003c0002t0002 a0004c0007t0019 a0003c0002t0002 a0004c0007t0019	a0003c0002t0002g0052 a0004c0007t0019g0053 a0003c0002t0002g0052 a0004c0007t0019g0053	2	310	0.0065	37	c.105 others(54): Show c.105+1556_105+1557insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTC	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4			chr4	TogoVar
SYT3_chr19_50616977_50644881	50617809	T T	TAACCATG others(30): Show TAACCATGGGTAACCAGCCCTGGGTCAGGAACTAGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0145 a0001c0005t0001g0145	1	388	0.0026	37	c.46 others(48): Show c.4675_*4676insGGTCTAGTTCCTGACCCAGGGCTGGTTACCCATG GTT	SYT3	ENSG00000213023.11	transcript	ENST00000600079.6	protein_coding		4167		chr19	TogoVar
SYT3_chr19_50616977_50644881	50625795	T T	TCCTCCTC others(30): Show TCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCTGGCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	388	0.0026	37	c.140 others(53): Show c.1402+65_1402+101dupGGCCAGGGGCCTGGACTCCTGGGTCTGAG GGAGGAGG	SYT3	ENSG00000213023.11	transcript	ENST00000600079.6	protein_coding	7/10			chr19	TogoVar
SYT3_chr19_50616977_50644881	50629583	A A	AGCCCCCA others(30): Show AGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18906.hp2 HG02965.hp1 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0013 a0001c0004 a0001c0013	a0001c0004t0001 a0001c0013t0003 a0001c0004t0001 a0001c0013t0003	a0001c0004t0001g0158 a0001c0013t0003g0224 a0001c0004t0001g0158 a0001c0013t0003g0224	2	388	0.0052	37	c.106 others(53): Show c.1063-108_1063-72dupCTGGACTCCTGGGTCTGAGGGAGGAGGGG CTGGGGGC	SYT3	ENSG00000213023.11	transcript	ENST00000600079.6	protein_coding	5/10			chr19	TogoVar
SYT3_chr19_50616977_50644881	50629611	A A	AGGAGTCC others(30): Show AGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00733.hp1 others(35): Show HG00280.hp2 HG00438.hp1 HG00733.hp1 HG01167.hp2 HG01169.hp2 HG01257.hp1 HG01258.hp1 HG01516.hp2 HG02027.hp2 HG02074.hp2 HG02155.hp1 HG02738.hp1 HG02922.hp2 HG03491.hp2 HG03669.hp2 HG04115.hp2 HG04228.hp2 NA18747.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18962.hp2 NA18968.hp2 NA18990.hp2 NA19011.hp1 NA19030.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19088.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0004 a0001c0009 others(1): Show a0001c0003 a0001c0004 a0001c0009 a0003c0015	a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 others(3): Show a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0001c0004t0002 a0001c0009t0003 a0003c0015t0003	a0001c0003t0001g0115 a0001c0003t0001g0157 a0001c0003t0003g0022 others(30): Show a0001c0003t0001g0115 a0001c0003t0001g0157 a0001c0003t0003g0022 a0001c0003t0003g0023 a0001c0003t0003g0049 a0001c0003t0003g0225 a0001c0003t0003g0226 a0001c0003t0003g0227 a0001c0003t0003g0232 a0001c0003t0003g0233 a0001c0003t0003g0234 a0001c0003t0003g0235 a0001c0003t0003g0236 a0001c0003t0003g0237 a0001c0003t0003g0238 a0001c0003t0003g0239 a0001c0003t0003g0240 a0001c0003t0003g0241 a0001c0003t0003g0243 a0001c0003t0003g0245 a0001c0003t0003g0246 a0001c0003t0003g0247 a0001c0003t0003g0248 a0001c0003t0003g0249 a0001c0003t0003g0250 a0001c0003t0003g0251 a0001c0003t0003g0255 a0001c0004t0001g0191 a0001c0004t0001g0210 a0001c0004t0002g0072 a0001c0009t0003g0231 a0001c0009t0003g0252 a0003c0015t0003g0254	38	388	0.0979	37	c.106 others(54): Show c.1062+136_1063-100dupCGGGTCTGAGGGAGGAGGGGCTGGGGGC CTGGACTCC	SYT3	ENSG00000213023.11	transcript	ENST00000600079.6	protein_coding	5/10			chr19	TogoVar
SYT5_chr19_55166196_55185289	55170873	T T	TCTCTCTC others(30): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0015 a0001c0002t0002g0015	1	410	0.0024	37	c.26 others(48): Show c.2610_*2611insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAG	SYT5	ENSG00000129990.15	transcript	ENST00000354308.8	protein_coding		322		chr19	TogoVar
TAAR1_chr6_132638312_132664182	132654728	T T	TATAATAA others(30): Show TATAATAAAAAAATTAAGAAAATAATATTAAGAAAGTA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0264 a0001c0001t0006g0264	1	436	0.0023	37	c.-12 others(56): Show c.-127+4401_-127+4402insTACTTTCTTAATATTATTTTCTTAAT TTTTTTATTAT	TAAR1	ENSG00000146399.3	transcript	ENST00000275216.3	protein_coding	1/1			chr6	TogoVar
TACR1_chr2_75041463_75204520	75094859	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	282	0.0036	37	c.584 others(56): Show c.584+25714_584+25715insATATATATATATATATATATATATAT ATATATATATA	TACR1	ENSG00000115353.11	transcript	ENST00000305249.10	protein_coding	2/4			chr2	TogoVar
TACR1_chr2_75041463_75204520	75094859	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	282	0.0036	37	c.584 others(56): Show c.584+25714_584+25715insAAAAAAATATATATATATATATATAT ATATATATATA	TACR1	ENSG00000115353.11	transcript	ENST00000305249.10	protein_coding	2/4			chr2	TogoVar
TACR1_chr2_75041463_75204520	75094859	A A	ATATATAT others(30): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0001 a0001c0001t0015g0001	1	282	0.0036	37	c.584 others(56): Show c.584+25714_584+25715insAAAAAAAAAAAAAAAAATATATATAT ATATATATATA	TACR1	ENSG00000115353.11	transcript	ENST00000305249.10	protein_coding	2/4			chr2	TogoVar
TAF4_chr20_61969798_62070881	62055262	A A	AGTCCTGC others(30): Show AGTCCTGCAAGACGATCGATTCACGCTGCCTGCGGGCG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00438.hp1 others(67): Show HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG02027.hp2 HG02040.hp1 HG02080.hp2 HG02083.hp2 HG02145.hp1 HG02155.hp1 HG02559.hp1 HG02602.hp2 HG02683.hp1 HG02738.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG03239.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18522.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18949.hp2 NA18950.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18999.hp2 NA19002.hp1 NA19007.hp1 NA19043.hp2 NA19066.hp2 NA19067.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19091.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0007 a0009 a0011 a0018	a0001c0001 a0001c0003 a0001c0004 others(9): Show a0001c0001 a0001c0003 a0001c0004 a0001c0013 a0002c0006 a0002c0031 a0003c0007 a0003c0036 a0007c0016 a0009c0034 a0011c0033 a0018c0018	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0004t0007 a0001c0013t0001 a0002c0006t0001 a0002c0006t0011 a0002c0031t0001 a0003c0007t0001 a0003c0036t0001 a0007c0016t0001 a0009c0034t0001 a0011c0033t0001 a0018c0018t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 others(67): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0108 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0003g0159 a0001c0001t0003g0161 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0004t0007g0193 a0001c0013t0001g0312 a0001c0013t0001g0313 a0001c0013t0001g0314 a0002c0006t0001g0293 a0002c0006t0001g0294 a0002c0006t0001g0295 a0002c0006t0001g0297 a0002c0006t0001g0298 a0002c0006t0001g0299 a0002c0006t0001g0301 a0002c0006t0011g0300 a0002c0031t0001g0296 a0003c0007t0001g0014 a0003c0007t0001g0015 a0003c0007t0001g0016 a0003c0007t0001g0017 a0003c0007t0001g0018 a0003c0036t0001g0311 a0007c0016t0001g0302 a0007c0016t0001g0303 a0009c0034t0001g0306 a0011c0033t0001g0305 a0018c0018t0001g0009	70	314	0.2229	37	c.136 others(56): Show c.1360+9152_1360+9188dupCGCCCGCAGGCAGCGTGAATCGATCG TCTTGCAGGAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	62055274	C C	CGATCGAT others(30): Show CGATCGATTCACGCTGCCTGCGGGCGGTCCTGCAAGAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	314	0.0032	37	c.136 others(56): Show c.1360+9176_1360+9177insATCTTGCAGGACCGCCCGCAGGCAGC GTGAATCGATC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	62055279	G G	GATTCACG others(30): Show GATTCACGCTGCCTGCGGGCGGTCCTGCAAGACGATCA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01978.hp2 HG02273.hp2 others(1): Show HG01258.hp2 HG01978.hp2 HG02273.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 others(1): Show a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0173	4	314	0.0127	37	c.136 others(56): Show c.1360+9171_1360+9172insTGATCGTCTTGCAGGACCGCCCGCAG GCAGCGTGAAT	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	62055299	G G	GGTCCTGC others(30): Show GGTCCTGCAAGACGATCGATTCACGCTGCCTGCGGGCA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	314	0.0032	37	c.136 others(56): Show c.1360+9151_1360+9152insTGCCCGCAGGCAGCGTGAATCGATCG TCTTGCAGGAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TAMALIN_chr12_52001946_52020889	52014089	G G	GTTTCCTG others(30): Show GTTTCCTGCTAGCTTGTGACAGTGGGGTGGGGACTGTC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	380	0.0026	37	c.616 others(49): Show c.616-44_616-8dupTTCCTGCTAGCTTGTGACAGTGGGGTGGGGACT GTCT	TAMALIN	ENSG00000161835.11	transcript	ENST00000293662.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TANC1_chr2_158963640_159237659	159104981	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0041 a0003c0003t0001g0041	1	258	0.0039	37	c.259 others(54): Show c.259+7178_259+7179insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	TANC1	ENSG00000115183.15	transcript	ENST00000263635.8	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
TANC2_chr17_62961235_63432703	63055988	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	266	0.0038	37	c.68- others(54): Show c.68-17955_68-17954insTATATATATATATATATATATATATATA TATATATAT	TANC2	ENSG00000170921.16	transcript	ENST00000689528.1	protein_coding	2/27			chr17	TogoVar
TANC2_chr17_62961235_63432703	63055990	A A	AAATATAT others(30): Show AAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0160 a0001c0002t0023g0160	1	266	0.0038	37	c.68- others(54): Show c.68-17952_68-17951insATATATATATATATATATATATATATAT ATATATATA	TANC2	ENSG00000170921.16	transcript	ENST00000689528.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
TAOK1_chr17_29385363_29556903	29468135	A A	ATTTTTTT others(30): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02280.hp1 HG03239.hp1 HG01943.hp2 HG02280.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014	a0001c0001t0007g0261 a0001c0001t0013g0270 a0001c0001t0014g0265 a0001c0001t0007g0261 a0001c0001t0013g0270 a0001c0001t0014g0265	3	326	0.0092	37	c.204 others(52): Show c.204+936_204+937insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	TAOK1	ENSG00000160551.12	transcript	ENST00000261716.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
TAOK3_chr12_118144801_118377907	118370049	T T	TATTCTAG others(30): Show TATTCTAGTAGAGACGGGGTTTCATCATGTTGGCCAGG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02818.hp1 HG02922.hp2 others(3): Show HG02809.hp2 HG02818.hp1 HG02922.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0006 a0004c0007t0006 a0001c0001t0006 a0004c0007t0006	a0001c0001t0006g0308 a0001c0001t0006g0309 a0001c0001t0006g0310 others(3): Show a0001c0001t0006g0308 a0001c0001t0006g0309 a0001c0001t0006g0310 a0001c0001t0006g0311 a0001c0001t0006g0312 a0004c0007t0006g0313	6	314	0.0191	37	c.-19 others(56): Show c.-194+2562_-194+2598dupCCTGGCCAACATGATGAAACCCCGTC TCTACTAGAAT	TAOK3	ENSG00000135090.14	transcript	ENST00000392533.8	protein_coding	1/20			chr12	TogoVar
TAS2R1_chr5_9622347_9635351	9633285	G G	GTATATAT others(30): Show GTATATATTATATATATATATATATTTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 NA18906.hp1 NA19240.hp1 HG02257.hp2 NA18906.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0013 a0002c0002t0002 a0002c0002t0003 a0002c0002t0013	a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0013g0000 a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0013g0000	3	458	0.0066	37	c.-32 others(48): Show c.-3254_-3253insTATATATATATAAATATATATATATATATAATAT ATA	TAS2R1	ENSG00000169777.7	transcript	ENST00000382492.4	protein_coding		2935		chr5	TogoVar
TAT_chr16_71560660_71582092	71579082	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	372	0.0027	37	c.-20 others(48): Show c.-2087_-2086insATATATATATATATATATATATATATATATATAT ATA	TAT	ENSG00000198650.11	transcript	ENST00000355962.5	protein_coding		1991		chr16	TogoVar
TAT_chr16_71560660_71582092	71579084	A A	AAAAAAAA others(30): Show AAAAAAAAATATATATATATATATATATATATATGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 NA18962.hp2 HG02074.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0081 a0001c0001t0007g0035 a0001c0001t0001g0081 a0001c0001t0007g0035	2	372	0.0054	37	c.-20 others(48): Show c.-2089_-2088insATACATATATATATATATATATATATATATTTTT TTT	TAT	ENSG00000198650.11	transcript	ENST00000355962.5	protein_coding		1993		chr16	TogoVar
TAT_chr16_71560660_71582092	71579084	A A	AAAAAAAA others(30): Show AAAAAAAAATATATATATATATATATATATATGTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG03669.hp1 HG01993.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	372	0.0054	37	c.-20 others(48): Show c.-2089_-2088insATATACATATATATATATATATATATATATTTTT TTT	TAT	ENSG00000198650.11	transcript	ENST00000355962.5	protein_coding		1993		chr16	TogoVar
TBC1D14_chr4_6904826_7038114	6977077	C C	CTCCTCTC others(30): Show CTCCTCTCCCTCTCCCCACGGTCTCCCTCTCCCCACGG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	1	304	0.0033	37	c.843 others(54): Show c.843+9655_843+9656insCTCTCCCTCTCCCCACGGTCTCCCTCTC CCCACGGTC	TBC1D14	ENSG00000132405.19	transcript	ENST00000409757.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D15_chr12_71834759_71929313	71887196	G G	GACTACTA others(30): Show GACTACTATTTTTACTTGATCAACTATCAAGTTGATCA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG00609.hp1 others(51): Show HG00423.hp2 HG00597.hp1 HG00609.hp1 HG01109.hp1 HG01175.hp2 HG01192.hp1 HG01358.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01978.hp1 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02080.hp1 HG02129.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02293.hp1 HG02300.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02809.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03654.hp1 HG04184.hp2 HG06807.hp1 NA18612.hp1 NA18946.hp1 NA18954.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18975.hp2 NA18984.hp1 NA18985.hp1 NA19004.hp1 NA19006.hp1 NA19010.hp1 NA19012.hp2 NA19072.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp2 NA19084.hp2 NA19088.hp1 NA20752.hp1 NA21309.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0009 a0004c0014 others(1): Show a0001c0001 a0001c0009 a0004c0014 a0007c0010	a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 others(3): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 a0001c0009t0002 a0004c0014t0002 a0007c0010t0002	a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 others(49): Show a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0335 a0001c0001t0007g0159 a0001c0001t0011g0124 a0001c0009t0002g0115 a0001c0009t0002g0133 a0004c0014t0002g0336 a0007c0010t0002g0009	54	364	0.1484	37	c.554 others(54): Show c.554+2205_554+2241dupGTTGATCAACTACTATTTTTACTTGATC AACTATCAA	TBC1D15	ENSG00000121749.16	transcript	ENST00000485960.7	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TBC1D15_chr12_71834759_71929313	71887237	A A	ACTATTTT others(30): Show ACTATTTTTACTTGATCAACTATCAAGTTGATCAACTG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03098.hp2 HG03453.hp2 HG02970.hp2 HG03098.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0152 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0152	3	364	0.0082	37	c.554 others(54): Show c.554+2241_554+2242insGTTGATCAACTGCTATTTTTACTTGATC AACTATCAA	TBC1D15	ENSG00000121749.16	transcript	ENST00000485960.7	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
TBC1D16_chr17_79927343_80040872	79929965	T T	TCTCCTCC others(30): Show TCTCCTCCCCTCCTCTCCCCTCCTCTCCCCTCTCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0299 a0001c0001t0029g0299	1	334	0.0030	37	c.10 others(50): Show c.10893_*10894insGGAGGAGAGGGGAGAGGAGGGGAGAGGAGGGG AGGAG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2377		chr17	TogoVar
TBC1D16_chr17_79927343_80040872	80036701	G G	GAGAGTTG others(30): Show GAGAGTTGGGGAGTGGTCAGAGCAGCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0257 a0001c0001t0011g0257	1	334	0.0030	37	c.-97 others(46): Show c.-970_-969insGGGGGGGGGGGGGCTGCTCTGACCACTCCCCAACTC T	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		830		chr17	TogoVar
TBC1D22A_chr22_46757650_47180693	46941834	A A	AATAGAAT others(30): Show AATAGAATATATGTATAGAATATGTATAGAATATATGT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0024 a0001c0001t0004g0024	1	112	0.0089	37	c.101 others(58): Show c.1015+29647_1015+29683dupATAGAATATATGTATAGAATATGT ATAGAATATATGT	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D2B_chr15_77989985_78082711	77992778	A A	ACCCCCCC others(30): Show ACCCCCCCAATCCCCCGCCCCCCCCCACTCCCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0025 a0001c0002t0017g0025	1	280	0.0036	37	c.53 others(48): Show c.5381_*5382insCGGGGGGGGAGTGGGGGGGGGCGGGGGATTGGGG GGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2206		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992814	T T	TCCCCCCC others(30): Show TCCCCCCCACTCCCCCCCCACTCCACTCCCCCCCACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0005 a0009c0013t0005	a0009c0013t0005g0271 a0009c0013t0005g0271	1	280	0.0036	37	c.53 others(48): Show c.5309_*5345dupGAGTGGGGGGGAGTGGAGTGGGGGGGGAGTGGGG GGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2170		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992851	C C	CCCCCCCA others(30): Show CCCCCCCACTCCCCCCCACTCCCCCCACTCCCCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0208 a0002c0003t0001g0208	1	280	0.0036	37	c.53 others(48): Show c.5308_*5309insAGTGGGGGGAGTGGGGGGAGTGGGGGGGAGTGGG GGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2133		chr15	TogoVar
TBC1D32_chr6_121074494_121339480	121192051	T T	TCTTTATA others(30): Show TCTTTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02148.hp2 NA18942.hp1 others(2): Show HG01978.hp2 HG02148.hp2 NA18942.hp1 NA18962.hp1 NA19056.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0011 a0003c0004t0003 a0003c0004t0011	a0003c0004t0003g0017 a0003c0004t0003g0025 a0003c0004t0003g0026 others(2): Show a0003c0004t0003g0017 a0003c0004t0003g0025 a0003c0004t0003g0026 a0003c0004t0003g0038 a0003c0004t0011g0023	5	292	0.0171	37	c.257 others(58): Show c.2570+13023_2570+13024insTATATATATATATATATATATATA TATATATATAAAG	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	22/31			chr6	TogoVar
TBCE_chr1_235362427_235457443	235368960	T T	TCCTAATC others(30): Show TCCTAATCAGCAAATCCTTGGACCTCCCTATCTGCCTC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	268	0.0037	37	c.-32 others(54): Show c.-32+1456_-32+1457insCCTAATCAGCAAATCCTTGGACCTCCCT ATCTGCCTC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	1/16			chr1	TogoVar
TBL1XR1_chr3_177014344_177202482	177112107	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	306	0.0033	37	c.-12 others(58): Show c.-121-13567_-121-13566insAAAAAAAAAAATATATATATATAT ATATATATATATA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177112108	T T	TATATATA others(30): Show TATATATATATATATATATATATACATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0061 a0001c0001t0010g0061	1	306	0.0033	37	c.-12 others(58): Show c.-121-13568_-121-13567insTATATATATATATGTATATATATA TATATATATATAT	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBX1_chr22_19755778_19772334	19768953	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0002 a0004c0009t0001g0002	1	432	0.0023	37	c.20 others(48): Show c.2086_*2087insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	TBX1	ENSG00000184058.16	transcript	ENST00000649276.2	protein_coding		1620		chr22	TogoVar
TBX22_chrX_80009753_80036774	80012157	G G	GAGAAAGA others(30): Show GAGAAAGAAGAGAAAGAGAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	325	0.0031	37	c.-27 others(48): Show c.-2733_-2732insAGAAAGAAGAGAAAGAGAGAAAGAAAGAAAGAAA GAA	TBX22	ENSG00000122145.15	transcript	ENST00000373296.8	protein_coding		2595		chrX	TogoVar
TBX2_chr17_61394843_61414466	61402971	A A	AGAGAGAG others(30): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0139 a0001c0003t0005g0139	1	438	0.0023	37	c.664 others(50): Show c.664-90_664-89insGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGA GAGAG	TBX2	ENSG00000121068.14	transcript	ENST00000240328.4	protein_coding	2/6			chr17	TogoVar
TBXAS1_chr7_139824264_140025293	139865600	G G	GAAGAGGA others(30): Show GAAGAGGAGGAGGAGGAAGAGGAGGAGGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0005 a0004c0004t0001g0005	1	270	0.0037	37	c.90- others(52): Show c.90-6634_90-6633insAGAGGAGGAGGAGGAAGAGGAGGAGGAAGA AGAAGAA	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TCEA1_chr8_53961556_54027448	54026373	C C	CGGAAGCA others(30): Show CGGAAGCACAGGAAAAAATTAGAGATGCTCATAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0205	1	314	0.0032	37	c.-42 others(48): Show c.-4249_-4248insATATTTATGAGCATCTCTAATTTTTTCCTGTGCT TCC	TCEA1	ENSG00000187735.16	transcript	ENST00000521604.7	protein_coding		3926		chr8	TogoVar
TCF12_chr15_56913644_57294853	57072408	T T	TGTGAATA others(30): Show TGTGAATAAAGAAATATAAAATAGCTTTTACTCAGTTG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0032	1	330	0.0030	37	c.222 others(54): Show c.222+8586_222+8622dupGTGAATAAAGAAATATAAAATAGCTTTT ACTCAGTTG	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TCF12_chr15_56913644_57294853	57075800	T T	TCTCTCTC others(30): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0206 a0001c0001t0003g0206	1	330	0.0030	37	c.222 others(56): Show c.222+11977_222+11978insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTC	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	4/20			chr15	TogoVar

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Search Results (Total: 3614 hits)