view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TGFBR3L_chr19_7909830_7924097 | 7918219 | TTTTGTTT others(5): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 3 | 446 | 0.0067 | -12 | c.*5+ others(25): Show |
TGFBR3L | ENSG00000260001.7 | transcript | ENST00000565886.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TGFBR3_chr1_91675343_91891151 | 91729033 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0040 | 1 | 284 | 0.0035 | -12 | c.737 others(27): Show |
TGFBR3 | ENSG00000069702.11 | transcript | ENST00000212355.9 | protein_coding | 6/16 | chr1 | TogoVar | |||||||
TGFBR3_chr1_91675343_91891151 | 91729150 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG02145.hp2 |
a0001 | a0001c0006a0001c0009 | a0001c0006t0005a0001c0009t0003 | a0001c0006t0005g0097 a0001c0009t0003g0139 |
2 | 284 | 0.0070 | -12 | c.737 others(27): Show |
TGFBR3 | ENSG00000069702.11 | transcript | ENST00000212355.9 | protein_coding | 6/16 | chr1 | TogoVar | |||||||
TGFBR3_chr1_91675343_91891151 | 91764317 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp2 others(5): Show |
a0001a0002 | a0001c0003a0001c0007a0001c0011others(3): Show | a0001c0003t0003a0001c0007t0006a0001c0011t0003others(5): Show | a0001c0003t0003g0148 a0001c0007t0006g0072 a0001c0011t0003g0173 others(5): Show |
8 | 284 | 0.0282 | -12 | c.247 others(29): Show |
TGFBR3 | ENSG00000069702.11 | transcript | ENST00000212355.9 | protein_coding | 3/16 | chr1 | TogoVar | |||||||
TGFBR3_chr1_91675343_91891151 | 91780884 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG02896.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0003t0016 | a0001c0001t0005g0255 a0001c0003t0016g0256 |
2 | 284 | 0.0070 | -12 | c.246 others(31): Show |
TGFBR3 | ENSG00000069702.11 | transcript | ENST00000212355.9 | protein_coding | 3/16 | chr1 | TogoVar | |||||||
TGFBR3_chr1_91675343_91891151 | 91850080 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0012 | a0002c0012t0010 | a0002c0012t0010g0060 | 1 | 284 | 0.0035 | -12 | c.61+ others(29): Show |
TGFBR3 | ENSG00000069702.11 | transcript | ENST00000212355.9 | protein_coding | 2/16 | chr1 | TogoVar | |||||||
TGFBR3_chr1_91675343_91891151 | 91890409 | CTTTTTTT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02615.hp1 HG02896.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006a0001c0015 | a0001c0001t0008a0001c0006t0018a0001c0015t0006 | a0001c0001t0008g0279 a0001c0006t0018g0280 a0001c0015t0006g0278 others(1): Show |
4 | 284 | 0.0141 | -12 | c.-46 others(23): Show |
TGFBR3 | ENSG00000069702.11 | transcript | ENST00000212355.9 | protein_coding | 4259 | chr1 | TogoVar | |||||||
TGFBRAP1_chr2_105259414_105334735 | 105278068 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02717.hp2 others(9): Show |
a0001a0002a0003 | a0001c0006a0002c0004a0002c0007others(1): Show | a0001c0006t0009a0002c0004t0005a0002c0004t0013others(3): Show | a0001c0006t0009g0002 a0001c0006t0009g0033 a0002c0004t0005g0034 others(8): Show |
12 | 380 | 0.0316 | -12 | c.146 others(29): Show |
TGFBRAP1 | ENSG00000135966.14 | transcript | ENST00000393359.7 | protein_coding | 6/11 | chr2 | TogoVar | |||||||
TGFBRAP1_chr2_105259414_105334735 | 105290615 | CAGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 380 | 0.0026 | -12 | c.103 others(31): Show |
TGFBRAP1 | ENSG00000135966.14 | transcript | ENST00000393359.7 | protein_coding | 4/11 | chr2 | TogoVar | |||||||
TGFBRAP1_chr2_105259414_105334735 | 105290616 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | NA18993.hp2 NA19091.hp1 |
a0001a0002 | a0001c0021a0002c0005 | a0001c0021t0008a0002c0005t0003 | a0001c0021t0008g0297 a0002c0005t0003g0275 |
2 | 380 | 0.0053 | -12 | c.103 others(31): Show |
TGFBRAP1 | ENSG00000135966.14 | transcript | ENST00000393359.7 | protein_coding | 4/11 | chr2 | TogoVar | |||||||
TGFBRAP1_chr2_105259414_105334735 | 105316456 | TGTGTGTG others(5): Show |
T | intron_variant | MODIFIER | HG02109.hp1 NA18522.hp1 |
a0001 | a0001c0006 | a0001c0006t0009 | a0001c0006t0009g0002 | 2 | 380 | 0.0053 | -12 | c.-17 others(29): Show |
TGFBRAP1 | ENSG00000135966.14 | transcript | ENST00000393359.7 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
TGFBRAP1_chr2_105259414_105334735 | 105316458 | TGTGTGCG others(5): Show |
T | intron_variant | MODIFIER | HG01258.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0173 | 1 | 380 | 0.0026 | -12 | c.-17 others(29): Show |
TGFBRAP1 | ENSG00000135966.14 | transcript | ENST00000393359.7 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
TGFBRAP1_chr2_105259414_105334735 | 105316460 | TGTGCGCG others(5): Show |
T | intron_variant | MODIFIER | HG00673.hp1 HG03669.hp2 NA18747.hp1 others(3): Show |
a0001a0002 | a0001c0006a0002c0002a0002c0004 | a0001c0006t0001a0002c0002t0002a0002c0004t0005others(1): Show | a0001c0006t0001g0169 a0002c0002t0002g0132 a0002c0002t0002g0168 others(3): Show |
6 | 380 | 0.0158 | -12 | c.-17 others(29): Show |
TGFBRAP1 | ENSG00000135966.14 | transcript | ENST00000393359.7 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
TGFBRAP1_chr2_105259414_105334735 | 105316469 | GCGCGCGC others(5): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG01071.hp1 HG01257.hp2 others(14): Show |
a0001a0002 | a0001c0006a0002c0004a0002c0005 | a0001c0006t0001a0002c0004t0003a0002c0004t0006others(5): Show | a0001c0006t0001g0201 a0002c0004t0003g0350 a0002c0004t0006g0007 others(13): Show |
17 | 380 | 0.0447 | -12 | c.-17 others(29): Show |
TGFBRAP1 | ENSG00000135966.14 | transcript | ENST00000393359.7 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
TGIF2LX_chrX_89916908_89927883 | 89918570 | TTTATTAT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00642.hp1 HG02155.hp1 HG02723.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0002 a0002c0002t0001g0001 |
8 | 323 | 0.0248 | -12 | c.-34 others(23): Show |
TGIF2LX | ENSG00000153779.11 | transcript | ENST00000283891.6 | protein_coding | 3337 | chrX | TogoVar | |||||||
TGIF2_chr20_36568597_36598950 | 36590540 | AGACATAG others(5): Show |
A | intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 362 | 0.0028 | -12 | c.193 others(27): Show |
TGIF2 | ENSG00000118707.11 | transcript | ENST00000373872.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TGM1_chr14_24244114_24268177 | 24263527 | CTGCCGAG others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp2 HG03130.hp2 HG03209.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0014 | 5 | 420 | 0.0119 | -12 | c.-45 others(21): Show |
TGM1 | ENSG00000092295.12 | transcript | ENST00000206765.11 | protein_coding | 351 | chr14 | TogoVar | |||||||
TGM2_chr20_38122385_38170270 | 38122430 | TATATATA others(5): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00642.hp1 others(22): Show |
a0001a0003a0014 | a0001c0001a0001c0004a0001c0023others(2): Show | a0001c0001t0001a0001c0004t0004a0001c0023t0001others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0011 others(20): Show |
25 | 360 | 0.0694 | -12 | c.*77 others(23): Show |
TGM2 | ENSG00000198959.12 | transcript | ENST00000361475.7 | protein_coding | 4954 | chr20 | TogoVar | |||||||
TGM4_chr3_44869608_44919990 | 44878449 | TTTATTAT others(5): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG00733.hp2 HG00738.hp2 others(70): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0014a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0015others(11): Show | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0150 others(68): Show |
73 | 314 | 0.2325 | -12 | c.19+ others(27): Show |
TGM4 | ENSG00000163810.13 | transcript | ENST00000296125.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TGM4_chr3_44869608_44919990 | 44879255 | CTCTCTCT others(5): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG03139.hp2 |
a0008 | a0008c0006 | a0008c0006t0003 | a0008c0006t0003g0009 | 2 | 314 | 0.0064 | -12 | c.19+ others(27): Show |
TGM4 | ENSG00000163810.13 | transcript | ENST00000296125.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TGM4_chr3_44869608_44919990 | 44879257 | CTCTCTCT others(5): Show |
C | intron_variant | MODIFIER | HG02559.hp2 | a0006 | a0006c0010 | a0006c0010t0003 | a0006c0010t0003g0037 | 1 | 314 | 0.0032 | -12 | c.19+ others(27): Show |
TGM4 | ENSG00000163810.13 | transcript | ENST00000296125.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TGM6_chr20_2375901_2437753 | 2406831 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00733.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0002c0005t0001 | a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0232 others(7): Show |
10 | 420 | 0.0238 | -12 | c.133 others(31): Show |
TGM6 | ENSG00000166948.10 | transcript | ENST00000202625.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TGS1_chr8_55768446_55831445 | 55782146 | CTTTATTT others(5): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02965.hp1 HG03239.hp1 others(3): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0002a0005c0005t0002 | a0001c0001t0001g0016 a0001c0001t0001g0048 a0001c0001t0001g0049 others(2): Show |
6 | 370 | 0.0162 | -12 | c.102 others(27): Show |
TGS1 | ENSG00000137574.11 | transcript | ENST00000260129.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TGS1_chr8_55768446_55831445 | 55793733 | AATTTATT others(5): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG00741.hp2 others(27): Show |
a0001a0004a0007 | a0001c0001a0001c0008a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0001g0046 a0001c0001t0001g0056 a0001c0001t0001g0058 others(20): Show |
30 | 370 | 0.0811 | -12 | c.136 others(29): Show |
TGS1 | ENSG00000137574.11 | transcript | ENST00000260129.6 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TG_chr8_132861958_133139899 | 132946037 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG01243.hp1 others(44): Show |
a0001a0003a0008others(27): Show | a0001c0002a0003c0001a0003c0143others(31): Show | a0001c0002t0001a0003c0001t0001a0003c0143t0001others(31): Show | a0001c0002t0001g0059 a0003c0001t0001g0010 a0003c0001t0001g0091 others(44): Show |
47 | 216 | 0.2176 | -12 | c.523 others(31): Show |
TG | ENSG00000042832.12 | transcript | ENST00000220616.9 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TG_chr8_132861958_133139899 | 132958357 | GTCTATCT others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00544.hp1 others(174): Show |
a0001a0002a0003others(107): Show | a0001c0002a0001c0112a0002c0005others(119): Show | a0001c0002t0001a0001c0112t0001a0002c0005t0001others(119): Show | a0001c0002t0001g0019 a0001c0002t0001g0040 a0001c0002t0001g0059 others(174): Show |
177 | 216 | 0.8194 | -12 | c.540 others(31): Show |
TG | ENSG00000042832.12 | transcript | ENST00000220616.9 | protein_coding | 27/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TG_chr8_132861958_133139899 | 132988449 | GTGCATTG others(5): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(103): Show |
a0001a0002a0003others(83): Show | a0001c0112a0002c0005a0003c0001others(90): Show | a0001c0112t0001a0002c0005t0001a0003c0001t0001others(90): Show | a0001c0112t0001g0199 a0002c0005t0001g0026 a0002c0005t0001g0036 others(103): Show |
106 | 216 | 0.4907 | -12 | c.626 others(31): Show |
TG | ENSG00000042832.12 | transcript | ENST00000220616.9 | protein_coding | 35/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TG_chr8_132861958_133139899 | 133024306 | TTTTCTTT others(5): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01243.hp2 HG01884.hp2 others(21): Show |
a0001a0003a0004others(19): Show | a0001c0002a0001c0113a0003c0001others(20): Show | a0001c0002t0001a0001c0113t0001a0003c0001t0001others(20): Show | a0001c0002t0001g0073 a0001c0113t0001g0048 a0003c0001t0001g0106 others(21): Show |
24 | 216 | 0.1111 | -12 | c.703 others(31): Show |
TG | ENSG00000042832.12 | transcript | ENST00000220616.9 | protein_coding | 40/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TG_chr8_132861958_133139899 | 133055365 | GCACACAC others(5): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG03540.hp2 HG03579.hp2 |
a0057a0097a0098 | a0057c0120a0097c0036a0098c0109 | a0057c0120t0001a0097c0036t0001a0098c0109t0001 | a0057c0120t0001g0053 a0097c0036t0001g0001 a0098c0109t0001g0074 |
3 | 216 | 0.0139 | -12 | c.723 others(33): Show |
TG | ENSG00000042832.12 | transcript | ENST00000220616.9 | protein_coding | 41/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TG_chr8_132861958_133139899 | 133067881 | AGGAAGTA others(5): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG01884.hp1 HG01934.hp2 others(13): Show |
a0001a0005a0023others(10): Show | a0001c0002a0001c0113a0005c0004others(11): Show | a0001c0002t0001a0001c0113t0001a0005c0004t0001others(11): Show | a0001c0002t0001g0059 a0001c0113t0001g0048 a0005c0004t0001g0174 others(13): Show |
16 | 216 | 0.0741 | -12 | c.724 others(33): Show |
TG | ENSG00000042832.12 | transcript | ENST00000220616.9 | protein_coding | 41/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TG_chr8_132861958_133139899 | 133087071 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG01081.hp2 others(24): Show |
a0002a0004a0006others(21): Show | a0002c0005a0004c0003a0006c0006others(22): Show | a0002c0005t0001a0004c0003t0001a0006c0006t0001others(22): Show | a0002c0005t0001g0036 a0004c0003t0001g0150 a0006c0006t0001g0153 others(24): Show |
27 | 216 | 0.1250 | -12 | c.724 others(31): Show |
TG | ENSG00000042832.12 | transcript | ENST00000220616.9 | protein_coding | 41/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TG_chr8_132861958_133139899 | 133128337 | GCACACAC others(5): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02965.hp2 NA18612.hp2 others(1): Show |
a0001a0002a0080others(1): Show | a0001c0112a0002c0005a0080c0068others(1): Show | a0001c0112t0001a0002c0005t0001a0080c0068t0001others(1): Show | a0001c0112t0001g0199 a0002c0005t0001g0072 a0080c0068t0001g0140 others(1): Show |
4 | 216 | 0.0185 | -12 | c.786 others(31): Show |
TG | ENSG00000042832.12 | transcript | ENST00000220616.9 | protein_coding | 45/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TG_chr8_132861958_133139899 | 133136244 | CTTTTTTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG03209.hp2 | a0088 | a0088c0071 | a0088c0071t0001 | a0088c0071t0001g0089 | 1 | 216 | 0.0046 | -12 | c.*14 others(23): Show |
TG | ENSG00000042832.12 | transcript | ENST00000220616.9 | protein_coding | 1346 | chr8 | TogoVar | |||||||
THADA_chr2_43225851_43601038 | 43229795 | TGAGAGAG others(5): Show |
T | downstream_gene_variant | MODIFIER | HG01433.hp1 | a0003 | a0003c0002 | a0003c0002t0004 | a0003c0002t0004g0176 | 1 | 206 | 0.0049 | -12 | c.*11 others(23): Show |
THADA | ENSG00000115970.19 | transcript | ENST00000405975.7 | protein_coding | 1055 | chr2 | TogoVar | |||||||
THADA_chr2_43225851_43601038 | 43248160 | TATATAGA others(5): Show |
T | intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0149 | 1 | 206 | 0.0049 | -12 | c.529 others(33): Show |
THADA | ENSG00000115970.19 | transcript | ENST00000405975.7 | protein_coding | 36/37 | chr2 | TogoVar | |||||||
THADA_chr2_43225851_43601038 | 43248164 | TAGAGAGA others(5): Show |
T | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 206 | 0.0049 | -12 | c.529 others(33): Show |
THADA | ENSG00000115970.19 | transcript | ENST00000405975.7 | protein_coding | 36/37 | chr2 | TogoVar | |||||||
THADA_chr2_43225851_43601038 | 43265930 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01952.hp2 others(13): Show |
a0001a0003a0004others(4): Show | a0001c0001a0003c0002a0003c0016others(6): Show | a0001c0001t0001a0003c0002t0001a0003c0016t0001others(6): Show | a0001c0001t0001g0044 a0001c0001t0001g0076 a0001c0001t0001g0104 others(13): Show |
16 | 206 | 0.0777 | -12 | c.529 others(33): Show |
THADA | ENSG00000115970.19 | transcript | ENST00000405975.7 | protein_coding | 36/37 | chr2 | TogoVar | |||||||
THADA_chr2_43225851_43601038 | 43265980 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG02630.hp1 |
a0001 | a0001c0020a0001c0027 | a0001c0020t0001a0001c0027t0003 | a0001c0020t0001g0120 a0001c0027t0003g0001 |
2 | 206 | 0.0097 | -12 | c.529 others(33): Show |
THADA | ENSG00000115970.19 | transcript | ENST00000405975.7 | protein_coding | 36/37 | chr2 | TogoVar | |||||||
THADA_chr2_43225851_43601038 | 43322674 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02698.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0188 | 1 | 206 | 0.0049 | -12 | c.434 others(31): Show |
THADA | ENSG00000115970.19 | transcript | ENST00000405975.7 | protein_coding | 30/37 | chr2 | TogoVar | |||||||
THADA_chr2_43225851_43601038 | 43425446 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0014 | a0014c0026 | a0014c0026t0003 | a0014c0026t0003g0002 | 1 | 206 | 0.0049 | -12 | c.405 others(31): Show |
THADA | ENSG00000115970.19 | transcript | ENST00000405975.7 | protein_coding | 28/37 | chr2 | TogoVar | |||||||
THADA_chr2_43225851_43601038 | 43457133 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01099.hp1 others(6): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0001g0118 others(6): Show |
9 | 206 | 0.0437 | -12 | c.383 others(33): Show |
THADA | ENSG00000115970.19 | transcript | ENST00000405975.7 | protein_coding | 26/37 | chr2 | TogoVar | |||||||
THADA_chr2_43225851_43601038 | 43520961 | AAGGGAGG others(5): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 a0001c0001t0001g0104 |
2 | 206 | 0.0097 | -12 | c.337 others(31): Show |
THADA | ENSG00000115970.19 | transcript | ENST00000405975.7 | protein_coding | 22/37 | chr2 | TogoVar | |||||||
THAP10_chr15_70876342_70897433 | 70891567 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG01167.hp1 HG01169.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0036 others(7): Show |
16 | 420 | 0.0381 | -12 | c.429 others(27): Show |
THAP10 | ENSG00000129028.9 | transcript | ENST00000249861.9 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
THAP10_chr15_70876342_70897433 | 70895067 | TCTGAGAA others(5): Show |
T | upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 420 | 0.0024 | -12 | c.-28 others(23): Show |
THAP10 | ENSG00000129028.9 | transcript | ENST00000249861.9 | protein_coding | 2635 | chr15 | TogoVar | |||||||
THAP11_chr16_67837320_67849195 | 67841010 | CATATATA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 286 | 0.0035 | -12 | c.-15 others(23): Show |
THAP11 | ENSG00000168286.3 | transcript | ENST00000303596.3 | protein_coding | 1309 | chr16 | TogoVar | |||||||
THAP11_chr16_67837320_67849195 | 67842908 | GCAGCAGC others(5): Show |
G | disruptive_inframe_deletion | MODERATE | HG02630.hp2 | a0009 | a0009c0013 | a0009c0013t0006 | a0009c0013t0006g0000 | 1 | 286 | 0.0035 | -12 | c.366 others(19): Show |
p.Gln others(13): Show |
THAP11 | ENSG00000168286.3 | transcript | ENST00000303596.3 | protein_coding | 1/1 | 601/1876 | 366/945 | 122/314 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
THAP2_chr12_71659301_71685644 | 71681646 | TAAAAAAA others(5): Show |
T | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG01884.hp1 others(28): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(8): Show |
31 | 374 | 0.0829 | -12 | c.*45 others(23): Show |
THAP2 | ENSG00000173451.7 | transcript | ENST00000308086.3 | protein_coding | 1003 | chr12 | TogoVar | |||||||
THAP3_chr1_6619868_6638562 | 6637423 | CCAAGAGA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 410 | 0.0024 | -12 | c.*43 others(23): Show |
THAP3 | ENSG00000041988.16 | transcript | ENST00000054650.9 | protein_coding | 3862 | chr1 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241610869 | TGGGGCCA others(5): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG03491.hp1 HG06807.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0275 a0002c0003t0001g0196 a0002c0003t0001g0261 |
3 | 390 | 0.0077 | -12 | c.124 others(31): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241614889 | CAAAACAA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(137): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0010others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(8): Show | a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 others(133): Show |
140 | 390 | 0.3590 | -12 | c.124 others(31): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 2/5 | chr2 | TogoVar |