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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
STK3_chr8_98449633_98830688 | 98825715 | CCCGCCCC others(33): Show |
C | upstream_gene_variant | MODIFIER | HG01175.hp1 HG01256.hp2 HG01884.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0024a0001c0001t0001g0041a0001c0001t0001g0049others(10): Show | 13 | 170 | 0.0765 | -40 | c.-21 others(49): Show |
STK3 | ENSG00000104375.17 | transcript | ENST00000419617.7 | protein_coding | 28 | chr8 | TogoVar | ||||||
STKLD1_chr9_133371366_133411096 | 133392615 | ATGGATGG others(33): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG01069.hp2 HG01071.hp1 others(5): Show |
a0003 | a0003c0010a0003c0011 | a0003c0010t0008a0003c0011t0009 | a0003c0010t0008g0008a0003c0010t0008g0039a0003c0010t0008g0040others(4): Show | 8 | 356 | 0.0225 | -40 | c.584 others(57): Show |
STKLD1 | ENSG00000198870.8 | transcript | ENST00000371957.4 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
STON1_chr2_48525154_48603513 | 48557393 | GGCTCCTC others(33): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG01081.hp1 others(14): Show |
a0001a0003 | a0001c0003a0003c0004 | a0001c0003t0034a0003c0004t0004 | a0001c0003t0034g0026a0003c0004t0004g0313a0003c0004t0004g0314others(14): Show | 17 | 376 | 0.0452 | -40 | c.-47 others(59): Show |
STON1 | ENSG00000243244.7 | transcript | ENST00000404752.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
STON2_chr14_81255652_81405324 | 81308880 | ACTAAAGG others(33): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG02109.hp2 HG02717.hp1 others(10): Show |
a0002a0003a0015 | a0002c0002a0003c0003a0015c0014 | a0002c0002t0001a0002c0002t0005a0002c0002t0013others(7): Show | a0002c0002t0001g0028a0002c0002t0005g0008a0002c0002t0013g0136others(10): Show | 13 | 264 | 0.0492 | -40 | c.742 others(59): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
STRA8_chr7_135228838_135263663 | 135241918 | ATTTAGCA others(33): Show |
A | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 416 | 0.0024 | -40 | c.193 others(55): Show |
STRA8 | ENSG00000146857.5 | transcript | ENST00000662584.2 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
STRIP2_chr7_129429432_129493399 | 129476302 | CGGCGGCT others(33): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0275 | 1 | 346 | 0.0029 | -40 | c.194 others(59): Show |
STRIP2 | ENSG00000128578.10 | transcript | ENST00000249344.7 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
STRIP2_chr7_129429432_129493399 | 129476420 | CGGGGCGG others(33): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG02559.hp2 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0121a0001c0001t0012g0032a0001c0001t0012g0033others(2): Show | 6 | 346 | 0.0173 | -40 | c.194 others(59): Show |
STRIP2 | ENSG00000128578.10 | transcript | ENST00000249344.7 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
STX2_chr12_130784600_130844250 | 130843896 | GTATACTA others(33): Show |
G | upstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 380 | 0.0026 | -40 | c.-48 others(51): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 4647 | chr12 | TogoVar | ||||||
STX2_chr12_130784600_130844250 | 130843904 | CGTATATA others(33): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG01081.hp1 others(21): Show |
a0001a0002 | a0001c0004a0002c0002a0002c0005 | a0001c0004t0004a0001c0004t0015a0002c0002t0002others(2): Show | a0001c0004t0004g0006a0001c0004t0004g0025a0001c0004t0004g0029others(18): Show | 24 | 380 | 0.0632 | -40 | c.-48 others(51): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 4655 | chr12 | TogoVar | ||||||
STX6_chr1_180967725_181027870 | 181023037 | TCTCTCTC others(33): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00597.hp2 others(86): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0025others(8): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0008others(82): Show | 89 | 350 | 0.2543 | -40 | c.-40 others(49): Show |
STX6 | ENSG00000135823.14 | transcript | ENST00000258301.6 | protein_coding | 168 | chr1 | TogoVar | ||||||
STX7_chr6_132440867_132518116 | 132517035 | CATATATA others(33): Show |
C | upstream_gene_variant | MODIFIER | HG01952.hp2 HG02615.hp1 HG02630.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0011a0001c0001t0014others(15): Show | a0001c0001t0006g0323a0001c0001t0011g0049a0001c0001t0014g0126others(18): Show | 23 | 380 | 0.0605 | -40 | c.-41 others(51): Show |
STX7 | ENSG00000079950.14 | transcript | ENST00000367941.7 | protein_coding | 3920 | chr6 | TogoVar | ||||||
STXBP1_chr9_127607277_127697699 | 127668973 | AATACAAA others(33): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02630.hp1 HG02809.hp1 others(5): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0002a0001c0006t0002 | a0001c0002t0002g0110a0001c0002t0002g0111a0001c0002t0002g0112others(5): Show | 8 | 300 | 0.0267 | -40 | c.902 others(55): Show |
STXBP1 | ENSG00000136854.25 | transcript | ENST00000373299.5 | protein_coding | 10/18 | chr9 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121314014 | ACGCTCCT others(33): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0035 | 1 | 290 | 0.0035 | -40 | c.211 others(59): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
STYXL1_chr7_75991342_76053000 | 76046274 | CTGTGTGT others(33): Show |
C | intron_variant | MODIFIER | HG03704.hp1 NA18955.hp1 NA18991.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0102a0001c0002t0002g0103a0001c0002t0002g0104 | 3 | 356 | 0.0084 | -40 | c.-5+ others(55): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 1/8 | chr7 | TogoVar | ||||||
STYXL1_chr7_75991342_76053000 | 76046309 | TGTGTGTG others(33): Show |
T | intron_variant | MODIFIER | HG01934.hp2 HG02559.hp1 HG02976.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0339a0001c0001t0001g0340a0001c0001t0001g0341others(4): Show | 7 | 356 | 0.0197 | -40 | c.-5+ others(55): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 1/8 | chr7 | TogoVar | ||||||
STYXL1_chr7_75991342_76053000 | 76046311 | TGTGTGTG others(33): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 356 | 0.0028 | -40 | c.-5+ others(55): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 1/8 | chr7 | TogoVar | ||||||
STYXL2_chr1_167089075_167134165 | 167120829 | CATATATA others(33): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG01081.hp2 others(17): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0003a0002c0002t0008others(1): Show | a0001c0001t0001g0134a0002c0002t0003g0007a0002c0002t0003g0020others(13): Show | 20 | 362 | 0.0553 | -40 | c.655 others(57): Show |
STYXL2 | ENSG00000198842.10 | transcript | ENST00000361200.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SULT1B1_chr4_69716167_69765620 | 69762092 | TGTCTGAG others(33): Show |
T | upstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0164 | 1 | 408 | 0.0025 | -40 | c.-17 others(51): Show |
SULT1B1 | ENSG00000173597.9 | transcript | ENST00000310613.8 | protein_coding | 1473 | chr4 | TogoVar | ||||||
SULT6B1_chr2_37162820_37193670 | 37190048 | ACCTGTAT others(33): Show |
A | upstream_gene_variant | MODIFIER | NA18979.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 354 | 0.0028 | -40 | c.-14 others(51): Show |
SULT6B1 | ENSG00000138068.12 | transcript | ENST00000535679.6 | protein_coding | 1379 | chr2 | TogoVar | ||||||
SUMO1_chr2_202201182_202243597 | 202234782 | ATTAGCTG others(33): Show |
A | intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 374 | 0.0027 | -40 | c.12+ others(55): Show |
SUMO1 | ENSG00000116030.17 | transcript | ENST00000392246.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
SUPT3H_chr6_44821726_45382934 | 45212479 | CTATGTGT others(33): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG01934.hp2 HG02055.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0006 | a0001c0001t0003g0019a0001c0001t0003g0020a0001c0001t0003g0021others(13): Show | 16 | 262 | 0.0611 | -40 | c.102 others(61): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
SUPT3H_chr6_44821726_45382934 | 45288547 | GTATATAT others(33): Show |
G | intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 262 | 0.0038 | -40 | c.101 others(59): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
SUPT3H_chr6_44821726_45382934 | 45288557 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 262 | 0.0038 | -40 | c.101 others(59): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
SUPT3H_chr6_44821726_45382934 | 45288559 | ATATATGT others(33): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG01071.hp1 HG01074.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0070a0001c0001t0001g0089a0001c0001t0001g0096others(8): Show | 11 | 262 | 0.0420 | -40 | c.101 others(59): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
SUSD4_chr1_223215831_223369176 | 223304793 | CATATATA others(33): Show |
C | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 276 | 0.0036 | -40 | c.149 others(59): Show |
SUSD4 | ENSG00000143502.16 | transcript | ENST00000366878.9 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
SV2C_chr5_76078383_76338956 | 76223440 | CATACATA others(33): Show |
C | intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0216 | 1 | 234 | 0.0043 | -40 | c.913 others(59): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SV2C_chr5_76078383_76338956 | 76223457 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0196 | 1 | 234 | 0.0043 | -40 | c.913 others(59): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SVOPL_chr7_138589285_138706362 | 138621814 | GTATCTAT others(33): Show |
G | intron_variant | MODIFIER | HG02132.hp1 HG03239.hp1 NA19057.hp2 others(1): Show |
a0001a0002a0003 | a0001c0005a0001c0008a0002c0006others(1): Show | a0001c0005t0002a0001c0008t0002a0002c0006t0002others(1): Show | a0001c0005t0002g0155a0001c0008t0002g0082a0002c0006t0002g0341others(1): Show | 4 | 360 | 0.0111 | -40 | c.126 others(57): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 13/15 | chr7 | TogoVar | ||||||
SVOPL_chr7_138589285_138706362 | 138621822 | GTATCTAT others(33): Show |
G | intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0292 | 1 | 360 | 0.0028 | -40 | c.126 others(57): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 13/15 | chr7 | TogoVar | ||||||
SVOPL_chr7_138589285_138706362 | 138621922 | CTATCTAT others(33): Show |
C | intron_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0111 | 1 | 360 | 0.0028 | -40 | c.126 others(57): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 13/15 | chr7 | TogoVar | ||||||
SVOPL_chr7_138589285_138706362 | 138622030 | CTATCTAT others(33): Show |
C | intron_variant | MODIFIER | NA18953.hp2 NA18967.hp1 NA18992.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0001a0001c0002t0002a0003c0007t0002 | a0001c0001t0001g0337a0001c0002t0002g0203a0003c0007t0002g0230others(1): Show | 4 | 360 | 0.0111 | -40 | c.126 others(57): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 13/15 | chr7 | TogoVar | ||||||
SVOPL_chr7_138589285_138706362 | 138622176 | GTCTATGT others(33): Show |
G | intron_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0130 | 1 | 360 | 0.0028 | -40 | c.126 others(59): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 13/15 | chr7 | TogoVar | ||||||
SVOPL_chr7_138589285_138706362 | 138622202 | GTATCTAT others(33): Show |
G | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0329 | 1 | 360 | 0.0028 | -40 | c.126 others(59): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 13/15 | chr7 | TogoVar | ||||||
SVOPL_chr7_138589285_138706362 | 138637441 | TAGATAGA others(33): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02976.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043a0001c0001t0001g0352a0001c0001t0001g0353 | 3 | 360 | 0.0083 | -40 | c.789 others(57): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 9/15 | chr7 | TogoVar | ||||||
SYK_chr9_90796819_90903549 | 90861517 | TTGGAAGT others(33): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(263): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(88): Show | a0001c0001t0001g0015a0001c0001t0001g0256a0001c0001t0001g0257others(261): Show | 266 | 376 | 0.7075 | -40 | c.579 others(55): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SYN2_chr3_11999388_12197032 | 12003793 | TGTGTGTG others(33): Show |
T | upstream_gene_variant | MODIFIER | HG03041.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0029 | 1 | 264 | 0.0038 | -40 | c.-75 others(49): Show |
SYN2 | ENSG00000157152.17 | transcript | ENST00000621198.5 | protein_coding | 594 | chr3 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32813486 | TACACACA others(33): Show |
T | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0153 | 1 | 184 | 0.0054 | -40 | c.711 others(59): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64038013 | CTGCCAGG others(33): Show |
C | intron_variant | MODIFIER | NA19010.hp1 | a0012 | a0012c0008 | a0012c0008t0002 | a0012c0008t0002g0064 | 1 | 150 | 0.0067 | -40 | c.722 others(59): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 45/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SYNE2_chr14_63848004_64231433 | 64151434 | AAAAAAAA others(33): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02886.hp1 HG03195.hp2 |
a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0143a0006c0007t0001g0144a0006c0007t0001g0145 | 3 | 150 | 0.0200 | -40 | c.156 others(61): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 84/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SYNE2_chr14_63848004_64231433 | 64183074 | CCGGACGG others(33): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02622.hp1 HG02622.hp2 others(7): Show |
a0008a0015a0022others(3): Show | a0008c0078a0008c0079a0015c0095others(6): Show | a0008c0078t0001a0008c0079t0003a0015c0095t0001others(7): Show | a0008c0078t0001g0085a0008c0079t0003g0087a0015c0095t0001g0003others(7): Show | 10 | 150 | 0.0667 | -40 | c.175 others(61): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 96/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SYNPR_chr3_63273308_63621924 | 63313732 | CATATATA others(33): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG01106.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0083a0001c0001t0001g0086a0001c0001t0001g0089others(5): Show | 8 | 246 | 0.0325 | -40 | c.84+ others(57): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SYT1_chr12_78859774_79457008 | 79064926 | GAGAAAGA others(33): Show |
G | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0029 | 1 | 62 | 0.0161 | -40 | c.-18 others(59): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SYT3_chr19_50616977_50644881 | 50619909 | ATTATTAT others(33): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00621.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(10): Show | 15 | 388 | 0.0387 | -40 | c.*25 others(51): Show |
SYT3 | ENSG00000213023.11 | transcript | ENST00000600079.6 | protein_coding | 2067 | chr19 | TogoVar | ||||||
SYT9_chr11_7246904_7474043 | 7432576 | AAAAAAAA others(33): Show |
A | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0203 | 1 | 272 | 0.0037 | -40 | c.146 others(61): Show |
SYT9 | ENSG00000170743.17 | transcript | ENST00000318881.11 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TAB3_chrX_30822442_30894254 | 30868527 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0205 | 1 | 302 | 0.0033 | -40 | c.-27 others(58): Show |
TAB3 | ENSG00000157625.16 | transcript | ENST00000288422.4 | protein_coding | 2/10 | chrX | TogoVar | ||||||
TACC3_chr4_1716521_1750171 | 1732182 | CTTGTCCG others(33): Show |
C | intron_variant | MODIFIER | HG02922.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163a0001c0001t0001g0164 | 2 | 344 | 0.0058 | -40 | c.159 others(58): Show |
TACC3 | ENSG00000013810.21 | transcript | ENST00000313288.9 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
TACR1_chr2_75041463_75204520 | 75154448 | ACACTCTG others(33): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG01069.hp1 HG02056.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0092a0001c0001t0003g0084a0001c0001t0003g0086others(3): Show | 6 | 282 | 0.0213 | -40 | c.390 others(59): Show |
TACR1 | ENSG00000115353.11 | transcript | ENST00000305249.10 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
TACR2_chr10_69398903_69421918 | 69409865 | GTATATAT others(33): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG02602.hp1 HG02976.hp2 others(7): Show |
a0001a0006a0007 | a0001c0001a0006c0006a0007c0007 | a0001c0001t0013a0006c0006t0006a0007c0007t0020 | a0001c0001t0013g0069a0006c0006t0006g0012a0006c0006t0006g0089others(3): Show | 10 | 382 | 0.0262 | -40 | c.588 others(55): Show |
TACR2 | ENSG00000075073.16 | transcript | ENST00000373306.5 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
TACR3_chr4_103581031_103724985 | 103719575 | GTGGCCGC others(33): Show |
G | frameshift_variant | HIGH | HG03195.hp2 | a0006 | a0006c0006 | a0006c0006t0018 | a0006c0006t0018g0128 | 1 | 280 | 0.0036 | -40 | c.61_ others(46): Show |
p.Ala others(4): Show |
TACR3 | ENSG00000169836.5 | transcript | ENST00000304883.3 | protein_coding | 1/5 | 410/5359 | 61/1398 | 21/465 | chr4 | TogoVar | ||
TAF13_chr1_109059140_109081003 | 109071975 | TACACACA others(33): Show |
T | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0207 | 1 | 414 | 0.0024 | -40 | c.106 others(57): Show |
TAF13 | ENSG00000197780.11 | transcript | ENST00000338366.6 | protein_coding | 2/3 | chr1 | TogoVar |