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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(1111): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0009 | a0001c0009t0069 | a0001c0009t0069g0302 | 1 | 363 | 0.0028 | 1118 | c.37+ others(1131): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(1111): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0340 | 1 | 363 | 0.0028 | 1118 | c.37+ others(1131): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(1111): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0262 | 1 | 363 | 0.0028 | 1118 | c.37+ others(1131): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(1111): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00673.hp2 others(55): Show |
a0001a0002a0005others(4): Show | a0001c0004a0001c0005a0001c0006others(31): Show | a0001c0004t0002a0001c0005t0001a0001c0006t0001others(37): Show | a0001c0004t0002g0230 a0001c0004t0002g0240 a0001c0004t0002g0241 others(55): Show |
58 | 363 | 0.1598 | 1118 | c.37+ others(1131): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(1111): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0118 | a0001c0118t0004 | a0001c0118t0004g0171 | 1 | 363 | 0.0028 | 1118 | c.37+ others(1131): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(1111): Show |
intron_variant | MODIFIER | HG03831.hp2 NA19070.hp2 |
a0001a0002 | a0001c0002a0002c0110 | a0001c0002t0001a0002c0110t0004 | a0001c0002t0001g0259 a0002c0110t0004g0142 |
2 | 363 | 0.0055 | 1118 | c.37+ others(1131): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(1111): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01261.hp1 |
a0001a0002 | a0001c0006a0002c0028 | a0001c0006t0001a0002c0028t0001 | a0001c0006t0001g0219 a0002c0028t0001g0285 |
2 | 363 | 0.0055 | 1118 | c.37+ others(1131): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(1111): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01070.hp2 HG01074.hp2 others(20): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0002a0001c0001t0012a0001c0002t0001others(14): Show | a0001c0001t0002g0271 a0001c0001t0012g0207 a0001c0002t0001g0270 others(20): Show |
23 | 363 | 0.0634 | 1118 | c.37+ others(1131): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(1111): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00597.hp1 others(27): Show |
a0001a0004a0005others(1): Show | a0001c0002a0001c0003a0001c0005others(20): Show | a0001c0002t0001a0001c0003t0001a0001c0005t0001others(22): Show | a0001c0002t0001g0211 a0001c0002t0001g0267 a0001c0003t0001g0081 others(27): Show |
30 | 363 | 0.0826 | 1118 | c.37+ others(1131): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(1111): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0002 | a0002c0060 | a0002c0060t0025 | a0002c0060t0025g0292 | 1 | 363 | 0.0028 | 1118 | c.37+ others(1131): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(1111): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0051 | a0001c0051t0052 | a0001c0051t0052g0336 | 1 | 363 | 0.0028 | 1118 | c.37+ others(1131): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(1111): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 NA18939.hp2 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0004a0001c0018a0001c0020others(3): Show | a0001c0004t0005a0001c0018t0008a0001c0018t0025others(4): Show | a0001c0004t0005g0299 a0001c0018t0008g0290 a0001c0018t0025g0296 others(4): Show |
7 | 363 | 0.0193 | 1118 | c.37+ others(1131): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(1111): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0183 | 1 | 363 | 0.0028 | 1118 | c.37+ others(1131): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(1111): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 |
a0009 | a0009c0048 | a0009c0048t0006 | a0009c0048t0006g0001 | 2 | 363 | 0.0055 | 1118 | c.37+ others(1131): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(1111): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01243.hp1 HG01516.hp1 others(13): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0003a0001c0021others(9): Show | a0001c0001t0006a0001c0003t0003a0001c0003t0008others(13): Show | a0001c0001t0006g0115 a0001c0003t0003g0161 a0001c0003t0008g0288 others(13): Show |
16 | 363 | 0.0441 | 1118 | c.37+ others(1131): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(1111): Show |
intron_variant | MODIFIER | HG00738.hp1 NA18522.hp2 |
a0001a0008 | a0001c0026a0008c0140 | a0001c0026t0007a0008c0140t0011 | a0001c0026t0007g0129 a0008c0140t0011g0353 |
2 | 363 | 0.0055 | 1118 | c.37+ others(1131): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(1111): Show |
intron_variant | MODIFIER | HG00558.hp2 NA18957.hp2 NA18975.hp2 |
a0001a0002 | a0001c0004a0002c0025 | a0001c0004t0013a0001c0004t0039a0002c0025t0013 | a0001c0004t0013g0018 a0001c0004t0039g0076 a0002c0025t0013g0116 |
3 | 363 | 0.0083 | 1118 | c.37+ others(1131): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140209 | C | CGCCCGGC others(1111): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0026 | 1 | 226 | 0.0044 | 1118 | c.217 others(1137): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140209 | C | CGCCCGGC others(1111): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0184 | 1 | 226 | 0.0044 | 1118 | c.217 others(1137): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 6004781 | G | GGTGATGG others(1111): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0033 | a0033c0036 | a0033c0036t0001 | a0033c0036t0001g0279 | 1 | 346 | 0.0029 | 1118 | c.963 others(1135): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(1111): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0080 | 1 | 376 | 0.0027 | 1118 | c.63+ others(1131): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20357810 | T | TACTGAGG others(1111): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03195.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0004 | a0001c0001t0001g0078 a0001c0003t0004g0004 |
2 | 236 | 0.0085 | 1118 | c.351 others(1137): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1111): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0014 | 1 | 278 | 0.0036 | 1118 | c.328 others(1135): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45501732 | C | CCAGGGGC others(1111): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0173 | 1 | 292 | 0.0034 | 1118 | c.268 others(1137): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CPM_chr12_68846175_68938171 | 68898148 | C | CTGGCCTG others(1111): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 340 | 0.0029 | 1118 | c.161 others(1137): Show |
CPM | ENSG00000135678.12 | transcript | ENST00000551568.6 | protein_coding | 2/8 | chr12 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3558334 | G | GTAGTACC others(1111): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0061 | a0001c0002t0061g0069 | 1 | 126 | 0.0079 | 1118 | c.134 others(1139): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | |||||||
CYLC1_chrX_83856146_83891698 | 83878202 | A | AATATATA others(1111): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 208 | 0.0048 | 1118 | c.192 others(1137): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1111): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0003 | a0003c0100 | a0003c0100t0001 | a0003c0100t0001g0170 | 1 | 252 | 0.0040 | 1118 | c.118 others(1137): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1111): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0129 | a0001c0129t0001 | a0001c0129t0001g0233 | 1 | 252 | 0.0040 | 1118 | c.118 others(1137): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
HTRA3_chr4_8264754_8312098 | 8294675 | T | TACATCTG others(1111): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 388 | 0.0026 | 1118 | c.105 others(1135): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
IL18R1_chr2_102350796_102403776 | 102352800 | T | TAATATAA others(1111): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038 | 1 | 366 | 0.0027 | 1118 | c.-36 others(1129): Show |
IL18R1 | ENSG00000115604.12 | transcript | ENST00000233957.7 | protein_coding | 2995 | chr2 | TogoVar | |||||||
IL18R1_chr2_102350796_102403776 | 102352800 | T | TAATATAA others(1111): Show |
upstream_gene_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0040 | 1 | 366 | 0.0027 | 1118 | c.-36 others(1129): Show |
IL18R1 | ENSG00000115604.12 | transcript | ENST00000233957.7 | protein_coding | 2995 | chr2 | TogoVar | |||||||
IL1RL1_chr2_102306563_102357037 | 102352800 | T | TAATATAA others(1111): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0198 | 1 | 348 | 0.0029 | 1118 | c.*87 others(1127): Show |
IL1RL1 | ENSG00000115602.17 | transcript | ENST00000233954.6 | protein_coding | 764 | chr2 | TogoVar | |||||||
JAG2_chr14_105135995_105173776 | 105162474 | C | CAAAGCCC others(1111): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 364 | 0.0028 | 1118 | c.418 others(1135): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 2/25 | chr14 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62360418 | T | TGCGTGGG others(1111): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0020 | a0020c0039 | a0020c0039t0001 | a0020c0039t0001g0020 | 1 | 186 | 0.0054 | 1118 | c.450 others(1135): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256767 | A | ATAGTCAC others(1111): Show |
upstream_gene_variant | MODIFIER | HG02074.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 422 | 0.0024 | 1118 | c.-29 others(1129): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2919 | chr1 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256767 | A | ATAGTCAC others(1111): Show |
upstream_gene_variant | MODIFIER | NA18962.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 422 | 0.0024 | 1118 | c.-29 others(1129): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2919 | chr1 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256767 | A | ATAGTCAC others(1111): Show |
upstream_gene_variant | MODIFIER | NA20752.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 422 | 0.0024 | 1118 | c.-29 others(1129): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2919 | chr1 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256767 | A | ATAGTCAC others(1111): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 HG02056.hp2 NA18964.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0005 | a0002c0002t0001g0001 a0002c0002t0005g0001 |
5 | 422 | 0.0119 | 1118 | c.-29 others(1129): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2919 | chr1 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256767 | A | ATAGTCAC others(1111): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 HG02083.hp2 NA18999.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 8 | 422 | 0.0190 | 1118 | c.-29 others(1129): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2919 | chr1 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256767 | A | ATAGTCAC others(1111): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG03710.hp2 NA18968.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 3 | 422 | 0.0071 | 1118 | c.-29 others(1129): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2919 | chr1 | TogoVar | |||||||
LRRC7_chr1_69562922_70149364 | 69916173 | A | ATTATATA others(1111): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0092 | a0001c0001t0092g0101 | 1 | 108 | 0.0093 | 1118 | c.648 others(1137): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | chr1 | TogoVar | |||||||
LRRC7_chr1_69562922_70149364 | 69916173 | A | ATTATATA others(1111): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02559.hp2 HG02922.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0063a0001c0004t0057a0001c0004t0060 | a0001c0001t0063g0057 a0001c0004t0057g0060 a0001c0004t0060g0059 |
3 | 108 | 0.0278 | 1118 | c.648 others(1137): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | chr1 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43432644 | G | GAGAGAGA others(1111): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0016 | 1 | 250 | 0.0040 | 1118 | c.225 others(1135): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811271 | T | TTCCTTCC others(1111): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0043a0002c0008t0058 | a0001c0001t0043g0117 a0002c0008t0058g0099 |
2 | 178 | 0.0112 | 1118 | c.773 others(1133): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811273 | C | CCTTCCTT others(1111): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0147 | 1 | 178 | 0.0056 | 1118 | c.773 others(1133): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(1111): Show |
downstream_gene_variant | MODIFIER | NA18612.hp1 | a0009 | a0009c0016 | a0009c0016t0011 | a0009c0016t0011g0152 | 1 | 322 | 0.0031 | 1118 | c.*48 others(1129): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | |||||||
TEX29_chr13_111315642_111349248 | 111340261 | A | AATCATAA others(1111): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0126 | 1 | 416 | 0.0024 | 1118 | c.239 others(1133): Show |
TEX29 | ENSG00000153495.11 | transcript | ENST00000283547.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TEX29_chr13_111315642_111349248 | 111340261 | A | AATCATAA others(1111): Show |
intron_variant | MODIFIER | HG01934.hp2 HG01952.hp1 HG02004.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0114 a0001c0001t0001g0117 |
5 | 416 | 0.0120 | 1118 | c.239 others(1133): Show |
TEX29 | ENSG00000153495.11 | transcript | ENST00000283547.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TEX29_chr13_111315642_111349248 | 111340261 | A | AATCATAA others(1111): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 416 | 0.0024 | 1118 | c.239 others(1133): Show |
TEX29 | ENSG00000153495.11 | transcript | ENST00000283547.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |