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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAM163B_chr9_133572081_133614389 | 133588612 | C | CTGAAGGA others(2045): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02109.hp1 HG02809.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0009a0001c0001t0001g0063a0001c0001t0001g0064others(2): Show | 7 | 382 | 0.0183 | 2052 | c.-23 others(2069): Show |
FAM163B | ENSG00000196990.10 | transcript | ENST00000673969.1 | protein_coding | 1/2 | chr9 | TogoVar | ||||||
FAM163B_chr9_133572081_133614389 | 133588612 | C | CTGAAGGA others(2045): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG02055.hp2 others(19): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0003g0011a0001c0001t0003g0044a0001c0001t0003g0067others(14): Show | 22 | 382 | 0.0576 | 2052 | c.-23 others(2069): Show |
FAM163B | ENSG00000196990.10 | transcript | ENST00000673969.1 | protein_coding | 1/2 | chr9 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952751 | G | GGGGGGGC others(2045): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 242 | 0.0041 | 2052 | c.360 others(2071): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744883 | C | CCCTGGCT others(2045): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0028 | 1 | 196 | 0.0051 | 2052 | c.655 others(2069): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(2045): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0053 | a0001c0053t0063 | a0001c0053t0063g0234 | 1 | 280 | 0.0036 | 2052 | c.89- others(2065): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431958 | T | TAGGGTGC others(2045): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303 | 1 | 376 | 0.0027 | 2052 | c.101 others(2071): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SLC6A3_chr5_1387794_1450440 | 1414424 | A | AGAAGGCA others(2045): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0268 | 1 | 373 | 0.0027 | 2052 | c.115 others(2069): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414424 | A | AGAAGGCA others(2045): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 373 | 0.0027 | 2052 | c.115 others(2069): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414469 | G | GCTAGGTG others(2045): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0290 | 1 | 373 | 0.0027 | 2052 | c.115 others(2069): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
VNN1_chr6_132675849_132719055 | 132706868 | C | CAAAAGAA others(2045): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0007 | a0007c0009 | a0007c0009t0003 | a0007c0009t0003g0211 | 1 | 418 | 0.0024 | 2052 | c.341 others(2069): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2046): Show |
intron_variant | MODIFIER | NA18971.hp2 NA19084.hp1 |
a0005 | a0005c0006 | a0005c0006t0015 | a0005c0006t0015g0083a0005c0006t0015g0084 | 2 | 218 | 0.0092 | 2053 | c.108 others(2070): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2046): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0016 | a0016c0040 | a0016c0040t0010 | a0016c0040t0010g0085 | 1 | 218 | 0.0046 | 2053 | c.108 others(2070): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2046): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0077 | 1 | 218 | 0.0046 | 2053 | c.108 others(2070): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2046): Show |
intron_variant | MODIFIER | HG03669.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0244a0001c0001t0002g0297 | 2 | 366 | 0.0055 | 2053 | c.648 others(2070): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2046): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0286 | 1 | 366 | 0.0027 | 2053 | c.648 others(2070): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2046): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0214 | 1 | 366 | 0.0027 | 2053 | c.648 others(2070): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2046): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0271 | 1 | 366 | 0.0027 | 2053 | c.648 others(2070): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2046): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0276a0001c0001t0005g0277 | 2 | 366 | 0.0055 | 2053 | c.648 others(2070): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2046): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0242 | 1 | 366 | 0.0027 | 2053 | c.648 others(2070): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2046): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00609.hp1 others(50): Show |
a0001a0004a0006 | a0001c0001a0004c0004a0006c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0198a0001c0001t0002g0012a0001c0001t0002g0196others(49): Show | 53 | 366 | 0.1448 | 2053 | c.648 others(2070): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2046): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0186 | 1 | 366 | 0.0027 | 2053 | c.648 others(2070): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2046): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 390 | 0.0026 | 2053 | c.972 others(2066): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SLC6A3_chr5_1387794_1450440 | 1414491 | T | TCAGGGCG others(2046): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0034 | 1 | 373 | 0.0027 | 2053 | c.115 others(2070): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2047): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0191 | 1 | 218 | 0.0046 | 2054 | c.108 others(2071): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2047): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 334 | 0.0030 | 2054 | c.147 others(2071): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2047): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0285 | 1 | 366 | 0.0027 | 2054 | c.648 others(2071): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2047): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0232 | 1 | 366 | 0.0027 | 2054 | c.648 others(2071): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2047): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0202 | 1 | 366 | 0.0027 | 2054 | c.648 others(2071): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2047): Show |
intron_variant | MODIFIER | HG02647.hp1 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0240a0001c0001t0002g0281 | 2 | 366 | 0.0055 | 2054 | c.648 others(2071): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2047): Show |
intron_variant | MODIFIER | NA18945.hp2 NA18988.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0255a0001c0001t0015g0262 | 2 | 366 | 0.0055 | 2054 | c.648 others(2071): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2047): Show |
intron_variant | MODIFIER | NA19060.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0052 | a0001c0001t0002g0248a0001c0001t0052g0267 | 2 | 366 | 0.0055 | 2054 | c.648 others(2071): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(2047): Show |
intron_variant | MODIFIER | HG03688.hp1 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0036 | 2 | 175 | 0.0114 | 2054 | c.164 others(2073): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(2047): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0027 | a0027c0046 | a0027c0046t0001 | a0027c0046t0001g0055 | 1 | 282 | 0.0036 | 2054 | c.299 others(2069): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 297952 | T | TCTGTCCC others(2047): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0005 | a0002c0005t0022 | a0002c0005t0022g0035 | 1 | 176 | 0.0057 | 2054 | c.734 others(2071): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2047): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 272 | 0.0037 | 2054 | c.-12 others(2075): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2047): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00642.hp2 others(39): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0145a0001c0001t0001g0218a0001c0001t0001g0225others(38): Show | 42 | 272 | 0.1544 | 2054 | c.-12 others(2075): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2047): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 272 | 0.0037 | 2054 | c.-12 others(2075): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2047): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0104 | 1 | 272 | 0.0037 | 2054 | c.-12 others(2075): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2048): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0002 | a0002c0002t0034 | a0002c0002t0034g0070 | 1 | 218 | 0.0046 | 2055 | c.108 others(2072): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763773 | T | TTGTCCAC others(2048): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0005 | a0005c0006 | a0005c0006t0015 | a0005c0006t0015g0090 | 1 | 218 | 0.0046 | 2055 | c.108 others(2072): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2048): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0234 | 1 | 366 | 0.0027 | 2055 | c.648 others(2072): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2048): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0211 | 1 | 366 | 0.0027 | 2055 | c.648 others(2072): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2048): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0275 | 1 | 366 | 0.0027 | 2055 | c.648 others(2072): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2048): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0254 | 1 | 366 | 0.0027 | 2055 | c.648 others(2072): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2048): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0274 | 1 | 366 | 0.0027 | 2055 | c.648 others(2072): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2048): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0023 | a0023c0042 | a0023c0042t0002 | a0023c0042t0002g0054 | 1 | 104 | 0.0096 | 2055 | c.354 others(2074): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(2048): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0055 | a0055c0071 | a0055c0071t0001 | a0055c0071t0001g0129 | 1 | 170 | 0.0059 | 2055 | c.101 others(2074): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(2048): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 1 | 158 | 0.0063 | 2055 | c.*11 others(2076): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811226 | T | TACCCTCC others(2048): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0057 | a0001c0002t0057g0076 | 1 | 178 | 0.0056 | 2055 | c.773 others(2070): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811321 | T | TCCCTACC others(2048): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056 | 1 | 178 | 0.0056 | 2055 | c.773 others(2070): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |