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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRPF4_chr9_113270658_113297905 | 113285343 | ATTTTTTT others(22): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG03195.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0164 a0001c0002t0003g0222 |
2 | 4 | 0.5000 | -29 | c.750 others(44): Show |
PRPF4 | ENSG00000136875.13 | transcript | ENST00000374198.5 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRR18_chr6_166300300_166313392 | 166313328 | CATGAAAG others(22): Show |
C | upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0000 | 1 | 420 | 0.0024 | -29 | c.-52 others(40): Show |
PRR18 | ENSG00000176381.6 | transcript | ENST00000322583.5 | protein_coding | 4937 | chr6 | TogoVar | |||||||
PRRG3_chrX_151690458_151710924 | 151703856 | GGTTTTTT others(22): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(55): Show |
a0001a0007a0008 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0012 others(25): Show |
58 | 225 | 0.2578 | -29 | c.*28 others(40): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 4/4 | 2824 | chrX | TogoVar | ||||||
PRRG3_chrX_151690458_151710924 | 151703887 | TTTTTTTT others(22): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01928.hp1 HG01952.hp1 HG02004.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0023 | a0001c0001t0003g0001 a0001c0001t0023g0010 |
8 | 333 | 0.0240 | -29 | c.*28 others(40): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 4/4 | 2856 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PRSS12_chr4_118275038_118358003 | 118299741 | TAAAATAA others(22): Show |
T | intron_variant | MODIFIER | NA18966.hp1 NA18987.hp1 NA19006.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 |
3 | 360 | 0.0083 | -29 | c.163 others(46): Show |
PRSS12 | ENSG00000164099.3 | transcript | ENST00000296498.3 | protein_coding | 8/12 | chr4 | TogoVar | |||||||
PRSS12_chr4_118275038_118358003 | 118299746 | TAAATAAA others(22): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00733.hp1 others(11): Show |
a0001a0002a0004 | a0001c0004a0002c0002a0004c0007 | a0001c0004t0001a0002c0002t0001a0004c0007t0001 | a0001c0004t0001g0255 a0002c0002t0001g0003 a0002c0002t0001g0008 others(8): Show |
14 | 340 | 0.0412 | -29 | c.163 others(46): Show |
PRSS12 | ENSG00000164099.3 | transcript | ENST00000296498.3 | protein_coding | 8/12 | chr4 | TogoVar | |||||||
PRSS12_chr4_118275038_118358003 | 118299764 | TTAAATAA others(22): Show |
T | intron_variant | MODIFIER | HG01346.hp2 HG01928.hp1 HG01978.hp1 others(6): Show |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0001a0002c0002t0001 | a0001c0004t0001g0230 a0002c0002t0001g0003 a0002c0002t0001g0018 others(2): Show |
9 | 354 | 0.0254 | -29 | c.163 others(46): Show |
PRSS12 | ENSG00000164099.3 | transcript | ENST00000296498.3 | protein_coding | 8/12 | chr4 | TogoVar | |||||||
PRUNE2_chr9_76606376_76911114 | 76791208 | TATACTGC others(22): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00621.hp2 others(32): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0001c0045others(13): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0020others(21): Show | a0001c0001t0001g0031 a0001c0001t0001g0095 a0001c0001t0001g0120 others(32): Show |
35 | 115 | 0.3043 | -29 | c.756 others(48): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 6/18 | chr9 | TogoVar | |||||||
PRUNE2_chr9_76606376_76911114 | 76791602 | CATTGGTA others(22): Show |
C | intron_variant | MODIFIER | HG01433.hp1 NA19074.hp1 |
a0001a0007 | a0001c0004a0007c0008 | a0001c0004t0001a0007c0008t0010 | a0001c0004t0001g0211 a0007c0008t0010g0044 |
2 | 238 | 0.0084 | -29 | c.756 others(48): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 6/18 | chr9 | TogoVar | |||||||
PSAPL1_chr4_7425285_7439930 | 7437898 | TGTCCACA others(22): Show |
T | upstream_gene_variant | MODIFIER | HG02135.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 454 | 0.0022 | -29 | c.-30 others(40): Show |
PSAPL1 | ENSG00000178597.7 | transcript | ENST00000319098.7 | protein_coding | 2969 | chr4 | TogoVar | |||||||
PSAPL1_chr4_7425285_7439930 | 7439389 | ACCAATCC others(22): Show |
A | upstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0000 | 1 | 454 | 0.0022 | -29 | c.-45 others(40): Show |
PSAPL1 | ENSG00000178597.7 | transcript | ENST00000319098.7 | protein_coding | 4460 | chr4 | TogoVar | |||||||
PSAPL1_chr4_7425285_7439930 | 7439832 | AACATGGC others(22): Show |
A | upstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 454 | 0.0022 | -29 | c.-49 others(40): Show |
PSAPL1 | ENSG00000178597.7 | transcript | ENST00000319098.7 | protein_coding | 4903 | chr4 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18760424 | AACCACCA others(22): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01070.hp2 HG01243.hp2 others(23): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0017a0001c0023others(10): Show | a0001c0001t0001a0001c0001t0016a0001c0001t0021others(20): Show | a0001c0001t0001g0056 a0001c0001t0001g0066 a0001c0001t0001g0206 others(23): Show |
26 | 226 | 0.1150 | -29 | c.217 others(48): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | |||||||
PSEN1_chr14_73131507_73228691 | 73202436 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0303 | 1 | 365 | 0.0027 | -29 | c.869 others(46): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSG4_chr19_43187702_43210638 | 43205079 | CCTTTTCT others(22): Show |
C | intron_variant | MODIFIER | HG01256.hp1 NA18944.hp1 NA18970.hp1 others(1): Show |
a0002a0020 | a0002c0002a0020c0038 | a0002c0002t0003a0020c0038t0006 | a0002c0002t0003g0177 a0002c0002t0003g0178 a0002c0002t0003g0179 others(1): Show |
4 | 260 | 0.0154 | -29 | c.64+ others(42): Show |
PSG4 | ENSG00000243137.8 | transcript | ENST00000405312.8 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
PSG7_chr19_42919132_42942207 | 42933283 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 414 | 0.0024 | -29 | c.430 others(46): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
PSMB2_chr1_35594541_35646526 | 35628589 | AAAAAAAA others(22): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0137 | 1 | 293 | 0.0034 | -29 | c.285 others(46): Show |
PSMB2 | ENSG00000126067.12 | transcript | ENST00000373237.4 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
PSMB2_chr1_35594541_35646526 | 35628591 | AAAAAAAT others(22): Show |
A | intron_variant | MODIFIER | HG03195.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0027 | a0001c0001t0025g0136 a0001c0001t0027g0068 |
2 | 289 | 0.0069 | -29 | c.285 others(46): Show |
PSMB2 | ENSG00000126067.12 | transcript | ENST00000373237.4 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
PSME4_chr2_53859069_53975993 | 53868526 | TATATAAT others(22): Show |
T | intron_variant | MODIFIER | HG01261.hp1 | a0009 | a0009c0031 | a0009c0031t0002 | a0009c0031t0002g0021 | 1 | 382 | 0.0026 | -29 | c.526 others(46): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 44/46 | chr2 | TogoVar | |||||||
PTBP1_chr19_792452_817312 | 811360 | CCAGGGCC others(22): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02486.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0030 | 2 | 386 | 0.0052 | -29 | c.*53 others(38): Show |
PTBP1 | ENSG00000011304.22 | transcript | ENST00000356948.11 | protein_coding | 15/15 | 536 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PTBP3_chr9_112213435_112338619 | 112231960 | AAGAGAAG others(22): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG01433.hp1 HG03942.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0068 a0001c0001t0003g0082 a0001c0001t0003g0084 others(4): Show |
7 | 326 | 0.0215 | -29 | c.102 others(46): Show |
PTBP3 | ENSG00000119314.16 | transcript | ENST00000374257.6 | protein_coding | 9/13 | chr9 | TogoVar | |||||||
PTK2B_chr8_27320552_27464386 | 27350991 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0317 | 1 | 228 | 0.0044 | -29 | c.-38 others(48): Show |
PTK2B | ENSG00000120899.18 | transcript | ENST00000346049.10 | protein_coding | 1/30 | chr8 | TogoVar | |||||||
PTK2B_chr8_27320552_27464386 | 27426558 | CAGACATT others(22): Show |
C | intron_variant | MODIFIER | NA18949.hp2 NA18968.hp2 NA18980.hp2 others(5): Show |
a0002a0008 | a0002c0003a0002c0004a0008c0020 | a0002c0003t0002a0002c0004t0002a0008c0020t0002 | a0002c0003t0002g0012 a0002c0004t0002g0001 a0002c0004t0002g0011 others(3): Show |
8 | 326 | 0.0245 | -29 | c.552 others(46): Show |
PTK2B | ENSG00000120899.18 | transcript | ENST00000346049.10 | protein_coding | 5/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PTK6_chr20_63523001_63542376 | 63524390 | GGTACCAG others(22): Show |
G | downstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 342 | 0.0029 | -29 | c.*51 others(40): Show |
PTK6 | ENSG00000101213.7 | transcript | ENST00000542869.3 | protein_coding | 3610 | chr20 | TogoVar | |||||||
PTK7_chr6_43071314_43166715 | 43157350 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02965.hp1 NA19043.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0162 a0002c0003t0002g0163 a0002c0003t0002g0178 |
3 | 269 | 0.0112 | -29 | c.272 others(48): Show |
PTK7 | ENSG00000112655.16 | transcript | ENST00000230419.9 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PTP4A2_chr1_31901421_31943368 | 31908135 | TTATATTA others(22): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01261.hp1 HG01952.hp1 HG02027.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0198 a0001c0001t0001g0299 others(3): Show |
6 | 261 | 0.0230 | -29 | c.*68 others(38): Show |
PTP4A2 | ENSG00000184007.22 | transcript | ENST00000647444.2 | protein_coding | 6/6 | 688 | chr1 | TogoVar | ||||||
PTPRD_chr9_8309246_10618002 | 8726589 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG03834.hp2 NA19240.hp2 |
a0001a0004 | a0001c0007a0004c0009 | a0001c0007t0021a0004c0009t0006 | a0001c0007t0021g0002 a0004c0009t0006g0007 |
2 | 24 | 0.0833 | -29 | c.64+ others(44): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 12/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 8919840 | GTGCATGT others(22): Show |
G | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0023 | 1 | 32 | 0.0313 | -29 | c.-10 others(50): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 11/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 9947504 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0008 | 1 | 34 | 0.0294 | -29 | c.-47 others(48): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 4/45 | chr9 | TogoVar | |||||||
PTPRO_chr12_15317508_15603331 | 15513110 | AGGAAGGA others(22): Show |
A | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0142 | 1 | 162 | 0.0062 | -29 | c.146 others(48): Show |
PTPRO | ENSG00000151490.15 | transcript | ENST00000281171.9 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PTPRQ_chr12_80439235_80685273 | 80558139 | TTTTCTTT others(22): Show |
T | intron_variant | MODIFIER | HG02572.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0147 | 1 | 175 | 0.0057 | -29 | c.428 others(48): Show |
PTPRQ | ENSG00000139304.16 | transcript | ENST00000644991.3 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PTPRS_chr19_5200508_5345812 | 5272595 | CAAAAAAA others(22): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02622.hp2 HG02630.hp1 others(4): Show |
a0001a0002 | a0001c0010a0001c0014a0001c0022others(2): Show | a0001c0010t0015a0001c0014t0001a0001c0014t0005others(3): Show | a0001c0010t0015g0185 a0001c0014t0001g0045 a0001c0014t0001g0171 others(4): Show |
7 | 20 | 0.3500 | -29 | c.379 others(44): Show |
PTPRS | ENSG00000105426.19 | transcript | ENST00000262963.11 | protein_coding | 4/37 | chr19 | TogoVar | |||||||
PUS7_chr7_105451503_105527271 | 105524767 | CCTGGGAG others(22): Show |
C | upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0332 | 1 | 348 | 0.0029 | -29 | c.-27 others(40): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 2497 | chr7 | TogoVar | |||||||
PVR_chr19_44638910_44671162 | 44665757 | TGGTGCCA others(22): Show |
T | 3_prime_UTR_variant | MODIFIER | NA18989.hp2 | a0002 | a0002c0002 | a0002c0002t0079 | a0002c0002t0079g0040 | 1 | 410 | 0.0024 | -29 | c.*39 others(40): Show |
PVR | ENSG00000073008.16 | transcript | ENST00000425690.8 | protein_coding | 8/8 | 3947 | chr19 | TogoVar | ||||||
PVR_chr19_44638910_44671162 | 44667876 | TAAATATA others(22): Show |
T | downstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0095 | a0001c0001t0095g0002 | 1 | 405 | 0.0025 | -29 | c.*60 others(40): Show |
PVR | ENSG00000073008.16 | transcript | ENST00000425690.8 | protein_coding | 1715 | chr19 | TogoVar | |||||||
PVR_chr19_44638910_44671162 | 44668226 | ATATTATA others(22): Show |
A | downstream_gene_variant | MODIFIER | HG00673.hp2 HG01255.hp2 HG02155.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0071 a0001c0001t0003g0131 others(9): Show |
18 | 410 | 0.0439 | -29 | c.*64 others(40): Show |
PVR | ENSG00000073008.16 | transcript | ENST00000425690.8 | protein_coding | 2065 | chr19 | TogoVar | |||||||
PWWP2B_chr10_132392200_132422859 | 132419480 | GGGGGCCT others(22): Show |
G | downstream_gene_variant | MODIFIER | HG01106.hp1 HG02258.hp1 |
a0003a0004 | a0003c0005a0004c0006 | a0003c0005t0001a0004c0006t0001 | a0003c0005t0001g0080 a0004c0006t0001g0069 |
2 | 291 | 0.0069 | -29 | c.*24 others(40): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 1622 | chr10 | TogoVar | |||||||
PWWP2B_chr10_132392200_132422859 | 132419595 | GGGGGCCT others(22): Show |
G | downstream_gene_variant | MODIFIER | HG02258.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0080 | 1 | 370 | 0.0027 | -29 | c.*25 others(40): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 1737 | chr10 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51577914 | AAAAGAAA others(22): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0017 | a0017c0017 | a0017c0017t0001 | a0017c0017t0001g0054 | 1 | 113 | 0.0088 | -29 | c.308 others(48): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 3/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51608033 | GAAAGAAA others(22): Show |
G | intron_variant | MODIFIER | HG01070.hp2 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0003 | 1 | 113 | 0.0088 | -29 | c.237 others(48): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 2/22 | chr8 | TogoVar | |||||||
PXMP2_chr12_132682587_132709985 | 132692576 | TAGTTAGT others(22): Show |
T | intron_variant | MODIFIER | HG03139.hp1 HG03471.hp1 |
a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0075 a0001c0005t0005g0076 |
2 | 348 | 0.0057 | -29 | c.236 others(46): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PXMP4_chr20_33697758_33725310 | 33718995 | AAGCGGTT others(22): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0008 | a0001c0008t0045 | a0001c0008t0045g0053 | 1 | 386 | 0.0026 | -29 | c.113 others(46): Show |
PXMP4 | ENSG00000101417.12 | transcript | ENST00000409299.8 | protein_coding | 1/3 | chr20 | TogoVar | |||||||
PYM1_chr12_55896413_55932894 | 55905876 | TTAGATAT others(22): Show |
T | intron_variant | MODIFIER | HG01928.hp1 HG02040.hp2 HG04228.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0004 a0001c0001t0001g0138 a0001c0001t0008g0084 others(1): Show |
4 | 225 | 0.0178 | -29 | c.38- others(44): Show |
PYM1 | ENSG00000170473.17 | transcript | ENST00000408946.7 | protein_coding | 1/2 | chr12 | TogoVar | |||||||
PYROXD2_chr10_98378568_98420182 | 98407675 | AGACTGTC others(22): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(180): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0017a0001c0018others(4): Show | a0001c0001t0001a0001c0017t0001a0001c0018t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(110): Show |
183 | 416 | 0.4399 | -29 | c.242 others(42): Show |
PYROXD2 | ENSG00000119943.13 | transcript | ENST00000370575.5 | protein_coding | 3/15 | chr10 | TogoVar | |||||||
PYROXD2_chr10_98378568_98420182 | 98407744 | AGGGGTCA others(22): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(186): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0017others(5): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(115): Show |
189 | 365 | 0.5178 | -29 | c.242 others(43): Show |
PYROXD2 | ENSG00000119943.13 | transcript | ENST00000370575.5 | protein_coding | 3/15 | chr10 | TogoVar | |||||||
R3HCC1L_chr10_98129657_98249897 | 98205313 | AACTAGAA others(22): Show |
A | intron_variant | MODIFIER | HG03834.hp2 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0236 a0001c0001t0002g0274 |
2 | 386 | 0.0052 | -29 | c.-14 others(46): Show |
R3HCC1L | ENSG00000166024.14 | transcript | ENST00000298999.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492487 | TCCCGGGA others(22): Show |
T | intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0137 | 1 | 192 | 0.0052 | -29 | c.126 others(48): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | chr16 | TogoVar | |||||||
RAB11FIP4_chr17_31386675_31543211 | 31445556 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG02698.hp1 HG03831.hp2 NA19009.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0018a0001c0001t0031 | a0001c0001t0003g0120 a0001c0001t0003g0180 a0001c0001t0018g0122 others(1): Show |
4 | 304 | 0.0132 | -29 | c.336 others(48): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RAB11FIP4_chr17_31386675_31543211 | 31445560 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 263 | 0.0038 | -29 | c.336 others(48): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RAB11FIP4_chr17_31386675_31543211 | 31445564 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0231 | 1 | 304 | 0.0033 | -29 | c.336 others(48): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |