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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PTK6_chr20_63523001_63542376 | 63535904 | G | GCCCCCCC others(41): Show |
intron_variant | MODIFIER | HG02897.hp1 HG03195.hp1 |
a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0186 a0001c0002t0012g0222 |
2 | 279 | 0.0072 | 48 | c.231 others(63): Show |
PTK6 | ENSG00000101213.7 | transcript | ENST00000542869.3 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
PTN_chr7_137222341_137348733 | 137324433 | A | AAAAAAAA others(41): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 62 | 0.0161 | 48 | c.-2+ others(65): Show |
PTN | ENSG00000105894.13 | transcript | ENST00000348225.7 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
PTPN12_chr7_77532295_77645069 | 77533781 | T | TGAGCGGC others(41): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 HG01169.hp1 HG01175.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0084 |
3 | 252 | 0.0119 | 48 | c.-37 others(59): Show |
PTPN12 | ENSG00000127947.16 | transcript | ENST00000248594.11 | protein_coding | 3513 | chr7 | TogoVar | |||||||
PTPN12_chr7_77532295_77645069 | 77533781 | T | TGGGCGGC others(41): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0088 | 1 | 250 | 0.0040 | 48 | c.-37 others(59): Show |
PTPN12 | ENSG00000127947.16 | transcript | ENST00000248594.11 | protein_coding | 3513 | chr7 | TogoVar | |||||||
PTPN12_chr7_77532295_77645069 | 77533798 | G | GGGGGGCT others(41): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(104): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0005others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0017 others(104): Show |
107 | 303 | 0.3531 | 48 | c.-37 others(59): Show |
PTPN12 | ENSG00000127947.16 | transcript | ENST00000248594.11 | protein_coding | 3496 | chr7 | TogoVar | |||||||
PTPN14_chr1_214343700_214556602 | 214402663 | A | AAGGGAGG others(41): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0055 | 1 | 206 | 0.0049 | 48 | c.581 others(63): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 6/18 | chr1 | TogoVar | |||||||
PTPN14_chr1_214343700_214556602 | 214402667 | A | AAGGAAGG others(41): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG01069.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0156a0001c0002t0006a0001c0002t0007others(6): Show | a0001c0001t0156g0241 a0001c0002t0006g0070 a0001c0002t0007g0060 others(9): Show |
12 | 73 | 0.1644 | 48 | c.581 others(63): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 6/18 | chr1 | TogoVar | |||||||
PTPN14_chr1_214343700_214556602 | 214402667 | A | AAGGGAGG others(41): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00438.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0002a0001c0001t0003a0001c0001t0044others(8): Show | a0001c0001t0002g0059 a0001c0001t0003g0075 a0001c0001t0044g0021 others(10): Show |
13 | 74 | 0.1757 | 48 | c.581 others(63): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 6/18 | chr1 | TogoVar | |||||||
PTPN14_chr1_214343700_214556602 | 214402671 | A | AAGGAAGG others(41): Show |
intron_variant | MODIFIER | HG02300.hp2 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0134 | a0001c0001t0005g0097 a0001c0001t0134g0203 |
2 | 151 | 0.0132 | 48 | c.581 others(63): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 6/18 | chr1 | TogoVar | |||||||
PTPN14_chr1_214343700_214556602 | 214402671 | A | AAGGAAGG others(41): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01106.hp1 HG02055.hp1 |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0060a0001c0001t0104 | a0001c0001t0032g0061 a0001c0001t0060g0121 a0001c0001t0104g0123 |
3 | 152 | 0.0197 | 48 | c.581 others(63): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 6/18 | chr1 | TogoVar | |||||||
PTPN14_chr1_214343700_214556602 | 214402671 | A | AAGGGAGG others(41): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0003 | a0003c0005 | a0003c0005t0063 | a0003c0005t0063g0012 | 1 | 150 | 0.0067 | 48 | c.581 others(63): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 6/18 | chr1 | TogoVar | |||||||
PTPN14_chr1_214343700_214556602 | 214402675 | A | AAGGAAGG others(41): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0018 | a0001c0018t0013 | a0001c0018t0013g0025 | 1 | 198 | 0.0051 | 48 | c.581 others(63): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 6/18 | chr1 | TogoVar | |||||||
PTPN14_chr1_214343700_214556602 | 214402675 | A | AAGGAAGG others(41): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02897.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0118a0001c0001t0119a0001c0001t0120others(1): Show | a0001c0001t0118g0194 a0001c0001t0119g0196 a0001c0001t0120g0199 others(1): Show |
4 | 201 | 0.0199 | 48 | c.581 others(63): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 6/18 | chr1 | TogoVar | |||||||
PTPN18_chr2_130351056_130380405 | 130361504 | T | TTTTCTTT others(41): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0096 | 1 | 368 | 0.0027 | 48 | c.414 others(65): Show |
PTPN18 | ENSG00000072135.13 | transcript | ENST00000175756.10 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PTPN18_chr2_130351056_130380405 | 130361512 | C | CTCTTTCT others(41): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 NA18977.hp1 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0013 a0002c0003t0003g0093 |
5 | 123 | 0.0407 | 48 | c.414 others(65): Show |
PTPN18 | ENSG00000072135.13 | transcript | ENST00000175756.10 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PTPN21_chr14_88460778_88560007 | 88517652 | G | GTATATAT others(41): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00673.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011 | a0001c0001t0001g0142 a0001c0001t0003g0001 a0001c0001t0003g0108 others(35): Show |
40 | 73 | 0.5479 | 48 | c.181 others(63): Show |
PTPN21 | ENSG00000070778.13 | transcript | ENST00000556564.6 | protein_coding | 2/18 | chr14 | TogoVar | |||||||
PTPN2_chr18_12787152_12889237 | 12807586 | A | AAAAAAAA others(41): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01358.hp2 HG01928.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023 | a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0023g0213 |
3 | 60 | 0.0500 | 48 | c.859 others(65): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 7/8 | chr18 | TogoVar | |||||||
PTPN2_chr18_12787152_12889237 | 12807586 | A | AAAAAAAA others(41): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 a0001c0001t0001g0193 |
2 | 59 | 0.0339 | 48 | c.859 others(65): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 7/8 | chr18 | TogoVar | |||||||
PTPN2_chr18_12787152_12889237 | 12807586 | A | AAAAAAAA others(41): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 58 | 0.0172 | 48 | c.859 others(65): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 7/8 | chr18 | TogoVar | |||||||
PTPN2_chr18_12787152_12889237 | 12807586 | A | AAAAAAAA others(41): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 58 | 0.0172 | 48 | c.859 others(65): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 7/8 | chr18 | TogoVar | |||||||
PTPRA_chr20_2868481_3043669 | 3018857 | A | ACCCCCCC others(41): Show |
intron_variant | MODIFIER | HG00280.hp2 HG03704.hp2 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 a0001c0001t0001g0070 a0001c0001t0001g0095 |
3 | 354 | 0.0085 | 48 | c.104 others(65): Show |
PTPRA | ENSG00000132670.21 | transcript | ENST00000399903.7 | protein_coding | 13/23 | chr20 | TogoVar | |||||||
PTPRA_chr20_2868481_3043669 | 3018858 | T | TCCCCCCA others(41): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(276): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(18): Show | a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 others(275): Show |
279 | 350 | 0.7971 | 48 | c.104 others(65): Show |
PTPRA | ENSG00000132670.21 | transcript | ENST00000399903.7 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PTPRD_chr9_8309246_10618002 | 8557455 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0010 | a0001c0010t0017 | a0001c0010t0017g0016 | 1 | 18 | 0.0556 | 48 | c.353 others(67): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 14/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 8929747 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0008 | 1 | 30 | 0.0333 | 48 | c.-10 others(69): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 11/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 10512032 | A | ATACGTGT others(41): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 30 | 0.0333 | 48 | c.-60 others(71): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 2/45 | chr9 | TogoVar | |||||||
PTPRG_chr3_61556571_62302609 | 61610758 | C | CCTCCCTC others(41): Show |
intron_variant | MODIFIER | HG03130.hp2 NA19240.hp1 |
a0001a0009 | a0001c0001a0009c0018 | a0001c0001t0006a0009c0018t0006 | a0001c0001t0006g0036 a0009c0018t0006g0039 |
2 | 91 | 0.0220 | 48 | c.85+ others(65): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRG_chr3_61556571_62302609 | 61621051 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0002 | a0002c0003 | a0002c0003t0014 | a0002c0003t0014g0007 | 1 | 34 | 0.0294 | 48 | c.85+ others(65): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRG_chr3_61556571_62302609 | 61926609 | C | CTCCCTCC others(41): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0016 | 1 | 54 | 0.0185 | 48 | c.191 others(67): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRM_chr18_7562316_8411856 | 8289539 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0078 | 1 | 70 | 0.0143 | 48 | c.275 others(67): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 19/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PTPRM_chr18_7562316_8411856 | 8289541 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0071 | 1 | 80 | 0.0125 | 48 | c.275 others(67): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 19/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PTPRM_chr18_7562316_8411856 | 8289567 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02896.hp1 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0004 | a0001c0002t0001g0065 a0001c0005t0004g0068 |
2 | 79 | 0.0253 | 48 | c.275 others(67): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 19/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PTPRQ_chr12_80439235_80685273 | 80558111 | T | TTTTCTTT others(41): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0056 | a0056c0067 | a0056c0067t0002 | a0056c0067t0002g0004 | 1 | 173 | 0.0058 | 48 | c.428 others(67): Show |
PTPRQ | ENSG00000139304.16 | transcript | ENST00000644991.3 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PTPRT_chr20_42067756_43194906 | 42086753 | A | AAAATATA others(41): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0004 | a0002c0004t0024 | a0002c0004t0024g0006 | 1 | 50 | 0.0200 | 48 | c.384 others(65): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 27/30 | chr20 | TogoVar | |||||||
PTPRT_chr20_42067756_43194906 | 42633972 | A | AATATATA others(41): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0025 | a0001c0025t0015 | a0001c0025t0015g0028 | 1 | 57 | 0.0175 | 48 | c.115 others(69): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 7/30 | chr20 | TogoVar | |||||||
PUDP_chrX_7043920_7153153 | 7098835 | G | GGGCCAAG others(41): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01070.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0005a0002c0003t0002 | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0164 others(8): Show |
11 | 257 | 0.0428 | 48 | c.280 others(65): Show |
PUDP | ENSG00000130021.15 | transcript | ENST00000381077.10 | protein_coding | 2/3 | chrX | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 30972447 | G | GGGAGGGG others(41): Show |
intron_variant | MODIFIER | NA18612.hp1 NA19011.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0238 a0001c0002t0003g0321 |
2 | 161 | 0.0124 | 48 | c.150 others(67): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 10/21 | chr1 | TogoVar | |||||||
PUS7_chr7_105451503_105527271 | 105455576 | A | AATATATA others(41): Show |
downstream_gene_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0346 | 1 | 6 | 0.1667 | 48 | c.*22 others(59): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 926 | chr7 | TogoVar | |||||||
PUS7_chr7_105451503_105527271 | 105456102 | T | TATATATA others(41): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0285 | 1 | 11 | 0.0909 | 48 | c.*16 others(59): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 400 | chr7 | TogoVar | |||||||
PUS7_chr7_105451503_105527271 | 105456102 | T | TATATATA others(41): Show |
downstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 11 | 0.0909 | 48 | c.*16 others(59): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 400 | chr7 | TogoVar | |||||||
PWWP2A_chr5_160086339_160124450 | 160109766 | A | AAAATATA others(41): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 378 | 0.0026 | 48 | c.584 others(65): Show |
PWWP2A | ENSG00000170234.13 | transcript | ENST00000307063.9 | protein_coding | 1/1 | chr5 | TogoVar | |||||||
PWWP2A_chr5_160086339_160124450 | 160109784 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0106 | 1 | 369 | 0.0027 | 48 | c.584 others(65): Show |
PWWP2A | ENSG00000170234.13 | transcript | ENST00000307063.9 | protein_coding | 1/1 | chr5 | TogoVar | |||||||
PWWP3A_chr19_1349959_1383429 | 1375566 | A | AATATATA others(41): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00639.hp1 others(69): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0014others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0008 others(50): Show |
72 | 128 | 0.5625 | 48 | c.207 others(65): Show |
PWWP3A | ENSG00000160953.17 | transcript | ENST00000591337.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PXDN_chr2_1626887_1749515 | 1658067 | T | TCTCTCTC others(41): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0005 | a0001c0005t0024 | a0001c0005t0024g0203 | 1 | 242 | 0.0041 | 48 | c.183 others(67): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 14/22 | chr2 | TogoVar | |||||||
PYDC2_chr3_191456163_191466456 | 191463079 | T | TTTCTTTC others(41): Show |
downstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 431 | 0.0023 | 48 | c.*16 others(59): Show |
PYDC2 | ENSG00000253548.1 | transcript | ENST00000518817.1 | protein_coding | 1624 | chr3 | TogoVar | |||||||
PYDC2_chr3_191456163_191466456 | 191463081 | T | TCTTTCTT others(41): Show |
downstream_gene_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 430 | 0.0023 | 48 | c.*16 others(59): Show |
PYDC2 | ENSG00000253548.1 | transcript | ENST00000518817.1 | protein_coding | 1626 | chr3 | TogoVar | |||||||
PYGO1_chr15_55533884_55593345 | 55585160 | T | TAATTGCT others(41): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0353 | 1 | 410 | 0.0024 | 48 | c.49+ others(63): Show |
PYGO1 | ENSG00000171016.13 | transcript | ENST00000563719.4 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
PYM1_chr12_55896413_55932894 | 55905863 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01099.hp1 NA19058.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0148 a0001c0001t0001g0188 |
3 | 258 | 0.0116 | 48 | c.38- others(63): Show |
PYM1 | ENSG00000170473.17 | transcript | ENST00000408946.7 | protein_coding | 1/2 | chr12 | TogoVar | |||||||
QPCTL_chr19_45687666_45708987 | 45697978 | C | CACAACTC others(41): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 444 | 0.0023 | 48 | c.634 others(63): Show |
QPCTL | ENSG00000011478.13 | transcript | ENST00000012049.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
QPCT_chr2_37339630_37378322 | 37347170 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02647.hp2 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 |
3 | 285 | 0.0105 | 48 | c.120 others(65): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 511351 | G | GGCCCGCC others(41): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01261.hp2 HG02145.hp2 others(13): Show |
a0001a0002 | a0001c0002a0002c0018 | a0001c0002t0009a0001c0002t0019a0001c0002t0026others(5): Show | a0001c0002t0009g0040 a0001c0002t0009g0041 a0001c0002t0009g0084 others(13): Show |
16 | 291 | 0.0550 | 48 | c.164 others(65): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |