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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PTPRD_chr9_8309246_10618002 | 9982478 | GTGTGTGT others(2): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG03225.hp2 |
a0001 | a0001c0003a0001c0013a0001c0014 | a0001c0003t0004a0001c0013t0012a0001c0014t0025 | a0001c0003t0004g0027 a0001c0013t0012g0014 a0001c0014t0025g0033 |
3 | 24 | 0.1250 | -9 | c.-47 others(30): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 4/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 10125423 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG01981.hp1 HG02257.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0018others(1): Show | a0001c0001t0002a0001c0003t0004a0001c0018t0004others(1): Show | a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0003t0004g0027 others(2): Show |
5 | 15 | 0.3333 | -9 | c.-54 others(30): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 3/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 10223670 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG02683.hp2 HG03225.hp2 NA19030.hp2 |
a0001 | a0001c0003a0001c0004a0001c0006 | a0001c0003t0004a0001c0004t0018a0001c0006t0026 | a0001c0003t0004g0027 a0001c0004t0018g0015 a0001c0006t0026g0034 |
3 | 14 | 0.2143 | -9 | c.-54 others(32): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 3/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 10538654 | CATATATA others(2): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG02257.hp1 HG02559.hp1 others(1): Show |
a0001 | a0001c0001a0001c0011a0001c0012others(1): Show | a0001c0001t0002a0001c0011t0005a0001c0012t0016others(1): Show | a0001c0001t0002g0013 a0001c0011t0005g0021 a0001c0012t0016g0028 others(1): Show |
4 | 34 | 0.1176 | -9 | c.-60 others(30): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 2/45 | chr9 | TogoVar | |||||||
PTPRE_chr10_127902103_128090855 | 128002683 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01074.hp1 HG01257.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0162 a0001c0001t0001g0202 a0001c0001t0001g0285 others(16): Show |
20 | 46 | 0.4348 | -9 | c.-8+ others(26): Show |
PTPRE | ENSG00000132334.17 | transcript | ENST00000254667.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PTPRG_chr3_61556571_62302609 | 61817146 | CATATATA others(2): Show |
C | intron_variant | MODIFIER | NA18522.hp2 NA19240.hp2 |
a0004a0006 | a0004c0006a0006c0007 | a0004c0006t0002a0006c0007t0004 | a0004c0006t0002g0081 a0006c0007t0004g0033 |
2 | 94 | 0.0213 | -9 | c.190 others(28): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRG_chr3_61556571_62302609 | 61939928 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00738.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0053 others(9): Show |
12 | 21 | 0.5714 | -9 | c.191 others(28): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRG_chr3_61556571_62302609 | 61995080 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00735.hp1 others(34): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0008others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0030 others(34): Show |
37 | 86 | 0.4302 | -9 | c.370 others(26): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRG_chr3_61556571_62302609 | 62036044 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01099.hp1 HG01255.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0008t0005others(3): Show | a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0001g0055 others(7): Show |
10 | 77 | 0.1299 | -9 | c.519 others(28): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRG_chr3_61556571_62302609 | 62074352 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01071.hp1 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0006 a0001c0001t0001g0034 a0001c0001t0001g0044 others(15): Show |
18 | 61 | 0.2951 | -9 | c.520 others(26): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRH_chr19_55176247_55214501 | 55187360 | AGAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02897.hp1 NA19011.hp1 others(2): Show |
a0002a0012a0014others(1): Show | a0002c0018a0012c0022a0014c0035others(1): Show | a0002c0018t0009a0012c0022t0003a0014c0035t0001others(1): Show | a0002c0018t0009g0114 a0012c0022t0003g0128 a0014c0035t0001g0108 others(2): Show |
5 | 375 | 0.0133 | -9 | c.256 others(26): Show |
PTPRH | ENSG00000080031.10 | transcript | ENST00000376350.8 | protein_coding | 14/19 | chr19 | TogoVar | |||||||
PTPRJ_chr11_47975559_48175839 | 48021412 | TAAATAAA others(2): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG01978.hp2 HG02280.hp1 others(25): Show |
a0001a0002a0004others(8): Show | a0001c0003a0001c0004a0001c0006others(10): Show | a0001c0003t0001a0001c0003t0002a0001c0004t0004others(18): Show | a0001c0003t0001g0107 a0001c0003t0002g0100 a0001c0004t0004g0033 others(25): Show |
28 | 214 | 0.1308 | -9 | c.96+ others(26): Show |
PTPRJ | ENSG00000149177.15 | transcript | ENST00000418331.7 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PTPRJ_chr11_47975559_48175839 | 48066554 | GTATTATT others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp2 HG01071.hp1 others(30): Show |
a0001a0002a0003others(3): Show | a0001c0003a0001c0004a0001c0005others(6): Show | a0001c0003t0001a0001c0004t0004a0001c0004t0012others(16): Show | a0001c0003t0001g0091 a0001c0003t0001g0093 a0001c0004t0004g0134 others(30): Show |
33 | 56 | 0.5893 | -9 | c.97- others(26): Show |
PTPRJ | ENSG00000149177.15 | transcript | ENST00000418331.7 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PTPRK_chr6_127963785_128525599 | 128029638 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0006others(1): Show | a0001c0001t0001g0023 a0001c0002t0001g0026 a0001c0007t0006g0001 others(1): Show |
4 | 20 | 0.2000 | -9 | c.219 others(30): Show |
PTPRK | ENSG00000152894.15 | transcript | ENST00000368226.9 | protein_coding | 13/29 | chr6 | TogoVar | |||||||
PTPRK_chr6_127963785_128525599 | 128169783 | ATGTGTGT others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG02559.hp2 NA21309.hp2 |
a0001 | a0001c0012a0001c0013a0001c0014 | a0001c0012t0001a0001c0013t0002a0001c0014t0007 | a0001c0012t0001g0049 a0001c0013t0002g0045 a0001c0014t0007g0005 |
3 | 13 | 0.2308 | -9 | c.116 others(30): Show |
PTPRK | ENSG00000152894.15 | transcript | ENST00000368226.9 | protein_coding | 7/29 | chr6 | TogoVar | |||||||
PTPRM_chr18_7562316_8411856 | 7602905 | AATTATTA others(2): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02809.hp2 HG02896.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0013others(2): Show | a0001c0001t0001a0001c0005t0001a0001c0013t0002others(2): Show | a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0005t0001g0009 others(3): Show |
6 | 27 | 0.2222 | -9 | c.73+ others(26): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 1/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PTPRM_chr18_7562316_8411856 | 7833743 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG01884.hp1 HG02258.hp1 others(13): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0003a0001c0001t0004a0001c0002t0001others(11): Show | a0001c0001t0003g0072 a0001c0001t0003g0075 a0001c0001t0004g0069 others(13): Show |
16 | 18 | 0.8889 | -9 | c.197 others(28): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PTPRM_chr18_7562316_8411856 | 8295402 | GGAGAGAA others(2): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01891.hp1 HG01891.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(13): Show | a0001c0001t0001g0008 a0001c0001t0001g0058 a0001c0001t0002g0004 others(19): Show |
22 | 80 | 0.2750 | -9 | c.275 others(26): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 19/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PTPRM_chr18_7562316_8411856 | 8372056 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG02451.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(9): Show | a0001c0001t0001g0059 a0001c0001t0002g0004 a0001c0002t0001g0015 others(10): Show |
13 | 43 | 0.3023 | -9 | c.317 others(28): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 24/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PTPRO_chr12_15317508_15603331 | 15352660 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG01123.hp2 HG01169.hp1 HG01515.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(22): Show |
25 | 162 | 0.1543 | -9 | c.75+ others(26): Show |
PTPRO | ENSG00000151490.15 | transcript | ENST00000281171.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PTPRQ_chr12_80439235_80685273 | 80552643 | AATTATAT others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00642.hp2 others(14): Show |
a0001a0002a0009others(5): Show | a0001c0001a0002c0002a0002c0029others(6): Show | a0001c0001t0001a0002c0002t0003a0002c0029t0001others(7): Show | a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0059 others(14): Show |
17 | 115 | 0.1478 | -9 | c.428 others(28): Show |
PTPRQ | ENSG00000139304.16 | transcript | ENST00000644991.3 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PTPRQ_chr12_80439235_80685273 | 80627345 | TATAATAA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00639.hp2 others(24): Show |
a0001a0003a0004others(10): Show | a0001c0001a0001c0025a0003c0014others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(15): Show | a0001c0001t0001g0045 a0001c0001t0001g0070 a0001c0001t0001g0083 others(24): Show |
27 | 116 | 0.2328 | -9 | c.568 others(28): Show |
PTPRQ | ENSG00000139304.16 | transcript | ENST00000644991.3 | protein_coding | 33/44 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PTPRR_chr12_70633079_70925738 | 70665364 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02622.hp1 HG02647.hp2 others(2): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0002c0002t0001a0005c0006t0001 | a0001c0001t0001g0114 a0002c0002t0001g0167 a0002c0002t0001g0199 others(2): Show |
5 | 20 | 0.2500 | -9 | c.149 others(28): Show |
PTPRR | ENSG00000153233.13 | transcript | ENST00000283228.7 | protein_coding | 10/13 | chr12 | TogoVar | |||||||
PTPRR_chr12_70633079_70925738 | 70795913 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02970.hp1 HG03225.hp1 others(2): Show |
a0002a0003 | a0002c0002a0002c0010a0003c0003 | a0002c0002t0001a0002c0002t0003a0002c0010t0001others(1): Show | a0002c0002t0001g0018 a0002c0002t0001g0021 a0002c0002t0003g0045 others(2): Show |
5 | 23 | 0.2174 | -9 | c.358 others(28): Show |
PTPRR | ENSG00000153233.13 | transcript | ENST00000283228.7 | protein_coding | 2/13 | chr12 | TogoVar | |||||||
PTPRS_chr19_5200508_5345812 | 5313940 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01192.hp1 HG02004.hp1 others(3): Show |
a0001 | a0001c0002a0001c0005a0001c0007others(1): Show | a0001c0002t0003a0001c0005t0018a0001c0007t0001others(1): Show | a0001c0002t0003g0014 a0001c0002t0003g0144 a0001c0005t0018g0211 others(3): Show |
6 | 70 | 0.0857 | -9 | c.-95 others(28): Show |
PTPRS | ENSG00000105426.19 | transcript | ENST00000262963.11 | protein_coding | 1/37 | chr19 | TogoVar | |||||||
PTPRS_chr19_5200508_5345812 | 5315350 | GGTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00735.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0021others(6): Show | a0001c0001t0001g0013 a0001c0001t0001g0267 a0001c0001t0001g0268 others(11): Show |
14 | 155 | 0.0903 | -9 | c.-95 others(28): Show |
PTPRS | ENSG00000105426.19 | transcript | ENST00000262963.11 | protein_coding | 1/37 | chr19 | TogoVar | |||||||
PTPRS_chr19_5200508_5345812 | 5324226 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG01081.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0027others(4): Show | a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0037 others(14): Show |
17 | 156 | 0.1090 | -9 | c.-95 others(28): Show |
PTPRS | ENSG00000105426.19 | transcript | ENST00000262963.11 | protein_coding | 1/37 | chr19 | TogoVar | |||||||
PTPRT_chr20_42067756_43194906 | 42633985 | TTATATTA others(2): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01496.hp1 HG03017.hp1 |
a0001a0002 | a0001c0003a0002c0001a0002c0005 | a0001c0003t0002a0002c0001t0003a0002c0005t0012 | a0001c0003t0002g0043 a0002c0001t0003g0008 a0002c0005t0012g0010 |
3 | 62 | 0.0484 | -9 | c.115 others(30): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 7/30 | chr20 | TogoVar | |||||||
PTPRT_chr20_42067756_43194906 | 42717181 | TATAATAA others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG02109.hp2 NA20905.hp1 others(1): Show |
a0001a0002 | a0001c0030a0002c0001a0002c0016 | a0001c0030t0001a0002c0001t0002a0002c0001t0026others(1): Show | a0001c0030t0001g0035 a0002c0001t0002g0015 a0002c0001t0026g0012 others(1): Show |
4 | 13 | 0.3077 | -9 | c.860 others(28): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 6/30 | chr20 | TogoVar | |||||||
PTPRT_chr20_42067756_43194906 | 42757052 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01109.hp2 HG01261.hp2 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0007a0001c0008others(11): Show | a0001c0003t0018a0001c0007t0001a0001c0008t0005others(12): Show | a0001c0003t0018g0046 a0001c0007t0001g0061 a0001c0008t0005g0037 others(12): Show |
15 | 53 | 0.2830 | -9 | c.685 others(24): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 5/30 | chr20 | TogoVar | |||||||
PTPRZ1_chr7_121868161_122067036 | 121935543 | TTTTTGTT others(2): Show |
T | intron_variant | MODIFIER | HG02129.hp1 NA18951.hp1 NA18968.hp2 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0006a0003c0003others(1): Show | a0001c0001t0001a0002c0006t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0309 a0002c0006t0001g0088 a0003c0003t0001g0146 others(5): Show |
8 | 310 | 0.0258 | -9 | c.124 others(26): Show |
PTPRZ1 | ENSG00000106278.12 | transcript | ENST00000393386.7 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PTS_chr11_112221428_112238973 | 112231968 | AAAAGAAA others(2): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01099.hp2 HG01891.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0023 others(1): Show |
8 | 402 | 0.0199 | -9 | c.244 others(26): Show |
PTS | ENSG00000150787.8 | transcript | ENST00000280362.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PTTG1IP_chr21_44844598_44878690 | 44870525 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0264 a0001c0001t0002g0198 a0001c0001t0006g0016 others(22): Show |
30 | 74 | 0.4054 | -9 | c.115 others(26): Show |
PTTG1IP | ENSG00000183255.12 | transcript | ENST00000330938.8 | protein_coding | 1/5 | chr21 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 30999606 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00639.hp2 others(59): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0014 a0001c0001t0001g0036 a0001c0001t0001g0044 others(59): Show |
62 | 66 | 0.9394 | -9 | c.721 others(26): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 5/21 | chr1 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 31056609 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00621.hp1 others(81): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 others(81): Show |
84 | 85 | 0.9882 | -9 | c.363 others(26): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 2/21 | chr1 | TogoVar | |||||||
PUS7_chr7_105451503_105527271 | 105467034 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01433.hp1 HG01891.hp2 HG02258.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0238 a0001c0001t0001g0275 a0001c0003t0003g0207 others(3): Show |
6 | 77 | 0.0779 | -9 | c.152 others(28): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 12/15 | chr7 | TogoVar | |||||||
PUS7_chr7_105451503_105527271 | 105496761 | AAAGTATT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(158): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(158): Show |
161 | 348 | 0.4626 | -9 | c.731 others(26): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 5/15 | chr7 | TogoVar | |||||||
PVALB_chr22_36795703_36822035 | 36821802 | TGTTTGTT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02622.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0129 a0001c0001t0002g0019 a0001c0001t0002g0033 others(4): Show |
9 | 390 | 0.0231 | -9 | c.-48 others(20): Show |
PVALB | ENSG00000100362.13 | transcript | ENST00000417718.7 | protein_coding | 4768 | chr22 | TogoVar | |||||||
PVR_chr19_44638910_44671162 | 44668476 | ATATATAT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01256.hp1 HG02258.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0009others(3): Show | a0001c0001t0003g0157 a0001c0001t0008g0024 a0001c0001t0009g0001 others(4): Show |
7 | 409 | 0.0171 | -9 | c.*66 others(20): Show |
PVR | ENSG00000073008.16 | transcript | ENST00000425690.8 | protein_coding | 2315 | chr19 | TogoVar | |||||||
PWWP2A_chr5_160086339_160124450 | 160109769 | AAAAAAAT others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00621.hp2 others(12): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0002g0032 a0001c0001t0002g0199 a0001c0001t0002g0202 others(12): Show |
15 | 343 | 0.0437 | -9 | c.584 others(26): Show |
PWWP2A | ENSG00000170234.13 | transcript | ENST00000307063.9 | protein_coding | 1/1 | chr5 | TogoVar | |||||||
PWWP2A_chr5_160086339_160124450 | 160109771 | AAAAATAT others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG01167.hp2 HG01975.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0208 others(10): Show |
13 | 360 | 0.0361 | -9 | c.584 others(26): Show |
PWWP2A | ENSG00000170234.13 | transcript | ENST00000307063.9 | protein_coding | 1/1 | chr5 | TogoVar | |||||||
PWWP3A_chr19_1349959_1383429 | 1375521 | CATATAAT others(2): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02895.hp1 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0231 a0001c0001t0006g0261 a0001c0001t0006g0262 others(1): Show |
4 | 408 | 0.0098 | -9 | c.207 others(26): Show |
PWWP3A | ENSG00000160953.17 | transcript | ENST00000591337.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PXDNL_chr8_51314577_51814445 | 51338182 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG01109.hp1 others(29): Show |
a0002a0005a0006others(9): Show | a0002c0002a0002c0021a0002c0037others(12): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(15): Show | a0002c0002t0001g0023 a0002c0002t0001g0028 a0002c0002t0001g0039 others(29): Show |
32 | 91 | 0.3516 | -9 | c.414 others(28): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 21/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51433209 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02897.hp1 HG03209.hp1 others(1): Show |
a0010a0022a0029 | a0010c0012a0010c0045a0022c0048others(1): Show | a0010c0012t0003a0010c0045t0001a0022c0048t0001others(1): Show | a0010c0012t0003g0012 a0010c0045t0001g0052 a0022c0048t0001g0069 others(1): Show |
4 | 39 | 0.1026 | -9 | c.152 others(28): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 12/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51486783 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01109.hp2 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 a0001c0001t0002g0114 |
2 | 116 | 0.0172 | -9 | c.453 others(26): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 5/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51505330 | TGCTGGTA others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00673.hp1 others(60): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0046a0002c0002others(26): Show | a0001c0001t0002a0001c0001t0003a0001c0046t0001others(32): Show | a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0110 others(60): Show |
63 | 120 | 0.5250 | -9 | c.381 others(26): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 4/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51577907 | GAGAAAGA others(2): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG01070.hp1 HG02818.hp2 |
a0003a0004 | a0003c0003a0003c0033a0004c0041 | a0003c0003t0001a0003c0033t0001a0004c0041t0001 | a0003c0003t0001g0051 a0003c0033t0001g0036 a0004c0041t0001g0057 |
3 | 120 | 0.0250 | -9 | c.308 others(28): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 3/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51634905 | GAATCATA others(2): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01167.hp2 others(22): Show |
a0001a0002a0003others(12): Show | a0001c0011a0002c0002a0003c0005others(13): Show | a0001c0011t0003a0002c0002t0001a0002c0002t0003others(16): Show | a0001c0011t0003g0008 a0002c0002t0001g0067 a0002c0002t0001g0068 others(22): Show |
25 | 120 | 0.2083 | -9 | c.236 others(28): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 2/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51744956 | GAAAGAAA others(2): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG03098.hp2 |
a0002a0016 | a0002c0002a0016c0025 | a0002c0002t0001a0016c0025t0001 | a0002c0002t0001g0028 a0016c0025t0001g0027 |
2 | 60 | 0.0333 | -9 | c.164 others(28): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1652492 | TCTCCCCA others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(168): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0053 a0001c0001t0001g0107 a0001c0001t0001g0126 others(168): Show |
171 | 320 | 0.5344 | -9 | c.210 others(28): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 16/22 | chr2 | TogoVar |