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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PTGES3_chr12_56658349_56693284 | 56689872 | AAAAAAAA others(18): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(252): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0015 others(250): Show |
255 | 370 | 0.6892 | -25 | c.-18 others(36): Show |
PTGES3 | ENSG00000110958.16 | transcript | ENST00000262033.11 | protein_coding | 1589 | chr12 | TogoVar | |||||||
PTK2B_chr8_27320552_27464386 | 27350991 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02056.hp1 NA18943.hp2 NA18949.hp2 others(7): Show |
a0001a0002a0008 | a0001c0002a0001c0009a0002c0003others(2): Show | a0001c0002t0001a0001c0009t0002a0002c0003t0002others(2): Show | a0001c0002t0001g0311 a0001c0009t0002g0312 a0002c0003t0002g0012 others(5): Show |
10 | 237 | 0.0422 | -25 | c.-38 others(44): Show |
PTK2B | ENSG00000120899.18 | transcript | ENST00000346049.10 | protein_coding | 1/30 | chr8 | TogoVar | |||||||
PTK2_chr8_140652900_141006282 | 140670481 | AAACAACA others(18): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG00738.hp1 others(64): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0016others(4): Show | a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0014 others(64): Show |
67 | 234 | 0.2863 | -25 | c.283 others(42): Show |
PTK2 | ENSG00000169398.20 | transcript | ENST00000696786.1 | protein_coding | 32/35 | chr8 | TogoVar | |||||||
PTK2_chr8_140652900_141006282 | 140670483 | ACAACAAC others(18): Show |
A | intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0273 | 1 | 280 | 0.0036 | -25 | c.283 others(42): Show |
PTK2 | ENSG00000169398.20 | transcript | ENST00000696786.1 | protein_coding | 32/35 | chr8 | TogoVar | |||||||
PTK2_chr8_140652900_141006282 | 140670485 | AACAACAC others(18): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01169.hp1 HG02083.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0011a0001c0003t0002 | a0001c0001t0002g0013 a0001c0001t0002g0040 a0001c0001t0002g0041 others(7): Show |
10 | 285 | 0.0351 | -25 | c.283 others(42): Show |
PTK2 | ENSG00000169398.20 | transcript | ENST00000696786.1 | protein_coding | 32/35 | chr8 | TogoVar | |||||||
PTK7_chr6_43071314_43166715 | 43152734 | TTTATGTT others(18): Show |
T | intron_variant | MODIFIER | NA18969.hp2 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0037 a0001c0001t0002g0036 |
2 | 58 | 0.0345 | -25 | c.272 others(44): Show |
PTK7 | ENSG00000112655.16 | transcript | ENST00000230419.9 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PTP4A2_chr1_31901421_31943368 | 31908135 | TTATATTA others(18): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 a0001c0001t0001g0206 a0001c0001t0001g0216 others(5): Show |
8 | 263 | 0.0304 | -25 | c.*69 others(34): Show |
PTP4A2 | ENSG00000184007.22 | transcript | ENST00000647444.2 | protein_coding | 6/6 | 692 | chr1 | TogoVar | ||||||
PTPN12_chr7_77532295_77645069 | 77641210 | ATTTTTTT others(18): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG01070.hp2 others(23): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0002c0002t0005a0003c0003t0001 | a0002c0002t0001g0002 a0002c0002t0001g0015 a0002c0002t0001g0018 others(23): Show |
26 | 72 | 0.3611 | -25 | c.*19 others(36): Show |
PTPN12 | ENSG00000127947.16 | transcript | ENST00000248594.11 | protein_coding | 1142 | chr7 | TogoVar | |||||||
PTPN13_chr4_86589315_86820161 | 86799378 | CTCACTAC others(18): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG01123.hp2 others(13): Show |
a0003a0004a0005others(2): Show | a0003c0002a0004c0005a0004c0028others(3): Show | a0003c0002t0005a0004c0005t0004a0004c0005t0005others(5): Show | a0003c0002t0005g0169 a0004c0005t0004g0001 a0004c0005t0004g0002 others(13): Show |
16 | 196 | 0.0816 | -25 | c.650 others(42): Show |
PTPN13 | ENSG00000163629.13 | transcript | ENST00000411767.7 | protein_coding | 42/47 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PTPN2_chr18_12787152_12889237 | 12811098 | CTAATATT others(18): Show |
C | intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 | 1 | 368 | 0.0027 | -25 | c.858 others(42): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 7/8 | chr18 | TogoVar | |||||||
PTPRB_chr12_70510870_70642429 | 70564836 | AAATAATA others(18): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0009 | a0009c0030 | a0009c0030t0029 | a0009c0030t0029g0118 | 1 | 258 | 0.0039 | -25 | c.390 others(44): Show |
PTPRB | ENSG00000127329.16 | transcript | ENST00000334414.11 | protein_coding | 15/33 | chr12 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 8726589 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0032 | 1 | 23 | 0.0435 | -25 | c.64+ others(40): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 12/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 9043904 | AAAAATAA others(18): Show |
A | intron_variant | MODIFIER | NA19030.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0024 | a0001c0001t0001g0004 a0001c0001t0024g0032 |
2 | 5 | 0.4000 | -25 | c.-14 others(46): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 10/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 9975098 | GCACTGTC others(18): Show |
G | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0027 | 1 | 34 | 0.0294 | -25 | c.-47 others(46): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 4/45 | chr9 | TogoVar | |||||||
PTPRE_chr10_127902103_128090855 | 128010545 | CCTTTTCT others(18): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0022 | a0001c0001t0002g0168 a0001c0001t0005g0034 a0001c0001t0022g0235 |
3 | 54 | 0.0556 | -25 | c.-8+ others(42): Show |
PTPRE | ENSG00000132334.17 | transcript | ENST00000254667.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PTPRE_chr10_127902103_128090855 | 128017775 | TTCACTCT others(18): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0047 | 1 | 302 | 0.0033 | -25 | c.-7- others(42): Show |
PTPRE | ENSG00000132334.17 | transcript | ENST00000254667.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PTPRE_chr10_127902103_128090855 | 128081571 | CAGTCAAT others(18): Show |
C | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0079 | 1 | 302 | 0.0033 | -25 | c.202 others(44): Show |
PTPRE | ENSG00000132334.17 | transcript | ENST00000254667.8 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PTPRG_chr3_61556571_62302609 | 61672694 | CAGAGGGA others(18): Show |
C | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 94 | 0.0106 | -25 | c.86- others(42): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRG_chr3_61556571_62302609 | 61871153 | GTGTTGTG others(18): Show |
G | intron_variant | MODIFIER | HG01169.hp2 HG02965.hp2 NA18522.hp2 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0002 | a0001c0001t0001g0009 a0004c0006t0002g0081 a0004c0006t0002g0089 |
3 | 90 | 0.0333 | -25 | c.191 others(46): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRG_chr3_61556571_62302609 | 61871158 | GTGTTGTG others(18): Show |
G | intron_variant | MODIFIER | HG02040.hp2 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0073 a0001c0001t0003g0012 |
2 | 81 | 0.0247 | -25 | c.191 others(46): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRG_chr3_61556571_62302609 | 61871163 | GTGTTATG others(18): Show |
G | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 42 | 0.0238 | -25 | c.191 others(46): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRJ_chr11_47975559_48175839 | 48053240 | ATATTTAT others(18): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0004 | a0001c0004t0012 | a0001c0004t0012g0044 | 1 | 214 | 0.0047 | -25 | c.97- others(42): Show |
PTPRJ | ENSG00000149177.15 | transcript | ENST00000418331.7 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PTPRR_chr12_70633079_70925738 | 70666935 | GTTTTTTT others(18): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp2 HG01261.hp1 others(26): Show |
a0001a0002a0008others(1): Show | a0001c0001a0002c0002a0008c0009others(1): Show | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(2): Show | a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0035 others(26): Show |
29 | 51 | 0.5686 | -25 | c.149 others(44): Show |
PTPRR | ENSG00000153233.13 | transcript | ENST00000283228.7 | protein_coding | 10/13 | chr12 | TogoVar | |||||||
PTPRS_chr19_5200508_5345812 | 5272595 | CAAAAAAA others(18): Show |
C | intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0049 | 1 | 14 | 0.0714 | -25 | c.379 others(40): Show |
PTPRS | ENSG00000105426.19 | transcript | ENST00000262963.11 | protein_coding | 4/37 | chr19 | TogoVar | |||||||
PTPRS_chr19_5200508_5345812 | 5343287 | TAGCTGTC others(18): Show |
T | upstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0009 | a0001c0009t0028 | a0001c0009t0028g0105 | 1 | 274 | 0.0036 | -25 | c.-27 others(36): Show |
PTPRS | ENSG00000105426.19 | transcript | ENST00000262963.11 | protein_coding | 2476 | chr19 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 30972267 | AGAAGGGA others(18): Show |
A | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 276 | 0.0036 | -25 | c.150 others(44): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 10/21 | chr1 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 30972269 | AAGGGAAG others(18): Show |
A | intron_variant | MODIFIER | HG03579.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0074 |
2 | 248 | 0.0081 | -25 | c.150 others(44): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 10/21 | chr1 | TogoVar | |||||||
PUS1_chr12_131924276_131950896 | 131927041 | CAGAGGGA others(18): Show |
C | upstream_gene_variant | MODIFIER | HG02970.hp2 NA18522.hp2 |
a0001 | a0001c0011a0001c0012 | a0001c0011t0006a0001c0012t0006 | a0001c0011t0006g0141 a0001c0012t0006g0140 |
2 | 380 | 0.0053 | -25 | c.-26 others(36): Show |
PUS1 | ENSG00000177192.14 | transcript | ENST00000376649.8 | protein_coding | 2234 | chr12 | TogoVar | |||||||
PUS3_chr11_125888485_125908206 | 125889702 | AACTCCAG others(18): Show |
A | downstream_gene_variant | MODIFIER | HG01346.hp1 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0010 |
2 | 448 | 0.0045 | -25 | c.*40 others(36): Show |
PUS3 | ENSG00000110060.9 | transcript | ENST00000227474.8 | protein_coding | 3782 | chr11 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51486770 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02896.hp2 |
a0009 | a0009c0008 | a0009c0008t0001a0009c0008t0003 | a0009c0008t0001g0059 a0009c0008t0001g0064 a0009c0008t0003g0007 |
3 | 120 | 0.0250 | -25 | c.453 others(42): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 5/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51534668 | GGGCGCCT others(18): Show |
G | intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 120 | 0.0083 | -25 | c.380 others(44): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 4/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51577914 | AAAAGAAA others(18): Show |
A | intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 113 | 0.0088 | -25 | c.308 others(44): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 3/22 | chr8 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1740771 | CAACACCC others(18): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01884.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0004a0001c0003t0018a0001c0004t0004 | a0001c0001t0004g0302 a0001c0003t0018g0303 a0001c0004t0004g0164 |
3 | 320 | 0.0094 | -25 | c.200 others(42): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXK_chr3_58327892_58431127 | 58336051 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0029 |
3 | 297 | 0.0101 | -25 | c.102 others(42): Show |
PXK | ENSG00000168297.16 | transcript | ENST00000356151.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PXK_chr3_58327892_58431127 | 58336055 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0030 | 1 | 295 | 0.0034 | -25 | c.102 others(42): Show |
PXK | ENSG00000168297.16 | transcript | ENST00000356151.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PXK_chr3_58327892_58431127 | 58378503 | TTTTTTTT others(18): Show |
T | intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0245 | 1 | 298 | 0.0034 | -25 | c.202 others(42): Show |
PXK | ENSG00000168297.16 | transcript | ENST00000356151.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PXK_chr3_58327892_58431127 | 58378505 | TTTTTTTT others(18): Show |
T | intron_variant | MODIFIER | HG01358.hp2 HG02257.hp1 HG02647.hp1 others(6): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0002 | a0002c0002t0002g0243 a0002c0002t0002g0248 a0002c0002t0002g0249 others(6): Show |
9 | 298 | 0.0302 | -25 | c.202 others(42): Show |
PXK | ENSG00000168297.16 | transcript | ENST00000356151.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PXK_chr3_58327892_58431127 | 58378507 | TTTTTTTG others(18): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG01071.hp1 others(38): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0002c0002t0010a0003c0003t0002 | a0002c0002t0002g0007 a0002c0002t0002g0163 a0002c0002t0002g0186 others(37): Show |
41 | 297 | 0.1380 | -25 | c.202 others(42): Show |
PXK | ENSG00000168297.16 | transcript | ENST00000356151.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PXMP2_chr12_132682587_132709985 | 132692105 | TGCCAGTT others(18): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02886.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 3 | 348 | 0.0086 | -25 | c.236 others(42): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PXMP2_chr12_132682587_132709985 | 132692879 | CCAGTTAG others(18): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG01346.hp2 others(14): Show |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0002a0002c0006t0002 | a0001c0002t0002g0006 a0001c0002t0002g0013 a0001c0002t0002g0071 others(7): Show |
17 | 348 | 0.0489 | -25 | c.236 others(42): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PXMP2_chr12_132682587_132709985 | 132694640 | TGCCAGTT others(18): Show |
T | intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 348 | 0.0029 | -25 | c.237 others(42): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PXMP2_chr12_132682587_132709985 | 132694938 | TAGCCAGT others(18): Show |
T | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0067 | 1 | 348 | 0.0029 | -25 | c.237 others(40): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
PYROXD1_chr12_21432655_21476250 | 21460890 | CAATGTGG others(18): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02647.hp2 HG02723.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0019a0001c0001t0034a0001c0002t0011others(1): Show | a0001c0001t0019g0149 a0001c0001t0019g0156 a0001c0001t0034g0155 others(2): Show |
8 | 414 | 0.0193 | -25 | c.751 others(40): Show |
PYROXD1 | ENSG00000121350.16 | transcript | ENST00000240651.14 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
QSOX2_chr9_136201333_136250812 | 136245941 | CCCCCGCC others(18): Show |
C | upstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0090 | 1 | 390 | 0.0026 | -25 | c.-16 others(34): Show |
QSOX2 | ENSG00000165661.18 | transcript | ENST00000358701.10 | protein_coding | 130 | chr9 | TogoVar | |||||||
RAB11FIP4_chr17_31386675_31543211 | 31445556 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02602.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0140 | 1 | 301 | 0.0033 | -25 | c.336 others(44): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RAB11FIP4_chr17_31386675_31543211 | 31445558 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | NA18950.hp1 NA18970.hp2 NA19003.hp1 |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0010a0001c0004t0006a0001c0005t0009 | a0001c0001t0010g0195 a0001c0004t0006g0066 a0001c0005t0009g0295 |
3 | 304 | 0.0099 | -25 | c.336 others(44): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RAB11FIP4_chr17_31386675_31543211 | 31445560 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00558.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0018 a0001c0001t0001g0070 a0001c0001t0001g0077 others(32): Show |
35 | 297 | 0.1178 | -25 | c.336 others(44): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RAB11FIP4_chr17_31386675_31543211 | 31445562 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG03041.hp1 NA19010.hp2 NA19043.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0028a0001c0002t0004 | a0001c0001t0003g0015 a0001c0001t0003g0298 a0001c0001t0028g0128 others(1): Show |
4 | 298 | 0.0134 | -25 | c.336 others(44): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RAB19_chr7_140399058_140432974 | 140430985 | AGTCTCCC others(18): Show |
A | downstream_gene_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0186 | 1 | 440 | 0.0023 | -25 | c.*48 others(36): Show |
RAB19 | ENSG00000146955.11 | transcript | ENST00000537763.6 | protein_coding | 3012 | chr7 | TogoVar | |||||||
RAB2A_chr8_60511987_60628644 | 60565676 | ATTTTTTT others(18): Show |
A | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 82 | 0.0122 | -25 | c.119 others(42): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |