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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRELP_chr1_203470806_203496352 | 203496108 | CCCAGGGA others(19): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0117 | 1 | 430 | 0.0023 | -26 | c.*92 others(37): Show |
PRELP | ENSG00000188783.6 | transcript | ENST00000343110.3 | protein_coding | 4757 | chr1 | TogoVar | |||||||
PREP_chr6_105268218_105408082 | 105374632 | TTATATAT others(19): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01884.hp2 HG02055.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0001c0008others(4): Show | a0001c0001t0002a0001c0006t0001a0001c0008t0008others(5): Show | a0001c0001t0002g0175 a0001c0006t0001g0131 a0001c0006t0001g0132 others(6): Show |
9 | 212 | 0.0425 | -26 | c.386 others(43): Show |
PREP | ENSG00000085377.15 | transcript | ENST00000652536.2 | protein_coding | 4/14 | chr6 | TogoVar | |||||||
PREX1_chr20_48619252_48832999 | 48641838 | GAGAGGAA others(19): Show |
G | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0010 | a0001c0010t0006 | a0001c0010t0006g0261 | 1 | 268 | 0.0037 | -26 | c.377 others(43): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 29/39 | chr20 | TogoVar | |||||||
PREX1_chr20_48619252_48832999 | 48746941 | AACACACA others(19): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG01167.hp1 HG01169.hp2 others(29): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0002c0002others(8): Show | a0001c0001t0002a0001c0005t0004a0002c0002t0003others(11): Show | a0001c0001t0002g0183 a0001c0005t0004g0135 a0002c0002t0003g0143 others(29): Show |
32 | 268 | 0.1194 | -26 | c.291 others(41): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 2/39 | chr20 | TogoVar | |||||||
PREX2_chr8_67947046_68242032 | 68047488 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02451.hp2 HG02717.hp1 others(1): Show |
a0001a0003 | a0001c0021a0003c0020 | a0001c0021t0006a0003c0020t0002a0003c0020t0017 | a0001c0021t0006g0080 a0003c0020t0002g0128 a0003c0020t0017g0175 others(1): Show |
4 | 190 | 0.0211 | -26 | c.943 others(43): Show |
PREX2 | ENSG00000046889.19 | transcript | ENST00000288368.5 | protein_coding | 8/39 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PRG3_chr11_57371769_57386150 | 57374426 | CAAAAAAA others(19): Show |
C | downstream_gene_variant | MODIFIER | HG01256.hp1 NA18939.hp1 NA18987.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
3 | 396 | 0.0076 | -26 | c.*23 others(37): Show |
PRG3 | ENSG00000156575.2 | transcript | ENST00000287143.2 | protein_coding | 2342 | chr11 | TogoVar | |||||||
PRICKLE1_chr12_42451757_42594746 | 42527916 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0260 | 1 | 300 | 0.0033 | -26 | c.-48 others(45): Show |
PRICKLE1 | ENSG00000139174.12 | transcript | ENST00000345127.9 | protein_coding | 1/7 | chr12 | TogoVar | |||||||
PRICKLE1_chr12_42451757_42594746 | 42527947 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG02683.hp1 HG02897.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0064 a0001c0001t0001g0170 a0001c0001t0002g0078 others(8): Show |
11 | 300 | 0.0367 | -26 | c.-48 others(45): Show |
PRICKLE1 | ENSG00000139174.12 | transcript | ENST00000345127.9 | protein_coding | 1/7 | chr12 | TogoVar | |||||||
PRICKLE1_chr12_42451757_42594746 | 42560766 | TCTCACAC others(19): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp2 HG01884.hp1 others(36): Show |
a0001a0006a0008 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0014others(15): Show | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0154 others(36): Show |
39 | 300 | 0.1300 | -26 | c.-49 others(45): Show |
PRICKLE1 | ENSG00000139174.12 | transcript | ENST00000345127.9 | protein_coding | 1/7 | chr12 | TogoVar | |||||||
PRICKLE1_chr12_42451757_42594746 | 42560768 | TCACACAC others(19): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00558.hp2 others(73): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(21): Show | a0001c0001t0001g0010 a0001c0001t0001g0040 a0001c0001t0001g0041 others(73): Show |
76 | 300 | 0.2533 | -26 | c.-49 others(45): Show |
PRICKLE1 | ENSG00000139174.12 | transcript | ENST00000345127.9 | protein_coding | 1/7 | chr12 | TogoVar | |||||||
PRKACA_chr19_14086688_14122762 | 14109959 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | HG01934.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0304 a0001c0001t0002g0310 |
2 | 358 | 0.0056 | -26 | c.47- others(41): Show |
PRKACA | ENSG00000072062.16 | transcript | ENST00000308677.9 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
PRKACB_chr1_84139271_84243498 | 84199051 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG03139.hp2 HG03540.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0099 a0001c0001t0001g0100 others(1): Show |
5 | 320 | 0.0156 | -26 | c.783 others(43): Show |
PRKACB | ENSG00000142875.21 | transcript | ENST00000370685.7 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151669784 | GCACACAC others(19): Show |
G | intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 252 | 0.0040 | -26 | c.684 others(43): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 4/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151703845 | AACACACA others(19): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG01069.hp1 HG01070.hp2 others(17): Show |
a0001a0003a0007 | a0001c0001a0003c0005a0007c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0055 a0001c0001t0001g0072 a0001c0001t0001g0200 others(17): Show |
20 | 252 | 0.0794 | -26 | c.467 others(45): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 3/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151773032 | AGAGAGAG others(19): Show |
A | intron_variant | MODIFIER | HG02071.hp1 HG02132.hp1 NA18950.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0002g0181 others(3): Show |
6 | 252 | 0.0238 | -26 | c.466 others(43): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 3/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151773036 | AGAGAGAG others(19): Show |
A | intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 252 | 0.0040 | -26 | c.466 others(43): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 3/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151773040 | AGAGAGAG others(19): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0002 | 1 | 252 | 0.0040 | -26 | c.466 others(43): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 3/15 | chr7 | TogoVar | |||||||
PRKCA_chr17_66297613_66815743 | 66393722 | TGTCTAGC others(19): Show |
T | intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0067 | 1 | 178 | 0.0056 | -26 | c.205 others(45): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 2/16 | chr17 | TogoVar | |||||||
PRKCB_chr16_23830983_24225611 | 23865499 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0019a0001c0001t0079a0001c0002t0012others(2): Show | a0001c0001t0019g0146 a0001c0001t0079g0142 a0001c0002t0012g0145 others(2): Show |
5 | 148 | 0.0338 | -26 | c.205 others(45): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23865545 | GTGTGTGT others(19): Show |
G | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0107 | 1 | 148 | 0.0068 | -26 | c.205 others(45): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23866977 | CCCTTCCT others(19): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0079 | 1 | 148 | 0.0068 | -26 | c.205 others(45): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCE_chr2_45646675_46192990 | 46098520 | TCCTGCTA others(19): Show |
T | intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0124 | 1 | 168 | 0.0060 | -26 | c.159 others(47): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PRKCE_chr2_45646675_46192990 | 46114706 | ACCGTGCC others(19): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00558.hp1 others(40): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0017 others(40): Show |
43 | 168 | 0.2560 | -26 | c.159 others(47): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 11/14 | chr2 | TogoVar | |||||||
PRKCG_chr19_53877197_53912652 | 53878634 | AAAAAAAA others(19): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0121 | 1 | 362 | 0.0028 | -26 | c.-38 others(37): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 3562 | chr19 | TogoVar | |||||||
PRKCG_chr19_53877197_53912652 | 53878636 | AAAAAAAA others(19): Show |
A | upstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0064 | 1 | 362 | 0.0028 | -26 | c.-38 others(37): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 3560 | chr19 | TogoVar | |||||||
PRKCH_chr14_61316579_61555976 | 61532624 | AAGATTCC others(19): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00609.hp2 others(48): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0019 others(48): Show |
51 | 208 | 0.2452 | -26 | c.176 others(45): Show |
PRKCH | ENSG00000027075.17 | transcript | ENST00000332981.11 | protein_coding | 12/13 | chr14 | TogoVar | |||||||
PRKCI_chr3_170217424_170310977 | 170288989 | GTGGCAGC others(19): Show |
G | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 342 | 0.0029 | -26 | c.120 others(45): Show |
PRKCI | ENSG00000163558.13 | transcript | ENST00000295797.5 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2175541 | ACCCAACC others(19): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0188 | 1 | 286 | 0.0035 | -26 | c.157 others(43): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKD1_chr14_29571479_29932847 | 29826161 | CACATATA others(19): Show |
C | intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0099 | 1 | 156 | 0.0064 | -26 | c.265 others(47): Show |
PRKD1 | ENSG00000184304.17 | transcript | ENST00000331968.11 | protein_coding | 1/17 | chr14 | TogoVar | |||||||
PRKDC_chr8_47768111_47965136 | 47827118 | TCACACAC others(19): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02723.hp2 HG03486.hp2 |
a0008 | a0008c0006 | a0008c0006t0001 | a0008c0006t0001g0061 a0008c0006t0001g0062 a0008c0006t0001g0063 |
3 | 198 | 0.0152 | -26 | c.857 others(43): Show |
PRKDC | ENSG00000253729.9 | transcript | ENST00000314191.7 | protein_coding | 62/85 | chr8 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161821719 | CTTTTTTT others(19): Show |
C | intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0007 | a0002c0007t0013 | a0002c0007t0013g0018 | 1 | 32 | 0.0313 | -26 | c.735 others(45): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 6/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 162021119 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG01361.hp1 HG01884.hp2 others(11): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0030 a0001c0001t0002g0005 a0001c0001t0002g0007 others(11): Show |
14 | 32 | 0.4375 | -26 | c.618 others(45): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 5/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 162213804 | TACACACA others(19): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02922.hp1 HG03209.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001a0001c0003t0003 | a0001c0001t0002g0011 a0001c0003t0001g0032 a0001c0003t0003g0027 |
3 | 32 | 0.0938 | -26 | c.413 others(45): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 3/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 162584220 | AAAAACAA others(19): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG01361.hp1 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0004g0029 |
3 | 32 | 0.0938 | -26 | c.8-1 others(43): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 162668504 | TGACAGGG others(19): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02647.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0004t0001 | a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0003g0022 others(1): Show |
4 | 32 | 0.1250 | -26 | c.7+5 others(41): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
PRMT3_chr11_20382716_20514338 | 20482812 | ATGGAAAG others(19): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(316): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(309): Show |
319 | 380 | 0.8395 | -26 | c.134 others(47): Show |
PRMT3 | ENSG00000185238.13 | transcript | ENST00000331079.11 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PROK1_chr1_110446149_110462358 | 110458039 | CTTTTTTT others(19): Show |
C | downstream_gene_variant | MODIFIER | HG02109.hp2 NA19089.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0010 | a0002c0002t0001g0001 a0002c0002t0010g0001 |
2 | 456 | 0.0044 | -26 | c.*16 others(37): Show |
PROK1 | ENSG00000143125.6 | transcript | ENST00000271331.4 | protein_coding | 682 | chr1 | TogoVar | |||||||
PROKR2_chr20_5294218_5321954 | 5298397 | TGTGTGTG others(19): Show |
T | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02293.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0015 | a0001c0002t0006a0001c0003t0031a0001c0015t0006 | a0001c0002t0006g0019 a0001c0003t0031g0064 a0001c0015t0006g0048 |
4 | 424 | 0.0094 | -26 | c.*36 others(37): Show |
PROKR2 | ENSG00000101292.8 | transcript | ENST00000678254.1 | protein_coding | 820 | chr20 | TogoVar | |||||||
PROS1_chr3_93868051_93978896 | 93956537 | CACACACA others(19): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01192.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0035 |
2 | 314 | 0.0064 | -26 | c.76+ others(43): Show |
PROS1 | ENSG00000184500.16 | transcript | ENST00000394236.9 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
PROSER2_chr10_11818356_11877277 | 11840941 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 348 | 0.0029 | -26 | c.-81 others(45): Show |
PROSER2 | ENSG00000148426.14 | transcript | ENST00000277570.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PROSER2_chr10_11818356_11877277 | 11840943 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 348 | 0.0029 | -26 | c.-81 others(45): Show |
PROSER2 | ENSG00000148426.14 | transcript | ENST00000277570.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PROSER2_chr10_11818356_11877277 | 11840945 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 348 | 0.0029 | -26 | c.-81 others(45): Show |
PROSER2 | ENSG00000148426.14 | transcript | ENST00000277570.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PROX1_chr1_213982973_214046510 | 213994750 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00642.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(15): Show | a0001c0001t0001g0007 a0001c0001t0001g0121 a0001c0001t0001g0122 others(26): Show |
32 | 274 | 0.1168 | -26 | c.-67 others(43): Show |
PROX1 | ENSG00000117707.17 | transcript | ENST00000366958.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRPF4_chr9_113270658_113297905 | 113285343 | ATTTTTTT others(19): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00597.hp2 others(63): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0002a0001c0002t0015others(1): Show | a0001c0001t0001g0131 a0001c0002t0002g0001 a0001c0002t0002g0003 others(21): Show |
66 | 426 | 0.1549 | -26 | c.750 others(41): Show |
PRPF4 | ENSG00000136875.13 | transcript | ENST00000374198.5 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRPH2_chr6_42691598_42727597 | 42705581 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00438.hp1 others(76): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0017others(5): Show | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0005 others(62): Show |
79 | 392 | 0.2015 | -26 | c.582 others(41): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
PRPH2_chr6_42691598_42727597 | 42705583 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp2 HG01070.hp2 others(64): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0029 a0001c0001t0001g0046 a0001c0001t0001g0049 others(57): Show |
67 | 392 | 0.1709 | -26 | c.582 others(41): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
PRPH2_chr6_42691598_42727597 | 42705585 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG02723.hp2 HG02809.hp1 others(7): Show |
a0001a0002a0004 | a0001c0001a0002c0004a0004c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0021others(2): Show | a0001c0001t0001g0062 a0001c0001t0004g0036 a0001c0001t0004g0054 others(7): Show |
10 | 392 | 0.0255 | -26 | c.582 others(42): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
PRPH2_chr6_42691598_42727597 | 42705587 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0055 | 1 | 392 | 0.0026 | -26 | c.582 others(42): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
PRR12_chr19_49586182_49631439 | 49625895 | ACCCCCCC others(19): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0055 | a0001c0055t0012 | a0001c0055t0012g0153 | 1 | 322 | 0.0031 | -26 | c.*29 others(35): Show |
PRR12 | ENSG00000126464.15 | transcript | ENST00000418929.7 | protein_coding | 14/14 | 294 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PRR23C_chr3_139037102_139049892 | 139047999 | GATATATA others(19): Show |
G | upstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 426 | 0.0024 | -26 | c.-34 others(37): Show |
PRR23C | ENSG00000233701.3 | transcript | ENST00000413199.1 | protein_coding | 3108 | chr3 | TogoVar |