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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PARD3B_chr2_204540475_205625162 | 205507196 | A | ATTTTTTT | intron_variant | MODIFIER | HG00609.hp1 HG02145.hp1 HG02886.hp1 others(1): Show |
a0001a0002a0008others(1): Show | a0001c0001a0002c0002a0008c0014others(1): Show | a0001c0001t0002a0002c0002t0004a0008c0014t0011others(1): Show | a0001c0001t0002g0033 a0002c0002t0004g0029 a0008c0014t0011g0026 others(1): Show |
4 | 11 | 0.3636 | 7 | c.318 others(26): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205567481 | A | ATTTTTTT | intron_variant | MODIFIER | HG01884.hp2 HG02965.hp1 HG02965.hp2 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0004others(6): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0002others(6): Show | a0001c0001t0001g0042 a0002c0002t0001g0008 a0002c0004t0002g0035 others(6): Show |
9 | 16 | 0.5625 | 7 | c.326 others(28): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34233017 | A | ATTTTTTT | intron_variant | MODIFIER | HG00738.hp2 HG01099.hp2 HG01106.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0067 a0001c0001t0002g0027 a0001c0001t0003g0055 others(7): Show |
10 | 48 | 0.2083 | 7 | c.341 others(28): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 22/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34389239 | T | TAAAAAAA | intron_variant | MODIFIER | HG00738.hp2 HG01071.hp1 HG01106.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(4): Show | a0001c0001t0001g0048 a0001c0001t0001g0059 a0001c0001t0001g0066 others(7): Show |
10 | 32 | 0.3125 | 7 | c.891 others(24): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 7/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34581234 | C | CTTTTTTT | intron_variant | MODIFIER | HG00544.hp2 HG00735.hp2 HG00738.hp1 others(24): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(15): Show | a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0074 others(24): Show |
27 | 55 | 0.4909 | 7 | c.223 others(26): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34666777 | T | TCAAAAAA | intron_variant | MODIFIER | HG00544.hp2 HG00735.hp2 HG02572.hp1 others(5): Show |
a0001 | a0001c0001a0001c0019 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0085 others(5): Show |
8 | 52 | 0.1538 | 7 | c.222 others(26): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34741174 | A | ATTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG01071.hp2 HG01099.hp1 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0001t0015a0001c0002t0002others(11): Show | a0001c0001t0002g0023 a0001c0001t0015g0008 a0001c0002t0002g0005 others(13): Show |
16 | 65 | 0.2462 | 7 | c.121 others(26): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 1/24 | chr10 | TogoVar | |||||||
PARG_chr10_49813279_49947027 | 49906144 | C | CTTTTTTT | intron_variant | MODIFIER | HG00544.hp1 HG01123.hp2 HG02135.hp1 others(14): Show |
a0001a0009 | a0001c0001a0001c0004a0001c0009others(1): Show | a0001c0001t0003a0001c0001t0007a0001c0004t0001others(2): Show | a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0011 others(14): Show |
17 | 277 | 0.0614 | 7 | c.173 others(26): Show |
PARG | ENSG00000227345.9 | transcript | ENST00000616448.2 | protein_coding | 7/17 | chr10 | TogoVar | |||||||
PARN_chr16_14430701_14635260 | 14585512 | C | CTATGATG | intron_variant | MODIFIER | HG02809.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0019 a0001c0001t0008g0020 |
2 | 168 | 0.0119 | 7 | c.963 others(22): Show |
PARN | ENSG00000140694.18 | transcript | ENST00000437198.7 | protein_coding | 14/23 | chr16 | TogoVar | |||||||
PARP11_chr12_3803861_3878399 | 3839161 | C | CGCCGCCT | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00558.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0002g0009 a0001c0001t0002g0031 a0001c0001t0002g0051 others(19): Show |
29 | 414 | 0.0700 | 7 | c.19- others(22): Show |
PARP11 | ENSG00000111224.14 | transcript | ENST00000228820.9 | protein_coding | 1/7 | chr12 | TogoVar | |||||||
PARP15_chr3_122572650_122644047 | 122584573 | C | CTTTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG01243.hp2 HG01255.hp2 others(12): Show |
a0001a0002a0007others(7): Show | a0001c0001a0002c0002a0007c0007others(8): Show | a0001c0001t0001a0002c0002t0003a0007c0007t0026others(12): Show | a0001c0001t0001g0280 a0002c0002t0003g0186 a0007c0007t0026g0028 others(12): Show |
15 | 223 | 0.0673 | 7 | c.186 others(24): Show |
PARP15 | ENSG00000173200.13 | transcript | ENST00000464300.7 | protein_coding | 1/11 | chr3 | TogoVar | |||||||
PARP16_chr15_65253099_65291883 | 65289386 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00738.hp1 HG01069.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0083 a0001c0001t0001g0109 a0001c0001t0001g0110 others(11): Show |
16 | 85 | 0.1882 | 7 | c.-29 others(18): Show |
PARP16 | ENSG00000138617.16 | transcript | ENST00000649807.2 | protein_coding | 2504 | chr15 | TogoVar | |||||||
PARP4_chr13_24415931_24517778 | 24466796 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00735.hp2 others(8): Show |
a0006a0009 | a0006c0006a0009c0010 | a0006c0006t0001a0009c0010t0003 | a0006c0006t0001g0344 a0006c0006t0001g0345 a0006c0006t0001g0346 others(8): Show |
11 | 172 | 0.0640 | 7 | c.213 others(26): Show |
PARP4 | ENSG00000102699.6 | transcript | ENST00000381989.4 | protein_coding | 17/33 | chr13 | TogoVar | |||||||
PARP4_chr13_24415931_24517778 | 24510553 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG02135.hp2 others(3): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 others(3): Show |
6 | 149 | 0.0403 | 7 | c.-2+ others(22): Show |
PARP4 | ENSG00000102699.6 | transcript | ENST00000381989.4 | protein_coding | 1/33 | chr13 | TogoVar | |||||||
PARP9_chr3_122522924_122569300 | 122556141 | T | TAAAAAAA | intron_variant | MODIFIER | HG00609.hp2 HG01168.hp2 HG01261.hp2 others(19): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 a0001c0002t0001g0020 a0001c0002t0001g0022 others(14): Show |
22 | 141 | 0.1560 | 7 | c.50- others(18): Show |
PARP9 | ENSG00000138496.17 | transcript | ENST00000682323.1 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
PARP9_chr3_122522924_122569300 | 122562158 | C | CTTTTCTT | intron_variant | MODIFIER | HG00544.hp1 HG00733.hp1 HG01070.hp1 others(62): Show |
a0001a0002a0007others(1): Show | a0001c0003a0002c0001a0007c0014others(1): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(5): Show | a0001c0003t0001g0031 a0001c0003t0002g0001 a0001c0003t0002g0002 others(42): Show |
65 | 433 | 0.1501 | 7 | c.-90 others(24): Show |
PARP9 | ENSG00000138496.17 | transcript | ENST00000682323.1 | protein_coding | 1/10 | chr3 | TogoVar | |||||||
PARVA_chr11_12372571_12540356 | 12443169 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp2 others(42): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0059 others(42): Show |
45 | 114 | 0.3947 | 7 | c.137 others(26): Show |
PARVA | ENSG00000197702.14 | transcript | ENST00000334956.15 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PARVA_chr11_12372571_12540356 | 12517303 | A | ACCACCCC | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG01070.hp2 others(56): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0107 others(56): Show |
59 | 246 | 0.2398 | 7 | c.868 others(22): Show |
PARVA | ENSG00000197702.14 | transcript | ENST00000334956.15 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PASK_chr2_241101099_241154472 | 241132492 | G | GCACTCCA | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG01081.hp1 others(42): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0002c0005others(9): Show | a0001c0001t0001a0001c0002t0001a0002c0005t0001others(13): Show | a0001c0001t0001g0102 a0001c0002t0001g0196 a0002c0005t0001g0220 others(39): Show |
45 | 374 | 0.1203 | 7 | c.146 others(24): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 9/17 | chr2 | TogoVar | |||||||
PASK_chr2_241101099_241154472 | 241132527 | T | TAAAAAAA | intron_variant | MODIFIER | HG01081.hp1 HG01516.hp1 HG02273.hp1 others(3): Show |
a0002a0005a0014 | a0002c0006a0005c0013a0005c0021others(1): Show | a0002c0006t0002a0005c0013t0002a0005c0021t0002others(1): Show | a0002c0006t0002g0288 a0005c0013t0002g0256 a0005c0013t0002g0280 others(3): Show |
6 | 120 | 0.0500 | 7 | c.146 others(24): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 9/17 | chr2 | TogoVar | |||||||
PATJ_chr1_61737480_62168915 | 61830467 | A | ACATTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(96): Show |
a0001a0002a0003others(37): Show | a0001c0008a0001c0021a0001c0022others(86): Show | a0001c0008t0002a0001c0021t0002a0001c0022t0020others(87): Show | a0001c0008t0002g0135 a0001c0021t0002g0071 a0001c0022t0020g0068 others(96): Show |
99 | 156 | 0.6346 | 7 | c.198 others(26): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 16/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 61939676 | C | CTTTTTTT | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp1 HG02451.hp2 others(4): Show |
a0001a0002a0005others(2): Show | a0001c0088a0002c0012a0005c0042others(4): Show | a0001c0088t0004a0002c0012t0004a0005c0042t0004others(4): Show | a0001c0088t0004g0017 a0002c0012t0004g0150 a0005c0042t0004g0130 others(4): Show |
7 | 40 | 0.1750 | 7 | c.367 others(28): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 27/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62036871 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG01070.hp1 HG01071.hp2 others(22): Show |
a0001a0002a0003others(12): Show | a0001c0008a0001c0046a0001c0048others(20): Show | a0001c0008t0013a0001c0046t0013a0001c0048t0005others(20): Show | a0001c0008t0013g0100 a0001c0046t0013g0063 a0001c0048t0005g0037 others(22): Show |
25 | 71 | 0.3521 | 7 | c.396 others(26): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 29/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62098358 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(62): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0008a0001c0021others(57): Show | a0001c0001t0003a0001c0001t0004a0001c0008t0013others(58): Show | a0001c0001t0003g0151 a0001c0001t0004g0015 a0001c0008t0013g0100 others(62): Show |
65 | 151 | 0.4305 | 7 | c.437 others(28): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62099347 | C | CTTTTTTT | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp2 HG03209.hp2 others(2): Show |
a0002a0005a0006others(1): Show | a0002c0012a0002c0030a0005c0042others(2): Show | a0002c0012t0004a0002c0030t0004a0005c0042t0004others(2): Show | a0002c0012t0004g0122 a0002c0030t0004g0081 a0005c0042t0004g0130 others(2): Show |
5 | 51 | 0.0980 | 7 | c.437 others(26): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62125236 | C | CAAAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01243.hp1 others(6): Show |
a0001a0005a0012others(3): Show | a0001c0092a0005c0123a0012c0005others(6): Show | a0001c0092t0003a0005c0123t0002a0012c0005t0002others(6): Show | a0001c0092t0003g0158 a0005c0123t0002g0018 a0012c0005t0002g0121 others(6): Show |
9 | 133 | 0.0677 | 7 | c.504 others(26): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62144777 | A | ATATATAT | intron_variant | MODIFIER | HG00735.hp2 HG02615.hp1 HG02809.hp1 others(1): Show |
a0012a0041a0055 | a0012c0005a0012c0025a0041c0060others(1): Show | a0012c0005t0002a0012c0025t0002a0041c0060t0002others(1): Show | a0012c0005t0002g0121 a0012c0025t0002g0140 a0041c0060t0002g0120 others(1): Show |
4 | 62 | 0.0645 | 7 | c.527 others(26): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 41/43 | chr1 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79614312 | A | ATAGTCTT | intron_variant | MODIFIER | HG02145.hp1 HG02922.hp2 HG02976.hp1 others(2): Show |
a0003a0005 | a0003c0005a0005c0007 | a0003c0005t0007a0005c0007t0033a0005c0007t0034 | a0003c0005t0007g0004 a0003c0005t0007g0163 a0003c0005t0007g0164 others(2): Show |
5 | 254 | 0.0197 | 7 | c.649 others(22): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79638897 | T | TATATATA | intron_variant | MODIFIER | HG00621.hp2 HG01952.hp1 HG01981.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0029a0001c0003t0003others(1): Show | a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0067 others(6): Show |
9 | 217 | 0.0415 | 7 | c.517 others(26): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79668765 | T | TGCTCACC | intron_variant | MODIFIER | NA18941.hp1 NA18968.hp2 NA18987.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010 | a0001c0001t0004g0127 a0001c0001t0010g0125 a0001c0001t0010g0126 others(1): Show |
4 | 254 | 0.0157 | 7 | c.516 others(26): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721238 | T | TATATATA | downstream_gene_variant | MODIFIER | HG02486.hp2 HG02723.hp1 HG02965.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0048 | a0001c0001t0009g0013 a0001c0001t0009g0085 a0001c0001t0009g0086 others(2): Show |
8 | 397 | 0.0202 | 7 | c.*66 others(18): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 2758 | chr20 | TogoVar | |||||||
PAX2_chr10_100740582_100834944 | 100740778 | G | GCTGTGCA | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(188): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(42): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0018 others(187): Show |
191 | 230 | 0.8304 | 7 | c.-54 others(18): Show |
PAX2 | ENSG00000075891.24 | transcript | ENST00000355243.8 | protein_coding | 4803 | chr10 | TogoVar | |||||||
PAX2_chr10_100740582_100834944 | 100824396 | A | ACACACAC | intron_variant | MODIFIER | HG03669.hp2 HG03831.hp1 HG04115.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0005 | a0001c0001t0001g0089 a0001c0001t0001g0151 a0001c0002t0005g0002 |
3 | 224 | 0.0134 | 7 | c.920 others(22): Show |
PAX2 | ENSG00000075891.24 | transcript | ENST00000355243.8 | protein_coding | 7/9 | chr10 | TogoVar | |||||||
PAX5_chr9_36828269_37039268 | 36981434 | C | CAAAAAAA | intron_variant | MODIFIER | HG00544.hp2 HG01071.hp1 HG01074.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(12): Show | a0001c0001t0001g0092 a0001c0001t0001g0117 a0001c0001t0001g0131 others(19): Show |
22 | 77 | 0.2857 | 7 | c.605 others(26): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 5/9 | chr9 | TogoVar | |||||||
PAX5_chr9_36828269_37039268 | 36984435 | C | CTTTTTTT | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG00738.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0100 a0001c0001t0001g0116 a0001c0001t0001g0123 others(19): Show |
22 | 65 | 0.3385 | 7 | c.605 others(26): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 5/9 | chr9 | TogoVar | |||||||
PAX7_chr1_18625846_18753866 | 18728753 | T | TACTCAGG | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01256.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0151 a0001c0001t0001g0179 a0001c0001t0001g0265 others(20): Show |
23 | 300 | 0.0767 | 7 | c.115 others(26): Show |
PAX7 | ENSG00000009709.12 | transcript | ENST00000420770.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAX7_chr1_18625846_18753866 | 18744689 | A | ATGGATGG | intron_variant | MODIFIER | HG01261.hp2 HG02300.hp2 HG02895.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0008a0001c0002t0013others(1): Show | a0001c0001t0001g0061 a0001c0001t0001g0102 a0001c0001t0008g0015 others(2): Show |
5 | 92 | 0.0543 | 7 | c.140 others(24): Show |
PAX7 | ENSG00000009709.12 | transcript | ENST00000420770.7 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
PAX9_chr14_36656860_36684362 | 36664568 | G | GGTTTTTT | intron_variant | MODIFIER | HG01069.hp2 HG01516.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0009 | a0001c0001t0002g0076 a0001c0001t0004g0075 a0001c0001t0009g0022 others(1): Show |
6 | 155 | 0.0387 | 7 | c.631 others(24): Show |
PAX9 | ENSG00000198807.13 | transcript | ENST00000361487.7 | protein_coding | 2/3 | chr14 | TogoVar | |||||||
PAXIP1_chr7_154938690_155008124 | 154945625 | G | GCTCGGCC | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp1 others(210): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(12): Show | a0001c0001t0004a0001c0002t0001a0001c0002t0002others(19): Show | a0001c0001t0004g0007 a0001c0001t0004g0058 a0001c0001t0004g0059 others(135): Show |
213 | 360 | 0.5917 | 7 | c.319 others(24): Show |
PAXIP1 | ENSG00000157212.20 | transcript | ENST00000404141.6 | protein_coding | 20/20 | chr7 | TogoVar | |||||||
PBLD_chr10_68277660_68337928 | 68319111 | G | GAAAGAAA | intron_variant | MODIFIER | HG02717.hp2 HG02818.hp1 HG03130.hp1 |
a0001a0002 | a0001c0004a0001c0006a0002c0002 | a0001c0004t0001a0001c0006t0001a0002c0002t0002 | a0001c0004t0001g0304 a0001c0006t0001g0302 a0002c0002t0002g0297 |
3 | 258 | 0.0116 | 7 | c.-59 others(26): Show |
PBLD | ENSG00000108187.16 | transcript | ENST00000358769.7 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
PBX1_chr1_164554184_164856831 | 164603929 | A | ATTTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG01123.hp1 HG01261.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0001g0081 a0001c0001t0004g0056 a0001c0001t0004g0183 others(6): Show |
9 | 54 | 0.1667 | 7 | c.265 others(26): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PBX1_chr1_164554184_164856831 | 164673465 | C | CTTTTTTT | intron_variant | MODIFIER | HG01496.hp1 HG02145.hp1 HG02886.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0065 a0001c0001t0002g0077 a0001c0001t0005g0078 others(3): Show |
6 | 117 | 0.0513 | 7 | c.265 others(28): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PBX1_chr1_164554184_164856831 | 164757808 | T | TTCCAAGG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(145): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0027 others(145): Show |
148 | 184 | 0.8043 | 7 | c.266 others(26): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PBX1_chr1_164554184_164856831 | 164776942 | G | GAGAGAGA | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG02056.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0019a0001c0001t0030others(2): Show | a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0019g0158 others(6): Show |
9 | 97 | 0.0928 | 7 | c.266 others(26): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
PBX1_chr1_164554184_164856831 | 164811873 | A | AATATAAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(148): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0027 others(148): Show |
151 | 184 | 0.8207 | 7 | c.838 others(22): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
PBX3_chr9_125742373_125972377 | 125777010 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00609.hp1 others(27): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004a0001c0002t0014 | a0001c0002t0003g0144 a0001c0002t0004g0117 a0001c0002t0004g0134 others(27): Show |
30 | 288 | 0.1042 | 7 | c.274 others(26): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PBX3_chr9_125742373_125972377 | 125781579 | G | GGAGAGGC | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG03225.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 a0001c0001t0001g0181 a0001c0001t0001g0182 others(2): Show |
5 | 289 | 0.0173 | 7 | c.274 others(26): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PBX3_chr9_125742373_125972377 | 125793366 | A | ATATATAT | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02080.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0022 a0001c0001t0002g0043 a0001c0001t0002g0059 others(4): Show |
7 | 127 | 0.0551 | 7 | c.274 others(26): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | chr9 | TogoVar | |||||||
PBX3_chr9_125742373_125972377 | 125971711 | G | GTTTTTTT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0002g0081 a0001c0001t0002g0092 a0001c0001t0003g0003 others(15): Show |
18 | 87 | 0.2069 | 7 | c.*57 others(18): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 4335 | chr9 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45784420 | C | CCCTACCT | intron_variant | MODIFIER | HG02015.hp2 HG03927.hp1 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0144 a0001c0001t0001g0158 a0001c0001t0002g0052 |
3 | 262 | 0.0115 | 7 | c.-12 others(28): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |