regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
a0001a0002a0006others(1): Show | a0001c0002a0002c0001a0006c0014others(1): Show | a0001c0002t0004a0002c0001t0002a0006c0014t0011others(1): Show | a0001c0002t0004g0029a0002c0001t0002g0033a0006c0014t0011g0023others(1): Show | 4 | 54 | 0.0741 | 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 | a0001c0002a0001c0004a0001c0008others(6): Show | a0001c0002t0001a0001c0004t0002a0001c0008t0004others(6): Show | a0001c0002t0001g0008a0001c0004t0002g0035a0001c0008t0004g0028others(6): Show | 9 | 54 | 0.1667 | 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 | a0001c0001t0001g0067a0001c0001t0002g0027a0001c0001t0003g0055others(7): Show | 10 | 100 | 0.1000 | 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 | a0001c0001t0001g0048a0001c0001t0001g0060a0001c0001t0001g0066others(7): Show | 10 | 100 | 0.1000 | 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 | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0074others(24): Show | 27 | 100 | 0.2700 | 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 | a0001c0001t0001g0067a0001c0001t0001g0074a0001c0001t0001g0085others(5): Show | 8 | 100 | 0.0800 | 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 | a0001c0001t0002g0023a0001c0001t0015g0008a0001c0002t0002g0005others(13): Show | 16 | 100 | 0.1600 | 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 | a0001c0001t0003g0006a0001c0001t0003g0007a0001c0001t0003g0008others(14): Show | 17 | 292 | 0.0582 | 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 | a0001c0001t0002g0019a0001c0001t0008g0020 | 2 | 169 | 0.0118 | 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 | a0001c0001t0002g0009a0001c0001t0002g0031a0001c0001t0002g0051others(19): Show | 29 | 416 | 0.0697 | 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 | a0001c0001t0001g0287a0002c0002t0003g0214a0007c0007t0026g0148others(12): Show | 15 | 356 | 0.0421 | 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 | a0001c0001t0001g0083a0001c0001t0001g0109a0001c0001t0001g0110others(11): Show | 16 | 316 | 0.0506 | 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 |
a0006a0008 | a0006c0006a0008c0010 | a0006c0006t0001a0008c0010t0003 | a0006c0006t0001g0344a0006c0006t0001g0345a0006c0006t0001g0346others(8): Show | 11 | 362 | 0.0304 | 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 | a0002c0002t0001g0106a0002c0002t0001g0107a0002c0002t0001g0108others(3): Show | 6 | 362 | 0.0166 | 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 | a0001c0002t0001g0011a0001c0002t0001g0012a0001c0002t0001g0076others(17): Show | 22 | 436 | 0.0505 | 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(63): Show |
a0001a0002a0009others(1): Show | a0001c0003a0002c0001a0009c0010others(1): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(5): Show | a0001c0003t0001g0022a0001c0003t0002g0001a0001c0003t0002g0002others(43): Show | 66 | 436 | 0.1514 | 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(43): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0025a0001c0001t0001g0027a0001c0001t0001g0063others(43): Show | 46 | 286 | 0.1608 | 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 | a0001c0001t0001g0018a0001c0001t0001g0020a0001c0001t0001g0110others(56): Show | 59 | 286 | 0.2063 | 7 | c.868 others(22): Show |
PARVA | ENSG00000197702.14 | transcript | ENST00000334956.15 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PASD1_chrX_151558675_151681739 | 151562857 | C | CGGGGGGT | upstream_gene_variant | MODIFIER | HG01496.hp2 HG02615.hp1 HG03927.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0011t0003others(1): Show | a0001c0001t0001g0017a0001c0002t0002g0004a0001c0011t0003g0011others(1): Show | 4 | 221 | 0.0181 | 7 | c.-10 others(18): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 817 | chrX | TogoVar | ||||||
PASD1_chrX_151558675_151681739 | 151562866 | G | GGGGGGGC | upstream_gene_variant | MODIFIER | HG02280.hp2 HG03130.hp1 |
a0001a0004 | a0001c0002a0004c0013 | a0001c0002t0002a0004c0013t0002 | a0001c0002t0002g0173a0004c0013t0002g0032 | 2 | 221 | 0.0091 | 7 | c.-10 others(18): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 808 | chrX | TogoVar | ||||||
PASD1_chrX_151558675_151681739 | 151562893 | G | GGGGCGGC | upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0155 | 1 | 221 | 0.0045 | 7 | c.-97 others(16): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 781 | chrX | TogoVar | ||||||
PASD1_chrX_151558675_151681739 | 151562916 | C | CGGGGGCG | upstream_gene_variant | MODIFIER | NA18965.hp1 NA18989.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0208a0001c0003t0003g0214 | 2 | 221 | 0.0091 | 7 | c.-95 others(16): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 758 | chrX | TogoVar | ||||||
PASD1_chrX_151558675_151681739 | 151652716 | A | AGACATCT | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0045 | 1 | 221 | 0.0045 | 7 | c.717 others(24): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chrX | 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 | a0001c0001t0001g0100a0001c0002t0001g0197a0002c0005t0001g0223others(40): Show | 45 | 376 | 0.1197 | 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 |
a0002a0005a0013 | a0002c0006a0005c0013a0005c0021others(1): Show | a0002c0006t0002a0005c0013t0002a0005c0021t0002others(1): Show | a0002c0006t0002g0287a0005c0013t0002g0253a0005c0013t0002g0280others(3): Show | 6 | 376 | 0.0160 | 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 | a0001c0008t0001a0001c0021t0001a0001c0022t0029others(90): Show | a0001c0008t0001g0067a0001c0021t0001g0113a0001c0022t0029g0111others(96): Show | 99 | 158 | 0.6266 | 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 |
a0001a0002a0007others(2): Show | a0001c0088a0002c0012a0007c0042others(4): Show | a0001c0088t0010a0002c0012t0010a0007c0042t0005others(4): Show | a0001c0088t0010g0016a0002c0012t0010g0150a0007c0042t0005g0136others(4): Show | 7 | 158 | 0.0443 | 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(23): Show |
a0001a0002a0003others(13): Show | a0001c0008a0001c0046a0001c0048others(21): Show | a0001c0008t0016a0001c0046t0016a0001c0048t0009others(22): Show | a0001c0008t0016g0047a0001c0046t0016g0106a0001c0048t0009g0080others(23): Show | 26 | 158 | 0.1646 | 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(63): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0008a0001c0021others(58): Show | a0001c0001t0002a0001c0001t0010a0001c0008t0016others(60): Show | a0001c0001t0002g0151a0001c0001t0010g0014a0001c0008t0016g0047others(63): Show | 66 | 158 | 0.4177 | 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 |
a0002a0007a0008others(1): Show | a0002c0012a0002c0030a0007c0042others(2): Show | a0002c0012t0005a0002c0030t0005a0007c0042t0005others(2): Show | a0002c0012t0005g0130a0002c0030t0005g0121a0007c0042t0005g0136others(2): Show | 5 | 158 | 0.0317 | 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 |
a0001a0007a0010others(3): Show | a0001c0092a0007c0123a0010c0005others(6): Show | a0001c0092t0006a0007c0123t0001a0010c0005t0001others(6): Show | a0001c0092t0006g0158a0007c0123t0001g0017a0010c0005t0001g0129others(6): Show | 9 | 158 | 0.0570 | 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 |
a0010a0043a0051 | a0010c0005a0010c0025a0043c0060others(1): Show | a0010c0005t0001a0010c0025t0001a0043c0060t0001others(1): Show | a0010c0005t0001g0129a0010c0025t0001g0140a0043c0060t0001g0128others(1): Show | 4 | 158 | 0.0253 | 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 | a0003c0005t0007g0003a0003c0005t0007g0164a0003c0005t0007g0165others(2): Show | 5 | 256 | 0.0195 | 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 | a0001c0001t0002g0060a0001c0001t0002g0061a0001c0001t0002g0066others(6): Show | 9 | 256 | 0.0352 | 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 | a0001c0001t0004g0128a0001c0001t0010g0126a0001c0001t0010g0127others(1): Show | 4 | 256 | 0.0156 | 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 | a0001c0001t0009a0001c0001t0049 | a0001c0001t0009g0013a0001c0001t0009g0085a0001c0001t0009g0086others(2): Show | 8 | 400 | 0.0200 | 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(189): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(43): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0018others(188): Show | 192 | 232 | 0.8276 | 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 | a0001c0001t0001g0089a0001c0001t0001g0151a0001c0002t0005g0002 | 3 | 232 | 0.0129 | 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 | a0001c0001t0001a0001c0001t0010a0001c0001t0028others(13): Show | a0001c0001t0001g0117a0001c0001t0001g0131a0001c0001t0001g0255others(19): Show | 22 | 274 | 0.0803 | 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(13): Show | a0001c0001t0001g0116a0001c0001t0001g0123a0001c0001t0001g0152others(19): Show | 22 | 274 | 0.0803 | 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 | a0001c0001t0001g0151a0001c0001t0001g0179a0001c0001t0001g0265others(20): Show | 23 | 302 | 0.0762 | 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 | a0001c0001t0001g0061a0001c0001t0001g0102a0001c0001t0008g0015others(2): Show | 5 | 302 | 0.0166 | 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 | a0001c0001t0002g0076a0001c0001t0004g0075a0001c0001t0009g0022others(1): Show | 6 | 446 | 0.0135 | 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 | a0001c0001t0004g0007a0001c0001t0004g0058a0001c0001t0004g0059others(135): Show | 213 | 362 | 0.5884 | 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 | a0001c0004t0001g0306a0001c0006t0001g0304a0002c0002t0002g0299 | 3 | 364 | 0.0082 | 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 | a0001c0001t0001g0081a0001c0001t0004g0056a0001c0001t0004g0183others(6): Show | 9 | 184 | 0.0489 | 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 | a0001c0001t0001g0065a0001c0001t0002g0077a0001c0001t0005g0078others(3): Show | 6 | 184 | 0.0326 | 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(41): Show | a0001c0001t0001g0014a0001c0001t0001g0021a0001c0001t0001g0027others(145): Show | 148 | 184 | 0.8044 | 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 | a0001c0001t0001g0117a0001c0001t0001g0123a0001c0001t0019g0158others(6): Show | 9 | 184 | 0.0489 | 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(37): Show | a0001c0001t0001g0014a0001c0001t0001g0021a0001c0001t0001g0027others(148): Show | 151 | 184 | 0.8207 | 7 | c.838 others(22): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 5/8 | chr1 | TogoVar |