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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PALLD_chr4_168492052_168933441 | 168550583 | T | TCCACTCC | intron_variant | MODIFIER | HG00597.hp1 HG00642.hp2 HG01123.hp2 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(13): Show | a0001c0001t0001g0026a0001c0001t0001g0077a0001c0001t0002g0117others(19): Show | 22 | 156 | 0.1410 | 7 | c.908 others(26): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 2/21 | chr4 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168593440 | A | AAAAAAAG | intron_variant | MODIFIER | HG00597.hp1 HG00642.hp2 HG01123.hp2 others(21): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(15): Show | a0001c0001t0001g0026a0001c0001t0001g0077a0001c0001t0002g0112others(21): Show | 24 | 156 | 0.1539 | 7 | c.909 others(26): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168709613 | A | AGGGAGGG | intron_variant | MODIFIER | HG01123.hp2 HG02148.hp2 HG02293.hp2 others(8): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0021others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(4): Show | a0001c0001t0001g0080a0001c0001t0002g0112a0001c0001t0002g0117others(8): Show | 11 | 156 | 0.0705 | 7 | c.162 others(24): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 9/21 | chr4 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168709633 | A | AGTGGGGG | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00735.hp1 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0021others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(15): Show | a0001c0001t0001g0007a0001c0001t0001g0059a0001c0001t0001g0072others(29): Show | 32 | 156 | 0.2051 | 7 | c.162 others(24): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 9/21 | chr4 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168744497 | A | ACTCCAGT | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp1 HG00639.hp1 others(93): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0003a0001c0001t0001g0013a0001c0001t0001g0051others(93): Show | 96 | 156 | 0.6154 | 7 | c.196 others(28): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168761645 | G | GTTTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01123.hp2 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(17): Show | a0001c0001t0001g0072a0001c0001t0002g0117a0001c0001t0002g0145others(19): Show | 22 | 156 | 0.1410 | 7 | c.196 others(28): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168774727 | C | CAAAAAAA | intron_variant | MODIFIER | HG01261.hp2 HG02257.hp1 HG02559.hp1 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(5): Show | a0001c0001t0001g0062a0001c0001t0005g0154a0001c0001t0012g0065others(5): Show | 8 | 156 | 0.0513 | 7 | c.196 others(28): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168850523 | C | CTTTTTTT | intron_variant | MODIFIER | HG01123.hp1 HG02258.hp2 HG02922.hp2 others(2): Show |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0007a0001c0002t0010a0002c0006t0007 | a0001c0002t0007g0050a0001c0002t0010g0092a0001c0002t0010g0093others(2): Show | 5 | 156 | 0.0321 | 7 | c.196 others(28): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 109796671 | A | ATCTTACG | intron_variant | MODIFIER | HG00733.hp1 HG01099.hp1 HG01192.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0002c0002t0003a0002c0002t0004others(5): Show | a0001c0001t0001g0175a0002c0002t0003g0180a0002c0002t0004g0176others(9): Show | 12 | 222 | 0.0541 | 7 | c.45+ others(24): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 109843140 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00609.hp1 others(42): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0005a0001c0001t0001g0061a0001c0001t0001g0074others(42): Show | 45 | 222 | 0.2027 | 7 | c.46- others(24): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 109865096 | C | CTTTTTTT | intron_variant | MODIFIER | HG00621.hp2 HG00741.hp2 HG01175.hp1 others(18): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0006a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0036others(11): Show | a0001c0001t0001g0077a0001c0001t0001g0114a0001c0001t0001g0161others(18): Show | 21 | 222 | 0.0946 | 7 | c.46- others(22): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 109881876 | C | CTTTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00733.hp1 NA18968.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003a0002c0002t0019 | a0001c0001t0001g0028a0001c0001t0001g0175a0002c0002t0003g0007others(2): Show | 5 | 222 | 0.0225 | 7 | c.257 others(24): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 109946687 | C | CAAAAAAA | intron_variant | MODIFIER | HG01891.hp2 HG03491.hp1 HG03492.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0009a0001c0006t0007others(2): Show | a0001c0001t0002g0053a0001c0001t0002g0154a0001c0001t0009g0068others(3): Show | 6 | 222 | 0.0270 | 7 | c.496 others(26): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110011012 | A | ATATATAT | intron_variant | MODIFIER | HG03490.hp1 HG04204.hp2 NA19043.hp2 |
a0001a0003 | a0001c0001a0001c0006a0003c0003 | a0001c0001t0005a0001c0006t0027a0003c0003t0001 | a0001c0001t0005g0051a0001c0006t0027g0174a0003c0003t0001g0186 | 3 | 222 | 0.0135 | 7 | c.497 others(24): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110011014 | A | ATATATAT | intron_variant | MODIFIER | HG02451.hp1 NA18993.hp1 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0004a0002c0004t0034 | a0002c0002t0004g0182a0002c0004t0034g0032 | 2 | 222 | 0.0090 | 7 | c.497 others(24): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110023305 | C | CTTTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG01243.hp2 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0036others(6): Show | a0001c0001t0001g0031a0001c0001t0001g0077a0001c0001t0001g0222others(14): Show | 17 | 222 | 0.0766 | 7 | c.582 others(24): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110091459 | C | CTTTTTTT | intron_variant | MODIFIER | HG00733.hp2 HG01081.hp2 HG01243.hp1 others(30): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(12): Show | a0001c0001t0001g0075a0001c0001t0001g0101a0001c0001t0001g0168others(30): Show | 33 | 222 | 0.1487 | 7 | c.583 others(26): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110109318 | C | CAAAAAAA | intron_variant | MODIFIER | HG01175.hp2 HG01243.hp1 HG01515.hp1 others(8): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0007t0001 | a0001c0001t0002g0021a0001c0001t0002g0036a0001c0001t0002g0053others(8): Show | 11 | 222 | 0.0496 | 7 | c.583 others(26): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PALM2AKAP2_chr9_109775198_110177512 | 110167478 | T | TTGATGCC | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(150): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0006a0001c0007others(15): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(42): Show | a0001c0001t0001g0005a0001c0001t0001g0016a0001c0001t0001g0023others(150): Show | 153 | 222 | 0.6892 | 7 | c.321 others(24): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 10/10 | chr9 | TogoVar | ||||||
PALS1_chr14_67236435_67341061 | 67284547 | T | TAAAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG01175.hp1 HG01361.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0143a0001c0001t0002g0156a0001c0001t0002g0167others(3): Show | 6 | 290 | 0.0207 | 7 | c.367 others(24): Show |
PALS1 | ENSG00000072415.10 | transcript | ENST00000261681.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PAM_chr5_102750305_103034716 | 102942736 | A | ATTTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG00621.hp1 others(72): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0028a0001c0001t0001g0048a0001c0001t0001g0084others(72): Show | 75 | 188 | 0.3989 | 7 | c.527 others(24): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PAN3_chr13_28133545_28300335 | 28141003 | C | CTTTTTTT | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp1 HG01496.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0007a0001c0001t0008others(11): Show | a0001c0001t0005g0172a0001c0001t0005g0173a0001c0001t0005g0175others(24): Show | 27 | 252 | 0.1071 | 7 | c.430 others(24): Show |
PAN3 | ENSG00000152520.14 | transcript | ENST00000380958.8 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PAN3_chr13_28133545_28300335 | 28142511 | A | ATTTTTTT | intron_variant | MODIFIER | HG02135.hp1 HG02895.hp1 HG03098.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0015others(5): Show | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0002g0200others(8): Show | 11 | 252 | 0.0437 | 7 | c.430 others(24): Show |
PAN3 | ENSG00000152520.14 | transcript | ENST00000380958.8 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PANK2_chr20_3884387_3934887 | 3913791 | T | TATATATA | intron_variant | MODIFIER | HG00609.hp1 NA18959.hp1 NA18962.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0004a0002c0002t0010others(2): Show | a0002c0002t0002g0077a0002c0002t0004g0105a0002c0002t0004g0106others(3): Show | 6 | 422 | 0.0142 | 7 | c.108 others(26): Show |
PANK2 | ENSG00000125779.24 | transcript | ENST00000610179.7 | protein_coding | 4/6 | chr20 | TogoVar | ||||||
PANK3_chr5_168543495_168584368 | 168565857 | T | TAAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG02155.hp1 HG02165.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012 | a0001c0001t0005g0050a0001c0001t0005g0051a0001c0001t0005g0052others(9): Show | 12 | 416 | 0.0289 | 7 | c.635 others(22): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 3/6 | chr5 | TogoVar | ||||||
PANK3_chr5_168543495_168584368 | 168573416 | C | CAAAAAAA | intron_variant | MODIFIER | HG01516.hp2 HG02135.hp1 HG03041.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0011others(1): Show | a0001c0001t0002g0024a0001c0001t0002g0133a0001c0001t0002g0168others(4): Show | 8 | 416 | 0.0192 | 7 | c.29- others(22): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 1/6 | chr5 | TogoVar | ||||||
PANX1_chr11_94123841_94186968 | 94162871 | C | CTTTTTTT | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG00741.hp2 others(65): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0194a0001c0001t0001g0214a0001c0001t0001g0221others(50): Show | 68 | 408 | 0.1667 | 7 | c.321 others(24): Show |
PANX1 | ENSG00000110218.9 | transcript | ENST00000227638.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PAPLN_chr14_73232506_73279623 | 73257753 | C | CTTTTTTT | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01074.hp2 others(3): Show |
a0003 | a0003c0002a0003c0012a0003c0061 | a0003c0002t0010a0003c0012t0001a0003c0061t0006 | a0003c0002t0010g0136a0003c0012t0001g0010a0003c0012t0001g0182others(2): Show | 6 | 418 | 0.0144 | 7 | c.162 others(26): Show |
PAPLN | ENSG00000100767.17 | transcript | ENST00000644200.2 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PAPLN_chr14_73232506_73279623 | 73258618 | T | TAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(43): Show |
a0001a0004a0014others(8): Show | a0001c0003a0001c0004a0001c0006others(11): Show | a0001c0003t0001a0001c0003t0006a0001c0004t0001others(15): Show | a0001c0003t0001g0058a0001c0003t0001g0065a0001c0003t0001g0068others(41): Show | 46 | 418 | 0.1101 | 7 | c.162 others(24): Show |
PAPLN | ENSG00000100767.17 | transcript | ENST00000644200.2 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PAPOLB_chr7_4852738_4867030 | 4853742 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG02572.hp2 HG02615.hp1 HG02630.hp2 others(4): Show |
a0004 | a0004c0006 | a0004c0006t0009a0004c0006t0010 | a0004c0006t0009g0000a0004c0006t0010g0000 | 7 | 438 | 0.0160 | 7 | c.*61 others(18): Show |
PAPOLB | ENSG00000218823.2 | transcript | ENST00000404991.2 | protein_coding | 3995 | chr7 | TogoVar | ||||||
PAPPA_chr9_116148791_116407321 | 116284545 | C | CTTTTTTT | intron_variant | MODIFIER | HG02257.hp1 HG02630.hp2 HG03041.hp2 others(2): Show |
a0001a0002a0021 | a0001c0017a0002c0004a0002c0050others(1): Show | a0001c0017t0049a0002c0004t0018a0002c0004t0020others(2): Show | a0001c0017t0049g0231a0002c0004t0018g0204a0002c0004t0020g0005others(2): Show | 5 | 234 | 0.0214 | 7 | c.295 others(28): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PAPPA_chr9_116148791_116407321 | 116289225 | T | TATATGGC | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp2 HG01168.hp2 others(28): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0060others(22): Show | a0001c0001t0001g0184a0001c0001t0003g0075a0001c0001t0003g0215others(28): Show | 31 | 234 | 0.1325 | 7 | c.295 others(28): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PAPPA_chr9_116148791_116407321 | 116360272 | G | GTCTGGGC | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG01243.hp1 others(16): Show |
a0001a0002a0003others(3): Show | a0001c0002a0002c0003a0002c0004others(6): Show | a0001c0002t0022a0002c0003t0001a0002c0003t0002others(10): Show | a0001c0002t0022g0121a0002c0003t0001g0077a0002c0003t0001g0144others(16): Show | 19 | 234 | 0.0812 | 7 | c.434 others(26): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PAPPA_chr9_116148791_116407321 | 116365566 | T | TTTTTTTC | intron_variant | MODIFIER | HG01433.hp1 HG01934.hp1 HG01978.hp2 others(5): Show |
a0001a0002a0014 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0002t0007a0001c0005t0002others(4): Show | a0001c0001t0001g0054a0001c0001t0001g0184a0001c0002t0007g0063others(5): Show | 8 | 234 | 0.0342 | 7 | c.449 others(26): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 18/21 | chr9 | TogoVar | ||||||
PAPSS1_chr4_107608666_107725234 | 107719187 | G | GTTTTTTT | intron_variant | MODIFIER | HG01123.hp2 HG01167.hp2 HG01169.hp1 others(8): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0002others(2): Show | a0001c0001t0001g0053a0001c0001t0001g0054a0001c0001t0001g0055others(8): Show | 11 | 276 | 0.0399 | 7 | c.60+ others(20): Show |
PAPSS1 | ENSG00000138801.9 | transcript | ENST00000265174.5 | protein_coding | 1/11 | chr4 | TogoVar | ||||||
PAPSS2_chr10_87654878_87752705 | 87713312 | T | TAAAAAAA | intron_variant | MODIFIER | HG02080.hp2 HG02451.hp1 HG02486.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0020a0001c0001t0054others(1): Show | a0001c0001t0008g0321a0001c0001t0008g0338a0001c0001t0020g0157others(4): Show | 7 | 372 | 0.0188 | 7 | c.381 others(20): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PAQR5_chr15_69293912_69412780 | 69301859 | A | ATTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp2 HG06807.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0184a0001c0001t0001g0206a0001c0001t0001g0211others(6): Show | 9 | 284 | 0.0317 | 7 | c.-27 others(26): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PAQR5_chr15_69293912_69412780 | 69318367 | G | GTTTAACA | intron_variant | MODIFIER | HG01255.hp2 HG02055.hp1 HG02280.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0015others(4): Show | a0001c0001t0001g0048a0001c0001t0001g0157a0001c0001t0005g0045others(8): Show | 11 | 284 | 0.0387 | 7 | c.-27 others(28): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PAQR5_chr15_69293912_69412780 | 69331073 | C | CTGGGGCG | intron_variant | MODIFIER | HG02895.hp2 HG06807.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0192a0001c0001t0001g0216a0001c0001t0002g0236 | 3 | 284 | 0.0106 | 7 | c.-27 others(26): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PAQR5_chr15_69293912_69412780 | 69378264 | T | TAAAAAAA | intron_variant | MODIFIER | HG01257.hp2 HG02258.hp1 HG03098.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0023 | a0002c0002t0001g0032a0002c0002t0002g0149a0002c0002t0002g0171others(3): Show | 6 | 284 | 0.0211 | 7 | c.52- others(22): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PAQR5_chr15_69293912_69412780 | 69393179 | A | ATTCCAGC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(278): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0008others(278): Show | 281 | 284 | 0.9894 | 7 | c.512 others(24): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PARD3B_chr2_204540475_205625162 | 204766991 | A | ATTTTTTT | intron_variant | MODIFIER | HG02886.hp2 HG03453.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0004a0001c0006a0001c0021 | a0001c0004t0002a0001c0006t0007a0001c0021t0001 | a0001c0004t0002g0035a0001c0006t0007g0013a0001c0006t0007g0018others(1): Show | 4 | 54 | 0.0741 | 7 | c.222 others(26): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PARD3B_chr2_204540475_205625162 | 204820071 | C | CTTTTTTT | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02723.hp2 others(2): Show |
a0002a0003a0006others(1): Show | a0002c0003a0002c0015a0003c0005others(2): Show | a0002c0003t0016a0002c0015t0006a0003c0005t0001others(2): Show | a0002c0003t0016g0046a0002c0015t0006g0024a0003c0005t0001g0010others(2): Show | 5 | 54 | 0.0926 | 7 | c.222 others(28): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PARD3B_chr2_204540475_205625162 | 204897002 | T | TAAAAGGA | intron_variant | MODIFIER | HG03486.hp2 NA19240.hp1 |
a0002a0004 | a0002c0001a0004c0026 | a0002c0001t0001a0004c0026t0004 | a0002c0001t0001g0042a0004c0026t0004g0041 | 2 | 54 | 0.0370 | 7 | c.223 others(26): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PARD3B_chr2_204540475_205625162 | 205103204 | A | AAATAAAC | intron_variant | MODIFIER | HG00609.hp1 HG03471.hp1 NA20300.hp2 |
a0001a0002a0004 | a0001c0021a0002c0001a0004c0020 | a0001c0021t0001a0002c0001t0002a0004c0020t0020 | a0001c0021t0001g0012a0002c0001t0002g0033a0004c0020t0020g0032 | 3 | 54 | 0.0556 | 7 | c.505 others(24): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PARD3B_chr2_204540475_205625162 | 205113623 | T | TGATTTGA | intron_variant | MODIFIER | HG00609.hp1 HG03471.hp1 NA20300.hp2 |
a0001a0002a0004 | a0001c0021a0002c0001a0004c0020 | a0001c0021t0001a0002c0001t0002a0004c0020t0020 | a0001c0021t0001g0012a0002c0001t0002g0033a0004c0020t0020g0032 | 3 | 54 | 0.0556 | 7 | c.680 others(20): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PARD3B_chr2_204540475_205625162 | 205178143 | T | TAAAAAAA | intron_variant | MODIFIER | HG02886.hp2 HG03453.hp1 NA19043.hp2 others(1): Show |
a0001a0004a0007 | a0001c0004a0001c0006a0004c0026others(1): Show | a0001c0004t0002a0001c0006t0007a0004c0026t0004others(1): Show | a0001c0004t0002g0035a0001c0006t0007g0018a0004c0026t0004g0041others(1): Show | 4 | 54 | 0.0741 | 7 | c.192 others(26): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PARD3B_chr2_204540475_205625162 | 205224370 | C | CAAAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02055.hp1 others(18): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0004a0001c0006others(12): Show | a0001c0002t0001a0001c0002t0004a0001c0004t0014others(16): Show | a0001c0002t0001g0008a0001c0002t0001g0027a0001c0002t0004g0029others(18): Show | 21 | 54 | 0.3889 | 7 | c.214 others(28): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PARD3B_chr2_204540475_205625162 | 205331782 | C | CAAAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG02109.hp2 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0022a0002c0003others(5): Show | a0001c0004t0014a0001c0022t0018a0002c0003t0001others(6): Show | a0001c0004t0014g0016a0001c0022t0018g0020a0002c0003t0001g0031others(6): Show | 9 | 54 | 0.1667 | 7 | c.263 others(28): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PARD3B_chr2_204540475_205625162 | 205365549 | C | CTTTTTTT | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02145.hp2 others(11): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0004a0001c0006others(6): Show | a0001c0002t0001a0001c0002t0013a0001c0004t0014others(10): Show | a0001c0002t0001g0027a0001c0002t0013g0022a0001c0004t0014g0016others(11): Show | 14 | 54 | 0.2593 | 7 | c.263 others(28): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |