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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PALLD_chr4_168492052_168933441 | 168593440 | A | AAAAAAAG | intron_variant | MODIFIER | HG00597.hp1 HG00642.hp2 HG01123.hp2 others(20): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(14): Show | a0001c0001t0001g0027 a0001c0001t0001g0077 a0001c0001t0002g0137 others(20): Show |
23 | 82 | 0.2805 | 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 | a0001c0001t0001g0080 a0001c0001t0002g0136 a0001c0001t0002g0137 others(8): Show |
11 | 126 | 0.0873 | 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 | a0001c0001t0001g0008 a0001c0001t0001g0058 a0001c0001t0001g0072 others(29): Show |
32 | 87 | 0.3678 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0051 others(93): Show |
96 | 154 | 0.6234 | 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 | a0001c0001t0001g0072 a0001c0001t0002g0136 a0001c0001t0002g0149 others(19): Show |
22 | 30 | 0.7333 | 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 | a0001c0001t0001g0061 a0001c0001t0005g0154 a0001c0001t0012g0064 others(5): Show |
8 | 63 | 0.1270 | 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 | a0001c0002t0007g0050 a0001c0002t0010g0093 a0001c0002t0010g0094 others(2): Show |
5 | 13 | 0.3846 | 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 | a0001c0001t0001g0189 a0002c0002t0003g0194 a0002c0002t0004g0190 others(9): Show |
12 | 220 | 0.0545 | 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 | a0001c0001t0001g0006 a0001c0001t0001g0062 a0001c0001t0001g0065 others(42): Show |
45 | 71 | 0.6338 | 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 | a0001c0001t0001g0080 a0001c0001t0001g0122 a0001c0001t0001g0145 others(18): Show |
21 | 78 | 0.2692 | 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 | a0001c0001t0001g0030 a0001c0001t0001g0189 a0002c0002t0003g0008 others(2): Show |
5 | 70 | 0.0714 | 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 | a0001c0001t0002g0053 a0001c0001t0002g0138 a0001c0001t0009g0072 others(3): Show |
6 | 125 | 0.0480 | 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 | a0001c0001t0005g0051 a0001c0006t0027g0188 a0003c0003t0001g0201 |
3 | 174 | 0.0172 | 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 | a0002c0002t0004g0196 a0002c0004t0034g0032 |
2 | 89 | 0.0225 | 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 | a0001c0001t0001g0031 a0001c0001t0001g0080 a0001c0001t0001g0222 others(14): Show |
17 | 75 | 0.2267 | 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 | a0001c0001t0001g0078 a0001c0001t0001g0100 a0001c0001t0001g0180 others(30): Show |
33 | 130 | 0.2538 | 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 | a0001c0001t0002g0022 a0001c0001t0002g0037 a0001c0001t0002g0053 others(8): Show |
11 | 110 | 0.1000 | 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(149): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0006a0001c0007others(15): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(42): Show | a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0030 others(149): Show |
152 | 220 | 0.6909 | 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 | a0001c0001t0001g0157 a0001c0001t0001g0168 a0001c0001t0001g0231 others(3): Show |
6 | 142 | 0.0423 | 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(71): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0049 others(70): Show |
74 | 164 | 0.4512 | 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 | a0001c0001t0005g0172 a0001c0001t0005g0173 a0001c0001t0005g0175 others(24): Show |
27 | 200 | 0.1350 | 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 | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0201 others(8): Show |
11 | 121 | 0.0909 | 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 | a0002c0002t0002g0086 a0002c0002t0004g0115 a0002c0002t0004g0116 others(3): Show |
6 | 368 | 0.0163 | 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 | a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0052 others(9): Show |
12 | 335 | 0.0358 | 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 | a0001c0001t0002g0025 a0001c0001t0002g0133 a0001c0001t0002g0167 others(4): Show |
8 | 38 | 0.2105 | 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 | a0001c0001t0001g0192 a0001c0001t0001g0212 a0001c0001t0001g0219 others(49): Show |
68 | 241 | 0.2822 | 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 | a0003c0002t0010g0136 a0003c0012t0001g0020 a0003c0012t0001g0181 others(2): Show |
6 | 123 | 0.0488 | 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(42): Show |
a0001a0004a0013others(8): Show | a0001c0003a0001c0004a0001c0006others(11): Show | a0001c0003t0001a0001c0003t0006a0001c0004t0001others(15): Show | a0001c0003t0001g0067 a0001c0003t0001g0075 a0001c0003t0001g0076 others(37): Show |
45 | 179 | 0.2514 | 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 | a0004c0006t0009g0000 a0004c0006t0010g0000 |
7 | 227 | 0.0308 | 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 |
a0001a0002a0013 | a0001c0017a0002c0004a0002c0050others(1): Show | a0001c0017t0049a0002c0004t0018a0002c0004t0020others(2): Show | a0001c0017t0049g0231 a0002c0004t0018g0204 a0002c0004t0020g0005 others(2): Show |
5 | 33 | 0.1515 | 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 |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0060others(22): Show | a0001c0001t0001g0184 a0001c0001t0003g0075 a0001c0001t0003g0215 others(28): Show |
31 | 232 | 0.1336 | 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(15): Show |
a0001a0002a0003others(3): Show | a0001c0002a0002c0003a0002c0004others(6): Show | a0001c0002t0022a0002c0003t0001a0002c0003t0002others(10): Show | a0001c0002t0022g0121 a0002c0003t0001g0144 a0002c0003t0001g0180 others(15): Show |
18 | 232 | 0.0776 | 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 |
a0001a0002a0010 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0002t0007a0001c0005t0002others(4): Show | a0001c0001t0001g0054 a0001c0001t0001g0184 a0001c0002t0007g0063 others(5): Show |
8 | 139 | 0.0576 | 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 |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0002others(2): Show | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 others(8): Show |
11 | 81 | 0.1358 | 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 | a0001c0001t0008g0322 a0001c0001t0008g0339 a0001c0001t0020g0158 others(4): Show |
7 | 105 | 0.0667 | 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 | 69300590 | C | CTTCTTCT | intron_variant | MODIFIER | HG01884.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0182 a0001c0001t0002g0170 |
2 | 111 | 0.0180 | 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 | 69301859 | A | ATTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp2 HG06807.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0136 a0001c0001t0001g0171 a0001c0001t0001g0172 others(6): Show |
9 | 12 | 0.7500 | 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 | a0001c0001t0001g0047 a0001c0001t0001g0190 a0001c0001t0005g0048 others(8): Show |
11 | 282 | 0.0390 | 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 | a0001c0001t0001g0168 a0001c0001t0001g0188 a0001c0001t0002g0178 |
3 | 282 | 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 | a0002c0002t0001g0035 a0002c0002t0002g0202 a0002c0002t0002g0223 others(3): Show |
6 | 10 | 0.6000 | 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(277): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(277): Show |
280 | 282 | 0.9929 | 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 |
a0002 | a0002c0004a0002c0006a0002c0021 | a0002c0004t0002a0002c0006t0007a0002c0021t0001 | a0002c0004t0002g0035 a0002c0006t0007g0013 a0002c0006t0007g0018 others(1): Show |
4 | 31 | 0.1290 | 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 |
a0001a0003a0008others(1): Show | a0001c0003a0001c0015a0003c0005others(2): Show | a0001c0003t0016a0001c0015t0006a0003c0005t0001others(2): Show | a0001c0003t0016g0046 a0001c0015t0006g0023 a0003c0005t0001g0010 others(2): Show |
5 | 18 | 0.2778 | 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 |
a0001a0004 | a0001c0001a0004c0026 | a0001c0001t0001a0004c0026t0004 | a0001c0001t0001g0042 a0004c0026t0004g0041 |
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 | a0001c0001a0002c0021a0004c0020 | a0001c0001t0002a0002c0021t0001a0004c0020t0020 | a0001c0001t0002g0033 a0002c0021t0001g0012 a0004c0020t0020g0032 |
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 | a0001c0001a0002c0021a0004c0020 | a0001c0001t0002a0002c0021t0001a0004c0020t0020 | a0001c0001t0002g0033 a0002c0021t0001g0012 a0004c0020t0020g0032 |
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 |
a0002a0004a0007 | a0002c0004a0002c0006a0004c0026others(1): Show | a0002c0004t0002a0002c0006t0007a0004c0026t0004others(1): Show | a0002c0004t0002g0035 a0002c0006t0007g0018 a0004c0026t0004g0041 others(1): Show |
4 | 12 | 0.3333 | 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 | a0001c0001a0002c0002a0002c0004others(12): Show | a0001c0001t0001a0001c0001t0010a0002c0002t0001others(16): Show | a0001c0001t0001g0053 a0001c0001t0010g0050 a0002c0002t0001g0008 others(18): Show |
21 | 25 | 0.8400 | 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 | a0001c0003a0002c0004a0002c0022others(5): Show | a0001c0003t0001a0002c0004t0014a0002c0022t0018others(6): Show | a0001c0003t0001g0031 a0002c0004t0014g0016 a0002c0022t0018g0020 others(6): Show |
9 | 13 | 0.6923 | 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 | a0001c0001a0001c0015a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(10): Show | a0001c0001t0001g0042 a0001c0001t0002g0019 a0001c0001t0010g0050 others(11): Show |
14 | 16 | 0.8750 | 7 | c.263 others(28): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |