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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDSS2_chr6_107147562_107464564 | 107337039 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00673.hp2 others(72): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0019others(72): Show | 75 | 260 | 0.2885 | -8 | c.297 others(25): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107417778 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00673.hp1 HG00741.hp1 others(73): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0059others(73): Show | 76 | 260 | 0.2923 | -8 | c.296 others(27): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107429901 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02895.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165a0001c0001t0001g0194a0001c0001t0001g0209others(3): Show | 6 | 260 | 0.0231 | -8 | c.296 others(27): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107435281 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00741.hp1 HG01069.hp1 others(22): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0038others(22): Show | 25 | 260 | 0.0962 | -8 | c.296 others(27): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107454353 | TTCTTTAT others(1): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01099.hp2 HG01255.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0022others(6): Show | 9 | 260 | 0.0346 | -8 | c.296 others(25): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107458412 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp2 others(56): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0019others(56): Show | 59 | 260 | 0.2269 | -8 | c.296 others(23): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
PDXDC1_chr16_14970026_15043332 | 14972327 | TTGTGTGT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG02735.hp1 HG03834.hp1 HG04204.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0003a0002c0002t0001a0002c0002t0009others(3): Show | a0001c0001t0003g0164a0002c0002t0001g0019a0002c0002t0001g0053others(5): Show | 8 | 279 | 0.0287 | -8 | c.-28 others(19): Show |
PDXDC1 | ENSG00000179889.20 | transcript | ENST00000396410.9 | protein_coding | 2698 | chr16 | TogoVar | ||||||
PDXDC1_chr16_14970026_15043332 | 15011631 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp1 others(66): Show |
a0002a0007a0009others(1): Show | a0002c0002a0002c0004a0002c0007others(5): Show | a0002c0002t0001a0002c0002t0008a0002c0002t0009others(12): Show | a0002c0002t0001g0001a0002c0002t0001g0009a0002c0002t0001g0010others(64): Show | 69 | 279 | 0.2473 | -8 | c.727 others(25): Show |
PDXDC1 | ENSG00000179889.20 | transcript | ENST00000396410.9 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PDXK_chr21_43714129_43767299 | 43730102 | CTGATTGA others(1): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01256.hp1 HG02027.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(11): Show | a0001c0001t0001g0105a0001c0001t0001g0302a0001c0001t0001g0303others(24): Show | 27 | 358 | 0.0754 | -8 | c.88- others(23): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDXK_chr21_43714129_43767299 | 43750909 | CGCATGTG others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(120): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(27): Show | a0001c0001t0002g0020a0001c0001t0002g0031a0001c0001t0002g0046others(120): Show | 123 | 358 | 0.3436 | -8 | c.510 others(23): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDXK_chr21_43714129_43767299 | 43760047 | AGGATACC others(1): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00738.hp2 others(37): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0001t0013a0001c0001t0014others(11): Show | a0001c0001t0005g0002a0001c0001t0005g0026a0001c0001t0005g0029others(37): Show | 40 | 358 | 0.1117 | -8 | c.*39 others(19): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 11/11 | 3986 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
PDYN_chr20_1973759_1999058 | 1987248 | GATGAATG others(1): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02486.hp1 HG02572.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0019a0001c0001t0001g0045a0001c0001t0001g0059others(13): Show | 25 | 390 | 0.0641 | -8 | c.-19 others(25): Show |
PDYN | ENSG00000101327.9 | transcript | ENST00000217305.3 | protein_coding | 2/3 | chr20 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31682671 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01358.hp1 HG01884.hp2 HG02647.hp1 others(5): Show |
a0001a0002a0005others(2): Show | a0001c0056a0002c0002a0002c0003others(4): Show | a0001c0056t0001a0002c0002t0008a0002c0002t0018others(5): Show | a0001c0056t0001g0053a0002c0002t0008g0175a0002c0002t0018g0158others(5): Show | 8 | 216 | 0.0370 | -8 | c.-36 others(29): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31694785 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG02055.hp1 HG02258.hp2 others(5): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0010a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0022a0001c0010t0015others(5): Show | a0001c0001t0001g0052a0001c0001t0022g0170a0001c0010t0015g0199others(5): Show | 8 | 216 | 0.0370 | -8 | c.-36 others(29): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31705203 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01109.hp1 HG01192.hp2 others(26): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0017a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(18): Show | a0001c0001t0001g0052a0001c0001t0001g0162a0001c0001t0001g0165others(26): Show | 29 | 216 | 0.1343 | -8 | c.-36 others(29): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31712451 | CCTCTCTC others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(87): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0005a0001c0007others(38): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(63): Show | a0001c0001t0001g0045a0001c0001t0001g0059a0001c0001t0001g0094others(87): Show | 90 | 216 | 0.4167 | -8 | c.-36 others(29): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31712475 | TCTCTCTC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp1 others(47): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0047others(47): Show | 50 | 216 | 0.2315 | -8 | c.-36 others(29): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31740524 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02717.hp1 HG03041.hp2 HG03130.hp1 others(4): Show |
a0001a0004a0031 | a0001c0001a0001c0010a0001c0034others(3): Show | a0001c0001t0010a0001c0001t0017a0001c0010t0015others(4): Show | a0001c0001t0010g0040a0001c0001t0017g0184a0001c0010t0015g0196others(4): Show | 7 | 216 | 0.0324 | -8 | c.-36 others(29): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31775664 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01358.hp1 HG01496.hp1 others(4): Show |
a0001a0002a0012others(2): Show | a0001c0001a0001c0007a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0016a0001c0007t0009others(4): Show | a0001c0001t0001g0047a0001c0001t0016g0057a0001c0007t0009g0172others(4): Show | 7 | 216 | 0.0324 | -8 | c.-36 others(29): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31776450 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp2 HG01243.hp2 others(9): Show |
a0001a0002a0004others(6): Show | a0001c0001a0002c0002a0002c0003others(8): Show | a0001c0001t0001a0002c0002t0002a0002c0003t0002others(8): Show | a0001c0001t0001g0180a0002c0002t0002g0214a0002c0003t0002g0192others(9): Show | 12 | 216 | 0.0556 | -8 | c.-36 others(29): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31776626 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02622.hp2 HG03195.hp2 others(2): Show |
a0002a0004a0006others(2): Show | a0002c0003a0004c0006a0006c0016others(2): Show | a0002c0003t0002a0004c0006t0007a0006c0016t0001others(2): Show | a0002c0003t0002g0171a0004c0006t0007g0201a0006c0016t0001g0061others(2): Show | 5 | 216 | 0.0232 | -8 | c.-36 others(29): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31811991 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01192.hp2 HG02886.hp2 others(5): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0002c0003others(4): Show | a0001c0001t0006a0001c0007t0047a0002c0003t0011others(5): Show | a0001c0001t0006g0041a0001c0007t0047g0035a0002c0003t0011g0067others(5): Show | 8 | 216 | 0.0370 | -8 | c.476 others(27): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31832801 | GCGAGACT others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG01081.hp1 HG01109.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0022a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0035others(4): Show | a0001c0001t0001g0097a0001c0001t0002g0056a0001c0001t0035g0102others(4): Show | 7 | 216 | 0.0324 | -8 | c.476 others(27): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31837016 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp1 HG01071.hp2 others(18): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0007a0001c0022others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0022others(13): Show | a0001c0001t0001g0097a0001c0001t0001g0146a0001c0001t0001g0151others(18): Show | 21 | 216 | 0.0972 | -8 | c.476 others(27): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31840396 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00673.hp1 HG00738.hp1 others(20): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0044others(11): Show | a0001c0001t0001a0001c0001t0008a0001c0005t0001others(16): Show | a0001c0001t0001g0044a0001c0001t0001g0097a0001c0001t0001g0136others(20): Show | 23 | 216 | 0.1065 | -8 | c.476 others(27): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31849883 | TATATACA others(1): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01081.hp2 HG01099.hp1 others(18): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0007a0001c0062others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0009others(15): Show | a0001c0001t0001g0081a0001c0001t0001g0094a0001c0001t0001g0140others(18): Show | 21 | 216 | 0.0972 | -8 | c.476 others(27): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31849957 | TATATACA others(1): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02622.hp2 others(5): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0062a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0062t0003others(3): Show | a0001c0001t0001g0045a0001c0001t0001g0059a0001c0001t0001g0081others(5): Show | 8 | 216 | 0.0370 | -8 | c.476 others(27): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31856908 | CTATATAT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00597.hp1 others(67): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0007others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0045a0001c0001t0001g0052a0001c0001t0001g0059others(67): Show | 70 | 216 | 0.3241 | -8 | c.476 others(27): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31873533 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG02717.hp2 HG03654.hp2 NA18953.hp1 |
a0001a0002a0022 | a0001c0007a0002c0002a0022c0057 | a0001c0007t0009a0002c0002t0001a0022c0057t0001 | a0001c0007t0009g0172a0002c0002t0001g0076a0022c0057t0001g0137 | 3 | 216 | 0.0139 | -8 | c.476 others(27): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31880791 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02280.hp2 others(5): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0034a0001c0056others(4): Show | a0001c0001t0001a0001c0034t0019a0001c0056t0001others(4): Show | a0001c0001t0001g0059a0001c0001t0001g0180a0001c0034t0019g0212others(5): Show | 8 | 216 | 0.0370 | -8 | c.476 others(27): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31881326 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01361.hp2 HG01433.hp2 others(9): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0086a0001c0001t0001g0096a0001c0001t0002g0036others(9): Show | 12 | 216 | 0.0556 | -8 | c.476 others(27): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31884231 | GCATACAT others(1): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01952.hp2 HG02602.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0022a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0022t0001others(1): Show | a0001c0001t0001g0038a0001c0001t0002g0095a0001c0022t0001g0087others(1): Show | 4 | 216 | 0.0185 | -8 | c.476 others(27): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31896323 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG02280.hp1 HG02647.hp1 others(6): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0007a0001c0024others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0017others(5): Show | a0001c0001t0001g0195a0001c0001t0008g0161a0001c0001t0017g0185others(6): Show | 9 | 216 | 0.0417 | -8 | c.477 others(27): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31932552 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp1 others(161): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0005a0001c0007others(48): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(95): Show | a0001c0001t0001g0037a0001c0001t0001g0044a0001c0001t0001g0045others(161): Show | 164 | 216 | 0.7593 | -8 | c.477 others(27): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31969889 | GTTTATTT others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00735.hp1 HG01109.hp1 others(34): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0050others(13): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0020others(23): Show | a0001c0001t0001g0038a0001c0001t0001g0047a0001c0001t0001g0052others(34): Show | 37 | 216 | 0.1713 | -8 | c.477 others(27): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31975799 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG01952.hp1 HG02451.hp2 HG02886.hp2 others(3): Show |
a0001a0003a0009others(1): Show | a0001c0001a0003c0004a0009c0020others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0136a0001c0001t0002g0117a0001c0001t0005g0010others(3): Show | 6 | 216 | 0.0278 | -8 | c.477 others(25): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 32014706 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(71): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0005a0001c0044others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0047others(71): Show | 74 | 216 | 0.3426 | -8 | c.140 others(27): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 32025526 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(87): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0005a0001c0010others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(55): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0047others(87): Show | 90 | 216 | 0.4167 | -8 | c.140 others(29): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 32025550 | CAAACAAA others(1): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02897.hp1 HG03041.hp2 others(4): Show |
a0001a0002a0004others(3): Show | a0001c0010a0002c0003a0004c0006others(4): Show | a0001c0010t0015a0002c0003t0002a0004c0006t0010others(4): Show | a0001c0010t0015g0196a0002c0003t0002g0192a0004c0006t0010g0073others(4): Show | 7 | 216 | 0.0324 | -8 | c.140 others(29): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 32039093 | TCTCTCCC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(69): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0005a0001c0036others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(69): Show | 72 | 216 | 0.3333 | -8 | c.151 others(27): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 32054312 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02145.hp2 others(9): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0007a0001c0056others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0017others(7): Show | a0001c0001t0001g0045a0001c0001t0001g0059a0001c0001t0001g0195others(9): Show | 12 | 216 | 0.0556 | -8 | c.190 others(25): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD7_chr10_101002679_101036129 | 101017838 | GGAAAGAA others(1): Show |
G | intron_variant | MODIFIER | HG00621.hp2 NA19066.hp2 NA19074.hp2 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0005a0002c0002t0002a0003c0003t0005 | a0001c0001t0005g0284a0002c0002t0002g0288a0003c0003t0005g0086 | 3 | 432 | 0.0069 | -8 | c.152 others(25): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 9/16 | chr10 | TogoVar | ||||||
PDZD7_chr10_101002679_101036129 | 101026663 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG02559.hp2 HG02735.hp2 others(7): Show |
a0002a0003a0004others(1): Show | a0002c0002a0002c0011a0003c0003others(2): Show | a0002c0002t0001a0002c0011t0001a0002c0011t0003others(3): Show | a0002c0002t0001g0101a0002c0002t0001g0102a0002c0011t0001g0262others(7): Show | 10 | 432 | 0.0232 | -8 | c.227 others(25): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 2/16 | chr10 | TogoVar | ||||||
PDZD8_chr10_117272274_117380440 | 117281351 | CAAAAAAA others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG01106.hp1 HG01433.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0051a0001c0002t0030a0001c0002t0042others(4): Show | a0001c0001t0051g0268a0001c0002t0030g0010a0001c0002t0042g0132others(8): Show | 11 | 322 | 0.0342 | -8 | c.*19 others(19): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 5/5 | 1909 | chr10 | TogoVar | |||||
PDZD8_chr10_117272274_117380440 | 117305471 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0026a0001c0002t0021a0001c0002t0034others(1): Show | a0001c0001t0026g0166a0001c0002t0021g0129a0001c0002t0034g0048others(1): Show | 4 | 322 | 0.0124 | -8 | c.109 others(29): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 3/4 | chr10 | TogoVar | ||||||
PDZD8_chr10_117272274_117380440 | 117319392 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG01109.hp2 HG01257.hp2 others(20): Show |
a0001a0006 | a0001c0002a0006c0010 | a0001c0002t0004a0001c0002t0005a0001c0002t0011others(4): Show | a0001c0002t0004g0135a0001c0002t0005g0020a0001c0002t0005g0021others(20): Show | 23 | 322 | 0.0714 | -8 | c.996 others(23): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
PDZD8_chr10_117272274_117380440 | 117319427 | ACACACAC others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp2 others(41): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0190a0001c0001t0001g0196others(40): Show | 44 | 322 | 0.1367 | -8 | c.996 others(23): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
PDZD8_chr10_117272274_117380440 | 117329967 | GGGAAGGA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG01071.hp2 others(55): Show |
a0001 | a0001c0001a0001c0002a0001c0012others(1): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(11): Show | a0001c0001t0003g0141a0001c0001t0003g0142a0001c0001t0003g0145others(55): Show | 58 | 322 | 0.1801 | -8 | c.996 others(27): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
PDZK1IP1_chr1_47178582_47195036 | 47191385 | CTGTGTGT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(93): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(22): Show | 96 | 426 | 0.2254 | -8 | c.-14 others(19): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 1350 | chr1 | TogoVar | ||||||
PDZRN3_chr3_73377431_73629941 | 73387534 | ATATCAGT others(1): Show |
A | intron_variant | MODIFIER | HG02896.hp1 HG02976.hp2 HG03540.hp2 |
a0001 | a0001c0001a0001c0004a0001c0013 | a0001c0001t0002a0001c0004t0002a0001c0013t0002 | a0001c0001t0002g0044a0001c0004t0002g0203a0001c0013t0002g0187 | 3 | 216 | 0.0139 | -8 | c.151 others(25): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 8/9 | chr3 | TogoVar |