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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NXN_chr17_794310_984776 | 831469 | ATTTATTT others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00544.hp1 others(89): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0017 a0001c0001t0001g0046 a0001c0001t0001g0047 others(89): Show |
92 | 242 | 0.3802 | -9 | c.361 others(26): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 852831 | TTTAATGC others(2): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02723.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0063 a0001c0001t0001g0171 a0001c0001t0001g0226 others(4): Show |
7 | 242 | 0.0289 | -9 | c.361 others(28): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 894994 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00735.hp1 HG01081.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0034 a0001c0001t0001g0145 a0001c0001t0001g0146 others(4): Show |
7 | 242 | 0.0289 | -9 | c.361 others(28): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 927580 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01167.hp1 HG01192.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0029 a0001c0001t0001g0047 a0001c0001t0001g0094 others(14): Show |
17 | 242 | 0.0703 | -9 | c.360 others(28): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXPE3_chr3_101774211_101833231 | 101818716 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01884.hp1 HG02080.hp1 others(10): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0018a0001c0001t0024others(5): Show | a0001c0001t0001g0022 a0001c0001t0001g0037 a0001c0001t0001g0093 others(10): Show |
13 | 380 | 0.0342 | -9 | c.112 others(28): Show |
NXPE3 | ENSG00000144815.18 | transcript | ENST00000273347.10 | protein_coding | 7/7 | chr3 | TogoVar | |||||||
NXPH1_chr7_8428609_8757961 | 8739171 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01346.hp2 HG02109.hp1 HG02809.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0054 others(3): Show |
6 | 208 | 0.0289 | -9 | c.55- others(26): Show |
NXPH1 | ENSG00000122584.13 | transcript | ENST00000405863.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NXPH1_chr7_8428609_8757961 | 8756316 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01978.hp1 HG02145.hp2 HG02723.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0014 a0001c0001t0001g0052 a0001c0001t0001g0123 others(2): Show |
5 | 208 | 0.0240 | -9 | c.*45 others(20): Show |
NXPH1 | ENSG00000122584.13 | transcript | ENST00000405863.6 | protein_coding | 3356 | chr7 | TogoVar | |||||||
NXPH4_chr12_57211794_57231449 | 57216833 | GCCGCCGC others(2): Show |
G | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(349): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(102): Show |
352 | 382 | 0.9215 | -9 | c.-10 others(17): Show |
NXPH4 | ENSG00000182379.10 | transcript | ENST00000349394.6 | protein_coding | 1/2 | 97 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NYAP2_chr2_225394710_225708654 | 225395469 | ACTCTCTC others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02818.hp1 HG03453.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0014 | a0001c0001t0026a0001c0002t0023a0001c0002t0024others(1): Show | a0001c0001t0026g0187 a0001c0002t0023g0189 a0001c0002t0024g0186 others(1): Show |
4 | 192 | 0.0208 | -9 | c.-52 others(20): Show |
NYAP2 | ENSG00000144460.13 | transcript | ENST00000272907.8 | protein_coding | 4240 | chr2 | TogoVar | |||||||
NYAP2_chr2_225394710_225708654 | 225532855 | TCAGTGTT others(2): Show |
T | intron_variant | MODIFIER | HG02818.hp2 HG02886.hp1 HG02896.hp1 others(6): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0017others(3): Show | a0001c0001t0002g0004 a0001c0001t0004g0015 a0001c0001t0004g0017 others(6): Show |
9 | 192 | 0.0469 | -9 | c.523 others(28): Show |
NYAP2 | ENSG00000144460.13 | transcript | ENST00000272907.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NYAP2_chr2_225394710_225708654 | 225657102 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00558.hp2 others(33): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0105 a0001c0001t0003g0007 a0001c0001t0003g0013 others(33): Show |
36 | 192 | 0.1875 | -9 | c.193 others(28): Show |
NYAP2 | ENSG00000144460.13 | transcript | ENST00000272907.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NYAP2_chr2_225394710_225708654 | 225704811 | GCAAAAAA others(2): Show |
G | downstream_gene_variant | MODIFIER | HG02818.hp2 NA18522.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0015 a0001c0001t0004g0020 a0001c0001t0004g0098 |
3 | 192 | 0.0156 | -9 | c.*62 others(20): Show |
NYAP2 | ENSG00000144460.13 | transcript | ENST00000272907.8 | protein_coding | 1158 | chr2 | TogoVar | |||||||
NYX_chrX_41442343_41480652 | 41444379 | CAAACAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0217 | 1 | 310 | 0.0032 | -9 | c.-31 others(20): Show |
NYX | ENSG00000188937.7 | transcript | ENST00000378220.3 | protein_coding | 2963 | chrX | TogoVar | |||||||
NYX_chrX_41442343_41480652 | 41450828 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02683.hp2 others(11): Show |
a0001a0003a0006 | a0001c0001a0001c0003a0003c0006others(1): Show | a0001c0001t0002a0001c0003t0002a0001c0003t0009others(2): Show | a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 others(11): Show |
14 | 310 | 0.0452 | -9 | c.22+ others(24): Show |
NYX | ENSG00000188937.7 | transcript | ENST00000378220.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NYX_chrX_41442343_41480652 | 41460876 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156 | 1 | 310 | 0.0032 | -9 | c.23- others(26): Show |
NYX | ENSG00000188937.7 | transcript | ENST00000378220.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
OAF_chr11_120206032_120235334 | 120212380 | GCTGGGGG others(2): Show |
G | intron_variant | MODIFIER | HG02717.hp1 HG03041.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 3 | 400 | 0.0075 | -9 | c.231 others(24): Show |
OAF | ENSG00000184232.9 | transcript | ENST00000328965.9 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
OAS3_chr12_112933474_112978251 | 112934452 | AAAAAAAA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG01081.hp1 others(40): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0003a0001c0013others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0020 a0001c0001t0001g0063 a0001c0001t0002g0005 others(32): Show |
43 | 370 | 0.1162 | -9 | c.-40 others(20): Show |
OAS3 | ENSG00000111331.14 | transcript | ENST00000228928.12 | protein_coding | 4021 | chr12 | TogoVar | |||||||
OAS3_chr12_112933474_112978251 | 112939306 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01884.hp1 HG02145.hp1 others(3): Show |
a0004a0007a0014 | a0004c0006a0004c0018a0007c0012others(1): Show | a0004c0006t0007a0004c0018t0012a0007c0012t0019others(1): Show | a0004c0006t0007g0018 a0004c0018t0012g0062 a0007c0012t0019g0061 others(1): Show |
6 | 370 | 0.0162 | -9 | c.177 others(24): Show |
OAS3 | ENSG00000111331.14 | transcript | ENST00000228928.12 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
OAS3_chr12_112933474_112978251 | 112951839 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG00735.hp2 others(31): Show |
a0001a0002a0011 | a0001c0005a0001c0016a0001c0019others(3): Show | a0001c0005t0001a0001c0005t0038a0001c0016t0001others(4): Show | a0001c0005t0001g0004 a0001c0005t0001g0021 a0001c0005t0001g0030 others(20): Show |
34 | 370 | 0.0919 | -9 | c.165 others(26): Show |
OAS3 | ENSG00000111331.14 | transcript | ENST00000228928.12 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
OAT_chr10_124392303_124423923 | 124408337 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02630.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0247 others(3): Show |
6 | 382 | 0.0157 | -9 | c.520 others(24): Show |
OAT | ENSG00000065154.12 | transcript | ENST00000368845.6 | protein_coding | 4/9 | chr10 | TogoVar | |||||||
OAT_chr10_124392303_124423923 | 124418675 | GGTCCGAG others(2): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02258.hp2 HG02280.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0011 a0001c0001t0001g0168 a0001c0001t0001g0169 others(7): Show |
11 | 382 | 0.0288 | -9 | c.-30 others(24): Show |
OAT | ENSG00000065154.12 | transcript | ENST00000368845.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
OBSCN_chr1_228203044_228383876 | 228348157 | CTCTTCTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(98): Show |
a0002a0003a0009others(48): Show | a0002c0002a0002c0134a0002c0136others(62): Show | a0002c0002t0001a0002c0134t0001a0002c0136t0001others(62): Show | a0002c0002t0001g0085 a0002c0002t0001g0089 a0002c0002t0001g0151 others(98): Show |
101 | 320 | 0.3156 | -9 | c.210 others(30): Show |
OBSCN | ENSG00000154358.23 | transcript | ENST00000680850.1 | protein_coding | 86/115 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OCA2_chr15_27749875_28104315 | 27823396 | CGATTATA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(53): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0016 others(53): Show |
56 | 110 | 0.5091 | -9 | c.243 others(30): Show |
OCA2 | ENSG00000104044.16 | transcript | ENST00000354638.8 | protein_coding | 23/23 | chr15 | TogoVar | |||||||
OCA2_chr15_27749875_28104315 | 28009816 | GGAAAATC others(2): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02723.hp2 others(2): Show |
a0004a0012 | a0004c0017a0004c0039a0004c0040others(1): Show | a0004c0017t0001a0004c0039t0001a0004c0040t0001others(1): Show | a0004c0017t0001g0104 a0004c0017t0001g0109 a0004c0039t0001g0095 others(2): Show |
5 | 110 | 0.0455 | -9 | c.104 others(28): Show |
OCA2 | ENSG00000104044.16 | transcript | ENST00000354638.8 | protein_coding | 9/23 | chr15 | TogoVar | |||||||
OCLN_chr5_69487790_69563104 | 69537189 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG01167.hp1 HG01256.hp2 others(31): Show |
a0001a0003a0004 | a0001c0001a0001c0009a0003c0006others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0214 others(29): Show |
34 | 290 | 0.1172 | -9 | c.103 others(28): Show |
OCLN | ENSG00000197822.12 | transcript | ENST00000396442.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ODAD1_chr19_48291462_48326971 | 48313439 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01515.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0034 a0001c0002t0003g0035 a0001c0002t0003g0036 others(5): Show |
11 | 398 | 0.0276 | -9 | c.361 others(26): Show |
ODAD1 | ENSG00000105479.16 | transcript | ENST00000674294.1 | protein_coding | 5/15 | chr19 | TogoVar | |||||||
ODAD2_chr10_27807168_28004079 | 27885631 | AATATATA others(2): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02717.hp2 HG02886.hp2 others(2): Show |
a0001a0003 | a0001c0014a0001c0035a0003c0019others(1): Show | a0001c0014t0002a0001c0014t0005a0001c0035t0001others(2): Show | a0001c0014t0002g0260 a0001c0014t0005g0213 a0001c0035t0001g0142 others(2): Show |
5 | 304 | 0.0165 | -9 | c.261 others(30): Show |
ODAD2 | ENSG00000169126.16 | transcript | ENST00000305242.10 | protein_coding | 17/19 | chr10 | TogoVar | |||||||
ODAD2_chr10_27807168_28004079 | 27939394 | CTGTCTAT others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00609.hp1 others(41): Show |
a0001a0002a0004others(3): Show | a0001c0002a0002c0003a0004c0004others(3): Show | a0001c0002t0002a0002c0003t0002a0004c0004t0001others(5): Show | a0001c0002t0002g0001 a0001c0002t0002g0093 a0001c0002t0002g0097 others(40): Show |
44 | 304 | 0.1447 | -9 | c.209 others(26): Show |
ODAD2 | ENSG00000169126.16 | transcript | ENST00000305242.10 | protein_coding | 14/19 | chr10 | TogoVar | |||||||
ODAD2_chr10_27807168_28004079 | 27943795 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01258.hp2 HG01261.hp1 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0014others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(5): Show | a0001c0001t0001g0140 a0001c0001t0002g0104 a0001c0002t0002g0001 others(10): Show |
14 | 304 | 0.0461 | -9 | c.174 others(26): Show |
ODAD2 | ENSG00000169126.16 | transcript | ENST00000305242.10 | protein_coding | 12/19 | chr10 | TogoVar | |||||||
ODAD2_chr10_27807168_28004079 | 27960313 | CATTATTA others(2): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01516.hp2 HG02258.hp2 others(9): Show |
a0001a0003a0007others(2): Show | a0001c0001a0001c0002a0001c0010others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(7): Show | a0001c0001t0001g0215 a0001c0001t0004g0198 a0001c0002t0002g0077 others(9): Show |
12 | 304 | 0.0395 | -9 | c.138 others(28): Show |
ODAD2 | ENSG00000169126.16 | transcript | ENST00000305242.10 | protein_coding | 10/19 | chr10 | TogoVar | |||||||
ODAPH_chr4_75551066_75569817 | 75563005 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00673.hp2 HG01070.hp2 others(19): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0027 others(6): Show |
22 | 454 | 0.0485 | -9 | c.68- others(24): Show |
ODAPH | ENSG00000174792.11 | transcript | ENST00000311623.9 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ODF3L2_chr19_458361_479983 | 459119 | AATATAAG others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00735.hp1 others(16): Show |
a0002a0004 | a0002c0002a0002c0013a0004c0006 | a0002c0002t0003a0002c0013t0003a0004c0006t0003 | a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0032 others(9): Show |
19 | 324 | 0.0586 | -9 | c.*47 others(20): Show |
ODF3L2 | ENSG00000181781.10 | transcript | ENST00000315489.5 | protein_coding | 4241 | chr19 | TogoVar | |||||||
OFD1_chrX_13729748_13774357 | 13754086 | ATTCTTCC others(2): Show |
A | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 327 | 0.0031 | -9 | c.112 others(26): Show |
OFD1 | ENSG00000046651.16 | transcript | ENST00000340096.11 | protein_coding | 11/22 | chrX | TogoVar | |||||||
OGDHL_chr10_49729641_49767323 | 49741889 | CACCACAC others(2): Show |
C | intron_variant | MODIFIER | NA18964.hp1 NA18965.hp1 NA19000.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0008 | 5 | 316 | 0.0158 | -9 | c.201 others(26): Show |
OGDHL | ENSG00000197444.10 | transcript | ENST00000374103.9 | protein_coding | 15/22 | chr10 | TogoVar | |||||||
OGFR_chr20_62799835_62819000 | 62808974 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00735.hp2 others(38): Show |
a0001a0002a0005others(5): Show | a0001c0011a0001c0019a0001c0034others(9): Show | a0001c0011t0001a0001c0011t0004a0001c0019t0001others(10): Show | a0001c0011t0001g0013 a0001c0011t0001g0053 a0001c0011t0001g0063 others(22): Show |
41 | 422 | 0.0972 | -9 | c.320 others(24): Show |
OGFR | ENSG00000060491.17 | transcript | ENST00000290291.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
OIP5_chr15_41304273_41337591 | 41329063 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG00642.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0014 others(17): Show |
33 | 356 | 0.0927 | -9 | c.389 others(26): Show |
OIP5 | ENSG00000104147.9 | transcript | ENST00000220514.8 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
OIP5_chr15_41304273_41337591 | 41336759 | ACCTCAGC others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01496.hp2 HG02451.hp1 HG03195.hp2 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0005 | a0001c0001t0001g0030 a0005c0007t0005g0036 |
3 | 356 | 0.0084 | -9 | c.-42 others(20): Show |
OIP5 | ENSG00000104147.9 | transcript | ENST00000220514.8 | protein_coding | 4169 | chr15 | TogoVar | |||||||
OLA1_chr2_174067447_174253532 | 174091869 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG00735.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0098 others(16): Show |
19 | 262 | 0.0725 | -9 | c.729 others(26): Show |
OLA1 | ENSG00000138430.16 | transcript | ENST00000284719.8 | protein_coding | 7/10 | chr2 | TogoVar | |||||||
OLA1_chr2_174067447_174253532 | 174103183 | ACATGTGT others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG00735.hp2 others(38): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0003a0001c0001t0008a0001c0001t0009others(16): Show | a0001c0001t0003g0135 a0001c0001t0008g0026 a0001c0001t0009g0122 others(38): Show |
41 | 262 | 0.1565 | -9 | c.728 others(28): Show |
OLA1 | ENSG00000138430.16 | transcript | ENST00000284719.8 | protein_coding | 7/10 | chr2 | TogoVar | |||||||
OLFM1_chr9_135082668_135126180 | 135124558 | AGGGGCAG others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01361.hp1 HG01952.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0004g0008 a0001c0001t0006g0012 a0001c0001t0008g0308 others(2): Show |
5 | 360 | 0.0139 | -9 | c.*43 others(20): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3379 | chr9 | TogoVar | |||||||
OLFM2_chr19_9848718_9941515 | 9873796 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01070.hp1 others(68): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(1): Show | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0035 others(68): Show |
71 | 342 | 0.2076 | -9 | c.64- others(26): Show |
OLFM2 | ENSG00000105088.9 | transcript | ENST00000264833.9 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
OLFM3_chr1_101797560_102001926 | 101824643 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00438.hp2 others(88): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0059 others(88): Show |
91 | 306 | 0.2974 | -9 | c.592 others(24): Show |
OLFM3 | ENSG00000118733.17 | transcript | ENST00000370103.9 | protein_coding | 4/5 | chr1 | TogoVar | |||||||
OLFML2B_chr1_161978192_162028869 | 162005902 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02895.hp2 others(5): Show |
a0001a0002a0015others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0004a0001c0002t0001a0002c0003t0001others(4): Show | a0001c0001t0004g0070 a0001c0002t0001g0084 a0002c0003t0001g0068 others(4): Show |
8 | 384 | 0.0208 | -9 | c.723 others(24): Show |
OLFML2B | ENSG00000162745.11 | transcript | ENST00000294794.8 | protein_coding | 4/7 | chr1 | TogoVar | |||||||
OLIG1_chr21_33065141_33077413 | 33070402 | CTCCTCCA others(2): Show |
C | conservative_inframe_deletion | MODERATE | HG00741.hp2 HG02258.hp2 HG02300.hp2 others(7): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0000 | 10 | 454 | 0.0220 | -9 | c.163 others(16): Show |
p.Thr others(11): Show |
OLIG1 | ENSG00000184221.13 | transcript | ENST00000382348.2 | protein_coding | 1/1 | 269/2273 | 163/816 | 55/271 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||
OMA1_chr1_58475719_58551726 | 58518627 | TTTATCTA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(114): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0012a0002c0003others(5): Show | a0001c0002t0002a0001c0012t0002a0002c0003t0001others(8): Show | a0001c0002t0002g0011 a0001c0002t0002g0078 a0001c0002t0002g0079 others(110): Show |
117 | 384 | 0.3047 | -9 | c.121 others(28): Show |
OMA1 | ENSG00000162600.12 | transcript | ENST00000371226.8 | protein_coding | 7/8 | chr1 | TogoVar | |||||||
OMA1_chr1_58475719_58551726 | 58541293 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00642.hp2 others(33): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0004a0005c0006others(1): Show | a0001c0001t0001a0003c0004t0001a0005c0006t0001others(1): Show | a0001c0001t0001g0118 a0001c0001t0001g0138 a0001c0001t0001g0157 others(32): Show |
36 | 384 | 0.0938 | -9 | c.-16 others(26): Show |
OMA1 | ENSG00000162600.12 | transcript | ENST00000371226.8 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
ONECUT2_chr18_57430374_57496298 | 57442101 | GGGACACC others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00673.hp1 others(58): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(31): Show | a0001c0001t0001g0007 a0001c0003t0001g0046 a0001c0003t0001g0047 others(54): Show |
61 | 400 | 0.1525 | -9 | c.122 others(28): Show |
ONECUT2 | ENSG00000119547.6 | transcript | ENST00000491143.3 | protein_coding | 1/1 | chr18 | TogoVar | |||||||
ONECUT3_chr19_1748506_1785988 | 1768998 | ATGGTGGA others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG03239.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0033a0001c0001t0036a0001c0001t0082others(5): Show | a0001c0001t0033g0176 a0001c0001t0036g0235 a0001c0001t0082g0079 others(5): Show |
8 | 370 | 0.0216 | -9 | c.119 others(28): Show |
ONECUT3 | ENSG00000205922.5 | transcript | ENST00000382349.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
OPA1_chr3_193588208_193702811 | 193658246 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02451.hp2 HG02559.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0002c0002t0009others(1): Show | a0001c0001t0002g0273 a0001c0001t0003g0062 a0001c0001t0003g0063 others(8): Show |
11 | 388 | 0.0284 | -9 | c.233 others(26): Show |
OPA1 | ENSG00000198836.11 | transcript | ENST00000361510.8 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
OPA1_chr3_193588208_193702811 | 193675327 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 NA18940.hp2 others(5): Show |
a0004 | a0004c0006 | a0004c0006t0008a0004c0006t0023 | a0004c0006t0008g0369 a0004c0006t0008g0370 a0004c0006t0008g0371 others(5): Show |
8 | 388 | 0.0206 | -9 | c.298 others(28): Show |
OPA1 | ENSG00000198836.11 | transcript | ENST00000361510.8 | protein_coding | 29/30 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |