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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SDK1_chr7_3296252_4274000 | 4025016 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02809.hp2 HG03225.hp2 |
a0001a0022 | a0001c0011a0001c0025a0022c0050 | a0001c0011t0008a0001c0025t0024a0022c0050t0019 | a0001c0011t0008g0028 a0001c0025t0024g0088 a0022c0050t0019g0092 |
3 | 116 | 0.0259 | -12 | c.260 others(31): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 17/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4055550 | GTTGTTTT others(5): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00738.hp1 HG00738.hp2 others(41): Show |
a0001a0002a0009others(14): Show | a0001c0007a0001c0011a0001c0017others(37): Show | a0001c0007t0021a0001c0011t0008a0001c0011t0039others(39): Show | a0001c0007t0021g0110 a0001c0011t0008g0028 a0001c0011t0039g0061 others(41): Show |
44 | 116 | 0.3793 | -12 | c.291 others(31): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 19/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4065694 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0064 | a0001c0064t0006 | a0001c0064t0006g0111 | 1 | 116 | 0.0086 | -12 | c.291 others(31): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 19/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4083548 | CCCTCCCT others(5): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02647.hp1 HG02809.hp1 others(2): Show |
a0001a0002a0022 | a0001c0008a0001c0010a0001c0025others(2): Show | a0001c0008t0007a0001c0010t0060a0001c0025t0024others(2): Show | a0001c0008t0007g0067 a0001c0010t0060g0017 a0001c0025t0024g0088 others(2): Show |
5 | 116 | 0.0431 | -12 | c.332 others(31): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 22/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4101868 | GAGGGTCA others(5): Show |
G | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0092 | a0001c0092t0048 | a0001c0092t0048g0057 | 1 | 116 | 0.0086 | -12 | c.332 others(31): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 22/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4139515 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0040 | a0001c0002t0040g0084 | 1 | 116 | 0.0086 | -12 | c.422 others(31): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 28/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4157426 | GAAGGCAA others(5): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG02258.hp1 HG02451.hp1 others(5): Show |
a0001a0010a0017others(2): Show | a0001c0031a0001c0064a0001c0071others(5): Show | a0001c0031t0001a0001c0064t0006a0001c0071t0057others(5): Show | a0001c0031t0001g0018 a0001c0064t0006g0111 a0001c0071t0057g0031 others(5): Show |
8 | 116 | 0.0690 | -12 | c.462 others(31): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 30/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4162366 | GTTGTTAT others(5): Show |
G | intron_variant | MODIFIER | HG02630.hp2 HG02809.hp2 |
a0001a0002 | a0001c0011a0002c0013 | a0001c0011t0008a0002c0013t0015 | a0001c0011t0008g0028 a0002c0013t0015g0025 |
2 | 116 | 0.0172 | -12 | c.480 others(29): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 32/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4162369 | GTTATTAT others(5): Show |
G | intron_variant | MODIFIER | HG02630.hp1 | a0029 | a0029c0063 | a0029c0063t0007 | a0029c0063t0007g0106 | 1 | 116 | 0.0086 | -12 | c.480 others(29): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 32/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4193372 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02976.hp1 HG03041.hp1 others(1): Show |
a0001a0021a0034 | a0001c0037a0001c0071a0021c0045others(1): Show | a0001c0037t0002a0001c0071t0057a0021c0045t0015others(1): Show | a0001c0037t0002g0077 a0001c0071t0057g0031 a0021c0045t0015g0046 others(1): Show |
4 | 116 | 0.0345 | -12 | c.509 others(33): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 35/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73330545 | CTGTGTGT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00733.hp1 HG01243.hp2 others(9): Show |
a0001a0003a0004others(2): Show | a0001c0003a0001c0006a0001c0010others(8): Show | a0001c0003t0020a0001c0003t0051a0001c0006t0018others(9): Show | a0001c0003t0020g0155 a0001c0003t0051g0046 a0001c0006t0018g0109 others(9): Show |
12 | 204 | 0.0588 | -12 | c.*80 others(23): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 3838 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73382846 | AACAACAA others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00639.hp2 others(59): Show |
a0001a0002a0005others(8): Show | a0001c0001a0001c0002a0001c0003others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(52): Show | a0001c0001t0001g0013 a0001c0001t0001g0063 a0001c0001t0001g0128 others(59): Show |
62 | 204 | 0.3039 | -12 | c.470 others(31): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 33/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73393242 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01346.hp1 HG02258.hp1 others(12): Show |
a0001a0002a0004 | a0001c0005a0001c0010a0001c0033others(8): Show | a0001c0005t0024a0001c0010t0043a0001c0033t0052others(12): Show | a0001c0005t0024g0191 a0001c0010t0043g0069 a0001c0033t0052g0002 others(12): Show |
15 | 204 | 0.0735 | -12 | c.389 others(29): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 27/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73405467 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01884.hp1 HG02074.hp2 others(3): Show |
a0001a0002a0004 | a0001c0002a0001c0005a0001c0007others(3): Show | a0001c0002t0001a0001c0005t0017a0001c0007t0002others(3): Show | a0001c0002t0001g0112 a0001c0005t0017g0105 a0001c0007t0002g0043 others(3): Show |
6 | 204 | 0.0294 | -12 | c.248 others(31): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 18/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73426208 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03239.hp1 | a0003 | a0003c0045 | a0003c0045t0098 | a0003c0045t0098g0184 | 1 | 204 | 0.0049 | -12 | c.158 others(31): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 12/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73457222 | TCTTCCTT others(5): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG00733.hp1 HG01981.hp1 others(10): Show |
a0001a0008a0014others(1): Show | a0001c0002a0001c0004a0001c0005others(7): Show | a0001c0002t0004a0001c0002t0096a0001c0004t0019others(10): Show | a0001c0002t0004g0038 a0001c0002t0096g0123 a0001c0004t0019g0130 others(10): Show |
13 | 204 | 0.0637 | -12 | c.332 others(29): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 3/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73483525 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG03195.hp1 | a0004 | a0004c0080 | a0004c0080t0054 | a0004c0080t0054g0080 | 1 | 204 | 0.0049 | -12 | c.225 others(31): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 2/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73483625 | GTATATGT others(5): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02738.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0068a0001c0008t0005 | a0001c0001t0001g0013 a0001c0001t0068g0012 a0001c0008t0005g0134 |
3 | 204 | 0.0147 | -12 | c.225 others(31): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 2/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73483661 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG02074.hp2 HG02165.hp2 HG02300.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0078others(2): Show | a0001c0001t0001g0197 a0001c0002t0001g0112 a0001c0005t0078g0100 others(2): Show |
5 | 204 | 0.0245 | -12 | c.225 others(31): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 2/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73483671 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0005 | a0005c0012 | a0005c0012t0081 | a0005c0012t0081g0178 | 1 | 204 | 0.0049 | -12 | c.225 others(31): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 2/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73499859 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp1 others(28): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0005others(26): Show | a0001c0001t0001a0001c0004t0079a0001c0005t0024others(28): Show | a0001c0001t0001g0063 a0001c0004t0079g0140 a0001c0005t0024g0191 others(28): Show |
31 | 204 | 0.1520 | -12 | c.224 others(29): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 2/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73502079 | GCACATAC others(5): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG00738.hp2 HG01099.hp1 others(29): Show |
a0001a0002a0003others(7): Show | a0001c0003a0001c0005a0001c0008others(22): Show | a0001c0003t0011a0001c0003t0051a0001c0003t0090others(28): Show | a0001c0003t0011g0067 a0001c0003t0051g0046 a0001c0003t0090g0132 others(29): Show |
32 | 204 | 0.1569 | -12 | c.224 others(29): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 2/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73504257 | TGTGTGTG others(5): Show |
T | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0025 | a0001c0025t0016 | a0001c0025t0016g0055 | 1 | 204 | 0.0049 | -12 | c.224 others(29): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 2/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73518320 | TCTGTAAC others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00544.hp1 others(16): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(14): Show | a0001c0001t0025a0001c0004t0079a0001c0005t0078others(15): Show | a0001c0001t0025g0085 a0001c0004t0079g0140 a0001c0005t0078g0100 others(16): Show |
19 | 204 | 0.0931 | -12 | c.65- others(29): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 1/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73604152 | TTCCAGGT others(5): Show |
T | intron_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0029 | a0002c0029t0045 | a0002c0029t0045g0081 | 1 | 204 | 0.0049 | -12 | c.64+ others(29): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 1/44 | chr17 | TogoVar | |||||||
SDR16C5_chr8_56295005_56325175 | 56321314 | GCGTGCAT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 398 | 0.0025 | -12 | c.-12 others(23): Show |
SDR16C5 | ENSG00000170786.13 | transcript | ENST00000303749.8 | protein_coding | 1140 | chr8 | TogoVar | |||||||
SDR39U1_chr14_24434766_24447776 | 24443903 | ATTTTTTT others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp1 others(40): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0010 | a0001c0001t0001a0002c0002t0002a0005c0010t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0002c0002t0002g0004 others(1): Show |
43 | 462 | 0.0931 | -12 | c.-11 others(23): Show |
SDR39U1 | ENSG00000100445.18 | transcript | ENST00000399395.8 | protein_coding | 1128 | chr14 | TogoVar | |||||||
SDR39U1_chr14_24434766_24447776 | 24446610 | TAGGTGAT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(148): Show |
a0001a0004 | a0001c0001a0001c0007a0004c0006 | a0001c0001t0001a0001c0007t0001a0004c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0019 others(2): Show |
151 | 462 | 0.3268 | -12 | c.-38 others(23): Show |
SDR39U1 | ENSG00000100445.18 | transcript | ENST00000399395.8 | protein_coding | 3835 | chr14 | TogoVar | |||||||
SDSL_chr12_113417380_113443276 | 113430129 | TCCATCCA others(5): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp1 HG01071.hp1 others(36): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0007others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(4): Show | a0001c0001t0001g0012 a0001c0001t0001g0037 a0001c0001t0001g0038 others(35): Show |
39 | 298 | 0.1309 | -12 | c.354 others(27): Show |
SDSL | ENSG00000139410.15 | transcript | ENST00000403593.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SDSL_chr12_113417380_113443276 | 113432209 | CTTCTTTC others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00741.hp2 HG01069.hp2 others(75): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(38): Show |
78 | 298 | 0.2617 | -12 | c.355 others(29): Show |
SDSL | ENSG00000139410.15 | transcript | ENST00000403593.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SDSL_chr12_113417380_113443276 | 113432282 | TTCTTTCT others(5): Show |
T | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 298 | 0.0034 | -12 | c.355 others(29): Show |
SDSL | ENSG00000139410.15 | transcript | ENST00000403593.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SDS_chr12_113387445_113408887 | 113396544 | CCCTTCCT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01358.hp1 HG02602.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 6 | 344 | 0.0174 | -12 | c.653 others(27): Show |
SDS | ENSG00000135094.11 | transcript | ENST00000257549.9 | protein_coding | 6/7 | chr12 | TogoVar | |||||||
SEC11A_chr15_84664544_84721139 | 84683413 | AAACAAAC others(5): Show |
A | intron_variant | MODIFIER | HG02809.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 a0001c0001t0001g0176 |
2 | 320 | 0.0063 | -12 | c.312 others(29): Show |
SEC11A | ENSG00000140612.14 | transcript | ENST00000268220.12 | protein_coding | 3/5 | chr15 | TogoVar | |||||||
SEC11A_chr15_84664544_84721139 | 84700593 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG02886.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(1): Show |
4 | 320 | 0.0125 | -12 | c.52- others(27): Show |
SEC11A | ENSG00000140612.14 | transcript | ENST00000268220.12 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
SEC13_chr3_10295931_10326112 | 10321693 | AATCTATC others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG00642.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(14): Show |
26 | 380 | 0.0684 | -12 | c.-65 others(21): Show |
SEC13 | ENSG00000157020.18 | transcript | ENST00000350697.8 | protein_coding | 582 | chr3 | TogoVar | |||||||
SEC14L1_chr17_77135969_77222101 | 77145125 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 430 | 0.0023 | -12 | c.63+ others(27): Show |
SEC14L1 | ENSG00000129657.16 | transcript | ENST00000436233.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEC14L1_chr17_77135969_77222101 | 77158798 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0376 a0001c0002t0005g0388 |
2 | 430 | 0.0047 | -12 | c.63+ others(29): Show |
SEC14L1 | ENSG00000129657.16 | transcript | ENST00000436233.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEC14L1_chr17_77135969_77222101 | 77169007 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01192.hp1 NA18959.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0033 | a0001c0001t0001g0256 a0001c0001t0033g0280 |
2 | 430 | 0.0047 | -12 | c.64- others(29): Show |
SEC14L1 | ENSG00000129657.16 | transcript | ENST00000436233.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEC14L2_chr22_30392018_30430303 | 30401186 | GATTTATT others(5): Show |
G | intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0108 | 1 | 420 | 0.0024 | -12 | c.130 others(29): Show |
SEC14L2 | ENSG00000100003.18 | transcript | ENST00000615189.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEC14L5_chr16_4953330_5024157 | 4983877 | CAAATAAA others(5): Show |
C | intron_variant | MODIFIER | HG02723.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0116 a0001c0001t0017g0117 |
2 | 376 | 0.0053 | -12 | c.64- others(27): Show |
SEC14L5 | ENSG00000103184.12 | transcript | ENST00000251170.12 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SEC14L5_chr16_4953330_5024157 | 4992233 | TTCTTTTC others(5): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG02109.hp1 HG02572.hp1 others(5): Show |
a0001 | a0001c0004 | a0001c0004t0007a0001c0004t0012a0001c0004t0019 | a0001c0004t0007g0226 a0001c0004t0007g0227 a0001c0004t0007g0228 others(5): Show |
8 | 376 | 0.0213 | -12 | c.667 others(27): Show |
SEC14L5 | ENSG00000103184.12 | transcript | ENST00000251170.12 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SEC14L5_chr16_4953330_5024157 | 5010188 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0242 | 1 | 376 | 0.0027 | -12 | c.180 others(29): Show |
SEC14L5 | ENSG00000103184.12 | transcript | ENST00000251170.12 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SEC16A_chr9_136435105_136488040 | 136481129 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01515.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0204 | 1 | 306 | 0.0033 | -12 | c.-19 others(31): Show |
SEC16A | ENSG00000148396.19 | transcript | ENST00000684901.1 | protein_coding | 1/31 | chr9 | TogoVar | |||||||
SEC16B_chr1_177923788_177975058 | 177949383 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01109.hp1 NA21309.hp2 |
a0005a0031a0037 | a0005c0016a0031c0051a0037c0056 | a0005c0016t0002a0031c0051t0007a0037c0056t0016 | a0005c0016t0002g0246 a0031c0051t0007g0056 a0037c0056t0016g0115 |
3 | 408 | 0.0074 | -12 | c.154 others(31): Show |
SEC16B | ENSG00000120341.19 | transcript | ENST00000308284.11 | protein_coding | 12/25 | chr1 | TogoVar | |||||||
SEC22A_chr3_123196943_123279136 | 123260131 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02486.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0001t0006a0001c0005t0009 | a0001c0001t0004g0105 a0001c0001t0006g0101 a0001c0001t0006g0155 others(2): Show |
5 | 340 | 0.0147 | -12 | c.723 others(27): Show |
SEC22A | ENSG00000121542.12 | transcript | ENST00000492595.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SEC23A_chr14_39026919_39108235 | 39059299 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 366 | 0.0027 | -12 | c.150 others(31): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 13/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39077227 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA18973.hp1 NA18977.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0126 a0001c0001t0001g0130 |
3 | 366 | 0.0082 | -12 | c.829 others(29): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 7/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39085687 | TATACACA others(5): Show |
T | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 366 | 0.0027 | -12 | c.828 others(25): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 7/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39085689 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00609.hp2 others(47): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0009 a0001c0001t0001g0034 a0001c0001t0001g0255 others(46): Show |
50 | 366 | 0.1366 | -12 | c.828 others(25): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 7/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39094369 | TATATACA others(5): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01261.hp1 HG02145.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0244 a0001c0001t0002g0245 others(5): Show |
9 | 366 | 0.0246 | -12 | c.222 others(29): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 2/19 | chr14 | TogoVar |