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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SDHB_chr1_17013722_17059032 | 17047688 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 368 | 0.0027 | 11 | c.73- others(26): Show |
SDHB | ENSG00000117118.11 | transcript | ENST00000375499.8 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
SDHB_chr1_17013722_17059032 | 17049647 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02647.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0230 a0001c0002t0001g0309 |
2 | 368 | 0.0054 | 11 | c.72+ others(26): Show |
SDHB | ENSG00000117118.11 | transcript | ENST00000375499.8 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
SDHC_chr1_161309381_161368206 | 161309552 | A | ATTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 330 | 0.0030 | 11 | c.-48 others(22): Show |
SDHC | ENSG00000143252.16 | transcript | ENST00000367975.7 | protein_coding | 4828 | chr1 | TogoVar | |||||||
SDHC_chr1_161309381_161368206 | 161339662 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0237 | 1 | 330 | 0.0030 | 11 | c.180 others(26): Show |
SDHC | ENSG00000143252.16 | transcript | ENST00000367975.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3319878 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00735.hp2 HG01081.hp1 others(13): Show |
a0001a0002a0003others(3): Show | a0001c0017a0001c0088a0001c0089others(10): Show | a0001c0017t0011a0001c0088t0009a0001c0089t0009others(12): Show | a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0088t0009g0054 others(13): Show |
16 | 116 | 0.1379 | 11 | c.298 others(30): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3346827 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0091 | a0002c0091t0010 | a0002c0091t0010g0047 | 1 | 116 | 0.0086 | 11 | c.298 others(30): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3346827 | A | ATATATTT others(4): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01934.hp2 HG02735.hp1 others(1): Show |
a0002a0003a0005others(1): Show | a0002c0009a0003c0003a0005c0057others(1): Show | a0002c0009t0056a0003c0003t0003a0005c0057t0006others(1): Show | a0002c0009t0056g0044 a0003c0003t0003g0069 a0005c0057t0006g0098 others(1): Show |
4 | 116 | 0.0345 | 11 | c.298 others(30): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3346827 | A | ATATTTTT others(4): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0017 | a0017c0036 | a0017c0036t0005 | a0017c0036t0005g0058 | 1 | 116 | 0.0086 | 11 | c.298 others(30): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3418145 | G | GCAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02922.hp2 |
a0001 | a0001c0017 | a0001c0017t0011 | a0001c0017t0011g0051 a0001c0017t0011g0052 |
2 | 116 | 0.0172 | 11 | c.298 others(32): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | chr7 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3435321 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG01243.hp2 others(1): Show |
a0001a0009a0015others(1): Show | a0001c0008a0009c0019a0015c0075others(1): Show | a0001c0008t0007a0009c0019t0074a0015c0075t0042others(1): Show | a0001c0008t0007g0067 a0009c0019t0074g0009 a0015c0075t0042g0081 others(1): Show |
4 | 116 | 0.0345 | 11 | c.298 others(32): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3573902 | G | GTTTTGTG others(4): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02622.hp1 HG02717.hp2 others(3): Show |
a0001a0024 | a0001c0017a0001c0088a0001c0094others(2): Show | a0001c0017t0011a0001c0088t0009a0001c0094t0006others(2): Show | a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0088t0009g0054 others(3): Show |
6 | 116 | 0.0517 | 11 | c.299 others(30): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3580984 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0038 | a0001c0038t0002 | a0001c0038t0002g0077 | 1 | 116 | 0.0086 | 11 | c.299 others(30): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3644773 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0036 | a0036c0053 | a0036c0053t0032 | a0036c0053t0032g0107 | 1 | 116 | 0.0086 | 11 | c.713 others(28): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 4/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3644787 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01934.hp2 HG01978.hp2 others(15): Show |
a0001a0002a0004others(3): Show | a0001c0002a0001c0004a0001c0008others(14): Show | a0001c0002t0004a0001c0004t0005a0001c0008t0007others(14): Show | a0001c0002t0004g0104 a0001c0004t0005g0102 a0001c0008t0007g0067 others(15): Show |
18 | 116 | 0.1552 | 11 | c.713 others(28): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 4/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3672795 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02717.hp1 NA20129.hp2 |
a0002a0037 | a0002c0013a0037c0074 | a0002c0013t0064a0037c0074t0001 | a0002c0013t0064g0026 a0037c0074t0001g0015 |
2 | 116 | 0.0172 | 11 | c.713 others(30): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 4/44 | chr7 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3938645 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0014 | a0014c0086 | a0014c0086t0043 | a0014c0086t0043g0010 | 1 | 116 | 0.0086 | 11 | c.848 others(30): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 5/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4029228 | T | TTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01891.hp2 HG01934.hp2 others(16): Show |
a0001a0002a0005others(3): Show | a0001c0002a0001c0008a0001c0010others(16): Show | a0001c0002t0040a0001c0008t0007a0001c0010t0060others(16): Show | a0001c0002t0040g0084 a0001c0008t0007g0067 a0001c0010t0060g0017 others(16): Show |
19 | 116 | 0.1638 | 11 | c.260 others(32): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 17/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4029228 | T | TTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0011 | a0011c0022 | a0011c0022t0072 | a0011c0022t0072g0007 | 1 | 116 | 0.0086 | 11 | c.260 others(32): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 17/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4063599 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01891.hp2 HG01934.hp2 others(9): Show |
a0001a0005a0012 | a0001c0008a0001c0010a0001c0089others(8): Show | a0001c0008t0007a0001c0010t0060a0001c0089t0009others(8): Show | a0001c0008t0007g0067 a0001c0010t0060g0017 a0001c0089t0009g0048 others(9): Show |
12 | 116 | 0.1035 | 11 | c.291 others(30): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 19/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4074912 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0062 | a0001c0062t0031 | a0001c0062t0031g0100 | 1 | 116 | 0.0086 | 11 | c.301 others(30): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 20/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4091334 | C | CTTTTCTT others(4): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0017 | a0001c0017t0011 | a0001c0017t0011g0052 | 1 | 116 | 0.0086 | 11 | c.332 others(32): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 22/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4091335 | T | TTTTCTTT others(4): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00738.hp1 HG01081.hp2 others(24): Show |
a0001a0002a0009others(9): Show | a0001c0008a0001c0010a0001c0011others(22): Show | a0001c0008t0007a0001c0010t0060a0001c0011t0008others(23): Show | a0001c0008t0007g0067 a0001c0010t0060g0017 a0001c0011t0008g0028 others(24): Show |
27 | 116 | 0.2328 | 11 | c.332 others(32): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 22/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4192276 | T | TTTGTTTG others(4): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02976.hp1 HG03041.hp1 others(1): Show |
a0001a0016a0027 | a0001c0038a0001c0072a0016c0046others(1): Show | a0001c0038t0002a0001c0072t0057a0016c0046t0015others(1): Show | a0001c0038t0002g0077 a0001c0072t0057g0031 a0016c0046t0015g0046 others(1): Show |
4 | 116 | 0.0345 | 11 | c.509 others(32): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 35/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73375874 | A | ATAAAATA others(4): Show |
intron_variant | MODIFIER | HG02165.hp2 HG02683.hp2 HG02698.hp2 others(7): Show |
a0001a0002a0026others(1): Show | a0001c0001a0001c0005a0001c0009others(7): Show | a0001c0001t0015a0001c0005t0078a0001c0009t0006others(7): Show | a0001c0001t0015g0072 a0001c0005t0078g0100 a0001c0009t0006g0053 others(7): Show |
10 | 204 | 0.0490 | 11 | c.498 others(30): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 36/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73416199 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01175.hp2 HG03486.hp2 |
a0001a0002 | a0001c0017a0002c0031 | a0001c0017t0008a0002c0031t0006 | a0001c0017t0008g0156 a0002c0031t0006g0157 |
2 | 204 | 0.0098 | 11 | c.218 others(28): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 16/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73426208 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01175.hp2 HG02300.hp2 others(4): Show |
a0001a0002a0009 | a0001c0004a0002c0020a0002c0028others(3): Show | a0001c0004t0010a0002c0020t0026a0002c0028t0062others(3): Show | a0001c0004t0010g0021 a0002c0020t0026g0107 a0002c0028t0062g0024 others(4): Show |
7 | 204 | 0.0343 | 11 | c.158 others(30): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 12/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73509902 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0051 | a0001c0051t0007 | a0001c0051t0007g0056 | 1 | 204 | 0.0049 | 11 | c.65- others(26): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 1/44 | chr17 | TogoVar | |||||||
SDSL_chr12_113417380_113443276 | 113421991 | C | CAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG01943.hp2 HG02109.hp2 others(15): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0010others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(2): Show | a0001c0001t0001g0012 a0001c0001t0001g0037 a0001c0001t0001g0038 others(14): Show |
18 | 298 | 0.0604 | 11 | c.-50 others(20): Show |
SDSL | ENSG00000139410.15 | transcript | ENST00000403593.9 | protein_coding | 388 | chr12 | TogoVar | |||||||
SDSL_chr12_113417380_113443276 | 113432265 | T | TTTCTTTT others(4): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 298 | 0.0034 | 11 | c.355 others(28): Show |
SDSL | ENSG00000139410.15 | transcript | ENST00000403593.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SDS_chr12_113387445_113408887 | 113396486 | T | TCTCTTTC others(4): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01243.hp1 HG01361.hp1 others(46): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0018 others(27): Show |
49 | 344 | 0.1424 | 11 | c.653 others(26): Show |
SDS | ENSG00000135094.11 | transcript | ENST00000257549.9 | protein_coding | 6/7 | chr12 | TogoVar | |||||||
SDS_chr12_113387445_113408887 | 113408396 | C | CTTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0059 | 1 | 344 | 0.0029 | 11 | c.-46 others(22): Show |
SDS | ENSG00000135094.11 | transcript | ENST00000257549.9 | protein_coding | 4510 | chr12 | TogoVar | |||||||
SEC11A_chr15_84664544_84721139 | 84692951 | T | TCCTCCCA others(4): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 320 | 0.0031 | 11 | c.52- others(26): Show |
SEC11A | ENSG00000140612.14 | transcript | ENST00000268220.12 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
SEC11A_chr15_84664544_84721139 | 84700593 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 320 | 0.0031 | 11 | c.52- others(26): Show |
SEC11A | ENSG00000140612.14 | transcript | ENST00000268220.12 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
SEC11C_chr18_59134884_59163832 | 59143857 | T | TTTTCTTT others(4): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 444 | 0.0023 | 11 | c.87+ others(26): Show |
SEC11C | ENSG00000166562.9 | transcript | ENST00000587834.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SEC14L2_chr22_30392018_30430303 | 30411742 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00544.hp1 others(123): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(14): Show | a0001c0001t0001g0005 a0001c0001t0001g0050 a0001c0001t0001g0143 others(102): Show |
126 | 420 | 0.3000 | 11 | c.664 others(28): Show |
SEC14L2 | ENSG00000100003.18 | transcript | ENST00000615189.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEC14L2_chr22_30392018_30430303 | 30416763 | G | GCTGGTGG others(4): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0085 | 1 | 420 | 0.0024 | 11 | c.108 others(28): Show |
SEC14L2 | ENSG00000100003.18 | transcript | ENST00000615189.5 | protein_coding | 11/11 | chr22 | TogoVar | |||||||
SEC14L4_chr22_30483902_30510695 | 30500754 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0009 | a0001c0009t0005 | a0001c0009t0005g0134 | 1 | 424 | 0.0024 | 11 | c.130 others(28): Show |
SEC14L4 | ENSG00000133488.15 | transcript | ENST00000255858.12 | protein_coding | 2/11 | chr22 | TogoVar | |||||||
SEC14L5_chr16_4953330_5024157 | 4968915 | A | AATTTAGC others(4): Show |
intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 376 | 0.0027 | 11 | c.63+ others(26): Show |
SEC14L5 | ENSG00000103184.12 | transcript | ENST00000251170.12 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SEC14L6_chr22_30517799_30551741 | 30528422 | C | CCTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01358.hp1 HG03516.hp1 others(4): Show |
a0001 | a0001c0003a0001c0014 | a0001c0003t0003a0001c0003t0014a0001c0003t0036others(1): Show | a0001c0003t0003g0163 a0001c0003t0003g0164 a0001c0003t0003g0165 others(4): Show |
7 | 396 | 0.0177 | 11 | c.664 others(26): Show |
SEC14L6 | ENSG00000214491.9 | transcript | ENST00000402034.7 | protein_coding | 8/11 | chr22 | TogoVar | |||||||
SEC14L6_chr22_30517799_30551741 | 30528422 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01168.hp1 HG02615.hp1 others(14): Show |
a0001a0003 | a0001c0001a0001c0008a0001c0016others(1): Show | a0001c0001t0004a0001c0008t0005a0001c0008t0032others(2): Show | a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0036 others(9): Show |
17 | 396 | 0.0429 | 11 | c.664 others(26): Show |
SEC14L6 | ENSG00000214491.9 | transcript | ENST00000402034.7 | protein_coding | 8/11 | chr22 | TogoVar | |||||||
SEC16A_chr9_136435105_136488040 | 136452449 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01069.hp1 HG01109.hp2 others(10): Show |
a0002a0022a0029 | a0002c0003a0002c0037a0022c0038others(1): Show | a0002c0003t0003a0002c0037t0003a0022c0038t0003others(1): Show | a0002c0003t0003g0026 a0002c0003t0003g0220 a0002c0003t0003g0221 others(9): Show |
13 | 306 | 0.0425 | 11 | c.615 others(28): Show |
SEC16A | ENSG00000148396.19 | transcript | ENST00000684901.1 | protein_coding | 22/31 | chr9 | TogoVar | |||||||
SEC16A_chr9_136435105_136488040 | 136452477 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0244 | 1 | 306 | 0.0033 | 11 | c.615 others(28): Show |
SEC16A | ENSG00000148396.19 | transcript | ENST00000684901.1 | protein_coding | 22/31 | chr9 | TogoVar | |||||||
SEC22A_chr3_123196943_123279136 | 123260131 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0199 a0001c0001t0005g0125 |
2 | 340 | 0.0059 | 11 | c.723 others(26): Show |
SEC22A | ENSG00000121542.12 | transcript | ENST00000492595.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SEC23A_chr14_39026919_39108235 | 39059278 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0081 | 1 | 366 | 0.0027 | 11 | c.150 others(30): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 13/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39081530 | A | ACAAATAC others(4): Show |
intron_variant | MODIFIER | NA18997.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0238 | 1 | 366 | 0.0027 | 11 | c.828 others(28): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 7/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39083563 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00621.hp1 HG01081.hp2 others(65): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(3): Show | a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0001t0001g0352 others(65): Show |
68 | 366 | 0.1858 | 11 | c.828 others(28): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 7/19 | chr14 | TogoVar | |||||||
SEC23B_chr20_18502940_18566415 | 18518582 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0007 | a0007c0009 | a0007c0009t0004 | a0007c0009t0004g0257 | 1 | 410 | 0.0024 | 11 | c.366 others(28): Show |
SEC23B | ENSG00000101310.17 | transcript | ENST00000650089.1 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SEC24A_chr5_134643785_134732909 | 134699301 | C | CGTTTTTT others(4): Show |
intron_variant | MODIFIER | NA19000.hp2 NA19004.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0006a0001c0007t0006 | a0001c0001t0006g0048 a0001c0007t0006g0051 |
2 | 318 | 0.0063 | 11 | c.226 others(30): Show |
SEC24A | ENSG00000113615.13 | transcript | ENST00000398844.7 | protein_coding | 15/22 | chr5 | TogoVar | |||||||
SEC24C_chr10_73739372_73777161 | 73758953 | T | TGGTAGAC others(4): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0096 | 1 | 322 | 0.0031 | 11 | c.309 others(26): Show |
SEC24C | ENSG00000176986.16 | transcript | ENST00000345254.9 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SEC24C_chr10_73739372_73777161 | 73763667 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18971.hp2 NA18987.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0226 |
3 | 322 | 0.0093 | 11 | c.109 others(26): Show |
SEC24C | ENSG00000176986.16 | transcript | ENST00000345254.9 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |