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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SDC2_chr8_96488813_96616790 | 96576374 | G | GTTTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0059 a0001c0001t0001g0236 a0001c0001t0001g0239 others(19): Show |
22 | 210 | 0.1048 | 7 | c.61- others(24): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SDC2_chr8_96488813_96616790 | 96576416 | C | CTTTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG00741.hp2 others(39): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(9): Show | a0001c0001t0001g0050 a0001c0001t0001g0138 a0001c0001t0001g0149 others(38): Show |
42 | 102 | 0.4118 | 7 | c.61- others(24): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SDC3_chr1_30864466_30913758 | 30908601 | C | CGTGGGCG | 5_prime_UTR_variant | MODIFIER | HG02109.hp1 HG02622.hp2 HG02922.hp2 others(2): Show |
a0001a0007 | a0001c0001a0007c0013 | a0001c0001t0015a0001c0001t0032a0001c0001t0033others(1): Show | a0001c0001t0015g0021 a0001c0001t0015g0023 a0001c0001t0032g0024 others(2): Show |
5 | 380 | 0.0132 | 7 | c.-16 others(14): Show |
SDC3 | ENSG00000162512.16 | transcript | ENST00000339394.7 | protein_coding | 1/5 | 16 | chr1 | TogoVar | ||||||
SDCCAG8_chr1_243251041_243505091 | 243266776 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(58): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(4): Show | a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0029 others(58): Show |
61 | 119 | 0.5126 | 7 | c.68- others(22): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDCCAG8_chr1_243251041_243505091 | 243266785 | A | AAAAAAAG | intron_variant | MODIFIER | HG01261.hp2 HG02280.hp2 HG02486.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 others(8): Show |
11 | 188 | 0.0585 | 7 | c.68- others(22): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDCCAG8_chr1_243251041_243505091 | 243353490 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG01071.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0045 a0001c0001t0002g0097 a0001c0002t0001g0117 others(15): Show |
18 | 32 | 0.5625 | 7 | c.147 others(26): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDCCAG8_chr1_243251041_243505091 | 243478956 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG01081.hp2 HG01167.hp1 others(24): Show |
a0001a0002a0006 | a0001c0001a0002c0003a0006c0010 | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(24): Show |
27 | 64 | 0.4219 | 7 | c.198 others(28): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDF2_chr17_28643346_28666906 | 28663828 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02451.hp1 HG02615.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0002g0140 others(2): Show |
6 | 8 | 0.7500 | 7 | c.-19 others(18): Show |
SDF2 | ENSG00000132581.10 | transcript | ENST00000247020.9 | protein_coding | 1923 | chr17 | TogoVar | |||||||
SDHAF1_chr19_35990188_36001312 | 35990811 | G | GAGGAGGA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp2 others(162): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0006g0000 others(1): Show |
165 | 389 | 0.4242 | 7 | c.-44 others(18): Show |
SDHAF1 | ENSG00000205138.4 | transcript | ENST00000378887.4 | protein_coding | 4376 | chr19 | TogoVar | |||||||
SDHAF3_chr7_97112698_97186763 | 97136104 | T | TGTATTTG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(206): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(194): Show |
209 | 400 | 0.5225 | 7 | c.174 others(26): Show |
SDHAF3 | ENSG00000196636.8 | transcript | ENST00000432641.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDHAF4_chr6_70561930_70594569 | 70565183 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG01433.hp2 others(33): Show |
a0002 | a0002c0002a0002c0003a0002c0004 | a0002c0002t0003a0002c0002t0004a0002c0002t0008others(4): Show | a0002c0002t0003g0005 a0002c0002t0003g0006 a0002c0002t0003g0055 others(25): Show |
36 | 216 | 0.1667 | 7 | c.-17 others(18): Show |
SDHAF4 | ENSG00000154079.6 | transcript | ENST00000370474.4 | protein_coding | 1746 | chr6 | TogoVar | |||||||
SDHAF4_chr6_70561930_70594569 | 70573264 | C | CTTTTTTT | intron_variant | MODIFIER | HG01074.hp1 HG01346.hp2 HG02280.hp2 others(22): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0026others(4): Show | a0001c0001t0001g0111 a0001c0001t0001g0255 a0001c0001t0002g0010 others(16): Show |
25 | 240 | 0.1042 | 7 | c.65- others(22): Show |
SDHAF4 | ENSG00000154079.6 | transcript | ENST00000370474.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 220815 | A | ATTTTTTT | intron_variant | MODIFIER | HG01081.hp2 HG02280.hp2 HG02647.hp2 others(3): Show |
a0002a0005 | a0002c0003a0005c0005 | a0002c0003t0003a0005c0005t0003a0005c0005t0005 | a0002c0003t0003g0102 a0002c0003t0003g0103 a0005c0005t0003g0105 others(3): Show |
6 | 254 | 0.0236 | 7 | c.63+ others(22): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SDHB_chr1_17013722_17059032 | 17015989 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00735.hp1 HG02129.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 others(15): Show |
19 | 39 | 0.4872 | 7 | c.*28 others(18): Show |
SDHB | ENSG00000117118.11 | transcript | ENST00000375499.8 | protein_coding | 2732 | chr1 | TogoVar | |||||||
SDHB_chr1_17013722_17059032 | 17049647 | C | CTTTTTTT | intron_variant | MODIFIER | HG01070.hp1 HG01109.hp2 HG01243.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0001g0050 others(7): Show |
12 | 110 | 0.1091 | 7 | c.72+ others(22): Show |
SDHB | ENSG00000117118.11 | transcript | ENST00000375499.8 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
SDHC_chr1_161309381_161368206 | 161320828 | A | ATTTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00735.hp1 HG01081.hp1 others(48): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(44): Show |
51 | 194 | 0.2629 | 7 | c.21- others(22): Show |
SDHC | ENSG00000143252.16 | transcript | ENST00000367975.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDHC_chr1_161309381_161368206 | 161339662 | G | GTTTTTTT | intron_variant | MODIFIER | HG00673.hp1 HG00741.hp1 HG02738.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0101 a0001c0001t0001g0161 others(4): Show |
9 | 64 | 0.1406 | 7 | c.180 others(22): Show |
SDHC | ENSG00000143252.16 | transcript | ENST00000367975.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3309524 | A | ATTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00639.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0005a0001c0007a0001c0039others(6): Show | a0001c0005t0051a0001c0007t0003a0001c0039t0050others(7): Show | a0001c0005t0051g0030 a0001c0007t0003g0032 a0001c0039t0050g0022 others(7): Show |
10 | 23 | 0.4348 | 7 | c.298 others(24): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3403832 | T | TATATATA | intron_variant | MODIFIER | HG01109.hp2 HG02630.hp1 HG02738.hp1 others(2): Show |
a0014a0020a0023others(2): Show | a0014c0085a0020c0063a0023c0083others(2): Show | a0014c0085t0043a0020c0063t0007a0023c0083t0044others(2): Show | a0014c0085t0043g0010 a0020c0063t0007g0106 a0023c0083t0044g0004 others(2): Show |
5 | 116 | 0.0431 | 7 | c.298 others(28): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3418145 | G | GCAAAAAA | intron_variant | MODIFIER | HG01361.hp2 HG01891.hp2 HG02145.hp1 others(4): Show |
a0001a0005a0023others(2): Show | a0001c0002a0001c0036a0001c0049others(4): Show | a0001c0002t0040a0001c0036t0033a0001c0049t0036others(4): Show | a0001c0002t0040g0084 a0001c0036t0033g0116 a0001c0049t0036g0109 others(4): Show |
7 | 16 | 0.4375 | 7 | c.298 others(28): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | chr7 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3485683 | G | GTTTTTTT | intron_variant | MODIFIER | HG02630.hp1 HG02647.hp2 HG02809.hp2 others(3): Show |
a0001a0020a0021 | a0001c0011a0001c0048a0001c0067others(3): Show | a0001c0011t0008a0001c0048t0001a0001c0067t0068others(3): Show | a0001c0011t0008g0028 a0001c0048t0001g0029 a0001c0067t0068g0001 others(3): Show |
6 | 18 | 0.3333 | 7 | c.299 others(28): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3605138 | A | AGAAACAC | intron_variant | MODIFIER | HG01167.hp1 HG03139.hp2 HG03516.hp2 |
a0009a0028 | a0009c0019a0009c0020a0028c0018 | a0009c0019t0074a0009c0020t0070a0028c0018t0071 | a0009c0019t0074g0006 a0009c0020t0070g0009 a0028c0018t0071g0005 |
3 | 115 | 0.0261 | 7 | c.299 others(26): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | chr7 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3945899 | T | TAAAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG01099.hp1 HG01123.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0010a0001c0032others(5): Show | a0001c0002t0002a0001c0010t0002a0001c0032t0058others(5): Show | a0001c0002t0002g0096 a0001c0010t0002g0085 a0001c0032t0058g0043 others(5): Show |
8 | 11 | 0.7273 | 7 | c.848 others(24): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 5/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3954382 | A | ACACCCTC | intron_variant | MODIFIER | HG01978.hp2 NA20752.hp2 |
a0002a0006 | a0002c0042a0006c0016 | a0002c0042t0002a0006c0016t0001 | a0002c0042t0002g0105 a0006c0016t0001g0114 |
2 | 115 | 0.0174 | 7 | c.115 others(26): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 7/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4162416 | T | TATTATTA | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG04228.hp1 |
a0001a0002a0004 | a0001c0004a0002c0053a0004c0003 | a0001c0004t0005a0002c0053t0067a0004c0003t0003 | a0001c0004t0005g0102 a0002c0053t0067g0034 a0004c0003t0003g0070 |
3 | 116 | 0.0259 | 7 | c.480 others(24): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 32/44 | chr7 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73388973 | T | TCCCCTTC | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00738.hp2 others(29): Show |
a0001a0004a0005others(9): Show | a0001c0005a0001c0008a0001c0010others(21): Show | a0001c0005t0048a0001c0005t0050a0001c0008t0004others(28): Show | a0001c0005t0048g0146 a0001c0005t0050g0032 a0001c0008t0004g0051 others(29): Show |
32 | 33 | 0.9697 | 7 | c.419 others(24): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 29/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73416199 | A | ATTTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00639.hp1 others(40): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(22): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0015others(35): Show | a0001c0001t0001g0013 a0001c0001t0001g0130 a0001c0001t0001g0190 others(40): Show |
43 | 47 | 0.9149 | 7 | c.218 others(24): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 16/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73433127 | G | GTCTAGTC | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00544.hp2 others(39): Show |
a0001a0002a0004others(6): Show | a0001c0002a0001c0003a0001c0005others(28): Show | a0001c0002t0010a0001c0002t0041a0001c0003t0051others(38): Show | a0001c0002t0010g0184 a0001c0002t0041g0022 a0001c0003t0051g0047 others(39): Show |
42 | 202 | 0.2079 | 7 | c.131 others(24): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 10/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73457309 | C | CCCCTCCT | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp1 HG00738.hp2 others(53): Show |
a0001a0002a0004others(10): Show | a0001c0001a0001c0002a0001c0003others(40): Show | a0001c0001t0009a0001c0001t0015a0001c0002t0010others(52): Show | a0001c0001t0009g0141 a0001c0001t0015g0073 a0001c0002t0010g0184 others(53): Show |
56 | 107 | 0.5234 | 7 | c.332 others(24): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 3/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73588623 | A | ACTGGCAT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00544.hp2 others(55): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0003a0001c0005others(42): Show | a0001c0002t0001a0001c0002t0010a0001c0002t0041others(55): Show | a0001c0002t0001g0139 a0001c0002t0010g0184 a0001c0002t0041g0022 others(55): Show |
58 | 202 | 0.2871 | 7 | c.64+ others(24): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 1/44 | chr17 | TogoVar | |||||||
SEC11A_chr15_84664544_84721139 | 84666936 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(39): Show |
46 | 84 | 0.5476 | 7 | c.*30 others(18): Show |
SEC11A | ENSG00000140612.14 | transcript | ENST00000268220.12 | protein_coding | 2607 | chr15 | TogoVar | |||||||
SEC11A_chr15_84664544_84721139 | 84695675 | C | CATTTTCT | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(41): Show |
50 | 318 | 0.1572 | 7 | c.52- others(22): Show |
SEC11A | ENSG00000140612.14 | transcript | ENST00000268220.12 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
SEC14L4_chr22_30483902_30510695 | 30500754 | A | ATTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00639.hp2 others(24): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0003a0002c0002t0002others(1): Show | a0001c0001t0001g0031 a0001c0001t0001g0077 a0001c0001t0001g0095 others(16): Show |
27 | 219 | 0.1233 | 7 | c.130 others(24): Show |
SEC14L4 | ENSG00000133488.15 | transcript | ENST00000255858.12 | protein_coding | 2/11 | chr22 | TogoVar | |||||||
SEC14L5_chr16_4953330_5024157 | 4977473 | A | AAAAAAAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(233): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0066 others(233): Show |
236 | 240 | 0.9833 | 7 | c.64- others(24): Show |
SEC14L5 | ENSG00000103184.12 | transcript | ENST00000251170.12 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SEC14L6_chr22_30517799_30551741 | 30521833 | C | CTTTCTCT | downstream_gene_variant | MODIFIER | HG01099.hp2 HG02257.hp1 HG02280.hp1 others(9): Show |
a0001a0005 | a0001c0008a0005c0011 | a0001c0008t0005a0001c0008t0032a0005c0011t0006 | a0001c0008t0005g0008 a0001c0008t0005g0023 a0001c0008t0005g0088 others(5): Show |
12 | 288 | 0.0417 | 7 | c.*31 others(18): Show |
SEC14L6 | ENSG00000214491.9 | transcript | ENST00000402034.7 | protein_coding | 965 | chr22 | TogoVar | |||||||
SEC22A_chr3_123196943_123279136 | 123214029 | A | AAAAAAAT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp1 others(59): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014a0001c0001t0020others(1): Show | a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0004 others(56): Show |
62 | 338 | 0.1834 | 7 | c.182 others(24): Show |
SEC22A | ENSG00000121542.12 | transcript | ENST00000492595.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SEC23A_chr14_39026919_39108235 | 39059278 | T | TAAAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00733.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0003g0354 others(25): Show |
28 | 138 | 0.2029 | 7 | c.150 others(26): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 13/19 | chr14 | TogoVar | |||||||
SEC23B_chr20_18502940_18566415 | 18518582 | G | GTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00673.hp2 others(29): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0006 | a0001c0001t0001a0002c0002t0001a0004c0006t0001 | a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0073 others(25): Show |
32 | 98 | 0.3265 | 7 | c.366 others(24): Show |
SEC23B | ENSG00000101310.17 | transcript | ENST00000650089.1 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SEC24C_chr10_73739372_73777161 | 73745548 | C | CTTTATTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(88): Show |
a0001a0003a0010others(1): Show | a0001c0001a0001c0012a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0012t0001others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 others(68): Show |
91 | 320 | 0.2844 | 7 | c.-29 others(24): Show |
SEC24C | ENSG00000176986.16 | transcript | ENST00000345254.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SEC31A_chr4_82813509_82896153 | 82828673 | C | CAAAAAAA | intron_variant | MODIFIER | HG01175.hp1 HG04115.hp1 NA18906.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0058 a0001c0001t0001g0068 others(5): Show |
8 | 15 | 0.5333 | 7 | c.302 others(24): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 23/26 | chr4 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82837199 | A | ATATATAT | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG00673.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0142 others(16): Show |
19 | 207 | 0.0918 | 7 | c.296 others(26): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 22/26 | chr4 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82877698 | A | ATTTCTTT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(218): Show |
a0001a0003a0005others(4): Show | a0001c0001a0001c0002a0001c0007others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0001others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(215): Show |
221 | 326 | 0.6779 | 7 | c.402 others(24): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 4/26 | chr4 | TogoVar | |||||||
SEC61A1_chr3_128047437_128076683 | 128074842 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00280.hp1 HG01255.hp2 HG01934.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0043 others(4): Show |
10 | 182 | 0.0549 | 7 | c.*51 others(18): Show |
SEC61A1 | ENSG00000058262.11 | transcript | ENST00000243253.8 | protein_coding | 3160 | chr3 | TogoVar | |||||||
SEC61A2_chr10_12124677_12170407 | 12127557 | G | GACACCCC | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG01081.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0007 others(11): Show |
16 | 95 | 0.1684 | 7 | c.-22 others(18): Show |
SEC61A2 | ENSG00000065665.21 | transcript | ENST00000298428.14 | protein_coding | 2119 | chr10 | TogoVar | |||||||
SEC61B_chr9_99217282_99235615 | 99220674 | A | AAAGAAGT | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01256.hp1 others(15): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0054 others(9): Show |
18 | 348 | 0.0517 | 7 | c.-16 others(18): Show |
SEC61B | ENSG00000106803.10 | transcript | ENST00000223641.5 | protein_coding | 1607 | chr9 | TogoVar | |||||||
SECISBP2L_chr15_48983638_49051446 | 49034669 | G | GTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(118): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(7): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0010others(22): Show | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 others(104): Show |
121 | 287 | 0.4216 | 7 | c.528 others(22): Show |
SECISBP2L | ENSG00000138593.9 | transcript | ENST00000559471.6 | protein_coding | 3/17 | chr15 | TogoVar | |||||||
SECISBP2_chr9_89313500_89364663 | 89336081 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(19): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0013a0005c0006t0001 | a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0029 others(12): Show |
22 | 161 | 0.1366 | 7 | c.108 others(26): Show |
SECISBP2 | ENSG00000187742.15 | transcript | ENST00000375807.8 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SEH1L_chr18_12943011_12992531 | 12949442 | G | GTTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00673.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 others(28): Show |
31 | 89 | 0.3483 | 7 | c.111 others(24): Show |
SEH1L | ENSG00000085415.16 | transcript | ENST00000399892.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SEH1L_chr18_12943011_12992531 | 12962459 | C | CTTTTTTT | intron_variant | MODIFIER | HG02055.hp1 HG02818.hp1 HG02895.hp1 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0001 | a0001c0001t0001g0105 a0001c0001t0003g0008 a0001c0001t0003g0327 others(5): Show |
9 | 109 | 0.0826 | 7 | c.310 others(22): Show |
SEH1L | ENSG00000085415.16 | transcript | ENST00000399892.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SEH1L_chr18_12943011_12992531 | 12971634 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(126): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 others(123): Show |
129 | 210 | 0.6143 | 7 | c.620 others(22): Show |
SEH1L | ENSG00000085415.16 | transcript | ENST00000399892.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |