regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SDC2_chr8_96488813_96616790 | 96565084 | A | ATTTTTTT others(25): Show |
intron_variant | MODIFIER | HG01496.hp2 NA19077.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0006 | a0001c0001t0002g0104a0002c0002t0006g0114 | 2 | 334 | 0.0060 | 32 | c.61- others(49): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SDC2_chr8_96488813_96616790 | 96565097 | T | TTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0130 | 1 | 334 | 0.0030 | 32 | c.61- others(49): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SDF2_chr17_28643346_28666906 | 28663828 | A | ATTTTTTT others(25): Show |
upstream_gene_variant | MODIFIER | HG01258.hp2 HG02723.hp1 HG03225.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0026a0001c0001t0001g0055a0001c0001t0001g0145others(2): Show | 5 | 398 | 0.0126 | 32 | c.-19 others(43): Show |
SDF2 | ENSG00000132581.10 | transcript | ENST00000247020.9 | protein_coding | 1923 | chr17 | TogoVar | ||||||
SDHAF3_chr7_97112698_97186763 | 97183901 | C | CTTTTTTT others(25): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 HG03516.hp2 HG04199.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0272a0001c0002t0001g0002a0001c0002t0001g0252 | 3 | 402 | 0.0075 | 32 | c.*26 others(43): Show |
SDHAF3 | ENSG00000196636.8 | transcript | ENST00000432641.3 | protein_coding | 2139 | chr7 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 256210 | C | CTGAGAAT others(25): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0160 | 1 | 266 | 0.0038 | 32 | c.190 others(48): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SDHA_chr5_213320_262082 | 257440 | G | GTGTGAGC others(25): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 | 1 | 266 | 0.0038 | 32 | c.*10 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 359 | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 258614 | G | GAGCATTA others(25): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(107): Show |
a0001a0005 | a0001c0001a0001c0009a0001c0010others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0002g0001a0001c0001t0002g0004a0001c0001t0002g0005others(74): Show | 110 | 266 | 0.4135 | 32 | c.*21 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 1533 | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 258639 | C | CCTGTCAC others(25): Show |
downstream_gene_variant | MODIFIER | HG01256.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 2 | 266 | 0.0075 | 32 | c.*22 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 1558 | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 259026 | G | GAGCATTA others(25): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0011 | 1 | 266 | 0.0038 | 32 | c.*26 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 1945 | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 259178 | T | TCCCGCCA others(25): Show |
downstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0173 | 1 | 266 | 0.0038 | 32 | c.*27 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 2097 | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 259282 | G | GAGCATTA others(25): Show |
downstream_gene_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0165 | 1 | 266 | 0.0038 | 32 | c.*28 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 2201 | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 259469 | T | TGTCACAG others(25): Show |
downstream_gene_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0002 | 1 | 266 | 0.0038 | 32 | c.*30 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 2388 | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 259761 | C | CGAGCATT others(25): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG02602.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0023 | 2 | 266 | 0.0075 | 32 | c.*33 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 2680 | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 259919 | T | TCAGAGCA others(25): Show |
downstream_gene_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009 | 1 | 266 | 0.0038 | 32 | c.*34 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 2838 | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 259950 | G | GTCAGAGC others(25): Show |
downstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 266 | 0.0038 | 32 | c.*35 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 2869 | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 260206 | T | TCAGAGCA others(25): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp2 others(79): Show |
a0001a0003a0006others(1): Show | a0001c0002a0001c0007a0003c0004others(2): Show | a0001c0002t0001a0001c0007t0001a0003c0004t0001others(2): Show | a0001c0002t0001g0002a0001c0002t0001g0003a0001c0002t0001g0009others(57): Show | 82 | 266 | 0.3083 | 32 | c.*37 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 3125 | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 260236 | C | CGGCAGAG others(25): Show |
downstream_gene_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014 | 1 | 266 | 0.0038 | 32 | c.*38 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 3155 | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 260809 | T | TCCCGTCA others(25): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG02056.hp2 HG02071.hp1 others(5): Show |
a0001a0007 | a0001c0002a0001c0007a0007c0013 | a0001c0002t0001a0001c0007t0001a0007c0013t0001 | a0001c0002t0001g0174a0001c0002t0001g0175a0001c0002t0001g0177others(5): Show | 8 | 266 | 0.0301 | 32 | c.*43 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 3728 | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 261102 | T | TCAGAGCA others(25): Show |
downstream_gene_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022 | 1 | 266 | 0.0038 | 32 | c.*46 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 4021 | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 261230 | T | TCAGAGCA others(25): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0126 | 1 | 266 | 0.0038 | 32 | c.*48 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 4149 | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 261293 | C | CGCAGAGC others(25): Show |
downstream_gene_variant | MODIFIER | HG02083.hp1 NA18968.hp2 NA18986.hp2 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0024a0003c0004t0001g0112a0003c0004t0001g0146 | 4 | 266 | 0.0150 | 32 | c.*48 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 4212 | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 261422 | T | TCAGAGCA others(25): Show |
downstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 266 | 0.0038 | 32 | c.*50 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 4341 | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 261521 | C | CAGCATTA others(25): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 266 | 0.0038 | 32 | c.*51 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 4440 | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 261585 | G | GAGCATTA others(25): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0113 | 1 | 266 | 0.0038 | 32 | c.*51 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 4504 | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 261681 | C | CAGCATTA others(25): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0011 | 1 | 266 | 0.0038 | 32 | c.*52 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 4600 | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 261742 | G | GCAGAGCA others(25): Show |
downstream_gene_variant | MODIFIER | NA18981.hp1 NA18992.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0169a0001c0002t0001g0170 | 2 | 266 | 0.0075 | 32 | c.*53 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 4661 | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 261874 | G | GAGCATTA others(25): Show |
downstream_gene_variant | MODIFIER | HG02083.hp1 NA18968.hp2 NA18973.hp1 others(2): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0003c0004t0001 | a0001c0002t0001g0130a0001c0002t0001g0131a0003c0004t0001g0024others(1): Show | 5 | 266 | 0.0188 | 32 | c.*54 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 4793 | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 261906 | C | CAGCATTA others(25): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 266 | 0.0038 | 32 | c.*54 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 4825 | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 261938 | C | CAGCATTA others(25): Show |
downstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 266 | 0.0038 | 32 | c.*55 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 4857 | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 262031 | T | ACAGAGCA others(25): Show |
downstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0170 | 1 | 266 | 0.0038 | 32 | c.*56 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 4949 | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 262062 | G | GGCAGAGC others(25): Show |
downstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 266 | 0.0038 | 32 | c.*56 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 4981 | chr5 | TogoVar | ||||||
SDHB_chr1_17013722_17059032 | 17036673 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01243.hp2 HG01261.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0091a0001c0001t0001g0100a0001c0001t0001g0134others(7): Show | 10 | 368 | 0.0272 | 32 | c.201 others(49): Show |
SDHB | ENSG00000117118.11 | transcript | ENST00000375499.8 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
SDHC_chr1_161309381_161368206 | 161339662 | G | GTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG02155.hp2 NA18951.hp1 NA18980.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0023a0001c0001t0001g0080others(2): Show | 5 | 330 | 0.0152 | 32 | c.180 others(47): Show |
SDHC | ENSG00000143252.16 | transcript | ENST00000367975.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SDK1_chr7_3296252_4274000 | 3435321 | C | CTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0013 | a0013c0084 | a0013c0084t0045 | a0013c0084t0045g0011 | 1 | 116 | 0.0086 | 32 | c.298 others(53): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SDK1_chr7_3296252_4274000 | 4074856 | T | TACTTTCT others(25): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0090 | a0002c0090t0010 | a0002c0090t0010g0047 | 1 | 116 | 0.0086 | 32 | c.301 others(51): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 20/44 | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4139539 | A | ATATGTGT others(25): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG00735.hp2 others(20): Show |
a0001a0002a0003others(10): Show | a0001c0046a0001c0059a0001c0064others(15): Show | a0001c0046t0022a0001c0059t0027a0001c0064t0006others(20): Show | a0001c0046t0022g0091a0001c0059t0027g0090a0001c0064t0006g0111others(20): Show | 23 | 116 | 0.1983 | 32 | c.422 others(51): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 28/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SDK1_chr7_3296252_4274000 | 4139539 | A | ATATGTGT others(25): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02559.hp2 HG02622.hp1 others(1): Show |
a0001a0015 | a0001c0027a0001c0067a0001c0087others(1): Show | a0001c0027t0020a0001c0067t0068a0001c0087t0009others(1): Show | a0001c0027t0020g0087a0001c0067t0068g0001a0001c0087t0009g0054others(1): Show | 4 | 116 | 0.0345 | 32 | c.422 others(51): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 28/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SDK1_chr7_3296252_4274000 | 4157479 | A | AAGGAAGG others(25): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01109.hp1 HG01123.hp2 others(2): Show |
a0003a0006a0007 | a0003c0001a0006c0006a0007c0016others(1): Show | a0003c0001t0059a0006c0006t0012a0007c0016t0001others(2): Show | a0003c0001t0059g0024a0006c0006t0012g0115a0007c0016t0001g0114others(2): Show | 5 | 116 | 0.0431 | 32 | c.462 others(49): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 30/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SDK2_chr17_73329384_73649445 | 73355159 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02129.hp1 NA18961.hp1 |
a0001a0009 | a0001c0004a0001c0015a0009c0021 | a0001c0004t0010a0001c0015t0012a0009c0021t0019 | a0001c0004t0010g0087a0001c0015t0012g0073a0009c0021t0019g0045 | 3 | 204 | 0.0147 | 32 | c.559 others(51): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 40/44 | chr17 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73355174 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0013 | a0001c0013t0013 | a0001c0013t0013g0195 | 1 | 204 | 0.0049 | 32 | c.559 others(51): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 40/44 | chr17 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73355174 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0029 | a0002c0029t0003 | a0002c0029t0003g0078 | 1 | 204 | 0.0049 | 32 | c.559 others(51): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 40/44 | chr17 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73355174 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02886.hp2 |
a0001 | a0001c0005a0001c0008 | a0001c0005t0050a0001c0008t0085 | a0001c0005t0050g0032a0001c0008t0085g0142 | 2 | 204 | 0.0098 | 32 | c.559 others(51): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 40/44 | chr17 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73355174 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0005 | a0005c0012 | a0005c0012t0039 | a0005c0012t0039g0153 | 1 | 204 | 0.0049 | 32 | c.559 others(51): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 40/44 | chr17 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73509902 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0010 | a0001c0010t0004 | a0001c0010t0004g0164 | 1 | 204 | 0.0049 | 32 | c.65- others(47): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 1/44 | chr17 | TogoVar | ||||||
SEC14L3_chr22_30454229_30477017 | 30454720 | C | CTATAATA others(25): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02809.hp1 others(7): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0008a0004c0004t0001g0144 | 10 | 454 | 0.0220 | 32 | c.*53 others(43): Show |
SEC14L3 | ENSG00000100012.12 | transcript | ENST00000215812.9 | protein_coding | 4508 | chr22 | TogoVar | ||||||
SEC14L3_chr22_30454229_30477017 | 30454727 | C | CTATAATA others(25): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG02717.hp1 |
a0007 | a0007c0009 | a0007c0009t0007 | a0007c0009t0007g0128a0007c0009t0007g0146 | 2 | 454 | 0.0044 | 32 | c.*52 others(43): Show |
SEC14L3 | ENSG00000100012.12 | transcript | ENST00000215812.9 | protein_coding | 4501 | chr22 | TogoVar | ||||||
SEC14L3_chr22_30454229_30477017 | 30454865 | A | AATATATA others(25): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02809.hp1 HG02970.hp2 others(4): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0008 | 7 | 454 | 0.0154 | 32 | c.*51 others(43): Show |
SEC14L3 | ENSG00000100012.12 | transcript | ENST00000215812.9 | protein_coding | 4363 | chr22 | TogoVar | ||||||
SEC22A_chr3_123196943_123279136 | 123220867 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0073 | 1 | 340 | 0.0029 | 32 | c.183 others(49): Show |
SEC22A | ENSG00000121542.12 | transcript | ENST00000492595.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SEC23B_chr20_18502940_18566415 | 18550064 | C | CTATGTAT others(25): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(82): Show |
a0001a0011a0013 | a0001c0001a0001c0013a0011c0014others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0013others(69): Show | 85 | 410 | 0.2073 | 32 | c.190 others(50): Show |
SEC23B | ENSG00000101310.17 | transcript | ENST00000650089.1 | protein_coding | 16/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SEC24B_chr4_109428815_109545896 | 109482979 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 222 | 0.0045 | 32 | c.116 others(51): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |