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 | 4074856 | T | TACTTTCT others(17): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01109.hp1 HG01175.hp1 others(2): Show |
a0002a0007a0010 | a0002c0055a0007c0006a0007c0045others(1): Show | a0002c0055t0002a0007c0006t0001a0007c0006t0012others(2): Show | a0002c0055t0002g0101 a0007c0006t0001g0036 a0007c0006t0012g0115 others(2): Show |
5 | 116 | 0.0431 | 24 | c.301 others(43): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 20/44 | chr7 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 4083546 | C | CTCCCTCC others(17): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01081.hp2 HG01123.hp2 others(21): Show |
a0001a0002a0005others(10): Show | a0001c0010a0001c0011a0001c0038others(20): Show | a0001c0010t0002a0001c0011t0008a0001c0038t0002others(20): Show | a0001c0010t0002g0085 a0001c0011t0008g0028 a0001c0038t0002g0077 others(21): Show |
24 | 116 | 0.2069 | 24 | c.332 others(43): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 22/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73355159 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01981.hp1 HG01981.hp2 others(2): Show |
a0001a0002a0010others(1): Show | a0001c0023a0002c0031a0010c0100others(1): Show | a0001c0023t0017a0002c0031t0006a0010c0100t0013others(1): Show | a0001c0023t0017g0189 a0002c0031t0006g0121 a0002c0031t0006g0157 others(2): Show |
5 | 204 | 0.0245 | 24 | c.559 others(43): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 40/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73355174 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03098.hp2 |
a0001 | a0001c0025 | a0001c0025t0016 | a0001c0025t0016g0055 a0001c0025t0016g0180 |
2 | 204 | 0.0098 | 24 | c.559 others(43): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 40/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73405517 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0079 | a0002c0079t0002 | a0002c0079t0002g0200 | 1 | 204 | 0.0049 | 24 | c.248 others(43): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 18/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73509902 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01884.hp1 HG02976.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0005a0001c0007others(7): Show | a0001c0004t0001a0001c0004t0010a0001c0005t0017others(8): Show | a0001c0004t0001g0110 a0001c0004t0010g0021 a0001c0005t0017g0105 others(8): Show |
11 | 204 | 0.0539 | 24 | c.65- others(39): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 1/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73545099 | G | GCACACAC others(17): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02559.hp1 HG02559.hp2 others(2): Show |
a0001a0002a0005 | a0001c0003a0001c0025a0001c0084others(2): Show | a0001c0003t0061a0001c0025t0016a0001c0084t0088others(2): Show | a0001c0003t0061g0041 a0001c0025t0016g0180 a0001c0084t0088g0015 others(2): Show |
5 | 204 | 0.0245 | 24 | c.65- others(41): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 1/44 | chr17 | TogoVar | |||||||
SDR42E2_chr16_22157506_22196751 | 22173903 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01993.hp1 NA18955.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0070 a0001c0001t0001g0095 a0001c0001t0001g0096 others(3): Show |
6 | 356 | 0.0169 | 24 | c.589 others(41): Show |
SDR42E2 | ENSG00000183921.8 | transcript | ENST00000602312.3 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SDR42E2_chr16_22157506_22196751 | 22173905 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 356 | 0.0028 | 24 | c.589 others(41): Show |
SDR42E2 | ENSG00000183921.8 | transcript | ENST00000602312.3 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SDR42E2_chr16_22157506_22196751 | 22186836 | T | TCCCTCCC others(17): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp2 others(153): Show |
a0001a0002a0005others(3): Show | a0001c0001a0002c0002a0002c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0011 others(127): Show |
156 | 356 | 0.4382 | 24 | c.101 others(39): Show |
SDR42E2 | ENSG00000183921.8 | transcript | ENST00000602312.3 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SDS_chr12_113387445_113408887 | 113396544 | C | CCCTTCCT others(17): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 344 | 0.0029 | 24 | c.653 others(39): Show |
SDS | ENSG00000135094.11 | transcript | ENST00000257549.9 | protein_coding | 6/7 | chr12 | TogoVar | |||||||
SEC14L4_chr22_30483902_30510695 | 30501846 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0108 | 1 | 424 | 0.0024 | 24 | c.130 others(41): Show |
SEC14L4 | ENSG00000133488.15 | transcript | ENST00000255858.12 | protein_coding | 2/11 | chr22 | TogoVar | |||||||
SEC16B_chr1_177923788_177975058 | 177965400 | G | GGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02965.hp1 others(5): Show |
a0001a0016a0019 | a0001c0005a0001c0017a0001c0036others(2): Show | a0001c0005t0001a0001c0017t0001a0001c0036t0001others(2): Show | a0001c0005t0001g0257 a0001c0005t0001g0258 a0001c0017t0001g0060 others(4): Show |
8 | 408 | 0.0196 | 24 | c.413 others(39): Show |
SEC16B | ENSG00000120341.19 | transcript | ENST00000308284.11 | protein_coding | 3/25 | chr1 | TogoVar | |||||||
SEC22A_chr3_123196943_123279136 | 123220867 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01358.hp1 HG03927.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0092 others(3): Show |
6 | 340 | 0.0177 | 24 | c.183 others(41): Show |
SEC22A | ENSG00000121542.12 | transcript | ENST00000492595.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SEC22A_chr3_123196943_123279136 | 123273808 | C | CAAAAAAA others(17): Show |
3_prime_UTR_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0053 | 1 | 340 | 0.0029 | 24 | c.*20 others(35): Show |
SEC22A | ENSG00000121542.12 | transcript | ENST00000492595.6 | protein_coding | 7/7 | 2093 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SEC22B_chr1_120145898_120181520 | 120178958 | A | AACACACA others(17): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG01081.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 a0001c0002t0002g0022 |
3 | 380 | 0.0079 | 24 | c.-25 others(35): Show |
SEC22B | ENSG00000265808.4 | transcript | ENST00000578049.4 | protein_coding | 2439 | chr1 | TogoVar | |||||||
SEC23IP_chr10_119887730_119949657 | 119890573 | C | CAATGGAC others(17): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(47): Show |
a0001 | a0001c0003a0001c0014 | a0001c0003t0004a0001c0003t0014a0001c0003t0032others(1): Show | a0001c0003t0004g0001 a0001c0003t0004g0006 a0001c0003t0004g0011 others(30): Show |
50 | 400 | 0.1250 | 24 | c.-22 others(35): Show |
SEC23IP | ENSG00000107651.15 | transcript | ENST00000369075.8 | protein_coding | 2156 | chr10 | TogoVar | |||||||
SEC24A_chr5_134643785_134732909 | 134688667 | T | TTTTATTT others(17): Show |
intron_variant | MODIFIER | NA18981.hp2 NA18991.hp1 NA19000.hp2 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0006a0001c0001t0008a0001c0007t0006 | a0001c0001t0006g0048 a0001c0001t0006g0050 a0001c0001t0006g0052 others(2): Show |
5 | 318 | 0.0157 | 24 | c.172 others(41): Show |
SEC24A | ENSG00000113615.13 | transcript | ENST00000398844.7 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SEC24B_chr4_109428815_109545896 | 109482979 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0145 | 1 | 222 | 0.0045 | 24 | c.116 others(43): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEC24B_chr4_109428815_109545896 | 109482979 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 222 | 0.0045 | 24 | c.116 others(43): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEC24B_chr4_109428815_109545896 | 109482979 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 a0001c0001t0001g0211 |
2 | 222 | 0.0090 | 24 | c.116 others(43): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEC24B_chr4_109428815_109545896 | 109482979 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG00558.hp1 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0147 |
2 | 222 | 0.0090 | 24 | c.116 others(43): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEC24B_chr4_109428815_109545896 | 109483040 | A | ATATTTAT others(17): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02055.hp2 |
a0001 | a0001c0008 | a0001c0008t0008 | a0001c0008t0008g0219 a0001c0008t0008g0220 |
2 | 222 | 0.0090 | 24 | c.116 others(43): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEC24D_chr4_118717823_118841126 | 118804885 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 300 | 0.0033 | 24 | c.913 others(39): Show |
SEC24D | ENSG00000150961.15 | transcript | ENST00000280551.11 | protein_coding | 7/22 | chr4 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82841440 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 328 | 0.0031 | 24 | c.296 others(41): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 22/26 | chr4 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82841442 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp2 others(18): Show |
a0001 | a0001c0001a0001c0020 | a0001c0001t0001a0001c0020t0001 | a0001c0001t0001g0021 a0001c0001t0001g0120 a0001c0001t0001g0121 others(18): Show |
21 | 328 | 0.0640 | 24 | c.296 others(41): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 22/26 | chr4 | TogoVar | |||||||
SEC61G_chr7_54747253_54764211 | 54760999 | T | TAAAAAAA others(17): Show |
upstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 406 | 0.0025 | 24 | c.-18 others(35): Show |
SEC61G | ENSG00000132432.14 | transcript | ENST00000352861.9 | protein_coding | 1789 | chr7 | TogoVar | |||||||
SEC63_chr6_107862756_107963208 | 107863559 | T | TGCGCGCG others(17): Show |
downstream_gene_variant | MODIFIER | HG03710.hp1 NA19067.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0118 a0001c0001t0001g0169 a0001c0001t0003g0077 |
3 | 332 | 0.0090 | 24 | c.*81 others(35): Show |
SEC63 | ENSG00000025796.14 | transcript | ENST00000369002.9 | protein_coding | 4196 | chr6 | TogoVar | |||||||
SECISBP2L_chr15_48983638_49051446 | 49010124 | G | GACACACA others(17): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02074.hp2 HG02717.hp2 others(4): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0007a0002c0002t0002a0002c0002t0004 | a0001c0003t0007g0016 a0001c0003t0007g0196 a0002c0002t0002g0106 others(3): Show |
7 | 378 | 0.0185 | 24 | c.186 others(41): Show |
SECISBP2L | ENSG00000138593.9 | transcript | ENST00000559471.6 | protein_coding | 13/17 | chr15 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13848313 | G | GAGAAGAA others(17): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG01071.hp1 others(12): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0081 a0001c0001t0001g0091 a0001c0001t0001g0110 others(12): Show |
15 | 324 | 0.0463 | 24 | c.*11 others(35): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 933 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13848319 | G | GAGAAGAA others(17): Show |
downstream_gene_variant | MODIFIER | HG03688.hp1 NA19043.hp1 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0107 a0001c0001t0002g0002 a0001c0001t0002g0019 |
3 | 324 | 0.0093 | 24 | c.*11 others(35): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 927 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13848319 | G | GAGAAGAA others(17): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 324 | 0.0031 | 24 | c.*11 others(35): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 927 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13848357 | G | GAAGAAGA others(17): Show |
downstream_gene_variant | MODIFIER | NA18971.hp1 NA19057.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0245 a0002c0002t0003g0249 |
2 | 324 | 0.0062 | 24 | c.*11 others(35): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 889 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13848555 | G | GAGAAGAA others(17): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 a0001c0001t0001g0238 |
2 | 324 | 0.0062 | 24 | c.*92 others(33): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 691 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13939035 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 324 | 0.0031 | 24 | c.115 others(41): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13939040 | G | GGTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02280.hp2 HG02647.hp2 others(3): Show |
a0001a0008 | a0001c0001a0008c0014 | a0001c0001t0001a0001c0001t0002a0008c0014t0002 | a0001c0001t0001g0321 a0001c0001t0002g0058 a0001c0001t0002g0059 others(3): Show |
6 | 324 | 0.0185 | 24 | c.115 others(41): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13983023 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01167.hp2 HG02165.hp1 others(10): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 others(10): Show |
13 | 324 | 0.0401 | 24 | c.58+ others(39): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 1/19 | chr20 | TogoVar | |||||||
SEL1L_chr14_81466547_81538853 | 81510514 | C | CTATATAT others(17): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 360 | 0.0028 | 24 | c.341 others(41): Show |
SEL1L | ENSG00000071537.14 | transcript | ENST00000336735.9 | protein_coding | 3/20 | chr14 | TogoVar | |||||||
SEL1L_chr14_81466547_81538853 | 81510514 | C | CTCTCTCT others(17): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 360 | 0.0028 | 24 | c.341 others(41): Show |
SEL1L | ENSG00000071537.14 | transcript | ENST00000336735.9 | protein_coding | 3/20 | chr14 | TogoVar | |||||||
SELENBP1_chr1_151359304_151377705 | 151367355 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01978.hp1 HG03688.hp2 HG03927.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013 a0001c0001t0001g0117 a0001c0001t0001g0129 others(1): Show |
8 | 438 | 0.0183 | 24 | c.482 others(39): Show |
SELENBP1 | ENSG00000143416.21 | transcript | ENST00000368868.10 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SELENOM_chr22_31099777_31112568 | 31107583 | G | GCCCCGCC others(17): Show |
upstream_gene_variant | MODIFIER | HG03139.hp1 NA18988.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 378 | 0.0053 | 24 | c.-79 others(31): Show |
SELENOM | ENSG00000198832.11 | transcript | ENST00000400299.6 | protein_coding | 16 | chr22 | TogoVar | |||||||
SELENON_chr1_25795193_25823221 | 25819429 | T | TGTGTGTG others(17): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0092 | 1 | 392 | 0.0026 | 24 | c.*37 others(35): Show |
SELENON | ENSG00000162430.18 | transcript | ENST00000361547.7 | protein_coding | 1209 | WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS | chr1 | TogoVar | ||||||
SELENOT_chr3_150598321_150635436 | 150631202 | C | CAAAAAAA others(17): Show |
downstream_gene_variant | MODIFIER | HG01258.hp2 HG02486.hp2 NA18969.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0156 others(1): Show |
4 | 380 | 0.0105 | 24 | c.*35 others(35): Show |
SELENOT | ENSG00000198843.14 | transcript | ENST00000471696.6 | protein_coding | 767 | chr3 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 83965666 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | NA18957.hp1 NA18957.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0264 a0001c0001t0003g0029 |
2 | 276 | 0.0073 | 24 | c.171 others(43): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 15/16 | chr7 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 84095358 | C | CACACACA others(17): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0078 | 1 | 276 | 0.0036 | 24 | c.453 others(43): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 4/16 | chr7 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 84095358 | C | CACATATA others(17): Show |
intron_variant | MODIFIER | HG02258.hp1 NA18966.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0006a0001c0004t0005 | a0001c0003t0006g0083 a0001c0004t0005g0114 |
2 | 276 | 0.0073 | 24 | c.453 others(43): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 4/16 | chr7 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 84195012 | G | GAGAGAGA others(17): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0165 | 1 | 276 | 0.0036 | 24 | c.-42 others(33): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 224 | chr7 | TogoVar | |||||||
SEMA3B_chr3_50264147_50282546 | 50272855 | A | AAATAATA others(17): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG02723.hp2 others(2): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0016 | a0001c0001t0001a0002c0002t0001a0005c0016t0007 | a0001c0001t0001g0058 a0001c0001t0001g0059 a0002c0002t0001g0086 others(2): Show |
5 | 390 | 0.0128 | 24 | c.665 others(39): Show |
SEMA3B | ENSG00000012171.20 | transcript | ENST00000616701.5 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SEMA3B_chr3_50264147_50282546 | 50272879 | T | TAATAATA others(17): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00597.hp2 others(32): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0004 a0002c0002t0001g0016 a0002c0002t0001g0040 others(5): Show |
35 | 390 | 0.0897 | 24 | c.665 others(39): Show |
SEMA3B | ENSG00000012171.20 | transcript | ENST00000616701.5 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SEMA3C_chr7_80737538_80924051 | 80746718 | G | GGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 244 | 0.0041 | 24 | c.184 others(43): Show |
SEMA3C | ENSG00000075223.14 | transcript | ENST00000265361.8 | protein_coding | 17/17 | chr7 | TogoVar |