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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SDK2_chr17_73329384_73649445 | 73411958 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02559.hp2 HG03540.hp2 others(1): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0035others(1): Show | a0001c0002t0001a0001c0003t0061a0001c0035t0056others(1): Show | a0001c0002t0001g0048 a0001c0003t0061g0042 a0001c0035t0056g0066 others(1): Show |
4 | 202 | 0.0198 | 28 | c.248 others(47): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 18/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73426208 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0010 | a0001c0010t0006 | a0001c0010t0006g0054 | 1 | 4 | 0.2500 | 28 | c.158 others(47): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 12/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73483689 | A | ATATATGT others(21): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0027 | a0027c0114 | a0027c0114t0094 | a0027c0114t0094g0179 | 1 | 198 | 0.0051 | 28 | c.225 others(47): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 2/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73509902 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02071.hp1 HG02258.hp2 others(6): Show |
a0001a0004a0005others(1): Show | a0001c0002a0001c0004a0001c0007others(6): Show | a0001c0002t0004a0001c0004t0019a0001c0007t0003others(6): Show | a0001c0002t0004g0039 a0001c0004t0019g0132 a0001c0007t0003g0014 others(6): Show |
9 | 58 | 0.1552 | 28 | c.65- others(43): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 1/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73545099 | G | GCACACAC others(21): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0004 | a0004c0027 | a0004c0027t0024 | a0004c0027t0024g0033 | 1 | 80 | 0.0125 | 28 | c.65- others(45): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 1/44 | chr17 | TogoVar | |||||||
SDR42E2_chr16_22157506_22196751 | 22173903 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02083.hp1 NA18959.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 a0001c0001t0001g0099 a0001c0001t0001g0100 others(1): Show |
4 | 163 | 0.0245 | 28 | c.589 others(45): Show |
SDR42E2 | ENSG00000183921.8 | transcript | ENST00000602312.3 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SEC16B_chr1_177923788_177975058 | 177965400 | G | GGTGTGTG others(21): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0060 | 1 | 193 | 0.0052 | 28 | c.413 others(43): Show |
SEC16B | ENSG00000120341.19 | transcript | ENST00000308284.11 | protein_coding | 3/25 | chr1 | TogoVar | |||||||
SEC22A_chr3_123196943_123279136 | 123220867 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG01516.hp1 NA18994.hp2 NA19006.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0120 a0001c0001t0002g0091 a0001c0001t0002g0148 |
3 | 244 | 0.0123 | 28 | c.183 others(45): Show |
SEC22A | ENSG00000121542.12 | transcript | ENST00000492595.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SEC24A_chr5_134643785_134732909 | 134688667 | T | TTTTATTT others(21): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0048 | 1 | 283 | 0.0035 | 28 | c.172 others(45): 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(21): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 12 | 0.0833 | 28 | c.116 others(47): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEC24B_chr4_109428815_109545896 | 109483003 | C | CACACACA others(21): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0008 | a0001c0008t0008 | a0001c0008t0008g0219 | 1 | 113 | 0.0088 | 28 | c.116 others(47): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEC24B_chr4_109428815_109545896 | 109483044 | G | GTATTTAT others(21): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00735.hp1 others(34): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0001c0015others(5): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0015others(9): Show | a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0111 others(34): Show |
37 | 189 | 0.1958 | 28 | c.116 others(47): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEC24B_chr4_109428815_109545896 | 109483058 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02622.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 a0001c0001t0002g0076 a0001c0001t0002g0079 |
3 | 220 | 0.0136 | 28 | c.116 others(47): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEC31A_chr4_82813509_82896153 | 82841442 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG01516.hp1 HG02523.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0132 a0001c0001t0001g0145 a0001c0001t0001g0162 others(3): Show |
6 | 41 | 0.1463 | 28 | c.296 others(45): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 22/26 | chr4 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82841467 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG01884.hp2 NA18970.hp1 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 a0001c0001t0001g0182 a0001c0001t0001g0184 |
3 | 304 | 0.0099 | 28 | c.296 others(45): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 22/26 | chr4 | TogoVar | |||||||
SEC61G_chr7_54747253_54764211 | 54760999 | T | TAAAAAAA others(21): Show |
upstream_gene_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 125 | 0.0080 | 28 | c.-18 others(39): Show |
SEC61G | ENSG00000132432.14 | transcript | ENST00000352861.9 | protein_coding | 1789 | chr7 | TogoVar | |||||||
SEC63_chr6_107862756_107963208 | 107863569 | C | CTGCGCGC others(21): Show |
downstream_gene_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0132 | 1 | 321 | 0.0031 | 28 | c.*81 others(39): Show |
SEC63 | ENSG00000025796.14 | transcript | ENST00000369002.9 | protein_coding | 4186 | chr6 | TogoVar | |||||||
SEC63_chr6_107862756_107963208 | 107863571 | C | CGCGCGCG others(21): Show |
downstream_gene_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 63 | 0.0159 | 28 | c.*81 others(39): Show |
SEC63 | ENSG00000025796.14 | transcript | ENST00000369002.9 | protein_coding | 4184 | chr6 | TogoVar | |||||||
SECISBP2L_chr15_48983638_49051446 | 49010124 | G | GACACACA others(21): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0007 | a0007c0012 | a0007c0012t0007 | a0007c0012t0007g0198 | 1 | 140 | 0.0071 | 28 | c.186 others(45): Show |
SECISBP2L | ENSG00000138593.9 | transcript | ENST00000559471.6 | protein_coding | 13/17 | chr15 | TogoVar | |||||||
SECTM1_chr17_82316024_82338766 | 82333604 | T | TCAGCACC others(21): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 202 | 0.0050 | 28 | c.-53 others(41): Show |
SECTM1 | ENSG00000141574.8 | transcript | ENST00000269389.8 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SEH1L_chr18_12943011_12992531 | 12962459 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 101 | 0.0099 | 28 | c.310 others(43): Show |
SEH1L | ENSG00000085415.16 | transcript | ENST00000399892.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13939035 | G | GTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02809.hp2 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0001 | a0001c0001t0001g0130 a0001c0011t0001g0135 |
2 | 249 | 0.0080 | 28 | c.115 others(45): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13939040 | G | GGTTTTTT others(21): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(10): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0002a0007c0010others(1): Show | a0001c0001t0002a0002c0002t0004a0007c0010t0002others(1): Show | a0001c0001t0002g0006 a0001c0001t0002g0013 a0001c0001t0002g0026 others(10): Show |
13 | 23 | 0.5652 | 28 | c.115 others(45): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13939040 | G | GTTTTTTT others(21): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 11 | 0.0909 | 28 | c.115 others(45): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13983023 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 a0001c0001t0001g0136 |
2 | 9 | 0.2222 | 28 | c.58+ others(43): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 1/19 | chr20 | TogoVar | |||||||
SELENBP1_chr1_151359304_151377705 | 151367355 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01192.hp1 HG01261.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0051 a0001c0001t0001g0088 a0001c0001t0001g0103 others(11): Show |
15 | 95 | 0.1579 | 28 | c.482 others(43): Show |
SELENBP1 | ENSG00000143416.21 | transcript | ENST00000368868.10 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SELENON_chr1_25795193_25823221 | 25819429 | T | TGTGTGTG others(21): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0004 | a0001c0004t0012 | a0001c0004t0012g0023 | 1 | 41 | 0.0244 | 28 | c.*37 others(39): Show |
SELENON | ENSG00000162430.18 | transcript | ENST00000361547.7 | protein_coding | 1209 | WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS | chr1 | TogoVar | ||||||
SELENON_chr1_25795193_25823221 | 25819429 | T | TGTGTGTG others(21): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02723.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0015 | 2 | 42 | 0.0476 | 28 | c.*37 others(39): 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(21): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 31 | 0.0323 | 28 | c.*35 others(39): Show |
SELENOT | ENSG00000198843.14 | transcript | ENST00000471696.6 | protein_coding | 767 | chr3 | TogoVar | |||||||
SELE_chr1_169717640_169739079 | 169739019 | T | TGCCTTCC others(21): Show |
upstream_gene_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 436 | 0.0023 | 28 | c.-51 others(39): Show |
SELE | ENSG00000007908.16 | transcript | ENST00000333360.12 | protein_coding | 4941 | chr1 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 83965666 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0004 | a0001c0004t0031 | a0001c0004t0031g0126 | 1 | 121 | 0.0083 | 28 | c.171 others(47): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 15/16 | chr7 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 84086519 | T | TATATAAT others(21): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0075 | 1 | 133 | 0.0075 | 28 | c.453 others(47): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 4/16 | chr7 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 84195012 | G | GAGAGAGA others(21): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG03041.hp2 |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0155 a0001c0003t0006g0156 |
2 | 271 | 0.0074 | 28 | c.-42 others(37): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 224 | chr7 | TogoVar | |||||||
SEMA3D_chr7_84990553_85192056 | 85066913 | C | CATACACA others(21): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02132.hp1 HG02523.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0007a0002c0002t0038 | a0002c0002t0003g0001 a0002c0002t0003g0018 a0002c0002t0003g0020 others(7): Show |
10 | 127 | 0.0787 | 28 | c.589 others(45): Show |
SEMA3D | ENSG00000153993.14 | transcript | ENST00000284136.11 | protein_coding | 7/18 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83387813 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02647.hp1 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0007a0001c0005t0010a0001c0005t0059 | a0001c0005t0007g0211 a0001c0005t0007g0212 a0001c0005t0007g0216 others(3): Show |
6 | 224 | 0.0268 | 28 | c.166 others(45): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 14/16 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83387839 | G | GTTATATA others(21): Show |
intron_variant | MODIFIER | HG03486.hp1 NA18522.hp2 NA20129.hp1 |
a0001a0003 | a0001c0006a0001c0008a0003c0009 | a0001c0006t0054a0001c0008t0010a0003c0009t0063 | a0001c0006t0054g0169 a0001c0008t0010g0192 a0003c0009t0063g0182 |
3 | 183 | 0.0164 | 28 | c.166 others(45): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 14/16 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83554977 | A | AAAATAAA others(21): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01928.hp1 HG02148.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0006a0001c0002t0003a0001c0003t0001others(1): Show | a0001c0001t0006g0189 a0001c0002t0003g0036 a0001c0003t0001g0028 others(6): Show |
9 | 211 | 0.0427 | 28 | c.116 others(47): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 1/16 | chr7 | TogoVar | |||||||
SEMA4D_chr9_89372235_89503113 | 89461700 | C | CTCTCTCT others(21): Show |
intron_variant | MODIFIER | NA18940.hp1 NA18970.hp1 NA18977.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0004 | a0001c0001t0001g0182 a0001c0004t0004g0040 a0001c0004t0004g0195 others(1): Show |
4 | 129 | 0.0310 | 28 | c.-30 others(47): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 1/15 | chr9 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9088636 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0032 | 1 | 118 | 0.0085 | 28 | c.207 others(49): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 16/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9197728 | T | TTGTATGT others(21): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02280.hp2 |
a0001 | a0001c0002a0001c0013 | a0001c0002t0060a0001c0013t0036 | a0001c0002t0060g0085 a0001c0013t0036g0008 |
2 | 56 | 0.0357 | 28 | c.933 others(43): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 9/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9353056 | A | AAAGGAAG others(21): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0109 | 1 | 132 | 0.0076 | 28 | c.125 others(47): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 3/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9353096 | A | AAGGAAAG others(21): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02647.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0070a0001c0006t0044 | a0001c0001t0070g0117 a0001c0006t0044g0009 |
2 | 51 | 0.0392 | 28 | c.125 others(47): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 3/22 | chr5 | TogoVar | |||||||
SEMA6A_chr5_116438555_116579823 | 116524775 | C | CACACACA others(21): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0114 others(6): Show |
9 | 93 | 0.0968 | 28 | c.-38 others(47): Show |
SEMA6A | ENSG00000092421.17 | transcript | ENST00000343348.11 | protein_coding | 1/18 | chr5 | TogoVar | |||||||
SEMA6A_chr5_116438555_116579823 | 116524777 | C | CACACACA others(21): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0239 | 1 | 302 | 0.0033 | 28 | c.-38 others(47): Show |
SEMA6A | ENSG00000092421.17 | transcript | ENST00000343348.11 | protein_coding | 1/18 | chr5 | TogoVar | |||||||
SEMA6A_chr5_116438555_116579823 | 116524791 | C | CACACACA others(21): Show |
intron_variant | MODIFIER | NA18963.hp2 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0245 a0001c0001t0010g0247 |
2 | 271 | 0.0074 | 28 | c.-38 others(47): Show |
SEMA6A | ENSG00000092421.17 | transcript | ENST00000343348.11 | protein_coding | 1/18 | chr5 | TogoVar | |||||||
SEMA6A_chr5_116438555_116579823 | 116579517 | T | TTTTCTTT others(21): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG00741.hp2 others(26): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0019 a0001c0001t0002g0214 a0001c0001t0002g0217 others(25): Show |
29 | 39 | 0.7436 | 28 | c.-53 others(39): Show |
SEMA6A | ENSG00000092421.17 | transcript | ENST00000343348.11 | protein_coding | 4695 | chr5 | TogoVar | |||||||
SEMA6A_chr5_116438555_116579823 | 116579526 | T | TTTCTTTC others(21): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0020 | 1 | 302 | 0.0033 | 28 | c.-53 others(39): Show |
SEMA6A | ENSG00000092421.17 | transcript | ENST00000343348.11 | protein_coding | 4704 | chr5 | TogoVar | |||||||
SEMA6D_chr15_47712505_47779228 | 47746984 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02300.hp1 HG02738.hp1 |
a0002 | a0002c0003 | a0002c0003t0004a0002c0003t0015 | a0002c0003t0004g0128 a0002c0003t0004g0180 a0002c0003t0015g0178 |
3 | 124 | 0.0242 | 28 | c.-54 others(47): Show |
SEMA6D | ENSG00000137872.17 | transcript | ENST00000536845.7 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SEMA6D_chr15_47712505_47779228 | 47752986 | G | GTGGAGAT others(21): Show |
intron_variant | MODIFIER | HG00558.hp1 NA18747.hp1 NA18948.hp1 others(7): Show |
a0002 | a0002c0003 | a0002c0003t0004a0002c0003t0011a0002c0003t0014others(2): Show | a0002c0003t0004g0078 a0002c0003t0004g0122 a0002c0003t0004g0129 others(6): Show |
10 | 386 | 0.0259 | 28 | c.-54 others(45): Show |
SEMA6D | ENSG00000137872.17 | transcript | ENST00000536845.7 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
SEMG1_chr20_45202033_45214768 | 45210689 | G | GGGAAGGA others(21): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02615.hp2 HG02630.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 4 | 85 | 0.0471 | 28 | c.*11 others(39): Show |
SEMG1 | ENSG00000124233.12 | transcript | ENST00000372781.4 | protein_coding | 922 | chr20 | TogoVar |