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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMCO4_chr11_93473472_93548391 | 93514374 | CTATATAT others(1): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG01256.hp2 HG01981.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0013 a0001c0001t0002g0028 a0001c0001t0002g0090 others(10): Show |
16 | 412 | 0.0388 | -8 | c.-15 others(29): Show |
SMCO4 | ENSG00000166002.7 | transcript | ENST00000298966.7 | protein_coding | 1/2 | chr11 | TogoVar | |||||||
SMCO4_chr11_93473472_93548391 | 93534215 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01346.hp2 HG01496.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0034 a0001c0001t0001g0066 a0001c0001t0002g0155 others(13): Show |
16 | 412 | 0.0388 | -8 | c.-15 others(27): Show |
SMCO4 | ENSG00000166002.7 | transcript | ENST00000298966.7 | protein_coding | 1/2 | chr11 | TogoVar | |||||||
SMG1_chr16_18799860_18931408 | 18817118 | CGGGGGGG others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00558.hp2 others(39): Show |
a0001a0002a0003 | a0001c0007a0001c0010a0001c0016others(4): Show | a0001c0007t0003a0001c0007t0023a0001c0007t0028others(7): Show | a0001c0007t0003g0176 a0001c0007t0003g0195 a0001c0007t0003g0196 others(39): Show |
42 | 300 | 0.1400 | -8 | c.100 others(27): Show |
SMG1 | ENSG00000157106.18 | transcript | ENST00000446231.7 | protein_coding | 57/62 | chr16 | TogoVar | |||||||
SMG1_chr16_18799860_18931408 | 18832582 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02622.hp1 HG02886.hp1 others(2): Show |
a0001a0012 | a0001c0004a0012c0021 | a0001c0004t0007a0012c0021t0007 | a0001c0004t0007g0006 a0001c0004t0007g0007 a0001c0004t0007g0009 others(2): Show |
5 | 300 | 0.0167 | -8 | c.879 others(25): Show |
SMG1 | ENSG00000157106.18 | transcript | ENST00000446231.7 | protein_coding | 51/62 | chr16 | TogoVar | |||||||
SMG1_chr16_18799860_18931408 | 18844474 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02486.hp1 HG06807.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0025a0001c0002t0002others(1): Show | a0001c0001t0001g0071 a0001c0001t0001g0085 a0001c0001t0025g0175 others(3): Show |
6 | 300 | 0.0200 | -8 | c.621 others(25): Show |
SMG1 | ENSG00000157106.18 | transcript | ENST00000446231.7 | protein_coding | 39/62 | chr16 | TogoVar | |||||||
SMG1_chr16_18799860_18931408 | 18847677 | CTTTGTAA others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00558.hp2 others(39): Show |
a0001a0002a0003 | a0001c0007a0001c0010a0001c0016others(4): Show | a0001c0007t0003a0001c0007t0023a0001c0007t0028others(7): Show | a0001c0007t0003g0176 a0001c0007t0003g0195 a0001c0007t0003g0196 others(39): Show |
42 | 300 | 0.1400 | -8 | c.584 others(23): Show |
SMG1 | ENSG00000157106.18 | transcript | ENST00000446231.7 | protein_coding | 37/62 | chr16 | TogoVar | |||||||
SMG1_chr16_18799860_18931408 | 18849069 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00642.hp1 others(14): Show |
a0001a0002a0003 | a0001c0004a0001c0007a0001c0010others(4): Show | a0001c0004t0007a0001c0004t0016a0001c0007t0003others(7): Show | a0001c0004t0007g0006 a0001c0004t0007g0009 a0001c0004t0016g0005 others(14): Show |
17 | 300 | 0.0567 | -8 | c.562 others(25): Show |
SMG1 | ENSG00000157106.18 | transcript | ENST00000446231.7 | protein_coding | 36/62 | chr16 | TogoVar | |||||||
SMG1_chr16_18799860_18931408 | 18865527 | AGTGCTAC others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02258.hp2 others(22): Show |
a0001a0006a0009others(1): Show | a0001c0003a0001c0015a0001c0027others(3): Show | a0001c0003t0001a0001c0003t0006a0001c0003t0010others(5): Show | a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0036 others(22): Show |
25 | 300 | 0.0833 | -8 | c.335 others(27): Show |
SMG1 | ENSG00000157106.18 | transcript | ENST00000446231.7 | protein_coding | 23/62 | chr16 | TogoVar | |||||||
SMG1_chr16_18799860_18931408 | 18867526 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG03225.hp2 HG03471.hp1 NA18991.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0009 | a0001c0001t0001g0095 a0001c0003t0009g0298 a0001c0003t0009g0299 others(1): Show |
4 | 300 | 0.0133 | -8 | c.319 others(25): Show |
SMG1 | ENSG00000157106.18 | transcript | ENST00000446231.7 | protein_coding | 22/62 | chr16 | TogoVar | |||||||
SMG1_chr16_18799860_18931408 | 18887762 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02486.hp1 HG02572.hp1 others(7): Show |
a0001a0006a0009 | a0001c0001a0001c0003a0001c0009others(3): Show | a0001c0001t0008a0001c0003t0001a0001c0003t0006others(4): Show | a0001c0001t0008g0221 a0001c0003t0001g0036 a0001c0003t0001g0037 others(7): Show |
10 | 300 | 0.0333 | -8 | c.822 others(25): Show |
SMG1 | ENSG00000157106.18 | transcript | ENST00000446231.7 | protein_coding | 6/62 | chr16 | TogoVar | |||||||
SMG1_chr16_18799860_18931408 | 18888820 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp2 HG01099.hp1 others(18): Show |
a0001a0010a0012others(1): Show | a0001c0004a0010c0019a0012c0021others(1): Show | a0001c0004t0004a0001c0004t0007a0001c0004t0016others(3): Show | a0001c0004t0004g0011 a0001c0004t0004g0012 a0001c0004t0004g0013 others(18): Show |
21 | 300 | 0.0700 | -8 | c.822 others(23): Show |
SMG1 | ENSG00000157106.18 | transcript | ENST00000446231.7 | protein_coding | 6/62 | chr16 | TogoVar | |||||||
SMG1_chr16_18799860_18931408 | 18894056 | CATAAATA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(63): Show |
a0001a0004a0005 | a0001c0002a0001c0018a0004c0012others(1): Show | a0001c0002t0002a0001c0002t0005a0001c0002t0030others(6): Show | a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 others(63): Show |
66 | 300 | 0.2200 | -8 | c.413 others(25): Show |
SMG1 | ENSG00000157106.18 | transcript | ENST00000446231.7 | protein_coding | 3/62 | chr16 | TogoVar | |||||||
SMG1_chr16_18799860_18931408 | 18919657 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02056.hp1 HG02155.hp2 HG02165.hp2 others(6): Show |
a0001a0008 | a0001c0001a0001c0028a0001c0031others(1): Show | a0001c0001t0001a0001c0028t0001a0001c0031t0001others(1): Show | a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0049 others(6): Show |
9 | 300 | 0.0300 | -8 | c.92+ others(23): Show |
SMG1 | ENSG00000157106.18 | transcript | ENST00000446231.7 | protein_coding | 1/62 | chr16 | TogoVar | |||||||
SMG5_chr1_156244224_156287825 | 156256310 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG02055.hp1 HG02280.hp1 others(4): Show |
a0001 | a0001c0001a0001c0006a0001c0009 | a0001c0001t0003a0001c0006t0003a0001c0009t0003 | a0001c0001t0003g0012 a0001c0001t0003g0261 a0001c0006t0003g0249 others(2): Show |
7 | 368 | 0.0190 | -8 | c.244 others(27): Show |
SMG5 | ENSG00000198952.8 | transcript | ENST00000361813.5 | protein_coding | 16/21 | chr1 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2066652 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG03209.hp2 HG03579.hp1 HG03654.hp2 others(1): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0026others(1): Show | a0001c0001t0001a0002c0002t0005a0006c0026t0011others(1): Show | a0001c0001t0001g0232 a0002c0002t0005g0107 a0006c0026t0011g0112 others(1): Show |
4 | 278 | 0.0144 | -8 | c.383 others(25): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 16/18 | chr17 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2105083 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01123.hp1 HG01255.hp1 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0005others(1): Show | a0002c0002t0001g0004 a0002c0002t0001g0029 a0002c0002t0001g0031 others(10): Show |
13 | 278 | 0.0468 | -8 | c.335 others(29): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 13/18 | chr17 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2112524 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG01074.hp1 HG01167.hp2 others(43): Show |
a0001a0002a0004others(6): Show | a0001c0001a0002c0002a0004c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0002g0237 others(43): Show |
46 | 278 | 0.1655 | -8 | c.335 others(29): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 13/18 | chr17 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2121587 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG01175.hp1 HG02148.hp1 others(12): Show |
a0001a0003a0011 | a0001c0001a0003c0003a0011c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0190 a0001c0001t0001g0256 a0001c0001t0001g0257 others(12): Show |
15 | 278 | 0.0540 | -8 | c.335 others(29): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 13/18 | chr17 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2129793 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00597.hp2 others(86): Show |
a0002a0003a0004others(6): Show | a0002c0002a0002c0012a0002c0035others(8): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0005others(20): Show | a0002c0002t0001g0004 a0002c0002t0001g0012 a0002c0002t0001g0014 others(86): Show |
89 | 278 | 0.3201 | -8 | c.335 others(29): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 13/18 | chr17 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2135996 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG04199.hp2 NA19043.hp2 |
a0002a0009a0023 | a0002c0002a0009c0008a0023c0023 | a0002c0002t0002a0009c0008t0003a0023c0023t0025 | a0002c0002t0002g0075 a0009c0008t0003g0223 a0023c0023t0025g0208 |
3 | 278 | 0.0108 | -8 | c.335 others(29): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 13/18 | chr17 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2183745 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG01978.hp2 others(42): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0025a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0235 others(42): Show |
45 | 278 | 0.1619 | -8 | c.315 others(27): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 12/18 | chr17 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2230214 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01168.hp1 HG02015.hp1 others(11): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0021a0002c0002others(6): Show | a0001c0001t0001a0001c0021t0004a0002c0002t0006others(8): Show | a0001c0001t0001g0213 a0001c0001t0001g0236 a0001c0001t0001g0267 others(11): Show |
14 | 278 | 0.0504 | -8 | c.286 others(27): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 10/18 | chr17 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2230329 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00558.hp1 others(67): Show |
a0001a0003a0008others(2): Show | a0001c0001a0001c0025a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0211 others(67): Show |
70 | 278 | 0.2518 | -8 | c.286 others(27): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 10/18 | chr17 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2236701 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01175.hp1 HG01884.hp2 others(33): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0004c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(11): Show | a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0239 others(33): Show |
36 | 278 | 0.1295 | -8 | c.272 others(23): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 9/18 | chr17 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2255403 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01123.hp1 HG01167.hp2 others(28): Show |
a0002a0004a0005 | a0002c0002a0004c0004a0005c0006 | a0002c0002t0001a0002c0002t0002a0002c0002t0005others(8): Show | a0002c0002t0001g0004 a0002c0002t0001g0029 a0002c0002t0001g0031 others(28): Show |
31 | 278 | 0.1115 | -8 | c.266 others(29): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 8/18 | chr17 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2256951 | GGTATGTA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(158): Show |
a0001a0003a0004others(12): Show | a0001c0001a0001c0021a0001c0024others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0211 others(158): Show |
161 | 278 | 0.5791 | -8 | c.266 others(29): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 8/18 | chr17 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2277132 | CATTTATT others(1): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG01255.hp2 HG01358.hp2 others(9): Show |
a0003a0017a0023 | a0003c0003a0017c0017a0023c0023 | a0003c0003t0001a0003c0003t0002a0017c0017t0001others(1): Show | a0003c0003t0001g0001 a0003c0003t0001g0136 a0003c0003t0001g0138 others(9): Show |
12 | 278 | 0.0432 | -8 | c.266 others(27): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 8/18 | chr17 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2277164 | TATTTTTT others(1): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00639.hp2 others(26): Show |
a0003a0006 | a0003c0003a0006c0005 | a0003c0003t0001a0003c0003t0002a0003c0003t0005others(2): Show | a0003c0003t0001g0139 a0003c0003t0001g0140 a0003c0003t0001g0141 others(26): Show |
29 | 278 | 0.1043 | -8 | c.266 others(27): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 8/18 | chr17 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2277165 | ATTTTTTA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00738.hp2 others(14): Show |
a0003a0006a0008others(1): Show | a0003c0003a0006c0005a0006c0026others(2): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0005others(7): Show | a0003c0003t0001g0171 a0003c0003t0001g0174 a0003c0003t0001g0183 others(14): Show |
17 | 278 | 0.0612 | -8 | c.266 others(27): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 8/18 | chr17 | TogoVar | |||||||
SMG8_chr17_59205035_59220230 | 59209081 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(28): Show |
a0001a0005 | a0001c0001a0005c0015 | a0001c0001t0001a0005c0015t0001 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0005c0015t0001g0002 |
31 | 394 | 0.0787 | -8 | c.-97 others(17): Show |
SMG8 | ENSG00000167447.13 | transcript | ENST00000300917.10 | protein_coding | 953 | chr17 | TogoVar | |||||||
SMG8_chr17_59205035_59220230 | 59209538 | CTTTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(124): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0006 | a0001c0001t0001a0001c0007t0001a0003c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(4): Show |
127 | 394 | 0.3223 | -8 | c.-51 others(17): Show |
SMG8 | ENSG00000167447.13 | transcript | ENST00000300917.10 | protein_coding | 496 | chr17 | TogoVar | |||||||
SMG8_chr17_59205035_59220230 | 59215369 | GTTTTTTT others(1): Show |
G | downstream_gene_variant | MODIFIER | HG01192.hp2 HG01361.hp1 HG01934.hp1 others(25): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0002 a0003c0006t0001g0002 |
28 | 394 | 0.0711 | -8 | c.*36 others(17): Show |
SMG8 | ENSG00000167447.13 | transcript | ENST00000300917.10 | protein_coding | 140 | chr17 | TogoVar | |||||||
SMG9_chr19_43722983_43759962 | 43724830 | TACACACA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG02451.hp1 NA18906.hp2 NA19240.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0029a0001c0002t0021 | a0001c0001t0029g0023 a0001c0002t0021g0096 |
3 | 320 | 0.0094 | -8 | c.*67 others(19): Show |
SMG9 | ENSG00000105771.14 | transcript | ENST00000270066.11 | protein_coding | 3152 | chr19 | TogoVar | |||||||
SMIM10L1_chr12_11166194_11181016 | 11168213 | GAAGAAAG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp1 HG01934.hp1 HG02257.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0037 | a0001c0002t0002g0000 a0001c0002t0037g0000 |
10 | 397 | 0.0252 | -8 | c.-31 others(19): Show |
SMIM10L1 | ENSG00000256537.5 | transcript | ENST00000622602.2 | protein_coding | 2980 | chr12 | TogoVar | |||||||
SMIM10L1_chr12_11166194_11181016 | 11168299 | AGAAGGAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01433.hp1 HG02602.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0000 a0001c0001t0009g0000 |
4 | 397 | 0.0101 | -8 | c.-30 others(19): Show |
SMIM10L1 | ENSG00000256537.5 | transcript | ENST00000622602.2 | protein_coding | 2894 | chr12 | TogoVar | |||||||
SMIM10L1_chr12_11166194_11181016 | 11168368 | AAAAGAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01433.hp2 HG03225.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0039 | a0001c0001t0001g0000 a0001c0002t0002g0000 a0001c0002t0039g0000 |
5 | 397 | 0.0126 | -8 | c.-29 others(19): Show |
SMIM10L1 | ENSG00000256537.5 | transcript | ENST00000622602.2 | protein_coding | 2825 | chr12 | TogoVar | |||||||
SMIM10_chrX_134985991_134997473 | 134986639 | TTTTCTTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 322 | 0.0031 | -8 | c.-44 others(19): Show |
SMIM10 | ENSG00000184785.6 | transcript | ENST00000330288.6 | protein_coding | 4351 | chrX | TogoVar | |||||||
SMIM10_chrX_134985991_134997473 | 134986702 | TCTTTTTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG02809.hp2 HG03486.hp2 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0006g0000 |
3 | 322 | 0.0093 | -8 | c.-43 others(19): Show |
SMIM10 | ENSG00000184785.6 | transcript | ENST00000330288.6 | protein_coding | 4288 | chrX | TogoVar | |||||||
SMIM10_chrX_134985991_134997473 | 134986709 | TCTTCCTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00741.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(1): Show |
23 | 322 | 0.0714 | -8 | c.-43 others(19): Show |
SMIM10 | ENSG00000184785.6 | transcript | ENST00000330288.6 | protein_coding | 4281 | chrX | TogoVar | |||||||
SMIM10_chrX_134985991_134997473 | 134986761 | CCTTCCTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0000 | 1 | 322 | 0.0031 | -8 | c.-43 others(19): Show |
SMIM10 | ENSG00000184785.6 | transcript | ENST00000330288.6 | protein_coding | 4229 | chrX | TogoVar | |||||||
SMIM12_chr1_34845362_34864749 | 34849983 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(57): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0009others(29): Show | a0001c0001t0005g0008 a0001c0001t0005g0014 a0001c0001t0005g0094 others(36): Show |
60 | 382 | 0.1571 | -8 | c.*57 others(19): Show |
SMIM12 | ENSG00000163866.9 | transcript | ENST00000521580.3 | protein_coding | 378 | chr1 | TogoVar | |||||||
SMIM13_chr6_11088834_11143733 | 11090459 | CATATATA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(118): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0019 others(97): Show |
121 | 400 | 0.3025 | -8 | c.-38 others(19): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 3374 | chr6 | TogoVar | |||||||
SMIM14_chr4_39541336_39643865 | 39576684 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01109.hp2 HG02615.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(1): Show | a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0195 others(6): Show |
9 | 344 | 0.0262 | -8 | c.76- others(23): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
SMIM14_chr4_39541336_39643865 | 39632775 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG00733.hp1 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 others(37): Show |
40 | 344 | 0.1163 | -8 | c.-36 others(25): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
SMIM17_chr19_56638159_56662247 | 56648051 | TTCCATCC others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp2 others(63): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0019 a0001c0001t0001g0054 a0001c0001t0001g0162 others(40): Show |
66 | 418 | 0.1579 | -8 | c.246 others(23): Show |
SMIM17 | ENSG00000268182.6 | transcript | ENST00000598409.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SMIM17_chr19_56638159_56662247 | 56648131 | TATCCATC others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp2 HG01109.hp2 others(19): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(7): Show | a0001c0001t0002g0057 a0001c0001t0002g0098 a0001c0001t0002g0099 others(17): Show |
22 | 418 | 0.0526 | -8 | c.246 others(23): Show |
SMIM17 | ENSG00000268182.6 | transcript | ENST00000598409.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SMIM21_chr18_75404476_75432703 | 75414075 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp1 others(149): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(71): Show |
152 | 432 | 0.3519 | -8 | c.261 others(25): Show |
SMIM21 | ENSG00000206026.7 | transcript | ENST00000579022.5 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
SMIM23_chr5_171780817_171796136 | 171787004 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00741.hp2 HG01099.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0055 a0001c0001t0001g0056 others(2): Show |
31 | 430 | 0.0721 | -8 | c.105 others(25): Show |
SMIM23 | ENSG00000185662.11 | transcript | ENST00000523047.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SMIM24_chr19_3468986_3485525 | 3476854 | TGATGGAT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(268): Show |
a0001a0003a0004others(4): Show | a0001c0001a0003c0003a0004c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0014 others(58): Show |
271 | 422 | 0.6422 | -8 | c.239 others(25): Show |
SMIM24 | ENSG00000095932.7 | transcript | ENST00000215531.6 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
SMIM24_chr19_3468986_3485525 | 3477268 | GTGGATGG others(1): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG02717.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0011 | a0001c0001t0006g0011 a0001c0001t0006g0023 a0001c0001t0008g0054 others(2): Show |
13 | 422 | 0.0308 | -8 | c.239 others(25): Show |
SMIM24 | ENSG00000095932.7 | transcript | ENST00000215531.6 | protein_coding | 3/3 | chr19 | TogoVar |