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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMG6_chr17_2054843_2308785 | 2230331 | AAAAAAG | A | intron_variant | MODIFIER | HG00609.hp2 HG00741.hp2 HG01070.hp1 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(7): Show | a0001c0001t0001g0273 a0002c0002t0001g0126 a0002c0002t0001g0127 others(13): Show |
16 | 278 | 0.0576 | -6 | c.286 others(25): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 10/18 | chr17 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2236701 | TCACACA | T | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00597.hp1 others(50): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0020a0001c0023others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0211 a0001c0001t0001g0240 a0001c0001t0001g0249 others(50): Show |
53 | 278 | 0.1907 | -6 | c.272 others(21): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 9/18 | chr17 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2286923 | ATTTTTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00597.hp2 others(53): Show |
a0002a0004a0005others(3): Show | a0002c0002a0002c0012a0002c0034others(5): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0005others(12): Show | a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0017 others(53): Show |
56 | 278 | 0.2014 | -6 | c.233 others(25): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 6/18 | chr17 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2289941 | CATATAT | C | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02258.hp2 others(2): Show |
a0009a0010a0018 | a0009c0008a0010c0011a0018c0016 | a0009c0008t0003a0009c0008t0009a0010c0011t0010others(1): Show | a0009c0008t0003g0222 a0009c0008t0003g0223 a0009c0008t0009g0224 others(2): Show |
5 | 278 | 0.0180 | -6 | c.233 others(25): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 6/18 | chr17 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2301827 | TACTTAC | T | intron_variant | MODIFIER | HG02615.hp1 HG02809.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0131 a0001c0001t0006g0132 a0001c0001t0006g0133 |
3 | 278 | 0.0108 | -6 | c.89- others(21): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SMG7_chr1_183467499_183559191 | 183542927 | ATGTGTG | A | intron_variant | MODIFIER | HG02257.hp1 HG02486.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0173 others(1): Show |
4 | 360 | 0.0111 | -6 | c.184 others(23): Show |
SMG7 | ENSG00000116698.22 | transcript | ENST00000688051.1 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMG7_chr1_183467499_183559191 | 183552375 | ATTATTC | A | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00609.hp2 others(65): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0008a0002c0002t0012 | a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0008 others(57): Show |
68 | 360 | 0.1889 | -6 | c.*44 others(15): Show |
SMG7 | ENSG00000116698.22 | transcript | ENST00000688051.1 | protein_coding | 23/23 | 448 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SMG8_chr17_59205035_59220230 | 59209538 | CTTTTTT | C | upstream_gene_variant | MODIFIER | HG00621.hp1 HG02965.hp2 HG03516.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0002c0004t0001g0001 |
6 | 394 | 0.0152 | -6 | c.-51 others(15): Show |
SMG8 | ENSG00000167447.13 | transcript | ENST00000300917.10 | protein_coding | 496 | chr17 | TogoVar | |||||||
SMG8_chr17_59205035_59220230 | 59215369 | GTTTTTT | G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG01106.hp2 others(33): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0004others(1): Show | a0001c0001t0001a0001c0005t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(3): Show |
36 | 394 | 0.0914 | -6 | c.*36 others(15): Show |
SMG8 | ENSG00000167447.13 | transcript | ENST00000300917.10 | protein_coding | 140 | chr17 | TogoVar | |||||||
SMG9_chr19_43722983_43759962 | 43724826 | TATATAC | T | downstream_gene_variant | MODIFIER | HG00323.hp2 NA18994.hp2 NA19010.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0027 a0001c0001t0002g0011 a0001c0001t0007g0169 others(1): Show |
4 | 320 | 0.0125 | -6 | c.*67 others(17): Show |
SMG9 | ENSG00000105771.14 | transcript | ENST00000270066.11 | protein_coding | 3156 | chr19 | TogoVar | |||||||
SMG9_chr19_43722983_43759962 | 43725024 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00621.hp2 HG01167.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0172 others(16): Show |
24 | 320 | 0.0750 | -6 | c.*65 others(17): Show |
SMG9 | ENSG00000105771.14 | transcript | ENST00000270066.11 | protein_coding | 2958 | chr19 | TogoVar | |||||||
SMG9_chr19_43722983_43759962 | 43757207 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(74): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(22): Show | a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0011 others(59): Show |
77 | 320 | 0.2406 | -6 | c.-25 others(17): Show |
SMG9 | ENSG00000105771.14 | transcript | ENST00000270066.11 | protein_coding | 2246 | chr19 | TogoVar | |||||||
SMIM10L1_chr12_11166194_11181016 | 11168207 | AAGAAAG | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG01168.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0024a0001c0001t0025 | a0001c0001t0004g0000 a0001c0001t0024g0000 a0001c0001t0025g0000 |
33 | 397 | 0.0831 | -6 | c.-31 others(17): Show |
SMIM10L1 | ENSG00000256537.5 | transcript | ENST00000622602.2 | protein_coding | 2986 | chr12 | TogoVar | |||||||
SMIM10L1_chr12_11166194_11181016 | 11170906 | CTAATAT | C | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01074.hp2 HG01891.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0000 | 7 | 397 | 0.0176 | -6 | c.-45 others(15): Show |
SMIM10L1 | ENSG00000256537.5 | transcript | ENST00000622602.2 | protein_coding | 287 | chr12 | TogoVar | |||||||
SMIM10_chrX_134985991_134997473 | 134986712 | TCCTTCC | T | upstream_gene_variant | MODIFIER | HG00423.hp2 HG01255.hp1 HG03130.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005 | a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 |
5 | 322 | 0.0155 | -6 | c.-43 others(17): Show |
SMIM10 | ENSG00000184785.6 | transcript | ENST00000330288.6 | protein_coding | 4278 | chrX | TogoVar | |||||||
SMIM10_chrX_134985991_134997473 | 134986716 | TCCTTCC | T | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG01934.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 others(4): Show |
33 | 322 | 0.1025 | -6 | c.-43 others(17): Show |
SMIM10 | ENSG00000184785.6 | transcript | ENST00000330288.6 | protein_coding | 4274 | chrX | TogoVar | |||||||
SMIM10_chrX_134985991_134997473 | 134995297 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00621.hp1 HG00735.hp1 others(99): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0007g0000 others(2): Show |
102 | 322 | 0.3168 | -6 | c.*39 others(17): Show |
SMIM10 | ENSG00000184785.6 | transcript | ENST00000330288.6 | protein_coding | 2825 | chrX | TogoVar | |||||||
SMIM13_chr6_11088834_11143733 | 11090459 | CATATAT | C | upstream_gene_variant | MODIFIER | HG02451.hp1 HG03579.hp2 NA18940.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0008 | a0001c0001t0002g0129 a0001c0001t0007g0276 a0001c0001t0008g0001 others(1): Show |
5 | 400 | 0.0125 | -6 | c.-38 others(17): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 3374 | chr6 | TogoVar | |||||||
SMIM14_chr4_39541336_39643865 | 39576684 | ATTTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00558.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0120 others(28): Show |
31 | 344 | 0.0901 | -6 | c.76- others(21): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
SMIM14_chr4_39541336_39643865 | 39587495 | CAAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG01256.hp1 HG01257.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0152 a0001c0001t0002g0263 a0001c0001t0003g0153 others(4): Show |
7 | 344 | 0.0204 | -6 | c.76- others(23): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
SMIM14_chr4_39541336_39643865 | 39632775 | TCACACA | T | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00558.hp1 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(52): Show |
55 | 344 | 0.1599 | -6 | c.-36 others(23): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
SMIM14_chr4_39541336_39643865 | 39643276 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00544.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0110 others(33): Show |
36 | 344 | 0.1047 | -6 | c.-45 others(17): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 4412 | chr4 | TogoVar | |||||||
SMIM15_chr5_61152704_61167468 | 61154788 | GTTTTGA | G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(203): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0034 others(32): Show |
206 | 366 | 0.5628 | -6 | c.*51 others(17): Show |
SMIM15 | ENSG00000188725.8 | transcript | ENST00000339020.8 | protein_coding | 2915 | chr5 | TogoVar | |||||||
SMIM1_chr1_3767749_3780956 | 3774675 | ACCCCGG | A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00544.hp1 others(104): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0025 others(3): Show |
107 | 420 | 0.2548 | -6 | c.-75 others(21): Show |
SMIM1 | ENSG00000235169.11 | transcript | ENST00000642557.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMIM21_chr18_75404476_75432703 | 75414092 | CACACAT | C | intron_variant | MODIFIER | HG01074.hp1 HG01255.hp1 HG01884.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0042 a0001c0001t0001g0096 a0001c0001t0001g0099 others(5): Show |
9 | 432 | 0.0208 | -6 | c.261 others(23): Show |
SMIM21 | ENSG00000206026.7 | transcript | ENST00000579022.5 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
SMIM21_chr18_75404476_75432703 | 75426631 | TAAAAAA | T | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00621.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0016 | a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0001g0046 others(7): Show |
21 | 432 | 0.0486 | -6 | c.129 others(21): Show |
SMIM21 | ENSG00000206026.7 | transcript | ENST00000579022.5 | protein_coding | 1/2 | chr18 | TogoVar | |||||||
SMIM26_chr20_18562432_18574560 | 18564131 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(237): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 others(4): Show |
240 | 440 | 0.5455 | -6 | c.-33 others(17): Show |
SMIM26 | ENSG00000232388.5 | transcript | ENST00000411646.2 | protein_coding | 3300 | chr20 | TogoVar | |||||||
SMIM26_chr20_18562432_18574560 | 18573913 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00597.hp2 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 |
48 | 440 | 0.1091 | -6 | c.*45 others(17): Show |
SMIM26 | ENSG00000232388.5 | transcript | ENST00000411646.2 | protein_coding | 4354 | chr20 | TogoVar | |||||||
SMIM31_chr4_164749131_164808795 | 164753450 | CTAAAAA | C | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02630.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0021a0001c0001t0022 | a0001c0001t0020g0154 a0001c0001t0021g0155 a0001c0001t0022g0156 |
3 | 364 | 0.0082 | -6 | c.-98 others(15): Show |
SMIM31 | ENSG00000248771.5 | transcript | ENST00000507311.1 | protein_coding | 680 | chr4 | TogoVar | |||||||
SMIM31_chr4_164749131_164808795 | 164769729 | AAAACTT | A | intron_variant | MODIFIER | HG01884.hp2 HG02717.hp2 HG02723.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(4): Show | a0001c0001t0002g0270 a0001c0001t0003g0272 a0001c0001t0003g0273 others(6): Show |
9 | 364 | 0.0247 | -6 | c.-25 others(21): Show |
SMIM31 | ENSG00000248771.5 | transcript | ENST00000507311.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SMIM31_chr4_164749131_164808795 | 164781129 | TACACAC | T | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02647.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(1): Show | a0001c0001t0001g0029 a0001c0001t0001g0269 a0001c0001t0001g0277 others(4): Show |
7 | 364 | 0.0192 | -6 | c.112 others(25): Show |
SMIM31 | ENSG00000248771.5 | transcript | ENST00000507311.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SMIM31_chr4_164749131_164808795 | 164807947 | TTTTTGC | T | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG00673.hp2 others(85): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0037 others(85): Show |
88 | 364 | 0.2418 | -6 | c.*67 others(17): Show |
SMIM31 | ENSG00000248771.5 | transcript | ENST00000507311.1 | protein_coding | 4153 | chr4 | TogoVar | |||||||
SMIM35_chr11_117998634_118091963 | 118051825 | GATACTA | G | intron_variant | MODIFIER | HG00140.hp1 HG00621.hp2 HG00735.hp2 others(78): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0148 others(77): Show |
81 | 408 | 0.1985 | -6 | c.7+3 others(21): Show |
SMIM35 | ENSG00000255274.10 | transcript | ENST00000689828.1 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
SMIM35_chr11_117998634_118091963 | 118053307 | AACACAC | A | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00609.hp1 others(98): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0045 others(97): Show |
101 | 408 | 0.2476 | -6 | c.7+3 others(21): Show |
SMIM35 | ENSG00000255274.10 | transcript | ENST00000689828.1 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
SMIM35_chr11_117998634_118091963 | 118067860 | CATATAT | C | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp2 HG01975.hp2 others(11): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0009a0001c0001t0012others(5): Show | a0001c0001t0001g0292 a0001c0001t0009g0372 a0001c0001t0012g0060 others(11): Show |
14 | 408 | 0.0343 | -6 | c.7+1 others(21): Show |
SMIM35 | ENSG00000255274.10 | transcript | ENST00000689828.1 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
SMIM35_chr11_117998634_118091963 | 118078043 | AAGAAAG | A | intron_variant | MODIFIER | HG01123.hp1 HG03041.hp2 HG03540.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0175 a0001c0001t0001g0294 a0001c0001t0003g0042 others(5): Show |
8 | 408 | 0.0196 | -6 | c.7+8 others(19): Show |
SMIM35 | ENSG00000255274.10 | transcript | ENST00000689828.1 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55508431 | AATATAT | A | intron_variant | MODIFIER | HG01257.hp2 HG01891.hp2 HG02258.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0002g0322 a0001c0001t0002g0325 a0001c0001t0004g0156 others(8): Show |
11 | 340 | 0.0324 | -6 | c.*17 others(25): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMIM3_chr5_150773757_150801734 | 150774896 | AATATAT | A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG02080.hp1 others(30): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0009a0002c0002t0001 | a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0025 others(20): Show |
33 | 406 | 0.0813 | -6 | c.-40 others(17): Show |
SMIM3 | ENSG00000256235.3 | transcript | ENST00000526627.2 | protein_coding | 3860 | chr5 | TogoVar | |||||||
SMIM40_chr6_33318628_33334279 | 33324882 | CAAAAAA | C | intron_variant | MODIFIER | HG01361.hp2 HG01884.hp1 HG01884.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0001t0001g0056 others(1): Show |
19 | 383 | 0.0496 | -6 | c.*40 others(21): Show |
SMIM40 | ENSG00000286920.2 | transcript | ENST00000494082.3 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50786851 | TACACAC | T | upstream_gene_variant | MODIFIER | HG01952.hp2 HG02080.hp2 HG02572.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
15 | 352 | 0.0426 | -6 | c.-75 others(15): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 692 | chr19 | TogoVar | |||||||
SMIM7_chr19_16641148_16665144 | 16644118 | GTTTTTT | G | downstream_gene_variant | MODIFIER | HG01361.hp1 HG02257.hp2 HG02258.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0062 |
9 | 360 | 0.0250 | -6 | c.*31 others(17): Show |
SMIM7 | ENSG00000214046.9 | transcript | ENST00000487416.7 | protein_coding | 2029 | chr19 | TogoVar | |||||||
SMIM8_chr6_87317588_87347329 | 87332321 | ATATATG | A | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00642.hp1 others(46): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0010a0001c0002t0024 | a0001c0002t0003g0006 a0001c0002t0003g0010 a0001c0002t0003g0016 others(24): Show |
49 | 420 | 0.1167 | -6 | c.-24 others(23): Show |
SMIM8 | ENSG00000111850.11 | transcript | ENST00000392863.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMIM8_chr6_87317588_87347329 | 87339325 | CGTGTGT | C | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00642.hp1 others(43): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(7): Show | a0001c0001t0001g0051 a0001c0001t0001g0135 a0001c0001t0001g0157 others(27): Show |
46 | 420 | 0.1095 | -6 | c.136 others(21): Show |
SMIM8 | ENSG00000111850.11 | transcript | ENST00000392863.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMIM8_chr6_87317588_87347329 | 87339430 | GTGTGTT | G | intron_variant | MODIFIER | HG01109.hp2 HG02145.hp1 HG02486.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0020 | a0001c0001t0007g0039 a0001c0001t0007g0109 a0001c0001t0007g0110 others(3): Show |
8 | 420 | 0.0191 | -6 | c.136 others(21): Show |
SMIM8 | ENSG00000111850.11 | transcript | ENST00000392863.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMIM8_chr6_87317588_87347329 | 87339436 | TTGTGTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(159): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(13): Show | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0008 others(107): Show |
162 | 420 | 0.3857 | -6 | c.136 others(21): Show |
SMIM8 | ENSG00000111850.11 | transcript | ENST00000392863.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC1_chr14_69874416_70037366 | 69878699 | ATGTGTG | A | upstream_gene_variant | MODIFIER | HG01106.hp2 HG01255.hp1 HG01496.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 others(16): Show |
19 | 270 | 0.0704 | -6 | c.-97 others(15): Show |
SMOC1 | ENSG00000198732.11 | transcript | ENST00000361956.8 | protein_coding | 716 | chr14 | TogoVar | |||||||
SMOC1_chr14_69874416_70037366 | 69961272 | GTATATA | G | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00738.hp1 others(5): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0006a0001c0001t0026others(1): Show | a0001c0001t0001g0042 a0001c0001t0001g0091 a0001c0001t0001g0128 others(5): Show |
8 | 270 | 0.0296 | -6 | c.378 others(23): Show |
SMOC1 | ENSG00000198732.11 | transcript | ENST00000361956.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SMOC1_chr14_69874416_70037366 | 69969454 | GCAGGAA | G | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp2 HG01106.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0041 a0001c0001t0001g0087 a0001c0001t0001g0108 others(18): Show |
22 | 270 | 0.0815 | -6 | c.379 others(23): Show |
SMOC1 | ENSG00000198732.11 | transcript | ENST00000361956.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168451599 | GTCTCTC | G | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00738.hp1 others(63): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0002others(12): Show | a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0006g0128 others(63): Show |
66 | 180 | 0.3667 | -6 | c.84+ others(23): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168467136 | AACACAC | A | intron_variant | MODIFIER | HG02129.hp2 NA18943.hp1 |
a0001a0005 | a0001c0002a0005c0006 | a0001c0002t0002a0005c0006t0012 | a0001c0002t0002g0028 a0005c0006t0012g0018 |
2 | 180 | 0.0111 | -6 | c.84+ others(23): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |