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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CBL_chr11_119201339_119313149 | 119257752 | ATTC | A | intron_variant | MODIFIER | HG00642.hp1 HG01099.hp1 HG02145.hp1 others(18): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0008 | a0001c0001t0005a0001c0001t0044a0001c0002t0006others(4): Show | a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0001t0005g0021 others(18): Show |
21 | 364 | 0.0577 | -3 | c.444 others(22): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119259539 | CTTT | C | intron_variant | MODIFIER | HG02257.hp1 HG02630.hp2 HG02723.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0008a0001c0001t0010a0001c0001t0046others(1): Show | a0001c0001t0008g0342 a0001c0001t0008g0343 a0001c0001t0008g0344 others(4): Show |
7 | 364 | 0.0192 | -3 | c.444 others(22): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119279034 | CCAG | C | intron_variant | MODIFIER | HG00099.hp2 HG01261.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0055 | a0001c0001t0026g0220 a0001c0001t0026g0225 a0001c0001t0055g0194 |
3 | 364 | 0.0082 | -3 | c.143 others(20): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119283625 | CTTT | C | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02109.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013a0001c0001t0019others(3): Show | a0001c0001t0001g0101 a0001c0001t0013g0024 a0001c0001t0013g0025 others(8): Show |
11 | 364 | 0.0302 | -3 | c.143 others(22): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119309671 | TGGA | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(334): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0010 a0001c0001t0001g0049 a0001c0001t0001g0050 others(334): Show |
337 | 364 | 0.9258 | -3 | c.*98 others(14): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 1523 | chr11 | TogoVar | |||||||
CBL_chr11_119201339_119313149 | 119312056 | TCTC | T | downstream_gene_variant | MODIFIER | HG02622.hp1 HG02886.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0046 a0001c0001t0012g0047 a0001c0001t0012g0048 |
3 | 364 | 0.0082 | -3 | c.*12 others(16): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 3908 | chr11 | TogoVar | |||||||
CBR1_chr21_36065024_36078164 | 36076455 | TAAG | T | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01346.hp1 HG01515.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 4 | 430 | 0.0093 | -3 | c.*35 others(14): Show |
CBR1 | ENSG00000159228.13 | transcript | ENST00000290349.11 | protein_coding | 3292 | chr21 | TogoVar | |||||||
CBR3_chr21_36130079_36151562 | 36137027 | CAAA | C | intron_variant | MODIFIER | HG02451.hp1 HG02451.hp2 HG02622.hp2 others(3): Show |
a0002a0004a0006 | a0002c0002a0004c0006a0006c0012 | a0002c0002t0001a0004c0006t0001a0006c0012t0001 | a0002c0002t0001g0053 a0002c0002t0001g0151 a0002c0002t0001g0152 others(3): Show |
6 | 424 | 0.0142 | -3 | c.290 others(18): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CBR3_chr21_36130079_36151562 | 36141024 | AAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(136): Show |
a0001a0008 | a0001c0001a0001c0004a0001c0009others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0009t0004others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(82): Show |
139 | 424 | 0.3278 | -3 | c.397 others(20): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CBR3_chr21_36130079_36151562 | 36143879 | CAAA | C | intron_variant | MODIFIER | HG00741.hp1 HG01168.hp1 HG01168.hp2 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0173 others(7): Show |
11 | 424 | 0.0259 | -3 | c.398 others(20): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CBR4_chr4_168982590_169015255 | 169002212 | CAAA | C | splice_region_variant others(1): Show |
LOW | HG00597.hp2 HG00621.hp1 HG01099.hp1 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0027 a0001c0001t0001g0028 others(29): Show |
57 | 284 | 0.2007 | -3 | c.401 others(15): Show |
CBR4 | ENSG00000145439.12 | transcript | ENST00000306193.8 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
CBS_chr21_43048191_43080835 | 43068713 | GAAA | G | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG01257.hp1 others(23): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0003c0005 | a0001c0002t0001a0002c0003t0003a0002c0003t0004others(1): Show | a0001c0002t0001g0064 a0001c0002t0001g0143 a0002c0003t0003g0119 others(15): Show |
26 | 298 | 0.0873 | -3 | c.210 others(17): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | TogoVar | |||||||
CBS_chr21_43048191_43080835 | 43077083 | GAAA | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(81): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0053 a0001c0001t0002g0056 a0001c0001t0002g0170 others(52): Show |
84 | 298 | 0.2819 | -3 | c.-14 others(14): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1249 | chr21 | TogoVar | |||||||
CBS_chr21_43048191_43080835 | 43077793 | GCTT | G | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02559.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0005a0002c0003t0004 | a0001c0001t0005g0038 a0002c0003t0004g0016 |
5 | 298 | 0.0168 | -3 | c.-21 others(14): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1959 | chr21 | TogoVar | |||||||
CBS_chr21_43048191_43080835 | 43077813 | ATTG | A | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG01361.hp2 others(25): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(7): Show | a0001c0001t0002g0152 a0001c0001t0003g0155 a0001c0001t0003g0156 others(19): Show |
28 | 298 | 0.0940 | -3 | c.-21 others(14): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1979 | chr21 | TogoVar | |||||||
CBS_chr21_43048191_43080835 | 43079637 | TTTG | T | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG02055.hp1 others(8): Show |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0010 a0002c0003t0004g0011 a0002c0003t0004g0106 others(5): Show |
11 | 298 | 0.0369 | -3 | c.-39 others(14): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3803 | chr21 | TogoVar | |||||||
CBX1_chr17_48065059_48106478 | 48073824 | CAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(91): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(88): Show |
94 | 396 | 0.2374 | -3 | c.413 others(20): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 4/4 | chr17 | TogoVar | |||||||
CBX1_chr17_48065059_48106478 | 48082501 | CAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00642.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 others(28): Show |
31 | 396 | 0.0783 | -3 | c.-37 others(20): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CBX1_chr17_48065059_48106478 | 48093087 | AAAG | A | intron_variant | MODIFIER | HG01952.hp2 HG02055.hp1 HG02056.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 others(12): Show |
15 | 396 | 0.0379 | -3 | c.-38 others(20): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CBX1_chr17_48065059_48106478 | 48099403 | CCTA | C | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00642.hp1 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 others(43): Show |
46 | 396 | 0.1162 | -3 | c.-38 others(20): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CBX2_chr17_79773148_79792983 | 79776940 | TACA | T | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00558.hp2 NA18973.hp1 |
a0001 | a0001c0003a0001c0006 | a0001c0003t0001a0001c0006t0001 | a0001c0003t0001g0002 a0001c0003t0001g0032 a0001c0006t0001g0004 |
3 | 466 | 0.0064 | -3 | c.-12 others(14): Show |
CBX2 | ENSG00000173894.11 | transcript | ENST00000310942.9 | protein_coding | 1207 | chr17 | TogoVar | |||||||
CBX3_chr7_26196745_26218607 | 26198546 | TAAC | T | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01516.hp2 HG01517.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0019 a0001c0001t0012g0056 a0001c0001t0012g0057 others(1): Show |
6 | 410 | 0.0146 | -3 | c.-33 others(14): Show |
CBX3 | ENSG00000122565.19 | transcript | ENST00000396386.7 | protein_coding | 3198 | chr7 | TogoVar | |||||||
CBX3_chr7_26196745_26218607 | 26210691 | CAGT | C | intron_variant | MODIFIER | HG01175.hp1 HG01515.hp1 HG01515.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0027 a0001c0001t0002g0027 a0001c0001t0008g0027 |
3 | 410 | 0.0073 | -3 | c.331 others(18): Show |
CBX3 | ENSG00000122565.19 | transcript | ENST00000396386.7 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CBX3_chr7_26196745_26218607 | 26217320 | CAAA | C | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00642.hp1 HG00741.hp1 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(46): Show |
55 | 410 | 0.1342 | -3 | c.*51 others(14): Show |
CBX3 | ENSG00000122565.19 | transcript | ENST00000396386.7 | protein_coding | 3714 | chr7 | TogoVar | |||||||
CBX5_chr12_54225942_54285122 | 54234178 | CAAA | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG01167.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010a0001c0001t0012others(11): Show | a0001c0001t0007g0007 a0001c0001t0007g0024 a0001c0001t0007g0026 others(38): Show |
46 | 368 | 0.1250 | -3 | c.*75 others(14): Show |
CBX5 | ENSG00000094916.16 | transcript | ENST00000209875.9 | protein_coding | 5/5 | 7574 | chr12 | TogoVar | ||||||
CBX5_chr12_54225942_54285122 | 54250147 | CAGG | C | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0058 | a0001c0001t0003g0066 a0001c0001t0003g0108 a0001c0001t0058g0104 |
3 | 368 | 0.0082 | -3 | c.324 others(20): Show |
CBX5 | ENSG00000094916.16 | transcript | ENST00000209875.9 | protein_coding | 3/4 | chr12 | TogoVar | |||||||
CBX5_chr12_54225942_54285122 | 54250811 | CAAA | C | intron_variant | MODIFIER | HG02647.hp1 HG02897.hp2 HG02970.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009a0001c0001t0016others(5): Show | a0001c0001t0007g0317 a0001c0001t0007g0320 a0001c0001t0007g0321 others(7): Show |
10 | 368 | 0.0272 | -3 | c.324 others(20): Show |
CBX5 | ENSG00000094916.16 | transcript | ENST00000209875.9 | protein_coding | 3/4 | chr12 | TogoVar | |||||||
CBX5_chr12_54225942_54285122 | 54251516 | CAAA | C | intron_variant | MODIFIER | HG01167.hp2 HG01943.hp2 HG02145.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(8): Show | a0001c0001t0002g0124 a0001c0001t0003g0107 a0001c0001t0003g0147 others(12): Show |
15 | 368 | 0.0408 | -3 | c.324 others(18): Show |
CBX5 | ENSG00000094916.16 | transcript | ENST00000209875.9 | protein_coding | 3/4 | chr12 | TogoVar | |||||||
CBX5_chr12_54225942_54285122 | 54270140 | TTAC | T | intron_variant | MODIFIER | HG02145.hp1 HG02615.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0049 a0001c0001t0017g0050 a0001c0001t0017g0051 |
3 | 368 | 0.0082 | -3 | c.-43 others(20): Show |
CBX5 | ENSG00000094916.16 | transcript | ENST00000209875.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
CBX6_chr22_38856422_38877216 | 38875516 | CTTT | C | upstream_gene_variant | MODIFIER | HG01175.hp1 HG02145.hp2 HG02486.hp2 others(8): Show |
a0001a0008 | a0001c0001a0008c0008 | a0001c0001t0024a0001c0001t0025a0001c0001t0041others(4): Show | a0001c0001t0024g0026 a0001c0001t0025g0018 a0001c0001t0041g0050 others(4): Show |
11 | 406 | 0.0271 | -3 | c.-33 others(14): Show |
CBX6 | ENSG00000183741.12 | transcript | ENST00000407418.8 | protein_coding | 3301 | chr22 | TogoVar | |||||||
CBX7_chr22_39125772_39157680 | 39157364 | CAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01433.hp1 HG02293.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0126 others(20): Show |
31 | 380 | 0.0816 | -3 | c.-49 others(14): Show |
CBX7 | ENSG00000100307.13 | transcript | ENST00000216133.10 | protein_coding | 4685 | chr22 | TogoVar | |||||||
CBX7_chr22_39125772_39157680 | 39157455 | CATT | C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp2 others(102): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0009 others(49): Show |
105 | 380 | 0.2763 | -3 | c.-50 others(14): Show |
CBX7 | ENSG00000100307.13 | transcript | ENST00000216133.10 | protein_coding | 4776 | chr22 | TogoVar | |||||||
CBY3_chr5_179673560_179686034 | 179674561 | CTTT | C | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02572.hp1 HG02630.hp1 others(7): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0001 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0017 others(2): Show |
10 | 412 | 0.0243 | -3 | c.*40 others(14): Show |
CBY3 | ENSG00000204659.5 | transcript | ENST00000376974.5 | protein_coding | 3998 | chr5 | TogoVar | |||||||
CC2D1A_chr19_13901201_13935879 | 13911706 | ATTT | A | intron_variant | MODIFIER | HG01123.hp1 HG01884.hp1 HG02559.hp2 others(23): Show |
a0001a0002a0004others(3): Show | a0001c0006a0002c0013a0004c0005others(3): Show | a0001c0006t0001a0002c0013t0001a0004c0005t0001others(6): Show | a0001c0006t0001g0158 a0001c0006t0001g0159 a0001c0006t0001g0169 others(19): Show |
26 | 370 | 0.0703 | -3 | c.197 others(18): Show |
CC2D1A | ENSG00000132024.18 | transcript | ENST00000318003.11 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CC2D1A_chr19_13901201_13935879 | 13925932 | AAAT | A | intron_variant | MODIFIER | HG02602.hp1 HG02809.hp2 HG03098.hp2 others(3): Show |
a0001a0004 | a0001c0002a0004c0005 | a0001c0002t0001a0001c0002t0002a0004c0005t0003 | a0001c0002t0001g0216 a0001c0002t0002g0244 a0001c0002t0002g0268 others(3): Show |
6 | 370 | 0.0162 | -3 | c.194 others(20): Show |
CC2D1A | ENSG00000132024.18 | transcript | ENST00000318003.11 | protein_coding | 17/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CC2D1A_chr19_13901201_13935879 | 13925934 | ATAT | A | intron_variant | MODIFIER | HG00673.hp2 HG01168.hp2 HG01169.hp1 others(23): Show |
a0001a0023a0024 | a0001c0002a0023c0030a0024c0018 | a0001c0002t0001a0001c0002t0002a0023c0030t0002others(1): Show | a0001c0002t0001g0206 a0001c0002t0002g0005 a0001c0002t0002g0013 others(17): Show |
26 | 370 | 0.0703 | -3 | c.194 others(20): Show |
CC2D1A | ENSG00000132024.18 | transcript | ENST00000318003.11 | protein_coding | 17/28 | chr19 | TogoVar | |||||||
CC2D1B_chr1_52345597_52371205 | 52348436 | ATTT | A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00558.hp1 others(41): Show |
a0001a0003a0011others(1): Show | a0001c0001a0001c0018a0003c0003others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0003g0002 a0001c0001t0003g0020 a0001c0001t0003g0040 others(24): Show |
44 | 322 | 0.1367 | -3 | c.*47 others(14): Show |
CC2D1B | ENSG00000154222.15 | transcript | ENST00000284376.8 | protein_coding | 2160 | chr1 | TogoVar | |||||||
CC2D1B_chr1_52345597_52371205 | 52361540 | TTCC | T | disruptive_inframe_deletion | MODERATE | NA18969.hp2 NA19005.hp2 NA19064.hp1 |
a0006 | a0006c0008a0006c0010 | a0006c0008t0009a0006c0008t0029a0006c0010t0009 | a0006c0008t0009g0117 a0006c0008t0029g0116 a0006c0010t0009g0075 |
3 | 322 | 0.0093 | -3 | c.288 others(10): Show |
p.Glu others(5): Show |
CC2D1B | ENSG00000154222.15 | transcript | ENST00000284376.8 | protein_coding | 4/25 | 441/5338 | 288/2559 | 96/852 | chr1 | TogoVar | |||
CC2D2A_chr4_15464882_15606552 | 15499928 | GGGA | G | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00558.hp2 others(119): Show |
a0001a0002a0005others(6): Show | a0001c0001a0001c0004a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(16): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 others(118): Show |
122 | 344 | 0.3547 | -3 | c.248 others(20): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CC2D2A_chr4_15464882_15606552 | 15511381 | GGAA | G | conservative_inframe_deletion | MODERATE | HG00140.hp1 HG01070.hp2 HG01109.hp2 others(8): Show |
a0003 | a0003c0007a0003c0010 | a0003c0007t0002a0003c0010t0002 | a0003c0007t0002g0159 a0003c0007t0002g0160 a0003c0007t0002g0161 others(8): Show |
11 | 344 | 0.0320 | -3 | c.685 others(10): Show |
p.Glu others(6): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 8/37 | 879/5184 | 685/4863 | 229/1620 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
CC2D2A_chr4_15464882_15606552 | 15516944 | CTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(48): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0062 a0001c0001t0001g0070 others(47): Show |
51 | 344 | 0.1483 | -3 | c.114 others(20): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CC2D2A_chr4_15464882_15606552 | 15597017 | ATGT | A | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00642.hp1 others(58): Show |
a0001a0002a0016 | a0001c0001a0001c0006a0001c0015others(3): Show | a0001c0001t0001a0001c0006t0001a0001c0015t0001others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(57): Show |
61 | 344 | 0.1773 | -3 | c.443 others(20): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CC2D2A_chr4_15464882_15606552 | 15601790 | TTCC | T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(111): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0004others(16): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(17): Show | a0001c0001t0002g0016 a0001c0001t0002g0024 a0001c0001t0002g0142 others(111): Show |
114 | 344 | 0.3314 | -3 | c.*36 others(12): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 239 | chr4 | TogoVar | |||||||
CC2D2B_chr10_95902975_96038745 | 95947110 | TATA | T | intron_variant | MODIFIER | HG02040.hp1 HG02572.hp2 HG03453.hp1 |
a0002a0014a0022 | a0002c0002a0014c0017a0022c0038 | a0002c0002t0001a0014c0017t0001a0022c0038t0001 | a0002c0002t0001g0009 a0014c0017t0001g0218 a0022c0038t0001g0005 |
3 | 312 | 0.0096 | -3 | c.802 others(20): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 9/34 | chr10 | TogoVar | |||||||
CC2D2B_chr10_95902975_96038745 | 95947111 | ATAT | A | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG01975.hp1 others(12): Show |
a0001a0002a0032 | a0001c0001a0002c0002a0032c0040 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0002g0121 others(12): Show |
15 | 312 | 0.0481 | -3 | c.802 others(20): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 95947113 | ATTT | A | intron_variant | MODIFIER | HG01106.hp2 HG02109.hp1 HG02723.hp1 others(9): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0002a0006c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0114 a0001c0001t0001g0174 a0001c0001t0001g0265 others(9): Show |
12 | 312 | 0.0385 | -3 | c.802 others(20): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 95958803 | AAGG | A | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00609.hp1 others(43): Show |
a0003a0006a0009others(2): Show | a0003c0003a0006c0008a0009c0012others(2): Show | a0003c0003t0001a0003c0003t0002a0006c0008t0001others(3): Show | a0003c0003t0001g0030 a0003c0003t0001g0061 a0003c0003t0001g0065 others(43): Show |
46 | 312 | 0.1474 | -3 | c.111 others(22): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 11/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 95980414 | TTTG | T | intron_variant | MODIFIER | HG02280.hp2 HG02630.hp2 HG02970.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 others(4): Show |
7 | 312 | 0.0224 | -3 | c.194 others(22): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 17/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 95981398 | CAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00741.hp1 others(36): Show |
a0001a0003a0005others(8): Show | a0001c0001a0001c0007a0001c0027others(10): Show | a0001c0001t0001a0001c0007t0004a0001c0027t0001others(10): Show | a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0007t0004g0299 others(36): Show |
39 | 312 | 0.1250 | -3 | c.194 others(20): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 17/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 95988344 | TAAC | T | splice_region_variant others(1): Show |
LOW | HG01081.hp1 HG01243.hp1 HG01884.hp2 others(8): Show |
a0001a0003a0010others(2): Show | a0001c0001a0003c0003a0010c0011others(3): Show | a0001c0001t0002a0003c0003t0002a0010c0011t0002others(3): Show | a0001c0001t0002g0003 a0001c0001t0002g0272 a0001c0001t0002g0273 others(8): Show |
11 | 312 | 0.0353 | -3 | c.237 others(16): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |