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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAM135B_chr8_138125023_138502261 | 138206099 | TCCAGCAT others(20): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00673.hp1 others(41): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0004a0001c0005others(8): Show | a0001c0003t0003a0001c0003t0010a0001c0003t0018others(23): Show | a0001c0003t0003g0056 a0001c0003t0003g0077 a0001c0003t0003g0083 others(41): Show |
44 | 210 | 0.2095 | -27 | c.670 others(44): Show |
FAM135B | ENSG00000147724.12 | transcript | ENST00000395297.6 | protein_coding | 7/19 | chr8 | TogoVar | |||||||
FAM149B1_chr10_73163119_73249504 | 73204944 | ATTTTTTT others(20): Show |
A | intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 19 | 0.0526 | -27 | c.543 others(44): Show |
FAM149B1 | ENSG00000138286.15 | transcript | ENST00000242505.11 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
FAM163B_chr9_133572081_133614389 | 133590060 | CCCTTCCC others(20): Show |
C | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0071 | 1 | 337 | 0.0030 | -27 | c.-23 others(44): Show |
FAM163B | ENSG00000196990.10 | transcript | ENST00000673969.1 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
FAM171A2_chr17_44348215_44368853 | 44368126 | ATATATAT others(20): Show |
A | upstream_gene_variant | MODIFIER | NA18982.hp1 NA19083.hp2 |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0001a0006c0012t0001 | a0001c0001t0001g0003 a0006c0012t0001g0102 |
2 | 364 | 0.0055 | -27 | c.-44 others(38): Show |
FAM171A2 | ENSG00000161682.15 | transcript | ENST00000293443.12 | protein_coding | 4274 | chr17 | TogoVar | |||||||
FAM171A2_chr17_44348215_44368853 | 44368128 | ATATATAT others(20): Show |
A | upstream_gene_variant | MODIFIER | HG00438.hp2 HG02056.hp2 HG02135.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0079 a0001c0001t0001g0100 others(5): Show |
10 | 357 | 0.0280 | -27 | c.-44 others(38): Show |
FAM171A2 | ENSG00000161682.15 | transcript | ENST00000293443.12 | protein_coding | 4276 | chr17 | TogoVar | |||||||
FAM171A2_chr17_44348215_44368853 | 44368130 | ATATATAT others(20): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG01993.hp1 HG03239.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0003 | a0001c0001t0001a0001c0008t0001a0002c0003t0001 | a0001c0001t0001g0034 a0001c0001t0001g0080 a0001c0001t0001g0088 others(3): Show |
6 | 377 | 0.0159 | -27 | c.-44 others(38): Show |
FAM171A2 | ENSG00000161682.15 | transcript | ENST00000293443.12 | protein_coding | 4278 | chr17 | TogoVar | |||||||
FAM171A2_chr17_44348215_44368853 | 44368132 | ATATATAT others(20): Show |
A | upstream_gene_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 402 | 0.0025 | -27 | c.-44 others(38): Show |
FAM171A2 | ENSG00000161682.15 | transcript | ENST00000293443.12 | protein_coding | 4280 | chr17 | TogoVar | |||||||
FAM172A_chr5_93612725_94116663 | 93653511 | CAAAAAAA others(20): Show |
C | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 4 | 0.2500 | -27 | c.110 others(48): Show |
FAM172A | ENSG00000113391.19 | transcript | ENST00000395965.8 | protein_coding | 10/10 | chr5 | TogoVar | |||||||
FAM174C_chr19_1270530_1284228 | 1282621 | GGGGAGGA others(20): Show |
G | downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0019 | 1 | 252 | 0.0040 | -27 | c.*38 others(38): Show |
FAM174C | ENSG00000228300.14 | transcript | ENST00000409293.6 | protein_coding | 3394 | chr19 | TogoVar | |||||||
FAM178B_chr2_96870885_96991580 | 96905836 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0154 a0002c0002t0001g0163 |
2 | 238 | 0.0084 | -27 | c.156 others(46): Show |
FAM178B | ENSG00000168754.15 | transcript | ENST00000490605.3 | protein_coding | 12/16 | chr2 | TogoVar | |||||||
FAM178B_chr2_96870885_96991580 | 96905838 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG03710.hp1 HG04204.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0207 a0002c0002t0001g0208 |
2 | 244 | 0.0082 | -27 | c.156 others(46): Show |
FAM178B | ENSG00000168754.15 | transcript | ENST00000490605.3 | protein_coding | 12/16 | chr2 | TogoVar | |||||||
FAM178B_chr2_96870885_96991580 | 96905844 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0084 | 1 | 205 | 0.0049 | -27 | c.156 others(46): Show |
FAM178B | ENSG00000168754.15 | transcript | ENST00000490605.3 | protein_coding | 12/16 | chr2 | TogoVar | |||||||
FAM178B_chr2_96870885_96991580 | 96905846 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0007 | 1 | 230 | 0.0043 | -27 | c.156 others(46): Show |
FAM178B | ENSG00000168754.15 | transcript | ENST00000490605.3 | protein_coding | 12/16 | chr2 | TogoVar | |||||||
FAM178B_chr2_96870885_96991580 | 96958697 | TAAAAAAA others(20): Show |
T | intron_variant | MODIFIER | HG01192.hp2 NA18995.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0204 a0002c0002t0001g0219 |
2 | 22 | 0.0909 | -27 | c.887 others(44): Show |
FAM178B | ENSG00000168754.15 | transcript | ENST00000490605.3 | protein_coding | 6/16 | chr2 | TogoVar | |||||||
FAM178B_chr2_96870885_96991580 | 96987178 | CAAAAAAA others(20): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01070.hp2 HG01361.hp2 others(6): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0011a0005c0006others(1): Show | a0001c0001t0001a0003c0011t0001a0005c0006t0001others(1): Show | a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0001g0057 others(6): Show |
9 | 19 | 0.4737 | -27 | c.-89 others(36): Show |
FAM178B | ENSG00000168754.15 | transcript | ENST00000490605.3 | protein_coding | 599 | chr2 | TogoVar | |||||||
FAM184B_chr4_17624306_17786621 | 17632042 | AATTTTTT others(20): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02145.hp2 | a0024 | a0024c0052 | a0024c0052t0038 | a0024c0052t0038g0076 | 1 | 236 | 0.0042 | -27 | c.*46 others(36): Show |
FAM184B | ENSG00000047662.5 | transcript | ENST00000265018.4 | protein_coding | 18/18 | 463 | chr4 | TogoVar | ||||||
FAM184B_chr4_17624306_17786621 | 17632043 | ATTTTTTT others(20): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02109.hp1 HG02280.hp2 HG02451.hp1 others(14): Show |
a0001a0003a0004others(3): Show | a0001c0029a0003c0009a0003c0018others(7): Show | a0001c0029t0006a0003c0009t0006a0003c0018t0006others(7): Show | a0001c0029t0006g0115 a0003c0009t0006g0009 a0003c0009t0006g0133 others(14): Show |
17 | 18 | 0.9444 | -27 | c.*46 others(36): Show |
FAM184B | ENSG00000047662.5 | transcript | ENST00000265018.4 | protein_coding | 18/18 | 462 | chr4 | TogoVar | ||||||
FAM186A_chr12_50322309_50401609 | 50378562 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02155.hp1 NA18990.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0073 a0003c0003t0001g0205 |
2 | 330 | 0.0061 | -27 | c.193 others(46): Show |
FAM186A | ENSG00000185958.10 | transcript | ENST00000327337.6 | protein_coding | 1/7 | chr12 | TogoVar | |||||||
FAM187B_chr19_35219800_35233739 | 35219945 | CCACCATG others(20): Show |
C | downstream_gene_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 448 | 0.0022 | -27 | c.*48 others(38): Show |
FAM187B | ENSG00000177558.4 | transcript | ENST00000324675.4 | protein_coding | 4854 | chr19 | TogoVar | |||||||
FAM193A_chr4_2531647_2737573 | 2708364 | ATCCACCC others(20): Show |
A | intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 328 | 0.0030 | -27 | c.437 others(46): Show |
FAM193A | ENSG00000125386.16 | transcript | ENST00000637812.2 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FAM221B_chr9_35811391_35833732 | 35828320 | AACAACAA others(20): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG02109.hp2 HG02258.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 a0001c0001t0003g0132 |
9 | 417 | 0.0216 | -27 | c.-1+ others(40): Show |
FAM221B | ENSG00000204930.10 | transcript | ENST00000423537.7 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
FAM227B_chr15_49321970_49625818 | 49489858 | TTTTATAT others(20): Show |
T | intron_variant | MODIFIER | HG01517.hp1 HG02056.hp2 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0071 |
3 | 265 | 0.0113 | -27 | c.101 others(48): Show |
FAM227B | ENSG00000166262.16 | transcript | ENST00000299338.11 | protein_coding | 11/15 | chr15 | TogoVar | |||||||
FAM229B_chr6_112082591_112107790 | 112095634 | TCAAAAAA others(20): Show |
T | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0052 | 1 | 416 | 0.0024 | -27 | c.-17 others(46): Show |
FAM229B | ENSG00000203778.8 | transcript | ENST00000368656.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAM241B_chr10_69625247_69638596 | 69631991 | ACCTCCCC others(20): Show |
A | intron_variant | MODIFIER | HG01081.hp2 NA19030.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0030 a0001c0002t0002g0034 |
2 | 460 | 0.0043 | -27 | c.96+ others(40): Show |
FAM241B | ENSG00000171224.9 | transcript | ENST00000373279.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
FAM3A_chrX_154501171_154521232 | 154505398 | TCCTGGTG others(20): Show |
T | downstream_gene_variant | MODIFIER | HG02630.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0070 a0001c0001t0005g0073 |
2 | 337 | 0.0059 | -27 | c.*13 others(38): Show |
FAM3A | ENSG00000071889.17 | transcript | ENST00000447601.7 | protein_coding | 772 | chrX | TogoVar | |||||||
FAM50A_chrX_154439141_154455654 | 154454336 | AGGTCTTC others(20): Show |
A | downstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 273 | 0.0037 | -27 | c.*39 others(38): Show |
FAM50A | ENSG00000071859.15 | transcript | ENST00000393600.8 | protein_coding | 3683 | chrX | TogoVar | |||||||
FAM72A_chr1_206181179_206207839 | 206202269 | AGTGGAGT others(20): Show |
A | 5_prime_UTR_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0143 | 1 | 344 | 0.0029 | -27 | c.-27 others(36): Show |
FAM72A | ENSG00000196550.11 | transcript | ENST00000367128.8 | protein_coding | 1/4 | 245 | chr1 | TogoVar | ||||||
FAM72B_chr1_121162646_121189340 | 121183734 | AGTGGAGT others(20): Show |
A | 5_prime_UTR_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0181 | 1 | 378 | 0.0026 | -27 | c.-27 others(36): Show |
FAM72B | ENSG00000188610.12 | transcript | ENST00000369390.7 | protein_coding | 1/4 | 246 | chr1 | TogoVar | ||||||
FAM72C_chr1_143950287_143976986 | 143971385 | AGTGGAGT others(20): Show |
A | 5_prime_UTR_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0138 | 1 | 248 | 0.0040 | -27 | c.-27 others(36): Show |
FAM72C | ENSG00000263513.6 | transcript | ENST00000584486.6 | protein_coding | 1/4 | 245 | chr1 | TogoVar | ||||||
FAM72D_chr1_145090974_145117696 | 145096564 | CTTCAAAC others(20): Show |
C | 5_prime_UTR_variant | MODIFIER | NA18939.hp1 NA18986.hp2 NA18990.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0028 a0001c0001t0008g0067 a0001c0001t0008g0120 |
4 | 320 | 0.0125 | -27 | c.-27 others(36): Show |
FAM72D | ENSG00000215784.6 | transcript | ENST00000400889.3 | protein_coding | 1/4 | 245 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
FAM83E_chr19_48594961_48620076 | 48602705 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0001 | a0002c0001t0008 | a0002c0001t0008g0298 | 1 | 284 | 0.0035 | -27 | c.117 others(44): Show |
FAM83E | ENSG00000105523.4 | transcript | ENST00000263266.4 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
FAM83F_chr22_39989954_40048534 | 40007553 | CTCCTCTC others(20): Show |
C | intron_variant | MODIFIER | HG02015.hp2 HG02056.hp2 HG02074.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0014a0002c0002t0059a0002c0002t0067 | a0002c0002t0014g0176 a0002c0002t0014g0177 a0002c0002t0014g0178 others(2): Show |
5 | 227 | 0.0220 | -27 | c.490 others(46): Show |
FAM83F | ENSG00000133477.17 | transcript | ENST00000333407.11 | protein_coding | 1/4 | chr22 | TogoVar | |||||||
FAM89A_chr1_231013958_231045254 | 231033833 | AAGAACTC others(20): Show |
A | intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307 | 1 | 448 | 0.0022 | -27 | c.291 others(44): Show |
FAM89A | ENSG00000182118.8 | transcript | ENST00000366654.5 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
FAM9B_chrX_9019232_9039127 | 9023001 | TATTATAT others(20): Show |
T | downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 255 | 0.0039 | -27 | c.*23 others(38): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 1230 | chrX | TogoVar | |||||||
FAM9B_chrX_9019232_9039127 | 9023057 | TATTATAT others(20): Show |
T | downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 255 | 0.0039 | -27 | c.*23 others(38): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 1174 | chrX | TogoVar | |||||||
FAN1_chr15_30898915_30948108 | 30929837 | AATATATA others(20): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG03486.hp2 NA19043.hp2 |
a0001 | a0001c0007 | a0001c0007t0011 | a0001c0007t0011g0211 a0001c0007t0011g0212 a0001c0007t0011g0213 |
3 | 302 | 0.0099 | -27 | c.278 others(44): Show |
FAN1 | ENSG00000198690.10 | transcript | ENST00000362065.9 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
FANCL_chr2_58154247_58246325 | 58217142 | GATTTATA others(20): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG00642.hp1 HG01074.hp1 others(5): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0033 a0001c0001t0001g0257 a0001c0001t0001g0265 others(4): Show |
8 | 309 | 0.0259 | -27 | c.374 others(44): Show |
FANCL | ENSG00000115392.13 | transcript | ENST00000233741.9 | protein_coding | 5/13 | chr2 | TogoVar | |||||||
FAR2_chr12_29144278_29340616 | 29191944 | TATAGAGA others(20): Show |
T | intron_variant | MODIFIER | HG01884.hp2 NA18906.hp1 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0216 a0001c0002t0005g0217 |
2 | 324 | 0.0062 | -27 | c.-39 others(46): Show |
FAR2 | ENSG00000064763.12 | transcript | ENST00000536681.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FARP1_chr13_98138094_98460176 | 98379172 | CTATATAT others(20): Show |
C | intron_variant | MODIFIER | HG00673.hp1 NA18951.hp2 |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0063a0007c0008t0001 | a0001c0001t0063g0026 a0007c0008t0001g0029 |
2 | 215 | 0.0093 | -27 | c.496 others(44): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5341213 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 154 | 0.0065 | -27 | c.-21 others(46): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAXDC2_chr5_154813492_154855603 | 154831193 | TAAGATAT others(20): Show |
T | intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 308 | 0.0032 | -27 | c.245 others(42): Show |
FAXDC2 | ENSG00000170271.11 | transcript | ENST00000326080.10 | protein_coding | 4/8 | chr5 | TogoVar | |||||||
FBLL1_chr5_168524305_168535634 | 168524958 | ATATATAT others(20): Show |
A | upstream_gene_variant | MODIFIER | HG01928.hp2 HG02071.hp2 HG02074.hp1 others(19): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0001a0002c0007t0001 | a0002c0002t0001g0000 a0002c0007t0001g0000 |
22 | 365 | 0.0603 | -27 | c.-45 others(38): Show |
FBLL1 | ENSG00000188573.8 | transcript | ENST00000338333.5 | protein_coding | 4346 | chr5 | TogoVar | |||||||
FBLL1_chr5_168524305_168535634 | 168524960 | ATATATAT others(20): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp1 HG01175.hp1 HG02074.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 4 | 428 | 0.0093 | -27 | c.-45 others(38): Show |
FBLL1 | ENSG00000188573.8 | transcript | ENST00000338333.5 | protein_coding | 4344 | chr5 | TogoVar | |||||||
FBLN7_chr2_112133385_112193218 | 112138732 | TCAGTGTC others(20): Show |
T | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 HG02055.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0055 a0001c0001t0002g0017 a0001c0001t0002g0054 |
4 | 344 | 0.0116 | -27 | c.75+ others(38): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FBLN7_chr2_112133385_112193218 | 112138909 | CTGTCCCG others(20): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0300 | 1 | 344 | 0.0029 | -27 | c.75+ others(40): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FBLN7_chr2_112133385_112193218 | 112139261 | CCAGCGTC others(20): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0072 | 1 | 344 | 0.0029 | -27 | c.75+ others(40): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FBLN7_chr2_112133385_112193218 | 112139586 | CAGTGTCC others(20): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01346.hp2 HG01891.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(5): Show |
11 | 344 | 0.0320 | -27 | c.75+ others(40): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FBLN7_chr2_112133385_112193218 | 112139916 | GCGCCTCT others(20): Show |
G | intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 335 | 0.0030 | -27 | c.75+ others(42): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FBLN7_chr2_112133385_112193218 | 112140097 | CGTCCCTC others(20): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG02896.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 a0001c0001t0001g0146 a0001c0001t0001g0147 others(1): Show |
4 | 333 | 0.0120 | -27 | c.75+ others(42): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FBN1_chr15_48403313_48650709 | 48469085 | TATATATA others(20): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(65): Show |
a0001a0005a0009 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(14): Show | a0001c0001t0002g0098 a0001c0001t0002g0211 a0001c0001t0005g0142 others(64): Show |
68 | 286 | 0.2378 | -27 | c.446 others(44): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | TogoVar |