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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAM174B_chr15_92612448_92660775 | 92631315 | TAATATTA others(14): Show |
T | intron_variant | MODIFIER | HG01099.hp2 NA19002.hp1 NA19079.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006 | a0001c0001t0002g0116 a0001c0001t0003g0121 a0001c0001t0006g0268 others(1): Show |
4 | 387 | 0.0103 | -21 | c.345 others(36): Show |
FAM174B | ENSG00000185442.13 | transcript | ENST00000327355.6 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
FAM177B_chr1_222732202_222756004 | 222733076 | CTTTTTTT others(14): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(34): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0008 | a0002c0002t0002g0005 a0002c0002t0002g0016 a0002c0002t0002g0044 others(16): Show |
37 | 357 | 0.1036 | -21 | c.-43 others(32): Show |
FAM177B | ENSG00000197520.11 | transcript | ENST00000445590.4 | protein_coding | 4125 | chr1 | TogoVar | |||||||
FAM178B_chr2_96870885_96991580 | 96905840 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 237 | 0.0042 | -21 | c.156 others(40): Show |
FAM178B | ENSG00000168754.15 | transcript | ENST00000490605.3 | protein_coding | 12/16 | chr2 | TogoVar | |||||||
FAM178B_chr2_96870885_96991580 | 96905848 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02630.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0242 | 1 | 243 | 0.0041 | -21 | c.156 others(40): Show |
FAM178B | ENSG00000168754.15 | transcript | ENST00000490605.3 | protein_coding | 12/16 | chr2 | TogoVar | |||||||
FAM178B_chr2_96870885_96991580 | 96905850 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0244 | 1 | 224 | 0.0045 | -21 | c.156 others(40): Show |
FAM178B | ENSG00000168754.15 | transcript | ENST00000490605.3 | protein_coding | 12/16 | chr2 | TogoVar | |||||||
FAM178B_chr2_96870885_96991580 | 96987178 | CAAAAAAA others(14): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02647.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0015 | a0001c0001t0001a0002c0015t0003 | a0001c0001t0001g0042 a0001c0001t0001g0088 a0001c0001t0001g0107 others(4): Show |
7 | 17 | 0.4118 | -21 | c.-88 others(30): Show |
FAM178B | ENSG00000168754.15 | transcript | ENST00000490605.3 | protein_coding | 599 | chr2 | TogoVar | |||||||
FAM184B_chr4_17624306_17786621 | 17632043 | ATTTTTTT others(14): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03491.hp1 HG03831.hp2 HG04199.hp2 |
a0001 | a0001c0003a0001c0006 | a0001c0003t0002a0001c0006t0003 | a0001c0003t0002g0099 a0001c0006t0003g0014 a0001c0006t0003g0015 |
3 | 4 | 0.7500 | -21 | c.*46 others(30): Show |
FAM184B | ENSG00000047662.5 | transcript | ENST00000265018.4 | protein_coding | 18/18 | 468 | chr4 | TogoVar | ||||||
FAM186A_chr12_50322309_50401609 | 50378568 | ATATATAC others(14): Show |
A | intron_variant | MODIFIER | HG01346.hp2 HG01884.hp2 HG02165.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0072 a0002c0002t0001g0117 a0002c0002t0001g0118 others(8): Show |
11 | 330 | 0.0333 | -21 | c.193 others(40): Show |
FAM186A | ENSG00000185958.10 | transcript | ENST00000327337.6 | protein_coding | 1/7 | chr12 | TogoVar | |||||||
FAM20A_chr17_68530116_68606367 | 68581448 | CTTTTCTT others(14): Show |
C | intron_variant | MODIFIER | HG03195.hp1 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0079 | 1 | 378 | 0.0026 | -21 | c.404 others(40): Show |
FAM20A | ENSG00000108950.12 | transcript | ENST00000592554.2 | protein_coding | 1/10 | chr17 | TogoVar | |||||||
FAM210A_chr18_13658347_13731558 | 13659830 | AAAAAAAA others(14): Show |
A | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0049 | a0001c0001t0026g0296 a0001c0001t0026g0297 a0001c0001t0049g0298 |
3 | 319 | 0.0094 | -21 | c.*66 others(32): Show |
FAM210A | ENSG00000177150.13 | transcript | ENST00000651643.1 | protein_coding | 3516 | chr18 | TogoVar | |||||||
FAM210A_chr18_13658347_13731558 | 13659832 | AAAAAAAA others(14): Show |
A | downstream_gene_variant | MODIFIER | HG01106.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0229 |
2 | 309 | 0.0065 | -21 | c.*66 others(32): Show |
FAM210A | ENSG00000177150.13 | transcript | ENST00000651643.1 | protein_coding | 3514 | chr18 | TogoVar | |||||||
FAM210A_chr18_13658347_13731558 | 13659834 | AAAAAAAT others(14): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG01106.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 others(9): Show |
12 | 305 | 0.0393 | -21 | c.*66 others(32): Show |
FAM210A | ENSG00000177150.13 | transcript | ENST00000651643.1 | protein_coding | 3512 | chr18 | TogoVar | |||||||
FAM210A_chr18_13658347_13731558 | 13659836 | AAAAATAT others(14): Show |
A | downstream_gene_variant | MODIFIER | HG00597.hp2 HG02083.hp1 HG02135.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0137 a0001c0001t0001g0151 a0001c0001t0001g0152 others(4): Show |
7 | 320 | 0.0219 | -21 | c.*66 others(32): Show |
FAM210A | ENSG00000177150.13 | transcript | ENST00000651643.1 | protein_coding | 3510 | chr18 | TogoVar | |||||||
FAM210A_chr18_13658347_13731558 | 13659838 | AAATATAT others(14): Show |
A | downstream_gene_variant | MODIFIER | HG03209.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0019 a0001c0001t0014g0269 |
2 | 320 | 0.0063 | -21 | c.*66 others(32): Show |
FAM210A | ENSG00000177150.13 | transcript | ENST00000651643.1 | protein_coding | 3508 | chr18 | TogoVar | |||||||
FAM210A_chr18_13658347_13731558 | 13728325 | TTTTTTTG others(14): Show |
T | upstream_gene_variant | MODIFIER | HG01168.hp1 HG01175.hp2 HG01261.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0001g0020 a0001c0001t0001g0260 a0001c0001t0001g0261 others(13): Show |
17 | 321 | 0.0530 | -21 | c.-20 others(32): Show |
FAM210A | ENSG00000177150.13 | transcript | ENST00000651643.1 | protein_coding | 1768 | chr18 | TogoVar | |||||||
FAM221B_chr9_35811391_35833732 | 35828320 | AACAACAA others(14): Show |
A | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0013 | a0001c0013t0002 | a0001c0013t0002g0131 | 1 | 409 | 0.0024 | -21 | c.-1+ others(34): Show |
FAM221B | ENSG00000204930.10 | transcript | ENST00000423537.7 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
FAM221B_chr9_35811391_35833732 | 35828329 | AACAACTA others(14): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG03225.hp1 |
a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0038 | 2 | 407 | 0.0049 | -21 | c.-1+ others(34): Show |
FAM221B | ENSG00000204930.10 | transcript | ENST00000423537.7 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
FAM227B_chr15_49321970_49625818 | 49489803 | TTATATAT others(14): Show |
T | intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 227 | 0.0044 | -21 | c.101 others(42): Show |
FAM227B | ENSG00000166262.16 | transcript | ENST00000299338.11 | protein_coding | 11/15 | chr15 | TogoVar | |||||||
FAM227B_chr15_49321970_49625818 | 49489841 | TTATATAT others(14): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01074.hp2 HG01099.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0001g0047 others(10): Show |
13 | 283 | 0.0459 | -21 | c.101 others(42): Show |
FAM227B | ENSG00000166262.16 | transcript | ENST00000299338.11 | protein_coding | 11/15 | chr15 | TogoVar | |||||||
FAM234B_chr12_13039381_13088449 | 13078960 | CTGCCCAA others(14): Show |
C | intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 422 | 0.0024 | -21 | c.164 others(38): Show |
FAM234B | ENSG00000084444.14 | transcript | ENST00000197268.13 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FAM25A_chr10_87015294_87029730 | 87016702 | AAATAATA others(14): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02630.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008 | 2 | 157 | 0.0127 | -21 | c.-36 others(32): Show |
FAM25A | ENSG00000188100.9 | transcript | ENST00000343959.5 | protein_coding | 3591 | chr10 | TogoVar | |||||||
FAM3A_chrX_154501171_154521232 | 154512227 | CAATAATA others(14): Show |
C | intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 42 | 0.0238 | -21 | c.128 others(36): Show |
FAM3A | ENSG00000071889.17 | transcript | ENST00000447601.7 | protein_coding | 2/8 | chrX | TogoVar | |||||||
FAM72C_chr1_143950287_143976986 | 143951896 | ATTTGTGT others(14): Show |
A | downstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 248 | 0.0040 | -21 | c.*44 others(32): Show |
FAM72C | ENSG00000263513.6 | transcript | ENST00000584486.6 | protein_coding | 3390 | chr1 | TogoVar | |||||||
FAM78A_chr9_131253078_131281510 | 131256300 | ACACACAC others(14): Show |
A | downstream_gene_variant | MODIFIER | HG01978.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0004 | a0001c0001t0008g0216 a0001c0002t0004g0132 |
2 | 416 | 0.0048 | -21 | c.*45 others(32): Show |
FAM78A | ENSG00000126882.14 | transcript | ENST00000372271.4 | protein_coding | 1777 | chr9 | TogoVar | |||||||
FAM83E_chr19_48594961_48620076 | 48602705 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG01346.hp2 HG02572.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0001g0130 others(1): Show |
4 | 287 | 0.0139 | -21 | c.117 others(38): Show |
FAM83E | ENSG00000105523.4 | transcript | ENST00000263266.4 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
FAM86B2_chr8_12419421_12441400 | 12431528 | AAAAATAT others(14): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG01496.hp1 HG01884.hp2 others(3): Show |
a0008a0009a0010others(1): Show | a0008c0009a0009c0008a0010c0016others(1): Show | a0008c0009t0003a0009c0008t0012a0009c0008t0013others(2): Show | a0008c0009t0003g0006 a0008c0009t0003g0010 a0009c0008t0012g0009 others(3): Show |
6 | 47 | 0.1277 | -21 | c.240 others(36): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | TogoVar | |||||||
FAM98C_chr19_38398093_38414084 | 38412083 | TTTGTTGT others(14): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(80): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0018others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(22): Show |
83 | 153 | 0.5425 | -21 | c.*32 others(32): Show |
FAM98C | ENSG00000130244.13 | transcript | ENST00000252530.10 | protein_coding | 3000 | chr19 | TogoVar | |||||||
FAM9B_chrX_9019232_9039127 | 9023187 | ATATAATA others(14): Show |
A | downstream_gene_variant | MODIFIER | HG02647.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 256 | 0.0078 | -21 | c.*22 others(32): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 1044 | chrX | TogoVar | |||||||
FANCD2OS_chr3_10098937_10113255 | 10105770 | AATTATAT others(14): Show |
A | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 260 | 0.0038 | -21 | c.-8- others(35): Show |
FANCD2OS | ENSG00000163705.13 | transcript | ENST00000450660.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
FANCD2_chr3_10021437_10106932 | 10105770 | AATTATAT others(14): Show |
A | downstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0065 | 1 | 193 | 0.0052 | -21 | c.*45 others(32): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 3839 | chr3 | TogoVar | |||||||
FANCL_chr2_58154247_58246325 | 58219162 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 369 | 0.0027 | -21 | c.374 others(38): Show |
FANCL | ENSG00000115392.13 | transcript | ENST00000233741.9 | protein_coding | 5/13 | chr2 | TogoVar | |||||||
FANK1_chr10_125891564_126014592 | 125897998 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG01123.hp2 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0352 a0001c0001t0001g0353 |
2 | 184 | 0.0109 | -21 | c.13+ others(36): Show |
FANK1 | ENSG00000203780.12 | transcript | ENST00000368693.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
FARP1_chr13_98138094_98460176 | 98287208 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG02074.hp1 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0069 | a0001c0001t0005g0053 a0001c0001t0069g0075 |
2 | 14 | 0.1429 | -21 | c.172 others(40): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FARP1_chr13_98138094_98460176 | 98424171 | ACCCATCT others(14): Show |
A | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0161 | 1 | 216 | 0.0046 | -21 | c.182 others(38): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 16/26 | chr13 | TogoVar | |||||||
FARP2_chr2_241351285_241499841 | 241402860 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02735.hp1 |
a0007a0013 | a0007c0028a0013c0031 | a0007c0028t0001a0013c0031t0001 | a0007c0028t0001g0018 a0013c0031t0001g0019 |
2 | 341 | 0.0059 | -21 | c.184 others(36): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5341215 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 154 | 0.0065 | -21 | c.-21 others(40): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5341217 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG03098.hp1 HG03225.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0116 |
3 | 165 | 0.0182 | -21 | c.-21 others(40): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5341221 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0117 | 1 | 164 | 0.0061 | -21 | c.-21 others(40): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5399127 | TTTATTAT others(14): Show |
T | intron_variant | MODIFIER | HG02293.hp2 HG02809.hp2 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 a0001c0001t0002g0132 a0001c0001t0002g0133 others(1): Show |
4 | 99 | 0.0404 | -21 | c.613 others(38): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5715099 | AATATATC others(14): Show |
A | intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 | 1 | 168 | 0.0060 | -21 | c.121 others(42): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 6/6 | chr6 | TogoVar | |||||||
FAT4_chr4_125309955_125497932 | 125386355 | GCAACCTC others(14): Show |
G | intron_variant | MODIFIER | NA18987.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0085 | 1 | 318 | 0.0031 | -21 | c.517 others(42): Show |
FAT4 | ENSG00000196159.14 | transcript | ENST00000394329.9 | protein_coding | 2/17 | chr4 | TogoVar | |||||||
FAT4_chr4_125309955_125497932 | 125422369 | AATTGTGG others(14): Show |
A | intron_variant | MODIFIER | NA18979.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0290 | 1 | 318 | 0.0031 | -21 | c.701 others(40): Show |
FAT4 | ENSG00000196159.14 | transcript | ENST00000394329.9 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FBLL1_chr5_168524305_168535634 | 168524968 | ATATATAT others(14): Show |
A | upstream_gene_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0000 | 1 | 434 | 0.0023 | -21 | c.-45 others(32): Show |
FBLL1 | ENSG00000188573.8 | transcript | ENST00000338333.5 | protein_coding | 4336 | chr5 | TogoVar | |||||||
FBLN7_chr2_112133385_112193218 | 112138842 | CCCTCCCG others(14): Show |
C | intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 344 | 0.0029 | -21 | c.75+ others(34): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FBN1_chr15_48403313_48650709 | 48469091 | TATAAAAT others(14): Show |
T | intron_variant | MODIFIER | HG02056.hp2 HG02165.hp2 NA18943.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0005a0002c0003t0005 | a0001c0001t0005g0218 a0001c0001t0005g0219 a0002c0003t0005g0174 |
3 | 286 | 0.0105 | -21 | c.446 others(38): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 36/65 | chr15 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128310384 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG03927.hp2 NA18964.hp1 NA18986.hp2 |
a0003 | a0003c0002 | a0003c0002t0001a0003c0002t0002 | a0003c0002t0001g0209 a0003c0002t0001g0214 a0003c0002t0002g0067 |
3 | 232 | 0.0129 | -21 | c.507 others(38): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128310386 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG01074.hp2 HG01358.hp2 others(18): Show |
a0002a0003 | a0002c0006a0002c0013a0003c0002others(1): Show | a0002c0006t0004a0002c0013t0007a0003c0002t0001others(5): Show | a0002c0006t0004g0052 a0002c0013t0007g0203 a0003c0002t0001g0131 others(18): Show |
21 | 229 | 0.0917 | -21 | c.507 others(38): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128310388 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG01975.hp2 HG02523.hp2 HG02572.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0002c0010others(1): Show | a0001c0001t0001a0001c0008t0029a0002c0010t0024others(1): Show | a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0008t0029g0116 others(4): Show |
7 | 200 | 0.0350 | -21 | c.507 others(38): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128310390 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02258.hp2 NA19240.hp2 |
a0002a0003 | a0002c0010a0003c0039 | a0002c0010t0002a0003c0039t0005 | a0002c0010t0002g0098 a0003c0039t0005g0032 |
2 | 218 | 0.0092 | -21 | c.507 others(38): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 39/64 | chr5 | TogoVar | |||||||
FBRSL1_chr12_132485151_132590188 | 132531655 | TTGGCGTT others(14): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01255.hp2 HG01257.hp2 others(3): Show |
a0003a0015 | a0003c0001a0015c0017 | a0003c0001t0002a0003c0001t0010a0003c0001t0014others(1): Show | a0003c0001t0002g0157 a0003c0001t0010g0165 a0003c0001t0010g0166 others(3): Show |
6 | 325 | 0.0185 | -21 | c.615 others(38): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |