regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAM9B_chrX_9019232_9039127 | 9029328 | CTCT | C | disruptive_inframe_deletion | MODERATE | HG03704.hp1 NA18747.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0013 | 2 | 258 | 0.0078 | -3 | c.369 others(10): Show |
p.Glu others(6): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 6/9 | 736/2103 | 369/561 | 123/186 | chrX | TogoVar | ||
FASTKD3_chr5_7854159_7874031 | 7867364 | TATA | T | disruptive_inframe_deletion | MODERATE | HG00735.hp2 HG01256.hp1 HG01517.hp2 others(2): Show |
a0005a0010 | a0005c0005a0010c0008 | a0005c0005t0001a0010c0008t0004 | a0005c0005t0001g0016a0010c0008t0004g0034 | 5 | 462 | 0.0108 | -3 | c.717 others(10): Show |
p.Ile others(6): Show |
FASTKD3 | ENSG00000124279.12 | transcript | ENST00000264669.10 | protein_coding | 2/7 | 885/2431 | 717/1989 | 239/662 | chr5 | TogoVar | ||
FBLL1_chr5_168524305_168535634 | 168529585 | AGGC | A | disruptive_inframe_deletion | MODERATE | HG02145.hp2 HG02723.hp2 HG02976.hp2 others(2): Show |
a0004 | a0004c0004 | a0004c0004t0002a0004c0004t0006 | a0004c0004t0002g0000a0004c0004t0006g0000 | 5 | 460 | 0.0109 | -3 | c.95_ others(8): Show |
p.Gly others(5): Show |
FBLL1 | ENSG00000188573.8 | transcript | ENST00000338333.5 | protein_coding | 1/1 | 295/1330 | 95/1005 | 32/334 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
FBLN7_chr2_112133385_112193218 | 112175762 | TAGA | T | disruptive_inframe_deletion | MODERATE | HG01884.hp2 HG03041.hp2 NA18522.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0045a0003c0003t0001g0094a0003c0003t0001g0095 | 3 | 346 | 0.0087 | -3 | c.458 others(10): Show |
p.Glu others(6): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 4/8 | 729/2303 | 458/1320 | 153/439 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
FBXO11_chr2_47801920_47911498 | 47905586 | AGGCTGCT others(8): Show |
A | disruptive_inframe_deletion | MODERATE | HG02451.hp1 HG02523.hp1 |
a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0307a0004c0005t0002g0308 | 2 | 318 | 0.0063 | -15 | c.120 others(22): Show |
p.Pro others(11): Show |
FBXO11 | ENSG00000138081.22 | transcript | ENST00000403359.8 | protein_coding | 1/23 | 912/4760 | 120/2784 | 40/927 | chr2 | TogoVar | ||
FBXO2_chr1_11643387_11659429 | 11650722 | CGCG | C | disruptive_inframe_deletion | MODERATE | HG01884.hp2 HG02559.hp1 HG02647.hp1 others(8): Show |
a0004a0006 | a0004c0004a0006c0008 | a0004c0004t0001a0004c0004t0002a0006c0008t0001 | a0004c0004t0001g0037a0004c0004t0001g0093a0004c0004t0001g0125others(7): Show | 11 | 428 | 0.0257 | -3 | c.132 others(10): Show |
p.Ala others(5): Show |
FBXO2 | ENSG00000116661.11 | transcript | ENST00000354287.5 | protein_coding | 2/6 | 223/1287 | 132/891 | 44/296 | chr1 | TogoVar | ||
FBXO33_chr14_39392684_39437433 | 39432053 | CGTCGCAG others(2): Show |
C | disruptive_inframe_deletion | MODERATE | HG01516.hp2 HG01517.hp1 HG02486.hp1 |
a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0057a0002c0006t0001g0206 | 3 | 390 | 0.0077 | -9 | c.101 others(16): Show |
p.Gln others(11): Show |
FBXO33 | ENSG00000165355.8 | transcript | ENST00000298097.8 | protein_coding | 1/4 | 380/3771 | 101/1668 | 34/555 | chr14 | TogoVar | ||
FBXO3_chr11_33735944_33779520 | 33742034 | TTCC | T | disruptive_inframe_deletion | MODERATE | NA18961.hp1 NA19011.hp1 NA19063.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0034a0003c0003t0002g0036 | 4 | 382 | 0.0105 | -3 | c.128 others(12): Show |
p.Glu others(6): Show |
FBXO3 | ENSG00000110429.14 | transcript | ENST00000265651.8 | protein_coding | 11/11 | 1312/2403 | 1287/1416 | 429/471 | chr11 | TogoVar | ||
FBXO41_chr2_73249690_73289478 | 73269448 | GGCAGCGG others(11): Show |
G | disruptive_inframe_deletion | MODERATE | HG00280.hp2 HG01981.hp1 |
a0006 | a0006c0011a0006c0012 | a0006c0011t0008a0006c0012t0001 | a0006c0011t0008g0200a0006c0012t0001g0253 | 2 | 374 | 0.0054 | -18 | c.165 others(25): Show |
p.Ala others(11): Show |
FBXO41 | ENSG00000163013.12 | transcript | ENST00000520530.3 | protein_coding | 2/13 | 639/7377 | 165/2628 | 55/875 | chr2 | TogoVar | ||
FBXO41_chr2_73249690_73289478 | 73269451 | AGCGGCGG others(11): Show |
A | disruptive_inframe_deletion | MODERATE | HG02630.hp2 | a0014 | a0014c0026 | a0014c0026t0004 | a0014c0026t0004g0140 | 1 | 374 | 0.0027 | -18 | c.162 others(25): Show |
p.Ala others(11): Show |
FBXO41 | ENSG00000163013.12 | transcript | ENST00000520530.3 | protein_coding | 2/13 | 636/7377 | 162/2628 | 54/875 | chr2 | TogoVar | ||
FBXO41_chr2_73249690_73289478 | 73269454 | GGCGGCGG others(5): Show |
G | disruptive_inframe_deletion | MODERATE | NA18982.hp2 | a0013 | a0013c0010 | a0013c0010t0002 | a0013c0010t0002g0315 | 1 | 374 | 0.0027 | -12 | c.165 others(19): Show |
p.Ala others(11): Show |
FBXO41 | ENSG00000163013.12 | transcript | ENST00000520530.3 | protein_coding | 2/13 | 633/7377 | 165/2628 | 55/875 | chr2 | TogoVar | ||
FCMR_chr1_206898317_206926941 | 206905028 | AACATTGA others(5): Show |
A | disruptive_inframe_deletion | MODERATE | NA18992.hp1 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0099 | 1 | 380 | 0.0026 | -12 | c.115 others(21): Show |
p.Tyr others(13): Show |
FCMR | ENSG00000162894.12 | transcript | ENST00000367091.8 | protein_coding | 8/8 | 1250/2962 | 1152/1173 | 384/390 | chr1 | TogoVar | ||
FGFR4_chr5_177081915_177103144 | 177093756 | GGCCGTCA others(11): Show |
G | disruptive_inframe_deletion others(1): Show |
MODERATE | HG00738.hp2 | a0017 | a0017c0023 | a0017c0023t0001 | a0017c0023t0001g0094 | 1 | 372 | 0.0027 | -18 | c.150 others(27): Show |
p.Ala others(13): Show |
FGFR4 | ENSG00000160867.15 | transcript | ENST00000292408.9 | protein_coding | 11/18 | 1718/3093 | 1502/2409 | 501/802 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
FJX1_chr11_35613460_35625865 | 35619271 | TGGCTCGG others(5): Show |
T | disruptive_inframe_deletion | MODERATE | HG01099.hp2 | a0006 | a0006c0007 | a0006c0007t0006 | a0006c0007t0006g0000 | 1 | 462 | 0.0022 | -12 | c.644 others(19): Show |
p.Val others(13): Show |
FJX1 | ENSG00000179431.7 | transcript | ENST00000317811.6 | protein_coding | 1/1 | 821/2406 | 644/1314 | 215/437 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
FLG2_chr1_152343735_152365006 | 152351501 | TGACCCTC others(218): Show |
T | disruptive_inframe_deletion | MODERATE | NA19009.hp1 | a0025 | a0025c0047 | a0025c0047t0002 | a0025c0047t0002g0069 | 1 | 422 | 0.0024 | -225 | c.606 others(9): Show |
p.Arg others(15): Show |
FLG2 | ENSG00000143520.6 | transcript | ENST00000388718.5 | protein_coding | 3/3 | 6357/9124 | 6060/7176 | 2020/2391 | chr1 | TogoVar | ||
FLG2_chr1_152343735_152365006 | 152351624 | GGCTTGGC others(218): Show |
G | disruptive_inframe_deletion | MODERATE | HG02559.hp1 HG02809.hp2 HG03209.hp1 |
a0017a0032 | a0017c0021a0032c0039 | a0017c0021t0001a0032c0039t0001 | a0017c0021t0001g0058a0017c0021t0001g0065a0032c0039t0001g0066 | 3 | 422 | 0.0071 | -225 | c.593 others(9): Show |
p.Gly others(15): Show |
FLG2 | ENSG00000143520.6 | transcript | ENST00000388718.5 | protein_coding | 3/3 | 6234/9124 | 5937/7176 | 1979/2391 | chr1 | TogoVar | ||
FLG2_chr1_152343735_152365006 | 152354960 | TGAACTTG others(224): Show |
T | disruptive_inframe_deletion | MODERATE | HG00323.hp2 HG00423.hp2 HG00597.hp2 others(126): Show |
a0002a0004a0007others(6): Show | a0002c0002a0002c0045a0004c0004others(8): Show | a0002c0002t0002a0002c0002t0011a0002c0002t0018others(10): Show | a0002c0002t0002g0002a0002c0002t0002g0074a0002c0002t0002g0076others(13): Show | 129 | 422 | 0.3057 | -231 | c.259 others(9): Show |
p.Gly others(13): Show |
FLG2 | ENSG00000143520.6 | transcript | ENST00000388718.5 | protein_coding | 3/3 | 2898/9124 | 2595/7176 | 865/2391 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152307365 | GTGCCCAT others(2912): Show |
G | disruptive_inframe_deletion | MODERATE | NA18968.hp2 NA18984.hp1 NA18998.hp2 |
a0022 | a0022c0021 | a0022c0021t0001 | a0022c0021t0001g0029 | 3 | 426 | 0.0070 | -2919 | c.460 others(9): Show |
p.Gln others(15): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 7592/12793 | 4602/12186 | 1534/4061 | chr1 | TogoVar | ||
FLII_chr17_18239815_18263738 | 18245980 | GCCAACTT others(32): Show |
G | disruptive_inframe_deletion | MODERATE | NA18989.hp1 | a0010 | a0010c0021 | a0010c0021t0001 | a0010c0021t0001g0130 | 1 | 412 | 0.0024 | -39 | c.331 others(48): Show |
p.Trp others(21): Show |
FLII | ENSG00000177731.16 | transcript | ENST00000327031.9 | protein_coding | 26/30 | 3397/4181 | 3311/3810 | 1104/1269 | chr17 | TogoVar | ||
FLVCR2_chr14_75573620_75653167 | 75579044 | CCCCAGCG others(11): Show |
C | disruptive_inframe_deletion | MODERATE | HG01167.hp1 | a0007 | a0007c0009 | a0007c0009t0002 | a0007c0009t0002g0094 | 1 | 336 | 0.0030 | -18 | c.102 others(25): Show |
p.Val others(11): Show |
FLVCR2 | ENSG00000119686.10 | transcript | ENST00000238667.9 | protein_coding | 1/10 | 455/3629 | 102/1581 | 34/526 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |
FMN2_chr1_240086883_240480187 | 240092268 | GGGC | G | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(120): Show |
a0001a0002a0003others(62): Show | a0001c0001a0001c0009a0001c0017others(95): Show | a0001c0001t0002a0001c0009t0001a0001c0009t0006others(101): Show | a0001c0001t0002g0055a0001c0001t0002g0065a0001c0001t0002g0071others(120): Show | 123 | 174 | 0.7069 | -3 | c.174 others(10): Show |
p.Gly others(5): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 1/18 | 401/6429 | 174/5169 | 58/1722 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
FMN2_chr1_240086883_240480187 | 240207613 | TGCCCCCT others(26): Show |
T | disruptive_inframe_deletion | MODERATE | HG00609.hp1 HG01081.hp1 HG01261.hp1 others(4): Show |
a0029a0030a0036others(4): Show | a0029c0063a0030c0062a0036c0082others(4): Show | a0029c0063t0009a0030c0062t0009a0036c0082t0002others(4): Show | a0029c0063t0009g0059a0030c0062t0009g0058a0036c0082t0002g0168others(4): Show | 7 | 174 | 0.0402 | -33 | c.282 others(42): Show |
p.Gly others(13): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 5/18 | 3049/6429 | 2822/5169 | 941/1722 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
FMN2_chr1_240086883_240480187 | 240207635 | AATACCTC others(323): Show |
A | disruptive_inframe_deletion | MODERATE | NA19077.hp1 | a0083 | a0083c0041 | a0083c0041t0001 | a0083c0041t0001g0033 | 1 | 174 | 0.0058 | -330 | c.282 others(9): Show |
p.Pro others(14): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 5/18 | 3056/6429 | 2829/5169 | 943/1722 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
FMN2_chr1_240086883_240480187 | 240207689 | TCCCGGGG others(59): Show |
T | disruptive_inframe_deletion | MODERATE | HG02015.hp2 | a0058 | a0058c0074 | a0058c0074t0002 | a0058c0074t0002g0002 | 1 | 174 | 0.0058 | -66 | c.288 others(75): Show |
p.Ala others(13): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 5/18 | 3110/6429 | 2883/5169 | 961/1722 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
FMN2_chr1_240086883_240480187 | 240207755 | ACCCGGAG others(59): Show |
A | disruptive_inframe_deletion | MODERATE | HG02055.hp2 | a0044 | a0044c0088 | a0044c0088t0009 | a0044c0088t0009g0094 | 1 | 174 | 0.0058 | -66 | c.297 others(75): Show |
p.Leu others(14): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 5/18 | 3200/6429 | 2973/5169 | 991/1722 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
FMN2_chr1_240086883_240480187 | 240207779 | TCCCCCAC others(26): Show |
T | disruptive_inframe_deletion | MODERATE | HG00408.hp1 HG02683.hp1 |
a0036a0057 | a0036c0082a0057c0104 | a0036c0082t0002a0057c0104t0002 | a0036c0082t0002g0168a0057c0104t0002g0007 | 2 | 174 | 0.0115 | -33 | c.300 others(42): Show |
p.Pro others(15): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 5/18 | 3227/6429 | 3000/5169 | 1000/1722 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
FMN2_chr1_240086883_240480187 | 240207788 | TCCCGGAG others(92): Show |
T | disruptive_inframe_deletion | MODERATE | HG02723.hp2 | a0092 | a0092c0028 | a0092c0028t0001 | a0092c0028t0001g0145 | 1 | 174 | 0.0058 | -99 | c.303 others(108): Show |
p.Pro others(15): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 5/18 | 3260/6429 | 3033/5169 | 1011/1722 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
FMN2_chr1_240086883_240480187 | 240207851 | TCTTCCCG others(59): Show |
T | disruptive_inframe_deletion | MODERATE | HG02572.hp1 | a0037 | a0037c0115 | a0037c0115t0007 | a0037c0115t0007g0110 | 1 | 174 | 0.0058 | -66 | c.306 others(75): Show |
p.Pro others(15): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 5/18 | 3287/6429 | 3060/5169 | 1020/1722 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
FMN2_chr1_240086883_240480187 | 240207887 | ACCCGGAG others(26): Show |
A | disruptive_inframe_deletion | MODERATE | HG02717.hp2 | a0031 | a0031c0064 | a0031c0064t0001 | a0031c0064t0001g0001 | 1 | 174 | 0.0058 | -33 | c.313 others(42): Show |
p.Pro others(15): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 5/18 | 3359/6429 | 3132/5169 | 1044/1722 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
FMN2_chr1_240086883_240480187 | 240207950 | ACTTCCCG others(26): Show |
A | disruptive_inframe_deletion | MODERATE | HG00639.hp2 | a0056 | a0056c0087 | a0056c0087t0002 | a0056c0087t0002g0049 | 1 | 174 | 0.0058 | -33 | c.315 others(42): Show |
p.Pro others(15): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 5/18 | 3386/6429 | 3159/5169 | 1053/1722 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
FMN2_chr1_240086883_240480187 | 240207977 | TCCCCCTC others(59): Show |
T | disruptive_inframe_deletion | MODERATE | HG02015.hp2 | a0058 | a0058c0074 | a0058c0074t0002 | a0058c0074t0002g0002 | 1 | 174 | 0.0058 | -66 | c.317 others(75): Show |
p.Leu others(15): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 5/18 | 3398/6429 | 3171/5169 | 1057/1722 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
FMN2_chr1_240086883_240480187 | 240208133 | ACCT | A | disruptive_inframe_deletion | MODERATE | HG02055.hp1 HG02109.hp2 HG02258.hp2 others(4): Show |
a0019a0026a0059others(2): Show | a0019c0022a0026c0042a0026c0043others(3): Show | a0019c0022t0006a0026c0042t0001a0026c0043t0003others(3): Show | a0019c0022t0006g0135a0019c0022t0006g0162a0026c0042t0001g0004others(4): Show | 7 | 174 | 0.0402 | -3 | c.332 others(12): Show |
p.Pro others(7): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 5/18 | 3554/6429 | 3327/5169 | 1109/1722 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
FMN2_chr1_240086883_240480187 | 240208142 | GCCCCCTC others(26): Show |
G | disruptive_inframe_deletion | MODERATE | HG00438.hp2 HG00544.hp1 HG00639.hp1 others(8): Show |
a0009a0012a0034others(3): Show | a0009c0004a0009c0052a0012c0061others(6): Show | a0009c0004t0003a0009c0052t0003a0012c0061t0002others(6): Show | a0009c0004t0003g0037a0009c0004t0003g0043a0009c0004t0003g0048others(8): Show | 11 | 174 | 0.0632 | -33 | c.337 others(42): Show |
p.Pro others(15): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 5/18 | 3599/6429 | 3372/5169 | 1124/1722 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
FMN2_chr1_240086883_240480187 | 240208334 | CCCTCCGC others(26): Show |
C | disruptive_inframe_deletion | MODERATE | HG02132.hp1 | a0034 | a0034c0120 | a0034c0120t0001 | a0034c0120t0001g0127 | 1 | 174 | 0.0058 | -33 | c.357 others(42): Show |
p.Val others(15): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 5/18 | 3803/6429 | 3576/5169 | 1192/1722 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
FMNL1_chr17_45216885_45252318 | 45242067 | TCCG | T | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00280.hp1 HG00621.hp1 others(105): Show |
a0002a0005a0008others(3): Show | a0002c0003a0002c0007a0002c0016others(8): Show | a0002c0003t0001a0002c0003t0004a0002c0003t0008others(12): Show | a0002c0003t0001g0004a0002c0003t0001g0005a0002c0003t0001g0007others(54): Show | 108 | 384 | 0.2813 | -3 | c.183 others(12): Show |
p.Pro others(6): Show |
FMNL1 | ENSG00000184922.15 | transcript | ENST00000331495.8 | protein_coding | 15/27 | 2070/4003 | 1830/3303 | 610/1100 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
FMNL1_chr17_45216885_45252318 | 45242067 | TCCGCCG | T | disruptive_inframe_deletion | MODERATE | NA18940.hp2 NA18942.hp1 NA18962.hp1 others(4): Show |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0008a0004c0006t0001g0124a0004c0006t0001g0132 | 7 | 384 | 0.0182 | -6 | c.182 others(15): Show |
p.Pro others(13): Show |
FMNL1 | ENSG00000184922.15 | transcript | ENST00000331495.8 | protein_coding | 15/27 | 2067/4003 | 1827/3303 | 609/1100 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
FMNL1_chr17_45216885_45252318 | 45242067 | TCCGCCGC others(2): Show |
T | disruptive_inframe_deletion | MODERATE | HG02300.hp1 NA18957.hp2 NA19002.hp1 others(1): Show |
a0006 | a0006c0010a0006c0022 | a0006c0010t0001a0006c0022t0001 | a0006c0010t0001g0001a0006c0010t0001g0125a0006c0022t0001g0012 | 4 | 384 | 0.0104 | -9 | c.182 others(18): Show |
p.Pro others(13): Show |
FMNL1 | ENSG00000184922.15 | transcript | ENST00000331495.8 | protein_coding | 15/27 | 2064/4003 | 1824/3303 | 608/1100 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
FNDC1_chr6_159164400_159277108 | 159239747 | GCCACCAC others(11): Show |
G | disruptive_inframe_deletion | MODERATE | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(210): Show |
a0001a0002a0003others(24): Show | a0001c0005a0001c0006a0001c0010others(49): Show | a0001c0005t0001a0001c0005t0006a0001c0006t0001others(53): Show | a0001c0005t0001g0019a0001c0005t0001g0045a0001c0005t0001g0046others(209): Show | 213 | 306 | 0.6961 | -18 | c.443 others(27): Show |
p.Thr others(15): Show |
FNDC1 | ENSG00000164694.17 | transcript | ENST00000297267.14 | protein_coding | 14/23 | 4633/6548 | 4436/5685 | 1479/1894 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
FOLH1_chr11_49140092_49213602 | 49208393 | TGAA | T | disruptive_inframe_deletion | MODERATE | HG01109.hp1 HG01884.hp1 HG02055.hp1 others(3): Show |
a0003 | a0003c0005 | a0003c0005t0002a0003c0005t0006 | a0003c0005t0002g0029a0003c0005t0002g0030a0003c0005t0006g0028others(2): Show | 6 | 374 | 0.0160 | -3 | c.14_ others(8): Show |
p.Leu others(4): Show |
FOLH1 | ENSG00000086205.18 | transcript | ENST00000256999.7 | protein_coding | 1/19 | 209/4110 | 14/2253 | 5/750 | chr11 | TogoVar | ||
FOXB2_chr9_77014655_77025953 | 77020145 | AGCCGCCG others(5): Show |
A | disruptive_inframe_deletion | MODERATE | NA19091.hp1 | a0003 | a0003c0004 | a0003c0004t0000 | a0003c0004t0000g0000 | 1 | 400 | 0.0025 | -12 | c.498 others(19): Show |
p.Pro others(13): Show |
FOXB2 | ENSG00000204612.1 | transcript | ENST00000376708.1 | protein_coding | 1/1 | 498/1299 | 498/1299 | 166/432 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
FOXD1_chr5_73441266_73453777 | 73447202 | GGCGGCGG others(8): Show |
G | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG01255.hp2 HG01346.hp2 others(3): Show |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0000 | 6 | 414 | 0.0145 | -15 | c.114 others(24): Show |
p.Gln others(13): Show |
FOXD1 | ENSG00000251493.5 | transcript | ENST00000615637.3 | protein_coding | 1/1 | 1575/2512 | 1146/1398 | 382/465 | chr5 | TogoVar | ||
FOXD4L1_chr2_113493665_113506150 | 113499361 | TGAAGACG others(5): Show |
T | disruptive_inframe_deletion | MODERATE | HG02818.hp2 HG02965.hp1 |
a0000 | a0000c0009 | a0000c0009t0012 | a0000c0009t0012g0000 | 2 | 326 | 0.0061 | -12 | c.116 others(19): Show |
p.Val others(11): Show |
FOXD4L1 | ENSG00000184492.7 | transcript | ENST00000306507.7 | protein_coding | 1/1 | 708/2486 | 116/1227 | 39/408 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
FOXD4L4_chr9_65732146_65743396 | 65738388 | CGCT | C | disruptive_inframe_deletion others(1): Show |
MODERATE | HG01168.hp1 HG02148.hp2 HG02293.hp1 others(6): Show |
a0005a0008 | a0005c0005a0008c0010 | a0005c0005t0000a0008c0010t0000 | a0005c0005t0000g0000a0008c0010t0000g0000 | 9 | 207 | 0.0435 | -3 | c.124 others(12): Show |
p.Cys others(6): Show |
FOXD4L4 | ENSG00000184659.6 | transcript | ENST00000377413.3 | protein_coding | 1/1 | 1248/1251 | 1248/1251 | 416/416 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
FOXE1_chr9_97848226_97861717 | 97854412 | TGCCGCAG others(5): Show |
T | disruptive_inframe_deletion | MODERATE | HG01069.hp2 HG01106.hp2 |
a0004 | a0004c0011 | a0004c0011t0003 | a0004c0011t0003g0000 | 2 | 328 | 0.0061 | -12 | c.504 others(19): Show |
p.Ala others(13): Show |
FOXE1 | ENSG00000178919.9 | transcript | ENST00000375123.5 | protein_coding | 1/1 | 1193/3492 | 504/1122 | 168/373 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
FOXO3B_chr17_18662629_18687314 | 18672675 | CCCGCCG | C | disruptive_inframe_deletion | MODERATE | HG01109.hp1 HG01891.hp1 HG02055.hp1 others(29): Show |
a0006a0008a0009others(2): Show | a0006c0006a0008c0008a0009c0009others(2): Show | a0006c0006t0006a0006c0006t0025a0006c0006t0041others(8): Show | a0006c0006t0006g0007a0006c0006t0006g0120a0006c0006t0006g0121others(14): Show | 32 | 456 | 0.0702 | -6 | c.501 others(13): Show |
p.Gly others(13): Show |
FOXO3B | ENSG00000240445.6 | transcript | ENST00000395675.7 | protein_coding | 4/4 | 812/5859 | 501/873 | 167/290 | chr17 | TogoVar | ||
FRMD4A_chr10_13638706_14335924 | 13657133 | CCGCCCCC others(2): Show |
C | disruptive_inframe_deletion | MODERATE | HG00140.hp1 HG01346.hp2 HG02897.hp1 others(3): Show |
a0002 | a0002c0004a0002c0006 | a0002c0004t0002a0002c0004t0010a0002c0006t0010 | a0002c0004t0002g0084a0002c0004t0002g0095a0002c0004t0010g0012others(3): Show | 6 | 134 | 0.0448 | -9 | c.244 others(18): Show |
p.Ala others(13): Show |
FRMD4A | ENSG00000151474.23 | transcript | ENST00000357447.7 | protein_coding | 22/25 | 2864/6861 | 2447/3120 | 816/1039 | chr10 | TogoVar | ||
FRMPD3_chrX_107444652_107610251 | 107601468 | CAGCCCCA others(47): Show |
C | disruptive_inframe_deletion | MODERATE | NA19043.hp1 | a0010 | a0010c0017 | a0010c0017t0001 | a0010c0017t0001g0014 | 1 | 183 | 0.0055 | -54 | c.344 others(63): Show |
p.Pro others(15): Show |
FRMPD3 | ENSG00000147234.11 | transcript | ENST00000683843.1 | protein_coding | 15/15 | 3805/7573 | 3444/5334 | 1148/1777 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
FSCB_chr14_44499149_44512283 | 44504951 | AGGGGCCT others(101): Show |
A | disruptive_inframe_deletion | MODERATE | HG01515.hp1 | a0015 | a0015c0026 | a0015c0026t0001 | a0015c0026t0001g0000 | 1 | 446 | 0.0022 | -108 | c.192 others(9): Show |
p.Ala others(13): Show |
FSCB | ENSG00000189139.6 | transcript | ENST00000340446.5 | protein_coding | 1/1 | 2332/3135 | 1929/2478 | 643/825 | chr14 | TogoVar | ||
FTSJ3_chr17_63814433_63832663 | 63825267 | AGATTCAT others(26): Show |
A | disruptive_inframe_deletion | MODERATE | HG03130.hp2 | a0006 | a0006c0020 | a0006c0020t0001 | a0006c0020t0001g0060 | 1 | 372 | 0.0027 | -33 | c.537 others(40): Show |
p.Gln others(19): Show |
FTSJ3 | ENSG00000108592.17 | transcript | ENST00000427159.7 | protein_coding | 7/21 | 1207/3551 | 537/2544 | 179/847 | chr17 | TogoVar | ||
FUT1_chr19_48743011_48757641 | 48750745 | TTCCCGGA others(29): Show |
T | disruptive_inframe_deletion | MODERATE | NA19059.hp2 | a0005 | a0005c0005 | a0005c0005t0005 | a0005c0005t0005g0048 | 1 | 438 | 0.0023 | -36 | c.501 others(43): Show |
p.Phe others(19): Show |
FUT1 | ENSG00000174951.12 | transcript | ENST00000645652.2 | protein_coding | 2/2 | 690/3425 | 501/1098 | 167/365 | chr19 | TogoVar |