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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FBXO41_chr2_73249690_73289478 | 73269451 | AGCGGCGG others(11): Show |
A | disruptive_inframe_deletion | MODERATE | HG02630.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0134 | 1 | 372 | 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 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 372 | 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 | a0008 | a0008c0006 | a0008c0006t0002 | a0008c0006t0002g0085 | 1 | 378 | 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 | a0006 | a0006c0023 | a0006c0023t0001 | a0006c0023t0001g0113 | 1 | 370 | 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 | a0005 | a0005c0007 | a0005c0007t0006 | a0005c0007t0006g0000 | 1 | 460 | 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 | a0034 | a0034c0044 | a0034c0044t0002 | a0034c0044t0002g0067 | 1 | 420 | 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 |
a0017a0024 | a0017c0018a0024c0036 | a0017c0018t0001a0024c0036t0001 | a0017c0018t0001g0056 a0017c0018t0001g0063 a0024c0036t0001g0064 |
3 | 420 | 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 |
a0003a0004a0006others(5): Show | a0003c0002a0003c0042a0003c0043others(8): Show | a0003c0002t0002a0003c0002t0012a0003c0002t0019others(10): Show | a0003c0002t0002g0002 a0003c0002t0002g0072 a0003c0002t0002g0074 others(13): Show |
129 | 420 | 0.3071 | -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 |
a0030 | a0030c0021 | a0030c0021t0001 | a0030c0021t0001g0029 | 3 | 203 | 0.0148 | -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 | a0015 | a0015c0021 | a0015c0021t0001 | a0015c0021t0001g0106 | 1 | 410 | 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 | a0006 | a0006c0009 | a0006c0009t0002 | a0006c0009t0002g0093 | 1 | 334 | 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(119): Show |
a0001a0002a0003others(37): Show | a0001c0006a0001c0008a0001c0015others(94): Show | a0001c0006t0002a0001c0008t0003a0001c0015t0002others(100): Show | a0001c0006t0002g0062 a0001c0006t0002g0063 a0001c0006t0002g0066 others(119): Show |
122 | 172 | 0.7093 | -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 |
a0029a0035a0038others(4): Show | a0029c0067a0035c0123a0038c0062others(4): Show | a0029c0067t0004a0035c0123t0001a0038c0062t0009others(4): Show | a0029c0067t0004g0069 a0035c0123t0001g0077 a0038c0062t0009g0058 others(4): Show |
7 | 171 | 0.0409 | -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 | a0007 | a0007c0041 | a0007c0041t0001 | a0007c0041t0001g0033 | 1 | 172 | 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 | a0043 | a0043c0071 | a0043c0071t0002 | a0043c0071t0002g0002 | 1 | 143 | 0.0070 | -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 | a0046 | a0046c0084 | a0046c0084t0009 | a0046c0084t0009g0094 | 1 | 141 | 0.0071 | -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 |
a0011a0054 | a0011c0101a0054c0081 | a0011c0101t0002a0054c0081t0002 | a0011c0101t0002g0007 a0054c0081t0002g0168 |
2 | 141 | 0.0142 | -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 | a0055 | a0055c0028 | a0055c0028t0001 | a0055c0028t0001g0145 | 1 | 110 | 0.0091 | -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 | a0050 | a0050c0114 | a0050c0114t0007 | a0050c0114t0007g0110 | 1 | 136 | 0.0074 | -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 | a0011 | a0011c0064 | a0011c0064t0001 | a0011c0064t0001g0001 | 1 | 164 | 0.0061 | -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 | a0011 | a0011c0083 | a0011c0083t0002 | a0011c0083t0002g0049 | 1 | 170 | 0.0059 | -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 | a0043 | a0043c0071 | a0043c0071t0002 | a0043c0071t0002g0002 | 1 | 167 | 0.0060 | -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 |
a0018a0025a0045others(1): Show | a0018c0022a0018c0076a0025c0042others(3): Show | a0018c0022t0006a0018c0076t0002a0025c0042t0001others(3): Show | a0018c0022t0006g0135 a0018c0022t0006g0162 a0018c0076t0002g0089 others(4): Show |
7 | 172 | 0.0407 | -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(7): Show |
a0009a0013a0035others(2): Show | a0009c0005a0009c0054a0013c0074others(5): Show | a0009c0005t0003a0009c0054t0003a0013c0074t0002others(5): Show | a0009c0005t0003g0037 a0009c0005t0003g0043 a0009c0005t0003g0048 others(7): Show |
10 | 170 | 0.0588 | -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 | a0048 | a0048c0122 | a0048c0122t0001 | a0048c0122t0001g0127 | 1 | 172 | 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(104): Show |
a0002a0006a0008others(2): Show | a0002c0003a0002c0007a0002c0013others(8): Show | a0002c0003t0001a0002c0003t0004a0002c0003t0008others(12): Show | a0002c0003t0001g0004 a0002c0003t0001g0005 a0002c0003t0001g0007 others(54): Show |
107 | 359 | 0.2981 | -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 | a0004c0006t0001g0008 a0004c0006t0001g0128 a0004c0006t0001g0136 |
7 | 259 | 0.0270 | -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 |
a0005 | a0005c0010a0005c0023 | a0005c0010t0001a0005c0023t0001 | a0005c0010t0001g0001 a0005c0010t0001g0129 a0005c0023t0001g0012 |
4 | 256 | 0.0156 | -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(19): Show | a0001c0005a0001c0006a0001c0010others(49): Show | a0001c0005t0001a0001c0005t0006a0001c0006t0001others(53): Show | a0001c0005t0001g0015 a0001c0005t0001g0047 a0001c0005t0001g0048 others(205): Show |
213 | 304 | 0.7007 | -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 | a0003c0005t0002g0029 a0003c0005t0002g0030 a0003c0005t0006g0028 others(2): Show |
6 | 372 | 0.0161 | -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 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0000 | 1 | 398 | 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 | 412 | 0.0146 | -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 |
a0007 | a0007c0009 | a0007c0009t0012 | a0007c0009t0012g0000 | 2 | 324 | 0.0062 | -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 | a0005c0005t0001a0008c0010t0001 | a0005c0005t0001g0000 a0008c0010t0001g0000 |
9 | 206 | 0.0437 | -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 | a0004c0010 | a0004c0010t0003 | a0004c0010t0003g0000 | 2 | 326 | 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(1): Show | a0006c0006a0008c0008a0009c0009others(2): Show | a0006c0006t0006a0006c0006t0026a0006c0006t0046others(8): Show | a0006c0006t0006g0007 a0006c0006t0006g0167 a0006c0006t0006g0168 others(14): Show |
32 | 454 | 0.0705 | -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 | a0002c0004t0002g0084 a0002c0004t0002g0095 a0002c0004t0010g0012 others(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 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0014 | 1 | 181 | 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 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0000 | 1 | 220 | 0.0045 | -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 | a0007 | a0007c0020 | a0007c0020t0001 | a0007c0020t0001g0060 | 1 | 370 | 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 | a0005c0005t0003 | a0005c0005t0003g0043 | 1 | 436 | 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 | |||
FZD8_chr10_35633247_35647296 | 35640327 | CCCGCGCC others(8): Show |
C | disruptive_inframe_deletion | MODERATE | HG00673.hp2 | a0003 | a0003c0012 | a0003c0012t0004 | a0003c0012t0004g0000 | 1 | 402 | 0.0025 | -15 | c.108 others(24): Show |
p.Ala others(13): Show |
FZD8 | ENSG00000177283.8 | transcript | ENST00000374694.3 | protein_coding | 1/1 | 1969/4050 | 1088/2085 | 363/694 | chr10 | TogoVar | |||
GAGE12D_chrX_49536733_49554094 | 49542911 | CTAT | C | disruptive_inframe_deletion | MODERATE | HG00544.hp2 HG01175.hp2 HG01257.hp2 others(12): Show |
a0002 | a0002c0002a0002c0005a0002c0008 | a0002c0002t0001a0002c0002t0003a0002c0002t0004others(4): Show | a0002c0002t0001g0053 a0002c0002t0003g0001 a0002c0002t0003g0011 others(9): Show |
15 | 72 | 0.2083 | -3 | c.29_ others(8): Show |
p.Tyr others(5): Show |
GAGE12D | ENSG00000227488.3 | transcript | ENST00000405679.4 | protein_coding | 2/5 | 145/561 | 29/354 | 10/117 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
GAGE12E_chrX_49546289_49563645 | 49552467 | CTAT | C | disruptive_inframe_deletion | MODERATE | HG00280.hp1 HG00544.hp2 HG00642.hp1 others(12): Show |
a0005a0006a0011 | a0005c0005a0006c0006a0011c0009 | a0005c0005t0001a0005c0005t0003a0005c0005t0005others(4): Show | a0005c0005t0001g0012 a0005c0005t0001g0029 a0005c0005t0001g0030 others(12): Show |
15 | 100 | 0.1500 | -3 | c.29_ others(8): Show |
p.Tyr others(5): Show |
GAGE12E | ENSG00000216649.5 | transcript | ENST00000381698.5 | protein_coding | 2/5 | 145/560 | 29/354 | 10/117 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
GAGE12F_chrX_49555842_49573205 | 49562020 | CTAT | C | disruptive_inframe_deletion | MODERATE | HG00280.hp1 HG00544.hp2 HG00642.hp1 others(21): Show |
a0002 | a0002c0003a0002c0004a0002c0007others(1): Show | a0002c0003t0001a0002c0003t0004a0002c0003t0005others(4): Show | a0002c0003t0001g0010 a0002c0003t0001g0065 a0002c0003t0001g0066 others(19): Show |
24 | 99 | 0.2424 | -3 | c.29_ others(8): Show |
p.Tyr others(5): Show |
GAGE12F | ENSG00000236362.9 | transcript | ENST00000440137.2 | protein_coding | 2/5 | 145/561 | 29/354 | 10/117 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
GAGE12G_chrX_49565400_49582754 | 49571578 | CTAT | C | disruptive_inframe_deletion | MODERATE | HG00423.hp1 HG00423.hp2 HG00558.hp2 others(57): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(42): Show |
60 | 95 | 0.6316 | -3 | c.29_ others(8): Show |
p.Tyr others(5): Show |
GAGE12G | ENSG00000215269.6 | transcript | ENST00000445148.2 | protein_coding | 2/5 | 145/561 | 29/354 | 10/117 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
GAGE12H_chrX_49574949_49592301 | 49581127 | CTAT | C | disruptive_inframe_deletion | MODERATE | HG00323.hp1 HG00438.hp1 HG00558.hp2 others(81): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0013 a0001c0001t0001g0046 a0001c0001t0001g0074 others(56): Show |
84 | 116 | 0.7241 | -3 | c.29_ others(8): Show |
p.Tyr others(5): Show |
GAGE12H | ENSG00000224902.6 | transcript | ENST00000381722.2 | protein_coding | 2/5 | 145/561 | 29/354 | 10/117 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
GAGE12J_chrX_49317037_49334384 | 49323217 | CTAT | C | disruptive_inframe_deletion | MODERATE | HG00280.hp1 HG02622.hp1 HG02738.hp1 |
a0007 | a0007c0007a0007c0009 | a0007c0007t0003a0007c0009t0005 | a0007c0007t0003g0039 a0007c0007t0003g0040 a0007c0009t0005g0038 |
3 | 193 | 0.0155 | -3 | c.29_ others(8): Show |
p.Tyr others(5): Show |
GAGE12J | ENSG00000224659.3 | transcript | ENST00000442437.3 | protein_coding | 2/5 | 145/561 | 29/354 | 10/117 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
GAGE13_chrX_49326582_49343949 | 49332761 | CTAT | C | disruptive_inframe_deletion | MODERATE | HG00408.hp2 HG01081.hp1 HG01099.hp1 others(61): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0002t0001others(3): Show | a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0009 others(32): Show |
64 | 92 | 0.6957 | -3 | c.29_ others(8): Show |
p.Tyr others(5): Show |
GAGE13 | ENSG00000274274.2 | transcript | ENST00000612958.2 | protein_coding | 2/5 | 145/561 | 29/354 | 10/117 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
GAGE1_chrX_49594020_49613538 | 49600198 | CTAT | C | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(102): Show |
a0002 | a0002c0002a0002c0003a0002c0006 | a0002c0002t0002a0002c0002t0003a0002c0002t0005others(9): Show | a0002c0002t0002g0002 a0002c0002t0002g0010 a0002c0002t0002g0013 others(55): Show |
105 | 309 | 0.3398 | -3 | c.29_ others(8): Show |
p.Tyr others(5): Show |
GAGE1 | ENSG00000205777.19 | transcript | ENST00000381700.11 | protein_coding | 2/5 | 145/2993 | 29/354 | 10/117 | INFO_REALIGN_3_PRIME | chrX | TogoVar |