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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EYA2_chr20_46889843_47193844 | 47130261 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01358.hp1 HG01361.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0039 a0001c0001t0001g0155 a0001c0001t0002g0043 others(17): Show |
20 | 78 | 0.2564 | 9 | c.889 others(28): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47135818 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01123.hp2 HG01192.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0002g0023 a0001c0001t0002g0057 a0001c0001t0002g0210 others(13): Show |
16 | 181 | 0.0884 | 9 | c.889 others(26): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47182628 | T | TCAAAAAA others(2): Show |
intron_variant | MODIFIER | NA18992.hp2 NA18993.hp1 NA19000.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0087 a0001c0001t0001g0139 a0001c0001t0001g0193 others(1): Show |
4 | 71 | 0.0563 | 9 | c.143 others(26): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 14/15 | chr20 | TogoVar | |||||||
EYA3_chr1_27965344_28093610 | 28009639 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01069.hp1 HG01255.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0308 a0001c0001t0003g0008 a0001c0001t0003g0009 others(19): Show |
22 | 303 | 0.0726 | 9 | c.909 others(26): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 10/17 | chr1 | TogoVar | |||||||
EYA3_chr1_27965344_28093610 | 28084595 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00673.hp1 HG01099.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0123 a0001c0001t0003g0037 a0001c0001t0003g0045 others(4): Show |
7 | 279 | 0.0251 | 9 | c.-69 others(26): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
EYA3_chr1_27965344_28093610 | 28084596 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01192.hp1 HG01358.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0149 a0001c0001t0002g0156 a0001c0001t0002g0178 others(2): Show |
5 | 357 | 0.0140 | 9 | c.-69 others(26): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
EYA3_chr1_27965344_28093610 | 28092164 | A | AAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG01261.hp2 HG02615.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0096 a0001c0001t0001g0206 others(8): Show |
11 | 28 | 0.3929 | 9 | c.-37 others(20): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 3555 | chr1 | TogoVar | |||||||
EYA4_chr6_133236357_133537128 | 133383517 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG01074.hp2 others(31): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0071 others(31): Show |
34 | 70 | 0.4857 | 9 | c.83+ others(24): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EYA4_chr6_133236357_133537128 | 133428911 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01074.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0018a0001c0001t0026others(4): Show | a0001c0001t0001g0060 a0001c0001t0001g0075 a0001c0001t0001g0078 others(12): Show |
15 | 42 | 0.3571 | 9 | c.84- others(26): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EYA4_chr6_133236357_133537128 | 133483698 | G | GTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01975.hp1 HG02071.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0002c0002t0001a0002c0002t0004 | a0001c0001t0011g0086 a0002c0002t0001g0022 a0002c0002t0001g0061 others(3): Show |
6 | 136 | 0.0441 | 9 | c.119 others(26): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EYA4_chr6_133236357_133537128 | 133491951 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02451.hp2 HG02486.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0016a0001c0001t0020others(2): Show | a0001c0001t0013g0116 a0001c0001t0013g0118 a0001c0001t0016g0050 others(4): Show |
7 | 112 | 0.0625 | 9 | c.119 others(28): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 63840211 | C | CTTATTAT others(2): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03098.hp1 |
a0002a0016 | a0002c0012a0016c0022 | a0002c0012t0002a0016c0022t0001 | a0002c0012t0002g0021 a0016c0022t0001g0011 |
2 | 17 | 0.1176 | 9 | c.722 others(30): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 36/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 63840235 | A | ATTATTAT others(2): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02630.hp2 HG02809.hp1 others(2): Show |
a0003a0008a0012others(1): Show | a0003c0008a0003c0021a0008c0001others(2): Show | a0003c0008t0002a0003c0021t0001a0008c0001t0001others(2): Show | a0003c0008t0002g0020 a0003c0021t0001g0008 a0008c0001t0001g0013 others(2): Show |
5 | 14 | 0.3571 | 9 | c.722 others(30): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 36/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 64703429 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02622.hp2 HG03098.hp1 |
a0001a0002a0016 | a0001c0019a0002c0012a0016c0022 | a0001c0019t0001a0002c0012t0002a0016c0022t0001 | a0001c0019t0001g0006 a0002c0012t0002g0021 a0016c0022t0001g0011 |
3 | 14 | 0.2143 | 9 | c.344 others(30): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 22/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 65700114 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02965.hp1 HG03098.hp1 |
a0002a0013a0016 | a0002c0009a0013c0005a0016c0022 | a0002c0009t0001a0013c0005t0001a0016c0022t0001 | a0002c0009t0001g0012 a0013c0005t0001g0014 a0016c0022t0001g0011 |
3 | 8 | 0.3750 | 9 | c.-44 others(28): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 1/42 | chr6 | TogoVar | |||||||
EZH2_chr7_148802383_148889291 | 148859505 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0002others(1): Show | a0001c0001t0001a0001c0010t0003a0002c0002t0001others(2): Show | a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0129 others(18): Show |
21 | 133 | 0.1579 | 9 | c.-7- others(26): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 1/19 | chr7 | TogoVar | |||||||
EZR_chr6_158760748_158824368 | 158791706 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG00738.hp2 others(21): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0002a0001c0001t0004a0001c0001t0016others(2): Show | a0001c0001t0002g0002 a0001c0001t0002g0015 a0001c0001t0002g0177 others(17): Show |
24 | 113 | 0.2124 | 9 | c.13- others(24): Show |
EZR | ENSG00000092820.19 | transcript | ENST00000367075.4 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
F10_chr13_113117799_113154529 | 113148345 | A | AAATATAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00741.hp2 HG01346.hp2 others(5): Show |
a0001 | a0001c0002a0001c0009 | a0001c0002t0001a0001c0009t0001 | a0001c0002t0001g0044 a0001c0002t0001g0110 a0001c0002t0001g0144 others(5): Show |
8 | 194 | 0.0412 | 9 | c.866 others(24): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
F11R_chr1_160990211_161026152 | 161005167 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG00741.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010 | a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0022 others(26): Show |
37 | 187 | 0.1979 | 9 | c.65- others(24): Show |
F11R | ENSG00000158769.19 | transcript | ENST00000368026.11 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
F11R_chr1_160990211_161026152 | 161010441 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG00642.hp2 others(66): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0023 others(48): Show |
69 | 150 | 0.4600 | 9 | c.65- others(24): Show |
F11R | ENSG00000158769.19 | transcript | ENST00000368026.11 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
F12_chr5_177397141_177414564 | 177409942 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(103): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(38): Show |
106 | 111 | 0.9550 | 9 | c.-42 others(18): Show |
F12 | ENSG00000131187.11 | transcript | ENST00000253496.4 | protein_coding | 379 | chr5 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6285803 | A | AGAAATAC others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp2 others(41): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0009a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0015 a0001c0001t0001g0047 a0001c0001t0001g0048 others(41): Show |
44 | 290 | 0.1517 | 9 | c.320 others(28): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 3/14 | chr6 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6313984 | C | CACTTTTT others(2): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02559.hp1 HG02615.hp1 others(4): Show |
a0001a0006a0007 | a0001c0001a0006c0025a0007c0022 | a0001c0001t0001a0001c0001t0002a0006c0025t0006others(1): Show | a0001c0001t0001g0032 a0001c0001t0001g0234 a0001c0001t0001g0239 others(4): Show |
7 | 67 | 0.1045 | 9 | c.130 others(26): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 2/14 | chr6 | TogoVar | |||||||
F13B_chr1_197033741_197072260 | 197036289 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 NA18612.hp1 NA18945.hp2 others(3): Show |
a0003a0004 | a0003c0004a0004c0005 | a0003c0004t0003a0004c0005t0004 | a0003c0004t0003g0009 a0004c0005t0004g0032 |
6 | 45 | 0.1333 | 9 | c.*30 others(20): Show |
F13B | ENSG00000143278.5 | transcript | ENST00000367412.2 | protein_coding | 2451 | chr1 | TogoVar | |||||||
F13B_chr1_197033741_197072260 | 197052463 | C | CCTGCACA others(2): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02976.hp1 HG03041.hp2 others(1): Show |
a0003a0004 | a0003c0014a0004c0005 | a0003c0014t0004a0004c0005t0004 | a0003c0014t0004g0042 a0004c0005t0004g0032 a0004c0005t0004g0126 |
4 | 340 | 0.0118 | 9 | c.155 others(26): Show |
F13B | ENSG00000143278.5 | transcript | ENST00000367412.2 | protein_coding | 9/11 | chr1 | TogoVar | |||||||
F5_chr1_169506951_169591481 | 169587561 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 HG02886.hp2 HG03098.hp2 others(4): Show |
a0002a0004a0007others(1): Show | a0002c0003a0004c0007a0004c0040others(3): Show | a0002c0003t0001a0004c0007t0003a0004c0040t0003others(3): Show | a0002c0003t0001g0018 a0002c0003t0001g0020 a0004c0007t0003g0017 others(4): Show |
7 | 125 | 0.0560 | 9 | c.-11 others(20): Show |
F5 | ENSG00000198734.12 | transcript | ENST00000367797.9 | protein_coding | 1081 | chr1 | TogoVar | |||||||
F8A3_chrX_155451914_155463620 | 155456569 | G | GAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02886.hp2 HG02922.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0000 a0001c0001t0002g0000 |
6 | 103 | 0.0583 | 9 | c.*91 others(18): Show |
F8A3 | ENSG00000277150.2 | transcript | ENST00000622749.2 | protein_coding | 344 | chrX | TogoVar | |||||||
FA2H_chr16_74707969_74779820 | 74740620 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01516.hp2 HG01517.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0032 a0001c0001t0001g0056 a0001c0001t0001g0264 others(6): Show |
10 | 83 | 0.1205 | 9 | c.271 others(24): Show |
FA2H | ENSG00000103089.9 | transcript | ENST00000219368.8 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
FAAH2_chrX_57281706_57494193 | 57431787 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(217): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(216): Show |
220 | 242 | 0.9091 | 9 | c.997 others(24): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
FABP2_chr4_119312250_119327138 | 119319647 | C | CATAATAA others(2): Show |
splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(92): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0002g0002 a0001c0001t0002g0018 a0001c0001t0002g0048 others(6): Show |
95 | 290 | 0.3276 | 9 | c.241 others(21): Show |
FABP2 | ENSG00000145384.4 | transcript | ENST00000274024.4 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
FADS2_chr11_61823300_61872354 | 61859723 | A | AGTCACTC others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01243.hp1 HG01243.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0021 others(22): Show |
26 | 278 | 0.0935 | 9 | c.882 others(26): Show |
FADS2 | ENSG00000134824.14 | transcript | ENST00000278840.9 | protein_coding | 7/11 | chr11 | TogoVar | |||||||
FADS2_chr11_61823300_61872354 | 61861353 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00741.hp1 HG01175.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0049 others(10): Show |
14 | 122 | 0.1148 | 9 | c.883 others(26): Show |
FADS2 | ENSG00000134824.14 | transcript | ENST00000278840.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FADS3_chr11_61868526_61896545 | 61893222 | A | AATCCAGC others(2): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 HG02976.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0039 a0001c0001t0002g0120 |
3 | 416 | 0.0072 | 9 | c.-18 others(20): Show |
FADS3 | ENSG00000221968.9 | transcript | ENST00000278829.7 | protein_coding | 1678 | chr11 | TogoVar | |||||||
FADS6_chr17_74872302_74898633 | 74874484 | T | TGCCATCT others(2): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG01099.hp2 others(49): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0011a0002c0002others(10): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(19): Show | a0001c0001t0003g0025 a0001c0001t0003g0035 a0001c0001t0003g0105 others(39): Show |
52 | 438 | 0.1187 | 9 | c.*38 others(20): Show |
FADS6 | ENSG00000172782.13 | transcript | ENST00000612771.5 | protein_coding | 2817 | chr17 | TogoVar | |||||||
FAF1_chr1_50432028_50965267 | 50729058 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01256.hp2 HG01258.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0006a0001c0002t0018 | a0001c0001t0004g0062 a0001c0001t0004g0067 a0001c0001t0004g0068 others(4): Show |
7 | 56 | 0.1250 | 9 | c.551 others(26): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 6/18 | chr1 | TogoVar | |||||||
FAF1_chr1_50432028_50965267 | 50729058 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02027.hp1 HG02129.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0037 | a0001c0001t0001g0057 a0001c0001t0001g0165 a0001c0001t0001g0172 others(2): Show |
5 | 54 | 0.0926 | 9 | c.551 others(26): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 6/18 | chr1 | TogoVar | |||||||
FAF1_chr1_50432028_50965267 | 50931888 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01243.hp2 HG02055.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0100 others(9): Show |
12 | 113 | 0.1062 | 9 | c.45+ others(26): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 1/18 | chr1 | TogoVar | |||||||
FAF2_chr5_176443385_176515074 | 176444286 | A | AAAATAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01070.hp1 HG01074.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0003g0067 a0001c0001t0003g0072 a0001c0001t0004g0277 others(21): Show |
25 | 237 | 0.1055 | 9 | c.-41 others(20): Show |
FAF2 | ENSG00000113194.13 | transcript | ENST00000261942.7 | protein_coding | 4098 | chr5 | TogoVar | |||||||
FAHD1_chr16_1822206_1833910 | 1832178 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 HG01361.hp2 HG02055.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0000 a0001c0001t0006g0000 |
17 | 34 | 0.5000 | 9 | c.*42 others(20): Show |
FAHD1 | ENSG00000180185.13 | transcript | ENST00000427358.5 | protein_coding | 3269 | chr16 | TogoVar | |||||||
FAIM_chr3_138603771_138638376 | 138609603 | T | TCTCTCTC others(2): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01884.hp1 HG02074.hp2 others(20): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0004a0003c0003t0001 | a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0001g0060 others(20): Show |
23 | 366 | 0.0628 | 9 | c.-17 others(24): Show |
FAIM | ENSG00000158234.13 | transcript | ENST00000360570.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FAM107B_chr10_14513557_14779897 | 14573959 | T | TTTCTGCT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(199): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(35): Show | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0010 others(199): Show |
202 | 270 | 0.7481 | 9 | c.470 others(28): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
FAM107B_chr10_14513557_14779897 | 14576529 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(54): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0035 others(54): Show |
57 | 189 | 0.3016 | 9 | c.470 others(28): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
FAM107B_chr10_14513557_14779897 | 14628112 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01358.hp2 HG02074.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0037 a0001c0001t0001g0103 a0001c0001t0001g0229 others(12): Show |
15 | 102 | 0.1471 | 9 | c.469 others(28): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
FAM107B_chr10_14513557_14779897 | 14629389 | A | ATTATATA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00558.hp1 others(102): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0053 others(102): Show |
105 | 265 | 0.3962 | 9 | c.469 others(28): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
FAM107B_chr10_14513557_14779897 | 14630278 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02735.hp2 HG02809.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0002 a0001c0001t0001g0034 a0001c0001t0001g0089 others(4): Show |
7 | 17 | 0.4118 | 9 | c.469 others(28): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
FAM107B_chr10_14513557_14779897 | 14712626 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01433.hp1 HG02055.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0103 a0001c0001t0001g0158 a0001c0001t0001g0163 others(4): Show |
7 | 72 | 0.0972 | 9 | c.412 others(28): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 1/4 | chr10 | TogoVar | |||||||
FAM114A1_chr4_38862806_38950739 | 38949273 | T | TAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 HG02080.hp2 HG02148.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0035others(3): Show | a0001c0001t0002g0007 a0001c0001t0002g0063 a0001c0001t0002g0072 others(9): Show |
12 | 114 | 0.1053 | 9 | c.*57 others(20): Show |
FAM114A1 | ENSG00000197712.12 | transcript | ENST00000358869.5 | protein_coding | 3535 | chr4 | TogoVar | |||||||
FAM114A2_chr5_153985148_154043910 | 154031312 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01981.hp2 HG02717.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0012 | a0001c0001t0011g0009 a0001c0001t0011g0242 a0001c0001t0012g0100 |
7 | 28 | 0.2500 | 9 | c.404 others(26): Show |
FAM114A2 | ENSG00000055147.19 | transcript | ENST00000351797.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
FAM117B_chr2_202629969_202774757 | 202740173 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01081.hp1 HG02818.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0043 a0001c0001t0001g0172 a0001c0001t0001g0217 others(9): Show |
12 | 82 | 0.1463 | 9 | c.960 others(28): Show |
FAM117B | ENSG00000138439.12 | transcript | ENST00000392238.3 | protein_coding | 4/7 | chr2 | TogoVar | |||||||
FAM120A_chr9_93446685_93571112 | 93489371 | G | GGTATTCC others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00673.hp1 others(32): Show |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0001a0001c0003t0002a0001c0005t0009 | a0001c0002t0001g0227 a0001c0003t0002g0118 a0001c0003t0002g0147 others(32): Show |
35 | 316 | 0.1108 | 9 | c.805 others(26): Show |
FAM120A | ENSG00000048828.18 | transcript | ENST00000277165.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |