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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAM98B_chr15_38449127_38492710 | 38484605 | AGGTGGTG others(2): Show |
A | disruptive_inframe_deletion | MODERATE | HG00642.hp1 HG00738.hp2 HG01169.hp1 others(28): Show |
a0002a0008 | a0002c0002a0002c0007a0008c0011 | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(3): Show | a0002c0002t0002g0005 a0002c0002t0002g0111 a0002c0002t0002g0123 others(18): Show |
31 | 395 | 0.0785 | -9 | c.126 others(18): Show |
p.Gly others(13): Show |
FAM98B | ENSG00000171262.11 | transcript | ENST00000397609.6 | protein_coding | 8/8 | 1304/4388 | 1269/1302 | 423/433 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
FAM98C_chr19_38398093_38414084 | 38412083 | TTTGTTGT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00609.hp1 HG01109.hp1 HG01884.hp2 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0038 others(8): Show |
30 | 100 | 0.3000 | -9 | c.*32 others(20): Show |
FAM98C | ENSG00000130244.13 | transcript | ENST00000252530.10 | protein_coding | 3000 | chr19 | TogoVar | |||||||
FAM9A_chrX_8785795_8806383 | 8802989 | AAAATAAA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01516.hp2 HG01517.hp2 others(14): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0009 | a0001c0001t0001a0002c0002t0001a0007c0009t0001 | a0001c0001t0001g0004 a0002c0002t0001g0012 a0002c0002t0001g0018 others(2): Show |
17 | 301 | 0.0565 | -9 | c.-17 others(20): Show |
FAM9A | ENSG00000183304.10 | transcript | ENST00000381003.7 | protein_coding | 1607 | chrX | TogoVar | |||||||
FAM9B_chrX_9019232_9039127 | 9021415 | AATATATT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG02004.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 252 | 0.0079 | -9 | c.*39 others(20): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 2816 | chrX | TogoVar | |||||||
FAM9B_chrX_9019232_9039127 | 9034702 | GTTGTTGT others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00642.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 252 | 0.0079 | -9 | c.-94 others(18): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 576 | chrX | TogoVar | |||||||
FAM9B_chrX_9019232_9039127 | 9034705 | GTTGTTAT others(2): Show |
G | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02897.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0002g0005 others(1): Show |
4 | 252 | 0.0159 | -9 | c.-95 others(18): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 579 | chrX | TogoVar | |||||||
FAM9B_chrX_9019232_9039127 | 9034708 | GTTATTAT others(2): Show |
G | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02559.hp2 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 4 | 199 | 0.0201 | -9 | c.-95 others(18): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 582 | chrX | TogoVar | |||||||
FAN1_chr15_30898915_30948108 | 30929643 | AATATATA others(2): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(9): Show |
a0001a0008a0009 | a0001c0004a0008c0010a0009c0012 | a0001c0004t0002a0001c0004t0007a0008c0010t0002others(1): Show | a0001c0004t0002g0004 a0001c0004t0007g0004 a0001c0004t0007g0032 others(3): Show |
12 | 302 | 0.0397 | -9 | c.278 others(26): Show |
FAN1 | ENSG00000198690.10 | transcript | ENST00000362065.9 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
FANCA_chr16_89732549_89821647 | 89733799 | GTGGTGTC others(2): Show |
G | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02280.hp1 HG02559.hp1 others(7): Show |
a0006a0029 | a0006c0007a0006c0056a0029c0049 | a0006c0007t0004a0006c0007t0009a0006c0056t0004others(1): Show | a0006c0007t0004g0309 a0006c0007t0004g0310 a0006c0007t0004g0313 others(7): Show |
10 | 332 | 0.0301 | -9 | c.*47 others(20): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 3749 | chr16 | TogoVar | |||||||
FANCC_chr9_95094054_95322709 | 95311233 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG03654.hp2 NA18940.hp2 NA18963.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0014 | a0001c0001t0005g0003 a0001c0001t0005g0004 a0001c0001t0005g0005 others(6): Show |
9 | 184 | 0.0489 | -9 | c.-79 others(26): Show |
FANCC | ENSG00000158169.14 | transcript | ENST00000289081.8 | protein_coding | 1/14 | chr9 | TogoVar | |||||||
FANCD2OS_chr3_10098937_10113255 | 10105770 | AATTATAT others(2): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01106.hp1 HG01106.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0018 |
12 | 271 | 0.0443 | -9 | c.-8- others(22): Show |
FANCD2OS | ENSG00000163705.13 | transcript | ENST00000450660.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
FANCD2_chr3_10021437_10106932 | 10051409 | AAAAAGGA others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG01255.hp1 HG01257.hp1 others(24): Show |
a0002 | a0002c0002a0002c0020 | a0002c0002t0002a0002c0002t0005a0002c0002t0006others(2): Show | a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0181 others(24): Show |
27 | 240 | 0.1125 | -9 | c.154 others(26): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 17/43 | chr3 | TogoVar | |||||||
FANCD2_chr3_10021437_10106932 | 10105770 | AATTATAT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01070.hp2 HG03688.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0018 | a0001c0001t0001g0016 a0001c0001t0001g0067 a0001c0001t0004g0045 others(2): Show |
5 | 197 | 0.0254 | -9 | c.*45 others(20): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 3839 | chr3 | TogoVar | |||||||
FANCI_chr15_89238979_89322131 | 89245334 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01515.hp2 HG01952.hp2 others(13): Show |
a0001a0002a0004others(1): Show | a0001c0003a0002c0002a0004c0005others(1): Show | a0001c0003t0003a0002c0002t0002a0004c0005t0001others(1): Show | a0001c0003t0003g0008 a0001c0003t0003g0280 a0001c0003t0003g0282 others(12): Show |
16 | 48 | 0.3333 | -9 | c.-20 others(26): Show |
FANCI | ENSG00000140525.20 | transcript | ENST00000310775.12 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
FANCI_chr15_89238979_89322131 | 89279141 | TTTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG01952.hp2 HG02109.hp2 others(22): Show |
a0001a0012a0014 | a0001c0003a0001c0021a0012c0027others(1): Show | a0001c0003t0003a0001c0003t0008a0001c0003t0011others(3): Show | a0001c0003t0003g0008 a0001c0003t0003g0018 a0001c0003t0003g0280 others(21): Show |
25 | 231 | 0.1082 | -9 | c.138 others(26): Show |
FANCI | ENSG00000140525.20 | transcript | ENST00000310775.12 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
FANCM_chr14_45130930_45205890 | 45141287 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01358.hp1 HG01884.hp1 HG02257.hp1 others(8): Show |
a0002a0022 | a0002c0003a0002c0007a0022c0030 | a0002c0003t0001a0002c0007t0003a0022c0030t0001 | a0002c0003t0001g0014 a0002c0003t0001g0165 a0002c0003t0001g0166 others(8): Show |
11 | 164 | 0.0671 | -9 | c.759 others(24): Show |
FANCM | ENSG00000187790.12 | transcript | ENST00000267430.10 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FANK1_chr10_125891564_126014592 | 125934724 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG02258.hp1 HG02523.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0055 a0001c0001t0001g0119 a0001c0001t0001g0155 others(8): Show |
11 | 38 | 0.2895 | -9 | c.13+ others(26): Show |
FANK1 | ENSG00000203780.12 | transcript | ENST00000368693.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
FAP_chr2_162165684_162248445 | 162179804 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG00738.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0055 a0001c0001t0001g0074 a0001c0001t0001g0098 others(22): Show |
27 | 232 | 0.1164 | -9 | c.186 others(28): Show |
FAP | ENSG00000078098.15 | transcript | ENST00000188790.9 | protein_coding | 21/25 | chr2 | TogoVar | |||||||
FAP_chr2_162165684_162248445 | 162245785 | TATGTTCT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00621.hp1 HG00738.hp1 HG01069.hp1 others(37): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0008 | a0001c0001t0001a0001c0002t0001a0004c0008t0001 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(34): Show |
40 | 232 | 0.1724 | -9 | c.-24 others(20): Show |
FAP | ENSG00000078098.15 | transcript | ENST00000188790.9 | protein_coding | 2341 | chr2 | TogoVar | |||||||
FAR1_chr11_13663668_13737346 | 13704465 | CTTAAGAA others(2): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 HG02572.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0179 a0001c0001t0007g0180 a0001c0001t0007g0181 others(1): Show |
4 | 350 | 0.0114 | -9 | c.366 others(26): Show |
FAR1 | ENSG00000197601.14 | transcript | ENST00000354817.8 | protein_coding | 3/11 | chr11 | TogoVar | |||||||
FAR2_chr12_29144278_29340616 | 29264671 | GAGAGGAG others(2): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02622.hp2 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0007 | a0001c0002t0001g0086 a0001c0002t0007g0263 a0001c0002t0007g0285 |
3 | 324 | 0.0093 | -9 | c.-38 others(26): Show |
FAR2 | ENSG00000064763.12 | transcript | ENST00000536681.8 | protein_coding | 1/11 | chr12 | TogoVar | |||||||
FARP1_chr13_98138094_98460176 | 98309153 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00673.hp1 HG00673.hp2 others(36): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(24): Show | a0001c0001t0003g0055 a0001c0001t0004g0188 a0001c0001t0005g0047 others(36): Show |
39 | 59 | 0.6610 | -9 | c.172 others(28): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FARP1_chr13_98138094_98460176 | 98379037 | ATACAATA others(2): Show |
A | intron_variant | MODIFIER | HG03209.hp1 HG03225.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0045a0001c0002t0058 | a0001c0001t0045g0019 a0001c0002t0058g0072 |
2 | 216 | 0.0093 | -9 | c.496 others(26): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FARP1_chr13_98138094_98460176 | 98379042 | ATATGTAA others(2): Show |
A | intron_variant | MODIFIER | HG01071.hp2 HG01358.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0023 | a0001c0001t0011g0120 a0001c0001t0023g0003 |
2 | 216 | 0.0093 | -9 | c.496 others(26): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FARP2_chr2_241351285_241499841 | 241490443 | CCCAGCCC others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00621.hp1 others(89): Show |
a0001a0005a0006others(2): Show | a0001c0001a0005c0014a0006c0009others(2): Show | a0001c0001t0001a0001c0001t0004a0005c0014t0001others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0142 a0001c0001t0001g0201 others(89): Show |
92 | 376 | 0.2447 | -9 | c.250 others(26): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5283766 | CTGTATCA others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02257.hp2 HG02451.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0094 a0001c0001t0002g0148 others(7): Show |
10 | 168 | 0.0595 | -9 | c.-22 others(28): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5341224 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG02922.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0088 a0001c0001t0002g0132 a0001c0001t0002g0134 |
3 | 167 | 0.0180 | -9 | c.-21 others(28): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
FARS2_chr6_5256513_5776583 | 5399127 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01257.hp1 HG01496.hp1 others(9): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(1): Show | a0001c0001t0001g0046 a0001c0001t0001g0059 a0001c0001t0001g0071 others(9): Show |
12 | 107 | 0.1122 | -9 | c.613 others(26): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5399168 | TATTATTA others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG01106.hp2 HG01258.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 others(12): Show |
15 | 165 | 0.0909 | -9 | c.613 others(26): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5444487 | AAAAAAAG others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(48): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 others(48): Show |
51 | 139 | 0.3669 | -9 | c.904 others(28): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5467492 | TAAAATAT others(2): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG02109.hp2 HG02647.hp1 others(1): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0011 | a0001c0001t0002a0001c0004t0002a0003c0011t0001 | a0001c0001t0002g0118 a0001c0001t0002g0157 a0001c0004t0002g0095 others(1): Show |
4 | 168 | 0.0238 | -9 | c.904 others(28): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 4/6 | chr6 | TogoVar | |||||||
FARS2_chr6_5256513_5776583 | 5532780 | TAATAAGA others(2): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02280.hp2 HG02451.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0130 others(2): Show |
5 | 139 | 0.0360 | -9 | c.905 others(28): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5601524 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG04199.hp1 HG04228.hp2 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0021 a0001c0001t0002g0161 a0002c0002t0001g0043 others(3): Show |
6 | 28 | 0.2143 | -9 | c.106 others(30): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5776310 | GAGTTTTC others(2): Show |
G | downstream_gene_variant | MODIFIER | HG02895.hp2 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 a0001c0001t0001g0093 |
2 | 168 | 0.0119 | -9 | c.*48 others(20): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 4728 | chr6 | TogoVar | |||||||
FASTKD1_chr2_169523508_169578865 | 169547884 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG01099.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0012 a0001c0001t0001g0183 a0001c0001t0001g0184 others(12): Show |
18 | 76 | 0.2368 | -9 | c.121 others(28): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 7/14 | chr2 | TogoVar | |||||||
FASTKD1_chr2_169523508_169578865 | 169554278 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG01358.hp2 HG01433.hp2 others(36): Show |
a0001a0002a0005others(1): Show | a0001c0006a0001c0007a0002c0002others(3): Show | a0001c0006t0001a0001c0007t0001a0002c0002t0002others(3): Show | a0001c0006t0001g0149 a0001c0006t0001g0150 a0001c0006t0001g0151 others(33): Show |
39 | 41 | 0.9512 | -9 | c.121 others(26): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 7/14 | chr2 | TogoVar | |||||||
FASTKD2_chr2_206760606_206801189 | 206781304 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02622.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0013a0002c0002t0013a0002c0002t0032others(1): Show | a0001c0001t0013g0245 a0001c0001t0013g0246 a0001c0001t0013g0247 others(5): Show |
9 | 97 | 0.0928 | -9 | c.142 others(28): Show |
FASTKD2 | ENSG00000118246.14 | transcript | ENST00000402774.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FASTKD2_chr2_206760606_206801189 | 206793220 | CAAAAAAA others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02273.hp1 HG02630.hp1 HG02647.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0039a0001c0001t0056a0002c0002t0024others(3): Show | a0001c0001t0039g0025 a0001c0001t0039g0179 a0001c0001t0056g0215 others(6): Show |
9 | 141 | 0.0638 | -9 | c.*14 others(20): Show |
FASTKD2 | ENSG00000118246.14 | transcript | ENST00000402774.8 | protein_coding | 12/12 | 1441 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
FAT1_chr4_186582794_186728856 | 186679416 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01081.hp1 HG01891.hp1 others(3): Show |
a0019a0020a0073others(1): Show | a0019c0108a0020c0048a0020c0121others(2): Show | a0019c0108t0015a0020c0048t0031a0020c0121t0050others(2): Show | a0019c0108t0015g0005 a0020c0048t0031g0117 a0020c0048t0031g0118 others(3): Show |
6 | 187 | 0.0321 | -9 | c.326 others(30): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 2/26 | chr4 | TogoVar | |||||||
FAT2_chr5_151499092_151596331 | 151537343 | GAAAAGAA others(2): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00597.hp1 others(98): Show |
a0001a0002a0003others(26): Show | a0001c0003a0001c0004a0001c0010others(53): Show | a0001c0003t0001a0001c0004t0001a0001c0010t0001others(63): Show | a0001c0003t0001g0124 a0001c0003t0001g0136 a0001c0003t0001g0258 others(98): Show |
101 | 396 | 0.2551 | -9 | c.919 others(26): Show |
FAT2 | ENSG00000086570.13 | transcript | ENST00000261800.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
FAT3_chr11_92219818_92901473 | 92251719 | AGTGCCTA others(2): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG00741.hp1 others(45): Show |
a0001a0002a0003others(20): Show | a0001c0002a0001c0005a0001c0014others(37): Show | a0001c0002t0079a0001c0002t0080a0001c0002t0081others(45): Show | a0001c0002t0079g0009 a0001c0002t0080g0003 a0001c0002t0081g0011 others(45): Show |
48 | 116 | 0.4138 | -9 | c.-18 others(28): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92306630 | TTATATTA others(2): Show |
T | intron_variant | MODIFIER | HG01978.hp2 HG02258.hp2 HG03098.hp2 others(1): Show |
a0001a0008 | a0001c0006a0001c0036a0001c0050others(1): Show | a0001c0006t0028a0001c0036t0015a0001c0050t0086others(1): Show | a0001c0006t0028g0034 a0001c0036t0015g0036 a0001c0050t0086g0025 others(1): Show |
4 | 116 | 0.0345 | -9 | c.-17 others(28): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92350737 | TAGGATTA others(2): Show |
T | intron_variant | MODIFIER | HG01169.hp1 HG01243.hp1 HG01884.hp2 others(10): Show |
a0007a0010a0021others(6): Show | a0007c0076a0007c0077a0007c0078others(10): Show | a0007c0076t0002a0007c0077t0057a0007c0078t0002others(10): Show | a0007c0076t0002g0062 a0007c0077t0057g0081 a0007c0078t0002g0065 others(10): Show |
13 | 116 | 0.1121 | -9 | c.-17 others(26): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92657278 | GCCCAGTA others(2): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG02280.hp1 NA18522.hp1 others(1): Show |
a0015a0020a0043others(1): Show | a0015c0059a0020c0034a0043c0057others(1): Show | a0015c0059t0088a0020c0034t0049a0043c0057t0031others(1): Show | a0015c0059t0088g0015 a0020c0034t0049g0076 a0043c0057t0031g0096 others(1): Show |
4 | 116 | 0.0345 | -9 | c.360 others(30): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92878659 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG02080.hp2 HG02630.hp2 others(3): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0014a0002c0001others(3): Show | a0001c0002t0079a0001c0014t0035a0002c0001t0003others(3): Show | a0001c0002t0079g0009 a0001c0014t0035g0113 a0002c0001t0003g0027 others(3): Show |
6 | 116 | 0.0517 | -9 | c.121 others(30): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 22/27 | chr11 | TogoVar | |||||||
FBH1_chr10_5885243_5942593 | 5939797 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00597.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0043 a0001c0001t0002g0015 a0001c0001t0002g0165 others(23): Show |
29 | 221 | 0.1312 | -9 | c.*25 others(20): Show |
FBH1 | ENSG00000134452.20 | transcript | ENST00000362091.9 | protein_coding | 2205 | chr10 | TogoVar | |||||||
FBLN1_chr22_45497883_45606135 | 45518127 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01433.hp2 HG01884.hp2 others(12): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0189 a0001c0001t0001g0332 a0001c0001t0001g0338 others(12): Show |
15 | 59 | 0.2542 | -9 | c.80- others(22): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FBLN1_chr22_45497883_45606135 | 45569642 | AAAGAAGA others(2): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01516.hp1 HG02559.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0261 a0001c0001t0002g0096 a0001c0001t0009g0251 others(4): Show |
7 | 70 | 0.1000 | -9 | c.169 others(28): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FBLN1_chr22_45497883_45606135 | 45596864 | CTTTAAAC others(2): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02965.hp1 HG03130.hp1 others(2): Show |
a0001a0003 | a0001c0004a0001c0006a0001c0013others(1): Show | a0001c0004t0001a0001c0006t0001a0001c0013t0001others(1): Show | a0001c0004t0001g0316 a0001c0006t0001g0192 a0001c0006t0001g0313 others(2): Show |
5 | 344 | 0.0145 | -9 | c.197 others(28): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FBLN2_chr3_13544125_13643404 | 13625772 | AGGGATCC others(2): Show |
A | intron_variant | MODIFIER | HG02970.hp2 HG03139.hp1 HG03139.hp2 others(4): Show |
a0001a0002a0006others(1): Show | a0001c0004a0002c0002a0006c0020others(1): Show | a0001c0004t0005a0002c0002t0005a0006c0020t0009others(1): Show | a0001c0004t0005g0247 a0001c0004t0005g0248 a0002c0002t0005g0299 others(4): Show |
7 | 310 | 0.0226 | -9 | c.229 others(26): Show |
FBLN2 | ENSG00000163520.14 | transcript | ENST00000404922.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |