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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EXT1_chr8_117789490_118116826 | 118073618 | G | GAGAAGAG others(2): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02572.hp2 HG02809.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0012a0001c0001t0024a0001c0001t0063others(1): Show | a0001c0001t0012g0173a0001c0001t0012g0174a0001c0001t0024g0176others(3): Show | 6 | 190 | 0.0316 | 9 | c.962 others(28): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118090778 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02523.hp2 HG02602.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005a0001c0011 | a0001c0001t0001a0001c0001t0005a0001c0005t0059others(1): Show | a0001c0001t0001g0022a0001c0001t0005g0021a0001c0001t0005g0041others(3): Show | 6 | 190 | 0.0316 | 9 | c.962 others(28): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47039835 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02257.hp1 HG02572.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0237a0001c0001t0002g0019a0001c0001t0003g0036others(3): Show | 6 | 238 | 0.0252 | 9 | c.415 others(28): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47112862 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01106.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0002g0188a0001c0001t0002g0202a0001c0001t0002g0232others(13): Show | 16 | 238 | 0.0672 | 9 | c.888 others(28): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
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 | a0001c0001t0001g0035a0001c0001t0001g0155a0001c0001t0002g0043others(17): Show | 20 | 238 | 0.0840 | 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 | a0001c0001t0002g0019a0001c0001t0002g0058a0001c0001t0002g0210others(13): Show | 16 | 238 | 0.0672 | 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 | a0001c0001t0001g0087a0001c0001t0001g0117a0001c0001t0001g0193others(1): Show | 4 | 238 | 0.0168 | 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 | a0001c0001t0003a0001c0001t0005a0001c0001t0013others(2): Show | a0001c0001t0003g0008a0001c0001t0003g0009a0001c0001t0003g0010others(19): Show | 22 | 392 | 0.0561 | 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 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0100a0001c0001t0003g0039a0001c0001t0003g0040others(4): Show | 7 | 392 | 0.0179 | 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 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0141a0001c0001t0001g0166a0001c0001t0001g0167others(2): Show | 5 | 392 | 0.0128 | 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 | a0001c0001t0002a0001c0001t0005a0001c0001t0009 | a0001c0001t0002g0005a0001c0001t0002g0095a0001c0001t0002g0205others(8): Show | 11 | 392 | 0.0281 | 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(32): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0057a0001c0001t0001g0058a0001c0001t0001g0060others(32): Show | 35 | 264 | 0.1326 | 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 | a0001c0001t0001g0060a0001c0001t0001g0075a0001c0001t0001g0078others(12): Show | 15 | 264 | 0.0568 | 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 | a0001c0001t0011g0086a0002c0002t0001g0030a0002c0002t0001g0061others(3): Show | 6 | 264 | 0.0227 | 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 | a0001c0001t0013g0115a0001c0001t0013g0117a0001c0001t0016g0050others(4): Show | 7 | 264 | 0.0265 | 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 |
a0001a0006 | a0001c0012a0006c0022 | a0001c0012t0002a0006c0022t0001 | a0001c0012t0002g0021a0006c0022t0001g0011 | 2 | 24 | 0.0833 | 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 |
a0002a0011a0016others(1): Show | a0002c0008a0002c0021a0011c0001others(2): Show | a0002c0008t0002a0002c0021t0001a0011c0001t0001others(2): Show | a0002c0008t0002g0020a0002c0021t0001g0008a0011c0001t0001g0013others(2): Show | 5 | 24 | 0.2083 | 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 |
a0001a0003a0006 | a0001c0012a0003c0019a0006c0022 | a0001c0012t0002a0003c0019t0001a0006c0022t0001 | a0001c0012t0002g0021a0003c0019t0001g0006a0006c0022t0001g0011 | 3 | 24 | 0.1250 | 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 |
a0001a0006a0012 | a0001c0009a0006c0022a0012c0005 | a0001c0009t0001a0006c0022t0001a0012c0005t0001 | a0001c0009t0001g0012a0006c0022t0001g0011a0012c0005t0001g0014 | 3 | 24 | 0.1250 | 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 | a0001c0001t0001g0022a0001c0001t0001g0048a0001c0001t0001g0049others(18): Show | 21 | 380 | 0.0553 | 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 |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0002a0001c0001t0006a0001c0001t0016others(2): Show | a0001c0001t0002g0004a0001c0001t0002g0180a0001c0001t0002g0181others(20): Show | 24 | 312 | 0.0769 | 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 | a0001c0002t0001g0037a0001c0002t0001g0081a0001c0002t0001g0137others(5): Show | 8 | 412 | 0.0194 | 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 | a0001c0001t0001g0007a0001c0001t0001g0016a0001c0001t0001g0034others(27): Show | 37 | 392 | 0.0944 | 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 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0021others(52): Show | 69 | 392 | 0.1760 | 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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(38): Show | 106 | 454 | 0.2335 | 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 | a0001c0001t0001g0015a0001c0001t0001g0047a0001c0001t0001g0048others(41): Show | 44 | 292 | 0.1507 | 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 | a0001c0001t0001g0032a0001c0001t0001g0232a0001c0001t0001g0239others(4): Show | 7 | 292 | 0.0240 | 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 | a0003c0004t0003g0009a0004c0005t0004g0032 | 6 | 342 | 0.0175 | 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 | a0003c0014t0004g0041a0004c0005t0004g0032a0004c0005t0004g0123 | 4 | 342 | 0.0117 | 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 | a0002c0003t0001g0013a0002c0003t0001g0015a0004c0007t0003g0012others(4): Show | 7 | 306 | 0.0229 | 9 | c.-11 others(20): Show |
F5 | ENSG00000198734.12 | transcript | ENST00000367797.9 | protein_coding | 1081 | chr1 | TogoVar | ||||||
F8A1_chrX_154881355_154893061 | 154888380 | A | ATTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG03942.hp1 NA18980.hp1 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0000a0004c0005t0001g0000 | 2 | 325 | 0.0062 | 9 | c.*89 others(18): Show |
F8A1 | ENSG00000288722.1 | transcript | ENST00000610495.2 | protein_coding | 320 | chrX | 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 | a0001c0001t0001g0000a0001c0001t0002g0000 | 6 | 270 | 0.0222 | 9 | c.*91 others(18): Show |
F8A3 | ENSG00000277150.2 | transcript | ENST00000622749.2 | protein_coding | 344 | chrX | TogoVar | ||||||
F8_chrX_154830792_155027723 | 154888380 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 233 | 0.0043 | 9 | c.642 others(28): Show |
F8 | ENSG00000185010.15 | transcript | ENST00000360256.9 | protein_coding | 22/25 | 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 | a0001c0001t0001g0026a0001c0001t0001g0049a0001c0001t0001g0266others(6): Show | 10 | 388 | 0.0258 | 9 | c.271 others(24): Show |
FA2H | ENSG00000103089.9 | transcript | ENST00000219368.8 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
FAAH2_chrX_57281706_57494193 | 57288338 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG03453.hp2 NA19240.hp2 NA20129.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0259a0001c0003t0001g0260a0001c0003t0001g0261 | 3 | 282 | 0.0106 | 9 | c.192 others(26): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FAAH2_chrX_57281706_57494193 | 57431771 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0262 | 1 | 282 | 0.0036 | 9 | c.997 others(24): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FAAH2_chrX_57281706_57494193 | 57431779 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02723.hp2 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039a0001c0001t0001g0125 | 2 | 282 | 0.0071 | 9 | c.997 others(24): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FAAH2_chrX_57281706_57494193 | 57431787 | G | GTTTTTTG others(2): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0188 | 1 | 282 | 0.0036 | 9 | c.997 others(24): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FAAH2_chrX_57281706_57494193 | 57431787 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG03710.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0165a0001c0002t0002g0202 | 2 | 282 | 0.0071 | 9 | c.997 others(24): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FAAH2_chrX_57281706_57494193 | 57431787 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(218): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0010others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0014others(217): Show | 221 | 282 | 0.7837 | 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 | a0001c0001t0002g0002a0001c0001t0002g0018a0001c0001t0002g0048others(6): Show | 95 | 420 | 0.2262 | 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 | a0001c0001t0001g0004a0001c0001t0001g0020a0001c0001t0001g0021others(22): Show | 26 | 280 | 0.0929 | 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 | a0001c0001t0001g0004a0001c0001t0001g0024a0001c0001t0001g0049others(10): Show | 14 | 280 | 0.0500 | 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 | a0001c0001t0001g0039a0001c0001t0002g0120 | 3 | 418 | 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(5): Show | a0001c0001a0001c0011a0002c0002others(10): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(19): Show | a0001c0001t0003g0011a0001c0001t0003g0024a0001c0001t0003g0103others(45): Show | 52 | 440 | 0.1182 | 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 | a0001c0001t0004g0062a0001c0001t0004g0065a0001c0001t0004g0066others(4): Show | 7 | 190 | 0.0368 | 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 | a0001c0001t0001g0057a0001c0001t0001g0166a0001c0001t0001g0172others(2): Show | 5 | 190 | 0.0263 | 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 | a0001c0001t0001g0085a0001c0001t0001g0087a0001c0001t0001g0089others(9): Show | 12 | 190 | 0.0632 | 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 | a0001c0001t0003g0075a0001c0001t0003g0078a0001c0001t0004g0256others(21): Show | 25 | 372 | 0.0672 | 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 | a0001c0001t0001g0000a0001c0001t0006g0000 | 17 | 448 | 0.0380 | 9 | c.*42 others(20): Show |
FAHD1 | ENSG00000180185.13 | transcript | ENST00000427358.5 | protein_coding | 3269 | chr16 | TogoVar |