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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENOSF1_chr18_665318_717630 | 667457 | TGATGGAG others(33): Show |
T | downstream_gene_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0185 | 1 | 407 | 0.0025 | -40 | c.*68 others(51): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2860 | chr18 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43247847 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG01515.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0065 a0001c0001t0004g0088 |
2 | 186 | 0.0108 | -40 | c.161 others(61): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 14/16 | chr13 | TogoVar | |||||||
ENPP3_chr6_131632302_131752410 | 131678930 | TTTCTTTC others(33): Show |
T | intron_variant | MODIFIER | HG01952.hp2 HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0175 |
3 | 272 | 0.0110 | -40 | c.101 others(58): Show |
ENPP3 | ENSG00000154269.15 | transcript | ENST00000357639.8 | protein_coding | 11/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ENPP6_chr4_184083706_184222873 | 184207156 | ATATACTG others(33): Show |
A | intron_variant | MODIFIER | NA18994.hp2 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0170 | 1 | 318 | 0.0031 | -40 | c.241 others(59): Show |
ENPP6 | ENSG00000164303.11 | transcript | ENST00000296741.7 | protein_coding | 1/7 | chr4 | TogoVar | |||||||
EP300_chr22_41087592_41185077 | 41167584 | GTATATAT others(33): Show |
G | intron_variant | MODIFIER | HG03017.hp2 HG03490.hp1 HG03492.hp1 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0049 a0002c0003t0002g0050 a0002c0003t0002g0133 |
3 | 187 | 0.0160 | -40 | c.387 others(57): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
EP400_chr12_131944942_132085460 | 132080746 | CACTGGCA others(33): Show |
C | downstream_gene_variant | MODIFIER | NA18993.hp2 NA19010.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0023 a0001c0003t0002g0024 |
2 | 192 | 0.0104 | -40 | c.*30 others(51): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 287 | chr12 | TogoVar | |||||||
EPHA5_chr4_65314567_65675489 | 65465520 | AAAGAAAG others(33): Show |
A | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0135 | 1 | 232 | 0.0043 | -40 | c.140 others(61): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 5/16 | chr4 | TogoVar | |||||||
EPHA5_chr4_65314567_65675489 | 65574679 | CATATATA others(33): Show |
C | intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0002 | a0001c0002t0051 | a0001c0002t0051g0230 | 1 | 119 | 0.0084 | -40 | c.910 others(59): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 3/16 | chr4 | TogoVar | |||||||
EPN3_chr17_50527735_50548750 | 50534116 | TCCCTTCT others(33): Show |
T | intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 348 | 0.0029 | -40 | c.-13 others(59): Show |
EPN3 | ENSG00000049283.19 | transcript | ENST00000268933.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EPSTI1_chr13_42881388_42997241 | 42966326 | CTAGGAAG others(33): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG01069.hp1 others(48): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(19): Show | a0001c0001t0002g0198 a0001c0001t0002g0217 a0001c0001t0002g0281 others(47): Show |
51 | 350 | 0.1457 | -40 | c.332 others(57): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 3/10 | chr13 | TogoVar | |||||||
ERAP1_chr5_96769484_96812945 | 96808187 | CGTGTGTG others(33): Show |
C | upstream_gene_variant | MODIFIER | HG02976.hp2 NA19030.hp2 NA19240.hp2 |
a0001 | a0001c0015 | a0001c0015t0010 | a0001c0015t0010g0261 a0001c0015t0010g0262 a0001c0015t0010g0263 |
3 | 39 | 0.0769 | -40 | c.-38 others(49): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 243 | chr5 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211622988 | AAAATATA others(33): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02717.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009a0001c0001t0017others(1): Show | a0001c0001t0007g0018 a0001c0001t0009g0046 a0001c0001t0017g0029 others(1): Show |
4 | 47 | 0.0851 | -40 | c.220 others(57): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 18/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212015041 | AATATATA others(33): Show |
A | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0055 | 1 | 34 | 0.0294 | -40 | c.235 others(59): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | |||||||
ERC1_chr12_986223_1500931 | 1121640 | GATCTCTA others(33): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0077 | a0001c0001t0004g0015 a0001c0001t0077g0049 |
2 | 140 | 0.0143 | -40 | c.156 others(59): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1122589 | ATCTCTAT others(33): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG01261.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0006a0001c0001t0012others(8): Show | a0001c0001t0005g0118 a0001c0001t0005g0161 a0001c0001t0006g0113 others(11): Show |
14 | 160 | 0.0875 | -40 | c.156 others(59): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1138171 | GTATATAA others(33): Show |
G | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0066 | 1 | 160 | 0.0063 | -40 | c.157 others(59): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1196905 | TACACACA others(33): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01358.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0086a0002c0002t0009others(12): Show | a0001c0001t0001g0086 a0001c0001t0086g0095 a0002c0002t0009g0149 others(16): Show |
19 | 52 | 0.3654 | -40 | c.235 others(59): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1243353 | AAGATACT others(33): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01257.hp1 HG01358.hp2 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0013a0001c0001t0020others(17): Show | a0001c0001t0001g0086 a0001c0001t0013g0041 a0001c0001t0020g0141 others(21): Show |
24 | 160 | 0.1500 | -40 | c.248 others(59): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55720203 | TTCTTCTT others(33): Show |
T | intron_variant | MODIFIER | HG03098.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0007 a0001c0001t0007g0024 |
2 | 62 | 0.0323 | -40 | c.271 others(61): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 15/17 | chr3 | TogoVar | |||||||
ERCC6_chr10_49449470_49544121 | 49507920 | AGATATAT others(33): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(353): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0004a0001c0005others(36): Show | a0001c0001t0002a0001c0001t0019a0001c0001t0023others(61): Show | a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0009 others(291): Show |
356 | 386 | 0.9223 | -40 | c.139 others(59): Show |
ERCC6 | ENSG00000225830.16 | transcript | ENST00000355832.10 | protein_coding | 5/20 | chr10 | TogoVar | |||||||
ERFL_chr19_41902704_41933449 | 41914819 | TGTCTCCC others(33): Show |
T | intron_variant | MODIFIER | HG01952.hp2 NA18945.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0204 a0001c0001t0003g0221 |
2 | 319 | 0.0063 | -40 | c.-13 others(57): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ERG_chr21_38375036_38503477 | 38429515 | ATACATGT others(33): Show |
A | intron_variant | MODIFIER | HG02572.hp1 NA19043.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0350 a0001c0001t0011g0205 a0001c0001t0011g0320 |
3 | 358 | 0.0084 | -40 | c.237 others(57): Show |
ERG | ENSG00000157554.20 | transcript | ENST00000288319.12 | protein_coding | 2/9 | chr21 | TogoVar | |||||||
ERI3_chr1_44216070_44360257 | 44342821 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0320 | 1 | 338 | 0.0030 | -40 | c.212 others(57): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
ERICH5_chr8_98059568_98098609 | 98073476 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG03130.hp2 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0037 a0001c0001t0002g0246 |
2 | 421 | 0.0048 | -40 | c.58+ others(55): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ERO1B_chr1_236210101_236286958 | 236245524 | GTGTATAT others(33): Show |
G | intron_variant | MODIFIER | HG03225.hp2 NA19075.hp1 |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0001a0008c0011t0071 | a0001c0001t0001g0085 a0008c0011t0071g0023 |
2 | 389 | 0.0051 | -40 | c.432 others(57): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 5/15 | chr1 | TogoVar | |||||||
ERV3-1_chr7_64985356_65011687 | 64989443 | TTATATAT others(33): Show |
T | downstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 71 | 0.0141 | -40 | c.*17 others(51): Show |
ERV3-1 | ENSG00000213462.5 | transcript | ENST00000394323.3 | protein_coding | 912 | chr7 | TogoVar | |||||||
ESCO1_chr18_21524284_21605704 | 21592719 | TGGCTGCC others(33): Show |
T | intron_variant | MODIFIER | HG01069.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0239 | 1 | 308 | 0.0032 | -40 | c.-82 others(59): Show |
ESCO1 | ENSG00000141446.11 | transcript | ENST00000269214.10 | protein_coding | 1/11 | chr18 | TogoVar | |||||||
ESCO1_chr18_21524284_21605704 | 21593008 | ACGCTCCT others(33): Show |
A | intron_variant | MODIFIER | HG02273.hp2 NA18940.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0145 a0002c0002t0001g0275 |
2 | 308 | 0.0065 | -40 | c.-82 others(59): Show |
ESCO1 | ENSG00000141446.11 | transcript | ENST00000269214.10 | protein_coding | 1/11 | chr18 | TogoVar | |||||||
ESF1_chr20_13709325_13789919 | 13760524 | ACCCCGTC others(33): Show |
A | intron_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0166 | 1 | 388 | 0.0026 | -40 | c.166 others(57): Show |
ESF1 | ENSG00000089048.15 | transcript | ENST00000617257.2 | protein_coding | 8/13 | chr20 | TogoVar | |||||||
ESRRG_chr1_216498251_216728429 | 216658848 | AAGAAGAG others(33): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0026 | 1 | 42 | 0.0238 | -40 | c.473 others(57): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 2/6 | chr1 | TogoVar | |||||||
ETS2_chr21_38800929_38829955 | 38816002 | GGAAGGAA others(33): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp2 others(37): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(24): Show |
40 | 424 | 0.0943 | -40 | c.506 others(56): Show |
ETS2 | ENSG00000157557.13 | transcript | ENST00000360938.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 601282 | GTGCGAAT others(33): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02257.hp1 HG02257.hp2 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0007t0003 | a0001c0001t0002g0189 a0001c0001t0002g0197 a0001c0001t0002g0227 others(1): Show |
4 | 270 | 0.0148 | -40 | c.743 others(57): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 7/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 602242 | GTGCGAAT others(33): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG02717.hp1 HG02723.hp1 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0003g0217 a0001c0001t0005g0024 a0001c0001t0007g0212 others(2): Show |
5 | 234 | 0.0214 | -40 | c.743 others(57): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 7/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 602406 | GAATCCAC others(33): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG02257.hp1 HG02451.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0131 a0001c0001t0002g0188 a0001c0001t0002g0197 others(9): Show |
12 | 269 | 0.0446 | -40 | c.743 others(57): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 7/27 | chr6 | TogoVar | |||||||
EXOC4_chr7_133248078_134070761 | 133823872 | TTATATAT others(33): Show |
T | intron_variant | MODIFIER | HG01943.hp2 HG02559.hp2 NA18983.hp1 |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0001a0001c0004t0001a0001c0008t0015 | a0001c0001t0001g0033 a0001c0004t0001g0062 a0001c0008t0015g0078 |
3 | 98 | 0.0306 | -40 | c.173 others(59): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | chr7 | TogoVar | |||||||
EXOC4_chr7_133248078_134070761 | 133857285 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG02055.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 a0001c0001t0001g0077 |
2 | 100 | 0.0200 | -40 | c.173 others(61): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133950445 | ACATCTTC others(33): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG03041.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006 | a0001c0001t0002g0100 a0001c0001t0003g0057 a0001c0001t0006g0059 |
3 | 100 | 0.0300 | -40 | c.220 others(61): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72512327 | GGAAGGAA others(33): Show |
G | intron_variant | MODIFIER | HG01256.hp1 HG02486.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0002t0002a0001c0003t0001 | a0001c0001t0003g0051 a0001c0002t0002g0065 a0001c0002t0002g0066 others(2): Show |
5 | 101 | 0.0495 | -40 | c.116 others(57): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 11/21 | chr2 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72631453 | TATATATA others(33): Show |
T | intron_variant | MODIFIER | HG01123.hp1 NA20905.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0015 | a0001c0003t0001g0085 a0001c0003t0015g0099 |
2 | 88 | 0.0227 | -40 | c.670 others(59): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 6/21 | chr2 | TogoVar | |||||||
EXOG_chr3_38491340_38531303 | 38492731 | TACACACA others(33): Show |
T | upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 135 | 0.0074 | -40 | c.-36 others(51): Show |
EXOG | ENSG00000157036.13 | transcript | ENST00000287675.10 | protein_coding | 3608 | chr3 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117858840 | GGAAGGAA others(33): Show |
G | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0186 | 1 | 185 | 0.0054 | -40 | c.963 others(59): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117858844 | GGAAAGAA others(33): Show |
G | intron_variant | MODIFIER | HG02723.hp1 HG02970.hp1 HG02976.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0012a0001c0003t0025a0001c0003t0062others(1): Show | a0001c0001t0012g0176 a0001c0003t0025g0183 a0001c0003t0025g0184 others(2): Show |
5 | 128 | 0.0391 | -40 | c.963 others(59): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EYA2_chr20_46889843_47193844 | 46987954 | CTCTCTCT others(33): Show |
C | intron_variant | MODIFIER | HG01358.hp1 HG01884.hp1 HG02109.hp2 others(5): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0007 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0024 a0001c0001t0001g0148 a0001c0001t0001g0173 others(5): Show |
8 | 230 | 0.0348 | -40 | c.-10 others(57): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 65317809 | CCTTCCTT others(33): Show |
C | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0019 | 1 | 24 | 0.0417 | -40 | c.176 others(61): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 11/42 | chr6 | TogoVar | |||||||
EZR_chr6_158760748_158824368 | 158803542 | TATGTATA others(33): Show |
T | intron_variant | MODIFIER | HG01934.hp1 HG01993.hp1 HG02273.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0072 others(1): Show |
4 | 298 | 0.0134 | -40 | c.13- others(57): Show |
EZR | ENSG00000092820.19 | transcript | ENST00000367075.4 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6316078 | CATATATA others(33): Show |
C | intron_variant | MODIFIER | HG01496.hp2 NA19003.hp1 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0032 a0001c0001t0001g0059 a0001c0001t0007g0263 |
3 | 31 | 0.0968 | -40 | c.130 others(57): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 2/14 | chr6 | TogoVar | |||||||
FAAP100_chr17_81534891_81557353 | 81542195 | AAAAAAAT others(33): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0042 | 1 | 425 | 0.0024 | -40 | c.242 others(57): Show |
FAAP100 | ENSG00000185504.17 | transcript | ENST00000327787.13 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
FAM107A_chr3_58559117_58582391 | 58574024 | CGCTTGGG others(33): Show |
C | intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0294 | 1 | 436 | 0.0023 | -40 | c.-6+ others(55): Show |
FAM107A | ENSG00000168309.18 | transcript | ENST00000360997.7 | protein_coding | 1/3 | chr3 | TogoVar | |||||||
FAM110A_chr20_828715_851277 | 844397 | CTCCCTTT others(33): Show |
C | intron_variant | MODIFIER | NA19055.hp1 | a0005 | a0005c0008 | a0005c0008t0021 | a0005c0008t0021g0124 | 1 | 434 | 0.0023 | -40 | c.-97 others(55): Show |
FAM110A | ENSG00000125898.13 | transcript | ENST00000381941.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
FAM135B_chr8_138125023_138502261 | 138425964 | CATATATA others(33): Show |
C | intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 HG01952.hp2 others(3): Show |
a0001a0002a0003 | a0001c0006a0002c0002a0003c0001 | a0001c0006t0015a0002c0002t0001a0003c0001t0007others(1): Show | a0001c0006t0015g0114 a0002c0002t0001g0007 a0002c0002t0001g0008 others(3): Show |
6 | 150 | 0.0400 | -40 | c.-19 others(59): Show |
FAM135B | ENSG00000147724.12 | transcript | ENST00000395297.6 | protein_coding | 1/19 | chr8 | TogoVar |