view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRSK2_chr11_1384934_1467689 | 1429577 | TCAGCAGT others(2780): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG03209.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0029a0001c0001t0001g0073 | 3 | 360 | 0.0083 | -2787 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ZNF267_chr16_31868807_31922357 | 31910157 | GCTAACAC others(2780): Show |
G | intron_variant | MODIFIER | HG02723.hp2 NA21309.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0148a0002c0002t0002g0149 | 2 | 216 | 0.0093 | -2787 | c.227 others(17): Show |
ZNF267 | ENSG00000185947.15 | transcript | ENST00000300870.15 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123052145 | TTTTTTCT others(2778): Show |
T | intron_variant | MODIFIER | NA18966.hp2 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0091a0001c0001t0008g0092 | 2 | 262 | 0.0076 | -2785 | c.208 others(19): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPDYE3_chr7_100302702_100327196 | 100311106 | CAAAAAAA others(2776): Show |
C | exon_loss_variant | HIGH | HG01943.hp1 HG03209.hp2 |
a0003 | a0003c0012a0003c0023 | a0003c0012t0001a0003c0023t0001 | a0003c0012t0001g0135a0003c0023t0001g0160 | 2 | 344 | 0.0058 | -2783 | c.545 others(15): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE3_chr7_100302702_100327196 | 100311491 | AAAAAAAA others(2775): Show |
A | exon_loss_variant | HIGH | NA20905.hp1 | a0003 | a0003c0011 | a0003c0011t0005 | a0003c0011t0005g0180 | 1 | 344 | 0.0029 | -2782 | c.545 others(15): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE3_chr7_100302702_100327196 | 100312247 | GATTGCTT others(2775): Show |
G | exon_loss_variant | HIGH | HG01106.hp1 | a0003 | a0003c0011 | a0003c0011t0002 | a0003c0011t0002g0188 | 1 | 344 | 0.0029 | -2782 | c.763 others(16): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ZNF665_chr19_53157424_53198358 | 53185916 | AGGGTTTT others(2775): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(383): Show |
a0001a0002a0003others(14): Show | a0001c0001a0002c0002a0002c0003others(18): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(54): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0012others(351): Show | 386 | 408 | 0.9461 | -2782 | c.-46 others(17): Show |
ZNF665 | ENSG00000197497.11 | transcript | ENST00000396424.5 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
PPP1R15B_chr1_204398381_204416817 | 204412721 | TTTGAGAC others(2771): Show |
T | upstream_gene_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 394 | 0.0025 | -2778 | c.-40 others(11): Show |
PPP1R15B | ENSG00000158615.10 | transcript | ENST00000367188.5 | protein_coding | 905 | chr1 | TogoVar | |||||||
IRAK2_chr3_10159919_10248745 | 10184487 | TAGCCTTC others(2766): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG02717.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0007a0003c0004t0001 | a0001c0001t0001g0115a0001c0001t0001g0118a0001c0001t0001g0279others(4): Show | 7 | 292 | 0.0240 | -2773 | c.277 others(17): Show |
IRAK2 | ENSG00000134070.5 | transcript | ENST00000256458.5 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
OTULINL_chr5_14576792_14621180 | 14589014 | GGAGACAC others(2766): Show |
G | intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 380 | 0.0026 | -2773 | c.64+ others(15): Show |
OTULINL | ENSG00000145569.6 | transcript | ENST00000274217.4 | protein_coding | 1/7 | chr5 | TogoVar | |||||||
SCAP_chr3_47408681_47480941 | 47449177 | TGCTGTTT others(2766): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp2 others(127): Show |
a0001a0002a0006others(4): Show | a0001c0001a0001c0005a0001c0009others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0136a0001c0001t0001g0173a0001c0001t0001g0174others(127): Show | 130 | 304 | 0.4276 | -2773 | c.-98 others(17): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
TANGO6_chr16_68838531_69090182 | 69029861 | ACTTTGGG others(2764): Show |
A | intron_variant | MODIFIER | HG02004.hp1 NA18952.hp2 NA18968.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0027a0001c0001t0001g0033others(1): Show | 4 | 210 | 0.0191 | -2771 | c.299 others(19): Show |
TANGO6 | ENSG00000103047.8 | transcript | ENST00000261778.2 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TPO_chr2_1408463_1548673 | 1533881 | TCTGTGTG others(2764): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 |
a0001a0018 | a0001c0004a0018c0025 | a0001c0004t0001a0018c0025t0002 | a0001c0004t0001g0087a0018c0025t0002g0045 | 2 | 130 | 0.0154 | -2771 | c.261 others(19): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RUNDC3B_chr7_87623398_87837296 | 87679017 | AGAAAATT others(2762): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01123.hp1 HG01192.hp1 others(35): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0013a0001c0001t0017others(16): Show | a0001c0001t0002g0027a0001c0001t0002g0137a0001c0001t0002g0162others(35): Show | 38 | 202 | 0.1881 | -2769 | c.239 others(19): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1887479 | ACACTGAG others(2759): Show |
A | intron_variant | MODIFIER | NA19007.hp2 | a0002 | a0002c0030 | a0002c0030t0004 | a0002c0030t0004g0169 | 1 | 363 | 0.0028 | -2766 | c.118 others(19): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
FADS6_chr17_74872302_74898633 | 74884394 | GGGATATA others(2758): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0037 | 1 | 440 | 0.0023 | -2765 | c.412 others(17): Show |
FADS6 | ENSG00000172782.13 | transcript | ENST00000612771.5 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
DENND1B_chr1_197499748_197780480 | 197531378 | TAACAAAT others(2756): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(263): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(49): Show | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0059others(262): Show | 266 | 280 | 0.9500 | -2763 | c.151 others(19): Show |
DENND1B | ENSG00000213047.13 | transcript | ENST00000620048.6 | protein_coding | 20/22 | chr1 | TogoVar | |||||||
RANBP10_chr16_67718070_67811560 | 67788283 | TGCTCTGT others(2754): Show |
T | intron_variant | MODIFIER | HG02257.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0147a0001c0001t0007g0148 | 2 | 152 | 0.0132 | -2761 | c.347 others(19): Show |
RANBP10 | ENSG00000141084.12 | transcript | ENST00000317506.8 | protein_coding | 2/13 | chr16 | TogoVar | |||||||
ANO5_chr11_22188085_22288357 | 22285597 | AACAAACA others(2753): Show |
A | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01243.hp2 HG01256.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0048 | a0001c0001t0009g0013a0001c0001t0009g0311a0001c0001t0009g0313others(2): Show | 6 | 364 | 0.0165 | -2760 | c.*58 others(11): Show |
ANO5 | ENSG00000171714.13 | transcript | ENST00000324559.9 | protein_coding | 2241 | chr11 | TogoVar | |||||||
SULT2B1_chr19_48547172_48604423 | 48548161 | ACTATTGG others(2751): Show |
A | upstream_gene_variant | MODIFIER | HG02015.hp2 NA18974.hp2 NA18980.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0001 | a0001c0001t0001g0104a0001c0001t0001g0179a0001c0001t0001g0183others(4): Show | 7 | 376 | 0.0186 | -2758 | c.-40 others(11): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 4010 | chr19 | TogoVar | |||||||
YIPF4_chr2_32272904_32321594 | 32312841 | TTTAGCCG others(2751): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0117 | 1 | 398 | 0.0025 | -2758 | c.*72 others(11): Show |
YIPF4 | ENSG00000119820.11 | transcript | ENST00000238831.9 | protein_coding | 6/6 | 7226 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UHRF2_chr9_6408199_6512054 | 6507996 | CACCACAC others(2740): Show |
C | downstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 318 | 0.0031 | -2747 | c.*18 others(11): Show |
UHRF2 | ENSG00000147854.17 | transcript | ENST00000276893.10 | protein_coding | 943 | chr9 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240977590 | AGCTCTGG others(2738): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0051 | a0051c0071 | a0051c0071t0001 | a0051c0071t0001g0170 | 1 | 350 | 0.0029 | -2745 | c.440 others(19): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CD300A_chr17_74461634_74489794 | 74486519 | CAGTGAAA others(2737): Show |
C | downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0103 | 1 | 424 | 0.0024 | -2744 | c.*23 others(11): Show |
CD300A | ENSG00000167851.15 | transcript | ENST00000360141.8 | protein_coding | 1726 | chr17 | TogoVar | |||||||
ZNF254_chr19_24082187_24134968 | 24132226 | GGGTTTTT others(2735): Show |
G | downstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 371 | 0.0027 | -2742 | c.*42 others(11): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 2259 | chr19 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1429577 | TCAGCAGT others(2733): Show |
T | intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 360 | 0.0028 | -2740 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1429624 | TCAGCAGT others(2733): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01257.hp1 HG01258.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0113a0001c0001t0001g0339a0001c0001t0003g0193others(14): Show | 17 | 360 | 0.0472 | -2740 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
VIRMA_chr8_94482689_94558469 | 94545980 | CCAGGAGG others(2733): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG02145.hp2 others(8): Show |
a0001 | a0001c0005 | a0001c0005t0003a0001c0005t0009 | a0001c0005t0003g0240a0001c0005t0003g0241a0001c0005t0003g0242others(8): Show | 11 | 346 | 0.0318 | -2740 | c.63+ others(15): Show |
VIRMA | ENSG00000164944.12 | transcript | ENST00000297591.10 | protein_coding | 1/23 | chr8 | TogoVar | |||||||
TFDP2_chr3_141939428_142154544 | 142130906 | AGCCAAAT others(2732): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG02630.hp2 HG02647.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0012others(8): Show | a0001c0001t0004g0232a0001c0001t0005g0029a0001c0001t0012g0001others(15): Show | 18 | 252 | 0.0714 | -2739 | c.-93 others(19): Show |
TFDP2 | ENSG00000114126.18 | transcript | ENST00000489671.6 | protein_coding | 1/12 | chr3 | TogoVar | |||||||
FBN3_chr19_8060402_8154592 | 8126426 | CTTTTCCC others(2729): Show |
C | exon_loss_variant | HIGH | NA18962.hp1 NA19088.hp2 |
a0031 | a0031c0048 | a0031c0048t0001 | a0031c0048t0001g0155a0031c0048t0001g0159 | 2 | 380 | 0.0053 | -2736 | c.217 others(14): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 20/64 | chr19 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132232433 | AGACAGCG others(2725): Show |
A | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0039 | a0001c0039t0006 | a0001c0039t0006g0001 | 1 | 183 | 0.0055 | -2732 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
MBL2_chr10_52760380_52777784 | 52766742 | TATTTGTA others(2725): Show |
T | exon_loss_variant | HIGH | HG02976.hp2 | a0000 | a0000c0012 | a0000c0012t0029 | a0000c0012t0029g0076 | 1 | 434 | 0.0023 | -2732 | c.305 others(13): Show |
MBL2 | ENSG00000165471.7 | transcript | ENST00000674931.1 | protein_coding | 4/5 | 2198/3561 | chr10 | TogoVar | ||||||
SLC35B3_chr6_8406435_8440545 | 8432262 | CAAAACTG others(2723): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG02056.hp2 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 3 | 412 | 0.0073 | -2730 | c.-94 others(16): Show |
SLC35B3 | ENSG00000124786.13 | transcript | ENST00000710437.1 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
DYNC2I2_chr9_128628653_128661847 | 128649707 | AAACTGGG others(2718): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG02965.hp1 NA18906.hp2 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0005t0001 | a0001c0003t0001g0282a0001c0005t0001g0284a0001c0005t0001g0285 | 3 | 368 | 0.0082 | -2725 | c.186 others(17): Show |
DYNC2I2 | ENSG00000119333.12 | transcript | ENST00000372715.7 | protein_coding | 1/8 | chr9 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241805206 | ACCTTCCC others(2718): Show |
A | downstream_gene_variant | MODIFIER | HG02630.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0045 | 1 | 314 | 0.0032 | -2725 | c.*10 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 920 | chr2 | TogoVar | |||||||
IFT52_chr20_43585937_43652299 | 43643243 | TGGGAGGC others(2718): Show |
T | intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 | 1 | 300 | 0.0033 | -2725 | c.126 others(17): Show |
IFT52 | ENSG00000101052.13 | transcript | ENST00000373030.8 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241805206 | ACCTTCCC others(2718): Show |
A | upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 1 | 319 | 0.0031 | -2725 | c.-40 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3986 | chr2 | TogoVar | |||||||
IFT52_chr20_43585937_43652299 | 43643224 | ACCTGTAA others(2717): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(180): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0004c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0004c0005t0003others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0012others(173): Show | 183 | 300 | 0.6100 | -2724 | c.126 others(17): Show |
IFT52 | ENSG00000101052.13 | transcript | ENST00000373030.8 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
HIVEP2_chr6_142746469_142950176 | 142906133 | CAAAAAAA others(2715): Show |
C | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 288 | 0.0035 | -2722 | c.-64 others(21): Show |
HIVEP2 | ENSG00000010818.11 | transcript | ENST00000367603.8 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
FXYD4_chr10_43366636_43381335 | 43368608 | TCTGTAAT others(2712): Show |
T | upstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 426 | 0.0024 | -2719 | c.-33 others(10): Show |
FXYD4 | ENSG00000150201.15 | transcript | ENST00000476166.6 | protein_coding | 3027 | chr10 | TogoVar | |||||||
MAGEA4_chrX_151907889_151930170 | 151915276 | GCGCCCCC others(2712): Show |
G | intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0077 | 1 | 344 | 0.0029 | -2719 | c.-13 others(19): Show |
MAGEA4 | ENSG00000147381.12 | transcript | ENST00000276344.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GBP3_chr1_89001680_89027866 | 89010225 | GATTCTCC others(2709): Show |
G | exon_loss_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(79): Show |
a0002a0016a0018 | a0002c0002a0016c0013a0018c0020 | a0002c0002t0003a0002c0002t0006a0002c0002t0009others(2): Show | a0002c0002t0003g0013a0002c0002t0003g0034a0002c0002t0003g0035others(67): Show | 82 | 436 | 0.1881 | -2716 | c.868 others(16): Show |
GBP3 | ENSG00000117226.12 | transcript | ENST00000370481.9 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137565602 | TCTGTCTG others(2707): Show |
T | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0258 | 1 | 340 | 0.0029 | -2714 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
SCP2_chr1_52922276_53056698 | 52951381 | ACTTGAGC others(2703): Show |
A | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 280 | 0.0036 | -2710 | c.331 others(15): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFAP92_chr3_128904873_128999076 | 128953526 | AAGAAAGA others(2701): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01167.hp2 others(32): Show |
a0001a0002a0020 | a0001c0002a0002c0004a0020c0012 | a0001c0002t0001a0002c0004t0002a0020c0012t0001 | a0001c0002t0001g0007a0001c0002t0001g0299a0001c0002t0001g0304others(30): Show | 35 | 342 | 0.1023 | -2708 | c.135 others(19): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 9/15 | chr3 | TogoVar | |||||||
DNAJC8_chr1_28195278_28238029 | 28224834 | ATATTGCG others(2701): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG01109.hp1 HG01123.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157a0001c0001t0002g0158a0001c0001t0002g0159others(4): Show | 7 | 250 | 0.0280 | -2708 | c.180 others(17): Show |
DNAJC8 | ENSG00000126698.11 | transcript | ENST00000263697.6 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
CDK5RAP2_chr9_120383875_120585167 | 120494746 | TAAGAATC others(2699): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00621.hp2 others(95): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0016a0002c0002others(19): Show | a0001c0001t0001a0001c0001t0006a0001c0016t0001others(23): Show | a0001c0001t0001g0070a0001c0001t0001g0072a0001c0001t0001g0078others(95): Show | 98 | 232 | 0.4224 | -2706 | c.131 others(19): Show |
CDK5RAP2 | ENSG00000136861.19 | transcript | ENST00000349780.9 | protein_coding | 12/37 | chr9 | TogoVar | |||||||
TRIM13_chr13_49992042_50023467 | 50004907 | CTCTACTA others(2698): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0003 | a0001c0003t0052a0001c0003t0109a0001c0003t0143 | a0001c0003t0052g0043a0001c0003t0109g0215a0001c0003t0143g0043 | 3 | 390 | 0.0077 | -2705 | c.-6- others(15): Show |
TRIM13 | ENSG00000204977.10 | transcript | ENST00000378182.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179486459 | AAATTCAG others(2695): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01071.hp2 others(21): Show |
a0003a0007a0008others(4): Show | a0003c0004a0007c0009a0008c0012others(4): Show | a0003c0004t0001a0007c0009t0001a0008c0012t0001others(4): Show | a0003c0004t0001g0173a0003c0004t0001g0177a0003c0004t0001g0179others(21): Show | 24 | 356 | 0.0674 | -2702 | c.209 others(19): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PKNOX2_chr11_125159751_125438389 | 125194240 | GCAGTCAT others(2695): Show |
G | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0008 | 1 | 222 | 0.0045 | -2702 | c.-20 others(21): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |