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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZBTB12_chr6_31894613_31907086 | 31903367 | CGCCTGTA others(3712): Show |
C | upstream_gene_variant | MODIFIER | HG02129.hp2 HG02572.hp1 HG03471.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0011 |
5 | 418 | 0.0120 | -3719 | c.-52 others(11): Show |
ZBTB12 | ENSG00000204366.4 | transcript | ENST00000375527.3 | protein_coding | 1282 | chr6 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2277588 | GGAGGAGG others(3703): Show |
G | intron_variant | MODIFIER | NA18960.hp1 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0044 |
2 | 40 | 0.0500 | -3710 | c.388 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1637654 | AGATAGGG others(3701): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp1 HG02896.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0072 others(4): Show |
7 | 221 | 0.0317 | -3708 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1637196 | GTCCATCC others(3695): Show |
G | intron_variant | MODIFIER | NA18947.hp2 NA18999.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0081 a0002c0002t0002g0207 |
2 | 216 | 0.0093 | -3702 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DNAJC15_chr13_43018586_43119213 | 43043823 | GGTTTCGT others(3694): Show |
G | intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0073 | a0001c0001t0073g0160 | 1 | 350 | 0.0029 | -3701 | c.108 others(19): Show |
DNAJC15 | ENSG00000120675.6 | transcript | ENST00000379221.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1013871 | ATGACCAG others(3687): Show |
A | intron_variant | MODIFIER | HG02976.hp2 NA18906.hp1 |
a0001a0004 | a0001c0002a0004c0008 | a0001c0002t0001a0004c0008t0016 | a0001c0002t0001g0015 a0004c0008t0016g0028 |
2 | 40 | 0.0500 | -3694 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ZC3HC1_chr7_130013292_130056374 | 130042123 | CGACACCT others(3686): Show |
C | intron_variant | MODIFIER | HG00408.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0176 | 1 | 314 | 0.0032 | -3693 | c.258 others(17): Show |
ZC3HC1 | ENSG00000091732.17 | transcript | ENST00000358303.9 | protein_coding | 2/9 | chr7 | TogoVar | |||||||
CD164L2_chr1_27374176_27388333 | 27384126 | TTAGTCCC others(3682): Show |
T | upstream_gene_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0040 | 1 | 352 | 0.0028 | -3689 | c.-45 others(10): Show |
CD164L2 | ENSG00000174950.11 | transcript | ENST00000374030.3 | protein_coding | 794 | chr1 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 210950570 | AGTATTCC others(3679): Show |
A | intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0032 | 1 | 162 | 0.0062 | -3686 | c.103 others(21): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 6/10 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85935170 | AAAAATTT others(3678): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp1 HG01099.hp1 others(35): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0016a0002c0031others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0159 a0001c0001t0001g0194 a0001c0001t0002g0092 others(35): Show |
38 | 236 | 0.1610 | -3685 | c.256 others(21): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 24/59 | chr1 | TogoVar | |||||||
ALG14_chr1_94969405_95077951 | 95056703 | ACCTTTAA others(3670): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00544.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0037others(6): Show | a0001c0001t0003g0003 a0001c0001t0003g0130 a0001c0001t0003g0131 others(25): Show |
29 | 386 | 0.0751 | -3677 | c.288 others(17): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 163718428 | ATCTACAA others(3667): Show |
A | intron_variant | MODIFIER | NA18984.hp2 | a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0075 | 1 | 102 | 0.0098 | -3674 | c.112 others(19): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 4/9 | chr4 | TogoVar | |||||||
RAB10_chr2_26029084_26142454 | 26089773 | CACCAGAT others(3667): Show |
C | intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0212 | 1 | 210 | 0.0048 | -3674 | c.128 others(17): Show |
RAB10 | ENSG00000084733.11 | transcript | ENST00000264710.5 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
TLL1_chr4_165868237_166109457 | 165996754 | TAGAAATG others(3665): Show |
T | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0064 | 1 | 248 | 0.0040 | -3672 | c.632 others(17): Show |
TLL1 | ENSG00000038295.8 | transcript | ENST00000061240.7 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RELCH_chr18_62182255_62315249 | 62194402 | TATAGTTT others(3658): Show |
T | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0091 | 1 | 338 | 0.0030 | -3665 | c.526 others(18): Show |
RELCH | ENSG00000134444.15 | transcript | ENST00000644646.2 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TEKT2_chr1_36079094_36093275 | 36083126 | CCTGGCTA others(3653): Show |
C | exon_loss_variant | HIGH | NA19080.hp2 | a0008 | a0008c0009 | a0008c0009t0003 | a0008c0009t0003g0006 | 1 | 420 | 0.0024 | -3660 | c.-10 others(9): Show |
TEKT2 | ENSG00000092850.12 | transcript | ENST00000207457.8 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58660030 | CTTGAACT others(3644): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02258.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0034others(4): Show | a0001c0001t0002g0126 a0001c0001t0006g0041 a0001c0001t0006g0052 others(6): Show |
9 | 218 | 0.0413 | -3651 | c.252 others(19): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
USP17L7_chr8_12127417_12139099 | 12135448 | GTGCAAAA others(3644): Show |
G | upstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 191 | 0.0052 | -3651 | c.-50 others(11): Show |
USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1350 | chr8 | TogoVar | |||||||
IQANK1_chr8_143729139_143795645 | 143742229 | GGTGTCCG others(3641): Show |
G | intron_variant | MODIFIER | HG02015.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0247 | 1 | 348 | 0.0029 | -3648 | c.175 others(17): Show |
IQANK1 | ENSG00000203499.12 | transcript | ENST00000527139.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CENPVL2_chrX_51676212_51687831 | 51684185 | TCGGGACA others(3639): Show |
T | upstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 237 | 0.0042 | -3646 | c.-50 others(11): Show |
CENPVL2 | ENSG00000283093.1 | transcript | ENST00000634648.1 | protein_coding | 1355 | chrX | TogoVar | |||||||
LRRC69_chr8_91097619_91224257 | 91174860 | GGAGAGGT others(3637): Show |
G | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 316 | 0.0032 | -3644 | c.652 others(19): Show |
LRRC69 | ENSG00000214954.9 | transcript | ENST00000448384.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NUDT4_chr12_93372925_93413146 | 93390521 | ACCCTTGC others(3633): Show |
A | intron_variant | MODIFIER | HG02970.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0223a0001c0001t0224 | a0001c0001t0223g0179 a0001c0001t0224g0208 |
2 | 412 | 0.0049 | -3640 | c.100 others(16): Show |
NUDT4 | ENSG00000173598.14 | transcript | ENST00000415493.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SMIM3_chr5_150773757_150801734 | 150798099 | AAGCTCCC others(3628): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp2 others(93): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0018 others(51): Show |
96 | 404 | 0.2376 | -3635 | c.*24 others(11): Show |
SMIM3 | ENSG00000256235.3 | transcript | ENST00000526627.2 | protein_coding | 1366 | chr5 | TogoVar | |||||||
REX1BD_chr19_18583798_18597337 | 18587375 | GAGATTGA others(3625): Show |
G | exon_loss_variant | HIGH | HG02273.hp2 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0009 | 1 | 422 | 0.0024 | -3632 | c.-14 others(12): Show |
REX1BD | ENSG00000006015.18 | transcript | ENST00000358607.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1342468 | CGCACTTT others(3624): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0007 | a0007c0016 | a0007c0016t0001 | a0007c0016t0001g0143 | 1 | 180 | 0.0056 | -3631 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SULT1A2_chr16_28586943_28602050 | 28598421 | AATCAGTA others(3622): Show |
A | upstream_gene_variant | MODIFIER | HG00673.hp2 HG01255.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0072 |
2 | 342 | 0.0058 | -3629 | c.-50 others(11): Show |
SULT1A2 | ENSG00000197165.11 | transcript | ENST00000335715.9 | protein_coding | 1372 | chr16 | TogoVar | |||||||
CDH8_chr16_61642250_62041438 | 61660241 | CATGCAAA others(3621): Show |
C | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0096 | 1 | 166 | 0.0060 | -3628 | c.165 others(19): Show |
CDH8 | ENSG00000150394.14 | transcript | ENST00000577390.6 | protein_coding | 10/11 | chr16 | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1637457 | ACATGAGG others(3618): Show |
A | intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 221 | 0.0045 | -3625 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
FAM107B_chr10_14513557_14779897 | 14755344 | CCAACCTG others(3614): Show |
C | intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0087 | 1 | 270 | 0.0037 | -3621 | c.411 others(19): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 1/4 | chr10 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155545787 | GAGGCAGG others(3610): Show |
G | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0181 | 1 | 180 | 0.0056 | -3617 | c.-10 others(21): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 1/27 | chr1 | TogoVar | |||||||
MAL2_chr8_119203363_119250673 | 119233865 | CACAACCA others(3605): Show |
C | intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0223 | 1 | 380 | 0.0026 | -3612 | c.304 others(17): Show |
MAL2 | ENSG00000147676.14 | transcript | ENST00000614891.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ZNF586_chr19_57764676_57785616 | 57779441 | CTAGAGAA others(3605): Show |
C | frameshift_variant others(4): Show |
HIGH | HG00639.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0088 | 1 | 408 | 0.0025 | -3612 | c.856 others(9): Show |
p.Arg others(5): Show |
ZNF586 | ENSG00000083828.16 | transcript | ENST00000396154.7 | protein_coding | 3/3 | 1023/2196 | 856/1209 | 286/402 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
CAP2_chr6_17388595_17562780 | 17438071 | GATTATAA others(3602): Show |
G | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp2 HG02630.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0002t0001a0001c0008t0001 | a0001c0001t0001g0069 a0001c0002t0001g0144 a0001c0002t0001g0145 others(2): Show |
5 | 204 | 0.0245 | -3609 | c.222 others(19): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | chr6 | TogoVar | |||||||
GYPC_chr2_126651158_126701667 | 126690214 | GTCTTCCT others(3602): Show |
G | conservative_inframe_deletion | MODERATE | HG01257.hp2 HG01258.hp1 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0026 | 2 | 414 | 0.0048 | -3609 | c.60_ others(6): Show |
p.Pro others(11): Show |
GYPC | ENSG00000136732.16 | transcript | ENST00000259254.9 | protein_coding | 3/4 | 166/1018 | 60/387 | 20/128 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
CNTNAP5_chr2_124020287_124926219 | 124677611 | GTGCATTT others(3601): Show |
G | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0038 | 1 | 62 | 0.0161 | -3608 | c.207 others(21): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TEX13B_chrX_107975864_107987370 | 107979285 | GGGCTCCT others(3601): Show |
G | transcript_ablation | HIGH | NA19043.hp1 | a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 1 | 311 | 0.0032 | -3608 | c.-61 others(10): Show |
p.0? | TEX13B | ENSG00000170925.3 | transcript | ENST00000302917.1 | protein_coding | 2/3 | chrX | TogoVar | ||||||
LHFPL3_chr7_104323603_104913561 | 104824158 | ATATATAT others(3599): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0002 a0001c0001t0009g0076 |
2 | 86 | 0.0233 | -3606 | c.683 others(19): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | chr7 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1399997 | GGAGTCGT others(3596): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02818.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0027a0001c0003t0024 | a0001c0002t0027g0023 a0001c0003t0024g0003 |
2 | 30 | 0.0667 | -3603 | c.107 others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MAP3K15_chrX_19355059_19520508 | 19447897 | AAAAAAAA others(3596): Show |
A | intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 161 | 0.0062 | -3603 | c.995 others(17): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 6/28 | chrX | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1235614 | CCCTCTGC others(3591): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0003 | a0001c0003t0040 | a0001c0003t0040g0073 | 1 | 105 | 0.0095 | -3598 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
AGBL3_chr7_134981508_135140778 | 135024816 | AAAATTCA others(3588): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG01978.hp1 others(41): Show |
a0001a0002 | a0001c0001a0001c0013a0002c0002 | a0001c0001t0001a0001c0013t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(38): Show |
44 | 318 | 0.1384 | -3595 | c.418 others(17): Show |
AGBL3 | ENSG00000146856.14 | transcript | ENST00000436302.6 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PAIP2_chr5_139336854_139374717 | 139359427 | CAGTGCCC others(3584): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0227 a0001c0001t0002g0230 |
2 | 342 | 0.0058 | -3591 | c.-26 others(16): Show |
PAIP2 | ENSG00000120727.13 | transcript | ENST00000265192.9 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
C22orf31_chr22_29053672_29066831 | 29061463 | TCCATGTT others(3582): Show |
T | exon_loss_variant others(1): Show |
HIGH | HG02647.hp2 | a0003 | a0003c0012 | a0003c0012t0002 | a0003c0012t0002g0073 | 1 | 470 | 0.0021 | -3589 | c.-32 others(11): Show |
C22orf31 | ENSG00000100249.5 | transcript | ENST00000216071.5 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
GYPC_chr2_126651158_126701667 | 126691222 | GAGGCTTG others(3578): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG01934.hp1 HG02300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0319 a0001c0001t0002g0323 |
2 | 414 | 0.0048 | -3585 | c.106 others(15): Show |
GYPC | ENSG00000136732.16 | transcript | ENST00000259254.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NDUFAF2_chr5_60940205_61158026 | 61105089 | TGGTTGAC others(3577): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG02647.hp1 HG02818.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0142 a0001c0001t0001g0143 others(3): Show |
7 | 264 | 0.0265 | -3584 | c.258 others(17): Show |
NDUFAF2 | ENSG00000164182.12 | transcript | ENST00000296597.10 | protein_coding | 3/3 | chr5 | TogoVar | |||||||
CTNNA3_chr10_65907523_67701195 | 67505446 | GCACCAAA others(3574): Show |
G | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0003 | 1 | 46 | 0.0217 | -3581 | c.579 others(19): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 5/17 | chr10 | TogoVar | |||||||
ALS2CL_chr3_46663995_46698679 | 46664257 | TCTGTCAT others(3571): Show |
T | downstream_gene_variant | MODIFIER | HG02300.hp1 | a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0022 | 1 | 388 | 0.0026 | -3578 | c.*31 others(11): Show |
ALS2CL | ENSG00000178038.17 | transcript | ENST00000318962.9 | protein_coding | 4737 | chr3 | TogoVar | |||||||
FGF1_chr5_142587178_142691090 | 142615486 | TGCTGGGA others(3571): Show |
T | intron_variant | MODIFIER | NA18962.hp1 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0022 a0001c0001t0004g0062 |
2 | 338 | 0.0059 | -3578 | c.-34 others(17): Show |
FGF1 | ENSG00000113578.18 | transcript | ENST00000337706.7 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
LRRC1_chr6_53790005_53929125 | 53863910 | CAGAAAAC others(3570): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0326 | 1 | 368 | 0.0027 | -3577 | c.278 others(19): Show |
LRRC1 | ENSG00000137269.15 | transcript | ENST00000370888.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MAPK10_chr4_86005405_86365053 | 86055221 | ACTAACAT others(3570): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01243.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0014others(6): Show | a0001c0001t0006g0005 a0001c0001t0006g0031 a0001c0001t0006g0039 others(14): Show |
17 | 168 | 0.1012 | -3577 | c.111 others(19): Show |
MAPK10 | ENSG00000109339.24 | transcript | ENST00000641462.2 | protein_coding | 11/13 | chr4 | TogoVar |