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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAM83F_chr22_39989954_40048534 | 39997536 | ACAAATGC others(3732): Show |
A | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0018 | 1 | 234 | 0.0043 | -3739 | c.489 others(17): Show |
FAM83F | ENSG00000133477.17 | transcript | ENST00000333407.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
LILRB3_chr19_54211278_54228007 | 54224269 | AAACAGTT others(3731): Show |
A | upstream_gene_variant | MODIFIER | NA19012.hp1 | a0050 | a0050c0064 | a0050c0064t0003 | a0050c0064t0003g0073 | 1 | 455 | 0.0022 | -3738 | c.-50 others(11): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 1263 | chr19 | TogoVar | |||||||
FRMD8_chr11_65381637_65418525 | 65414789 | GCTACAAG others(3729): Show |
G | downstream_gene_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0194 | 1 | 366 | 0.0027 | -3736 | c.*34 others(11): Show |
FRMD8 | ENSG00000126391.14 | transcript | ENST00000317568.10 | protein_coding | 1265 | chr11 | TogoVar | |||||||
MAP7_chr6_136337734_136555422 | 136496381 | GTGAAAAC others(3727): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02622.hp2 HG03041.hp1 others(1): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0013a0006c0006t0006 | a0001c0001t0013g0179 a0006c0006t0006g0180 a0006c0006t0006g0181 others(1): Show |
4 | 248 | 0.0161 | -3734 | c.67+ others(17): Show |
MAP7 | ENSG00000135525.19 | transcript | ENST00000354570.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1013733 | CTGTGTGT others(3725): Show |
C | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0034 | 1 | 40 | 0.0250 | -3732 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ENTPD3_chr3_40382184_40433744 | 40397267 | CTGAACAG others(3724): Show |
C | frameshift_variant others(3): Show |
HIGH | HG03516.hp2 | a0007 | a0007c0015 | a0007c0015t0001 | a0007c0015t0001g0230 | 1 | 374 | 0.0027 | -3731 | c.169 others(12): Show |
p.Tyr others(4): Show |
ENTPD3 | ENSG00000168032.10 | transcript | ENST00000301825.8 | protein_coding | 4/11 | 169/1590 | 57/529 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||
DLGAP2_chr8_732628_1713476 | 1013758 | TGCCTCCA others(3723): Show |
T | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 1 | 40 | 0.0250 | -3730 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1369935 | CTGCCCAC others(3720): Show |
C | intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0062 | 1 | 115 | 0.0087 | -3727 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29418797 | TGCATTGG others(3719): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG02970.hp1 others(1): Show |
a0001a0005a0008 | a0001c0006a0001c0025a0005c0013others(1): Show | a0001c0006t0007a0001c0025t0011a0005c0013t0004others(1): Show | a0001c0006t0007g0056 a0001c0025t0011g0074 a0005c0013t0004g0020 others(1): Show |
4 | 80 | 0.0500 | -3726 | c.115 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
CYP4F22_chr19_15503525_15557317 | 15553591 | ATCACCTG others(3719): Show |
A | downstream_gene_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0377 | 1 | 384 | 0.0026 | -3726 | c.*21 others(11): Show |
CYP4F22 | ENSG00000171954.13 | transcript | ENST00000269703.8 | protein_coding | 1275 | chr19 | TogoVar | |||||||
TCERG1L_chr10_131087391_131316721 | 131110795 | GTTCAATT others(3714): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(77): Show |
a0001a0003a0007 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0001g0045 others(77): Show |
80 | 324 | 0.2469 | -3721 | c.139 others(19): Show |
TCERG1L | ENSG00000176769.9 | transcript | ENST00000368642.4 | protein_coding | 9/11 | chr10 | TogoVar | |||||||
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 | 419 | 0.0119 | -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 | a0001c0001t0001g0019 a0001c0001t0001g0044 |
2 | 50 | 0.0400 | -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 | a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0071 others(4): Show |
7 | 223 | 0.0314 | -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 | a0002c0002t0001g0085 a0002c0002t0002g0207 |
2 | 223 | 0.0090 | -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 | a0001c0001t0073g0155 | 1 | 352 | 0.0028 | -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 a0004c0008t0016g0029 |
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 | a0002c0002t0001g0178 | 1 | 316 | 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 | a0002c0002t0001g0041 | 1 | 354 | 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 | a0001c0001t0004g0034 | 1 | 164 | 0.0061 | -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 | a0001c0001a0002c0003a0003c0016others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0159 a0001c0001t0001g0193 a0001c0001t0002g0092 others(35): Show |
38 | 238 | 0.1597 | -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 | a0001c0001t0003a0001c0001t0010a0001c0001t0034others(7): Show | a0001c0001t0003g0002 a0001c0001t0003g0130 a0001c0001t0003g0133 others(25): Show |
29 | 388 | 0.0747 | -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 | a0001c0001t0009 | a0001c0001t0009g0212 | 1 | 212 | 0.0047 | -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 | 250 | 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 | a0001c0001t0003g0088 | 1 | 340 | 0.0029 | -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 | a0008c0015 | a0008c0015t0005 | a0008c0015t0005g0025 | 1 | 422 | 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 | a0001c0001t0002g0125 a0001c0001t0006g0044 a0001c0001t0006g0051 others(6): Show |
9 | 220 | 0.0409 | -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 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 194 | 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 | a0004c0004t0001g0246 | 1 | 349 | 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 | a0001c0001t0001g0213 | 1 | 318 | 0.0031 | -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 | a0001c0001t0225a0001c0001t0226 | a0001c0001t0225g0210 a0001c0001t0226g0243 |
2 | 414 | 0.0048 | -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 | 406 | 0.2365 | -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 | a0003 | a0003c0009 | a0003c0009t0006 | a0003c0009t0006g0035 | 1 | 424 | 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 | a0007c0016t0001g0135 | 1 | 190 | 0.0053 | -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 a0001c0001t0001g0073 |
2 | 418 | 0.0048 | -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 | 168 | 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 | 223 | 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 | 272 | 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 | a0001c0001t0025g0182 | 1 | 182 | 0.0055 | -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 | a0001c0001t0002g0244 | 1 | 382 | 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 | a0003 | a0003c0004 | a0003c0004t0014 | a0003c0004t0014g0181 | 1 | 410 | 0.0024 | -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 | 206 | 0.0243 | -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 |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0025 | 2 | 416 | 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 | a0001c0001t0014g0037 | 1 | 64 | 0.0156 | -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 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 313 | 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 | 40 | 0.0500 | -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 | a0001c0001t0001g0045 | 1 | 163 | 0.0061 | -3603 | c.995 others(17): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 6/28 | chrX | TogoVar |