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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGEF4_chr2_130831914_131052253 | 130859583 | AAAAAAAA others(3468): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02615.hp1 HG02622.hp2 others(6): Show |
a0001a0003a0009others(1): Show | a0001c0001a0001c0024a0003c0003others(2): Show | a0001c0001t0001a0001c0024t0005a0003c0003t0002others(2): Show | a0001c0001t0001g0123 a0001c0024t0005g0067 a0003c0003t0002g0116 others(6): Show |
9 | 142 | 0.0634 | -3475 | c.39+ others(17): Show |
ARHGEF4 | ENSG00000136002.21 | transcript | ENST00000409359.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NUTM2B_chr10_79698227_79717758 | 79714285 | ACATCAGG others(3466): Show |
A | downstream_gene_variant | MODIFIER | NA19079.hp2 | a0002 | a0002c0003 | a0002c0003t0013 | a0002c0003t0013g0002 | 1 | 304 | 0.0033 | -3473 | c.*18 others(11): Show |
NUTM2B | ENSG00000188199.11 | transcript | ENST00000429828.7 | protein_coding | 1528 | chr10 | TogoVar | |||||||
NUTM2B_chr10_79698227_79717758 | 79714287 | ATCAGGCC others(3464): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(124): Show |
a0002a0003a0004others(18): Show | a0002c0003a0002c0006a0002c0009others(26): Show | a0002c0003t0002a0002c0006t0004a0002c0006t0010others(32): Show | a0002c0003t0002g0002 a0002c0003t0002g0022 a0002c0003t0002g0046 others(49): Show |
127 | 304 | 0.4178 | -3471 | c.*18 others(11): Show |
NUTM2B | ENSG00000188199.11 | transcript | ENST00000429828.7 | protein_coding | 1530 | chr10 | TogoVar | |||||||
SPATA31C1_chr9_87912962_87928657 | 87913606 | TAAAAAAA others(3463): Show |
T | upstream_gene_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 385 | 0.0026 | -3470 | c.-43 others(10): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 4355 | chr9 | TogoVar | |||||||
DEFB105B_chr8_7482679_7494593 | 7484194 | ACACTATA others(3462): Show |
A | upstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 136 | 0.0074 | -3469 | c.-35 others(9): Show |
DEFB105B | ENSG00000186599.8 | transcript | ENST00000335510.7 | protein_coding | 3484 | chr8 | TogoVar | |||||||
SPATA31C1_chr9_87912962_87928657 | 87913581 | TTACATAA others(3462): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00558.hp1 others(34): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0010a0002c0002others(4): Show | a0001c0001t0001a0001c0010t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0001 a0001c0010t0001g0001 a0002c0002t0001g0001 others(4): Show |
37 | 385 | 0.0961 | -3469 | c.-44 others(10): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 4380 | chr9 | TogoVar | |||||||
SPATA31C1_chr9_87912962_87928657 | 87913731 | AGGAGATC others(3462): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp2 HG01081.hp2 HG01167.hp2 others(9): Show |
a0002a0004a0005others(3): Show | a0002c0002a0004c0003a0005c0005others(3): Show | a0002c0002t0001a0004c0003t0001a0005c0005t0001others(3): Show | a0002c0002t0001g0001 a0004c0003t0001g0002 a0005c0005t0001g0002 others(3): Show |
12 | 273 | 0.0440 | -3469 | c.-42 others(10): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 4230 | chr9 | TogoVar | |||||||
SPATA31C1_chr9_87912962_87928657 | 87913800 | TAGGGCGT others(3462): Show |
T | upstream_gene_variant | MODIFIER | NA18947.hp1 NA19077.hp1 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0002 | 2 | 150 | 0.0133 | -3469 | c.-41 others(10): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 4161 | chr9 | TogoVar | |||||||
SPATA31C1_chr9_87912962_87928657 | 87915534 | TAGGTGAT others(3462): Show |
T | exon_loss_variant others(1): Show |
HIGH | HG01358.hp2 HG01981.hp1 |
a0019 | a0019c0028 | a0019c0028t0003 | a0019c0028t0003g0004 | 2 | 386 | 0.0052 | -3469 | c.-24 others(13): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AHNAK2_chr14_104932253_104983374 | 104948656 | TAGGTCCA others(3458): Show |
T | disruptive_inframe_deletion | MODERATE | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 351 | 0.0028 | -3465 | c.333 others(9): Show |
p.Lys others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 6931/18335 | 3330/17388 | 1110/5795 | chr14 | TogoVar | |||
DLGAP2_chr8_732628_1713476 | 1400135 | GGAGTCGT others(3458): Show |
G | intron_variant | MODIFIER | HG02071.hp1 HG02074.hp2 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0009a0002c0004t0026 | a0001c0002t0009g0039 a0002c0004t0026g0016 |
2 | 40 | 0.0500 | -3465 | c.107 others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107260016 | ACAATTAA others(3456): Show |
A | intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0078 | 1 | 258 | 0.0039 | -3463 | c.630 others(19): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1403961 | ATCCTCCA others(3454): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01496.hp2 HG02074.hp1 others(3): Show |
a0001a0002a0003 | a0001c0003a0001c0010a0002c0001others(1): Show | a0001c0003t0001a0001c0010t0025a0002c0001t0020others(2): Show | a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0010t0025g0012 others(3): Show |
6 | 39 | 0.1538 | -3461 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RNF168_chr3_196463783_196508768 | 196475774 | TCTCCTGA others(3454): Show |
T | intron_variant | MODIFIER | NA18975.hp1 NA18988.hp1 |
a0009 | a0009c0011 | a0009c0011t0007 | a0009c0011t0007g0256 a0009c0011t0007g0257 |
2 | 348 | 0.0057 | -3461 | c.681 others(16): Show |
RNF168 | ENSG00000163961.4 | transcript | ENST00000318037.3 | protein_coding | 4/5 | chr3 | TogoVar | |||||||
CNTNAP2_chr7_146111801_148425998 | 148375771 | GATCACGA others(3453): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01891.hp2 others(20): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0012others(19): Show | a0001c0001t0002g0006 a0001c0001t0006g0009 a0001c0001t0012g0034 others(20): Show |
23 | 40 | 0.5750 | -3460 | c.347 others(19): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CELA3B_chr1_21972022_21994354 | 21990895 | GAAAAAAA others(3452): Show |
G | downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0060 | 1 | 216 | 0.0046 | -3459 | c.*16 others(11): Show |
CELA3B | ENSG00000219073.8 | transcript | ENST00000337107.11 | protein_coding | 1542 | chr1 | TogoVar | |||||||
SDHAF3_chr7_97112698_97186763 | 97160089 | AGCGCCTC others(3452): Show |
A | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0301 | 1 | 400 | 0.0025 | -3459 | c.175 others(19): Show |
SDHAF3 | ENSG00000196636.8 | transcript | ENST00000432641.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ARHGAP1_chr11_46672080_46705619 | 46689785 | TGCCTTGG others(3450): Show |
T | intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 342 | 0.0029 | -3457 | c.229 others(17): Show |
ARHGAP1 | ENSG00000175220.12 | transcript | ENST00000311956.9 | protein_coding | 3/12 | chr11 | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1637012 | GTGTCCCA others(3448): Show |
G | intron_variant | MODIFIER | NA18941.hp2 NA18950.hp2 NA18985.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0091 a0001c0003t0001g0114 a0001c0003t0001g0193 others(2): Show |
5 | 221 | 0.0226 | -3455 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1637215 | ACATGAGG others(3448): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG01978.hp1 HG01981.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0002g0144 others(3): Show |
6 | 201 | 0.0299 | -3455 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DST_chr6_56452996_56959830 | 56777045 | TGGCTAGA others(3448): Show |
T | intron_variant | MODIFIER | HG02895.hp1 | a0035 | a0035c0043 | a0035c0043t0001 | a0035c0043t0001g0023 | 1 | 82 | 0.0122 | -3455 | c.626 others(19): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 4/103 | chr6 | TogoVar | |||||||
TADA2A_chr17_37401886_37484725 | 37418845 | TCCCAAAG others(3448): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp1 others(49): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0002c0002t0001a0002c0002t0003others(5): Show | a0001c0001t0009g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 others(49): Show |
52 | 350 | 0.1486 | -3455 | c.26- others(15): Show |
TADA2A | ENSG00000276234.5 | transcript | ENST00000615182.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1636910 | CCTCTGTG others(3447): Show |
C | intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0084 | 1 | 221 | 0.0045 | -3454 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1636971 | ACATGAGG others(3446): Show |
A | intron_variant | MODIFIER | HG01168.hp2 HG01884.hp2 HG02080.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0120 a0001c0001t0002g0183 others(7): Show |
11 | 216 | 0.0509 | -3453 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
FARP2_chr2_241351285_241499841 | 241366158 | TTCTTCCT others(3444): Show |
T | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0053 | 1 | 376 | 0.0027 | -3451 | c.-24 others(17): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 1/26 | chr2 | TogoVar | |||||||
TYR_chr11_89172875_89300759 | 89231314 | ATGTATCG others(3441): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG01243.hp1 HG01358.hp2 others(70): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0001 | a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0067 others(69): Show |
73 | 304 | 0.2401 | -3448 | c.118 others(19): Show |
TYR | ENSG00000077498.9 | transcript | ENST00000263321.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARFGEF3_chr6_138156939_138349663 | 138175678 | AGACTTGG others(3439): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0009 | 1 | 188 | 0.0053 | -3446 | c.137 others(17): Show |
ARFGEF3 | ENSG00000112379.9 | transcript | ENST00000251691.5 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1429523 | GCTGTGCC others(3438): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02258.hp2 HG02451.hp1 others(10): Show |
a0002 | a0002c0002a0002c0010 | a0002c0002t0002a0002c0002t0029a0002c0010t0002 | a0002c0002t0002g0015 a0002c0002t0002g0018 a0002c0002t0002g0022 others(10): Show |
13 | 291 | 0.0447 | -3445 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPATA31C2_chr9_88124305_88143475 | 88134487 | GTCTCATG others(3435): Show |
G | intron_variant | MODIFIER | NA18981.hp1 | a0009 | a0009c0017 | a0009c0017t0002 | a0009c0017t0002g0132 | 1 | 444 | 0.0023 | -3442 | c.189 others(15): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
NCK2_chr2_105739912_105899272 | 105810122 | AACAGGGA others(3434): Show |
A | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 332 | 0.0030 | -3441 | c.-20 others(19): Show |
NCK2 | ENSG00000071051.14 | transcript | ENST00000233154.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SEMA6B_chr19_4537593_4564684 | 4561245 | GGAGTTTG others(3432): Show |
G | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0328 | 1 | 438 | 0.0023 | -3439 | c.-51 others(11): Show |
SEMA6B | ENSG00000167680.17 | transcript | ENST00000586582.6 | protein_coding | 1562 | chr19 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41776568 | TAAAAAGG others(3426): Show |
T | intron_variant | MODIFIER | HG01169.hp2 HG01515.hp1 HG02258.hp1 others(4): Show |
a0003a0019 | a0003c0003a0003c0016a0019c0017 | a0003c0003t0001a0003c0003t0006a0003c0016t0001others(1): Show | a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0061 others(4): Show |
7 | 70 | 0.1000 | -3433 | c.219 others(20): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 21/36 | chr3 | TogoVar | |||||||
C6orf118_chr6_165274664_165314605 | 165311177 | GGTCCCCC others(3421): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(208): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0002c0004others(15): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(20): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(161): Show |
211 | 358 | 0.5894 | -3428 | c.-50 others(11): Show |
C6orf118 | ENSG00000112539.15 | transcript | ENST00000230301.9 | protein_coding | 1573 | chr6 | TogoVar | |||||||
ZC2HC1B_chr6_143859474_143943343 | 143875316 | TCTAAAGT others(3418): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG01258.hp1 HG01928.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0111 others(11): Show |
14 | 328 | 0.0427 | -3425 | c.29- others(15): Show |
ZC2HC1B | ENSG00000118491.10 | transcript | ENST00000237275.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
POLR1B_chr2_112537465_112584818 | 112559724 | AGGTTCAC others(3417): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0218 | 1 | 382 | 0.0026 | -3424 | c.161 others(18): Show |
POLR1B | ENSG00000125630.16 | transcript | ENST00000263331.10 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1399982 | ACCTCCTT others(3413): Show |
A | intron_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0007 | a0002c0007t0008 | a0002c0007t0008g0040 | 1 | 27 | 0.0370 | -3420 | c.107 others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPATA31C2_chr9_88124305_88143475 | 88134496 | CCGGTCCT others(3413): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG01346.hp2 HG02165.hp2 others(2): Show |
a0003a0009 | a0003c0004a0009c0017 | a0003c0004t0002a0009c0017t0002 | a0003c0004t0002g0081 a0009c0017t0002g0025 |
5 | 444 | 0.0113 | -3420 | c.189 others(15): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
SNTG1_chr8_49906407_50801692 | 50108106 | GGGTCACA others(3411): Show |
G | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 106 | 0.0094 | -3418 | c.-10 others(21): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1402924 | GAGTGCTT others(3407): Show |
G | intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0017 | 1 | 40 | 0.0250 | -3414 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RAB11B_chr19_8385360_8409434 | 8406021 | TGAGACCA others(3406): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp2 HG03130.hp1 NA18522.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 | 3 | 426 | 0.0070 | -3413 | c.*24 others(11): Show |
RAB11B | ENSG00000185236.12 | transcript | ENST00000328024.11 | protein_coding | 1588 | chr19 | TogoVar | |||||||
RAB11B_chr19_8385360_8409434 | 8406025 | ACCATCCT others(3402): Show |
A | downstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 | 1 | 426 | 0.0023 | -3409 | c.*24 others(11): Show |
RAB11B | ENSG00000185236.12 | transcript | ENST00000328024.11 | protein_coding | 1592 | chr19 | TogoVar | |||||||
CDH20_chr18_61328430_61560779 | 61518408 | TTCAAGAG others(3400): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02615.hp1 HG02922.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0005t0008others(3): Show | a0001c0001t0002g0233 a0001c0002t0001g0063 a0001c0005t0008g0054 others(3): Show |
6 | 278 | 0.0216 | -3407 | c.101 others(19): Show |
CDH20 | ENSG00000101542.10 | transcript | ENST00000262717.9 | protein_coding | 6/11 | chr18 | TogoVar | |||||||
MYO5B_chr18_49817789_50200147 | 50168609 | GACCCTCC others(3400): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00438.hp1 others(76): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0037others(28): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(38): Show | a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 others(76): Show |
79 | 236 | 0.3347 | -3407 | c.27+ others(17): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 1/39 | chr18 | TogoVar | |||||||
LMNB2_chr19_2423166_2461959 | 2450554 | GATCACCT others(3399): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 354 | 0.0028 | -3406 | c.264 others(17): Show |
LMNB2 | ENSG00000176619.13 | transcript | ENST00000325327.4 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1013834 | GTGTGAGA others(3397): Show |
G | intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0022 | 1 | 40 | 0.0250 | -3404 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40982040 | AAGAGGAC others(3395): Show |
A | splice_region_variant | LOW | NA19009.hp1 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0356 | 1 | 378 | 0.0026 | -3402 | c.*47 others(10): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154039263 | TTATCCAA others(3395): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG01081.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(11): Show | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0002g0101 others(28): Show |
31 | 212 | 0.1462 | -3402 | c.142 others(19): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | chr2 | TogoVar | |||||||
HMGN5_chrX_81108699_81206913 | 81151779 | GATTTTTG others(3394): Show |
G | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 223 | 0.0045 | -3401 | c.-12 others(21): Show |
HMGN5 | ENSG00000198157.11 | transcript | ENST00000358130.7 | protein_coding | 1/6 | chrX | TogoVar | |||||||
RPS23_chr5_82268320_82283354 | 82270256 | CCAGGGCC others(3393): Show |
C | splice_region_variant | LOW | HG01243.hp1 HG01256.hp2 HG02258.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0018a0001c0001t0030 | a0001c0001t0003g0005 a0001c0001t0003g0012 a0001c0001t0003g0022 others(5): Show |
24 | 416 | 0.0577 | -3400 | c.*24 others(11): Show |
RPS23 | ENSG00000186468.13 | transcript | ENST00000296674.13 | protein_coding | 4/4 | chr5 | TogoVar | |||||||
ACOT9_chrX_23696055_23748276 | 23743665 | GGGCAGAT others(3389): Show |
G | upstream_gene_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0148 | 1 | 307 | 0.0033 | -3396 | c.-39 others(10): Show |
ACOT9 | ENSG00000123130.17 | transcript | ENST00000379303.10 | protein_coding | 390 | chrX | TogoVar |