| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AHRR_chr5_316714_443285 | 415546 | TGGGAGGC others(61): Show |
T | intron_variant | MODIFIER | HG02257.hp2 | a0004 | a0004c0003 | a0004c0003t0027 | a0004c0003t0027g0092 | 1 | 268 | 0.0037 | -68 | c.441 others(85): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| AHRR_chr5_316714_443285 | 420856 | GCACGCAG others(61): Show |
G | intron_variant | MODIFIER | HG02109.hp1 NA19043.hp1 |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0009a0004c0003t0033 | a0001c0001t0009g0030a0004c0003t0033g0242 | 2 | 268 | 0.0075 | -68 | c.442 others(85): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| AK5_chr1_77277019_77564966 | 77391417 | ATATGTAT others(61): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0107 | 1 | 284 | 0.0035 | -68 | c.892 others(87): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| AK5_chr1_77277019_77564966 | 77444421 | TACATAGT others(61): Show |
T | intron_variant | MODIFIER | HG01257.hp1 NA18969.hp2 NA18988.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(2): Show | a0001c0001t0001g0098a0001c0001t0003g0171a0001c0001t0003g0229others(7): Show | 10 | 284 | 0.0352 | -68 | c.105 others(89): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| AK8_chr9_132720578_132883284 | 132812866 | ACTCACTG others(61): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG01257.hp1 HG01258.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0036others(2): Show | 5 | 266 | 0.0188 | -68 | c.979 others(85): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 10/12 | chr9 | TogoVar | ||||||
| AK8_chr9_132720578_132883284 | 132812955 | CAGATCAC others(61): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02258.hp2 HG02970.hp1 others(7): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0002t0002a0002c0003t0001 | a0002c0002t0001g0001a0002c0002t0001g0003a0002c0002t0001g0004others(7): Show | 10 | 266 | 0.0376 | -68 | c.979 others(85): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 10/12 | chr9 | TogoVar | ||||||
| AKAP17A_chrX_1586604_1607520 | 1587839 | CCCTCCCC others(61): Show |
C | upstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 151 | 0.0066 | -68 | c.-39 others(79): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3764 | chrX | TogoVar | ||||||
| ALG6_chr1_63362627_63443553 | 63400215 | ATATATAC others(61): Show |
A | intron_variant | MODIFIER | HG04184.hp2 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0320a0001c0001t0005g0139 | 2 | 388 | 0.0052 | -68 | c.168 others(85): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| AMFR_chr16_56356452_56430545 | 56397977 | AATATATA others(61): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0204a0001c0001t0010g0207 | 2 | 356 | 0.0056 | -68 | c.108 others(87): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 8/13 | chr16 | TogoVar | ||||||
| ANKRD11_chr16_89262630_89495561 | 89290338 | CGGGGGAG others(61): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0030 | a0030c0053 | a0030c0053t0001 | a0030c0053t0001g0138 | 1 | 310 | 0.0032 | -68 | c.601 others(83): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 6/12 | chr16 | TogoVar | ||||||
| ANKRD11_chr16_89262630_89495561 | 89290406 | TGGGGGAG others(61): Show |
T | intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0121 | 1 | 310 | 0.0032 | -68 | c.601 others(83): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 6/12 | chr16 | TogoVar | ||||||
| ANKRD36C_chr2_95844548_95996824 | 95884811 | TAACAGAG others(61): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02109.hp2 others(11): Show |
a0001a0005a0021others(1): Show | a0001c0005a0001c0050a0005c0008others(3): Show | a0001c0005t0001a0001c0050t0001a0005c0008t0001others(3): Show | a0001c0005t0001g0281a0001c0005t0001g0282a0001c0050t0001g0274others(10): Show | 14 | 298 | 0.0470 | -68 | c.418 others(85): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 72/87 | chr2 | TogoVar | ||||||
| ANKRD63_chr15_40273372_40288064 | 40287974 | AGAGCAAA others(61): Show |
A | upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 1 | 410 | 0.0024 | -68 | c.-54 others(79): Show |
ANKRD63 | ENSG00000230778.2 | transcript | ENST00000434396.2 | protein_coding | 4911 | chr15 | TogoVar | ||||||
| ANKS1A_chr6_34884255_35096406 | 34991703 | CATATATA others(61): Show |
C | intron_variant | MODIFIER | HG02257.hp2 NA19009.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0025a0001c0004t0004 | a0001c0001t0025g0193a0001c0004t0004g0225 | 2 | 320 | 0.0063 | -68 | c.130 others(87): Show |
ANKS1A | ENSG00000064999.16 | transcript | ENST00000360359.5 | protein_coding | 9/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| ANTXR1_chr2_69008179_69254327 | 69096286 | AAGGGAGG others(61): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00741.hp2 HG02698.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0088a0001c0001t0001g0167a0001c0001t0001g0205others(2): Show | 5 | 206 | 0.0243 | -68 | c.703 others(85): Show |
ANTXR1 | ENSG00000169604.21 | transcript | ENST00000303714.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| APBB2_chr4_40805027_41219542 | 40878048 | CATTAGAG others(61): Show |
C | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0024 | 1 | 192 | 0.0052 | -68 | c.152 others(89): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | ||||||
| AQP8_chr16_25211947_25233932 | 25216132 | CCTTCTTT others(61): Show |
C | upstream_gene_variant | MODIFIER | HG01346.hp1 HG02559.hp2 HG02572.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0003 | a0001c0001t0003g0062a0001c0001t0003g0075a0001c0001t0003g0195others(1): Show | 4 | 420 | 0.0095 | -68 | c.-91 others(77): Show |
AQP8 | ENSG00000103375.11 | transcript | ENST00000219660.6 | protein_coding | 814 | chr16 | TogoVar | ||||||
| ARHGAP6_chrX_11132544_11670920 | 11590773 | CTCGAAAA others(61): Show |
C | intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0031 | 1 | 144 | 0.0069 | -68 | c.588 others(87): Show |
ARHGAP6 | ENSG00000047648.23 | transcript | ENST00000337414.9 | protein_coding | 1/12 | chrX | TogoVar | ||||||
| ARHGEF11_chr1_156929840_157050742 | 157035871 | ATATATAT others(61): Show |
A | intron_variant | MODIFIER | HG02300.hp2 | a0006 | a0006c0009 | a0006c0009t0003 | a0006c0009t0003g0219 | 1 | 362 | 0.0028 | -68 | c.32+ others(83): Show |
ARHGEF11 | ENSG00000132694.19 | transcript | ENST00000368194.8 | protein_coding | 1/40 | chr1 | TogoVar | ||||||
| ARHGEF4_chr2_130831914_131052253 | 130959264 | TTCTTTTA others(61): Show |
T | intron_variant | MODIFIER | HG03041.hp1 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0104 | 1 | 144 | 0.0069 | -68 | c.398 others(89): Show |
ARHGEF4 | ENSG00000136002.21 | transcript | ENST00000409359.7 | protein_coding | 4/13 | chr2 | TogoVar | ||||||
| ARSG_chr17_68286495_68425814 | 68331177 | GTTTCTTT others(61): Show |
G | intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0199 | 1 | 304 | 0.0033 | -68 | c.219 others(87): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| ASIC2_chr17_33008087_33298295 | 33269664 | TTCCTTCC others(61): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG01515.hp1 HG01517.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0007a0001c0002t0002others(3): Show | a0001c0001t0003g0035a0001c0001t0003g0052a0001c0001t0007g0228others(11): Show | 14 | 240 | 0.0583 | -68 | c.708 others(87): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
| ASPSCR1_chr17_81972629_82022406 | 81990465 | CGCCTGCC others(61): Show |
C | intron_variant | MODIFIER | NA18970.hp2 NA18983.hp2 NA19043.hp2 |
a0001a0007 | a0001c0001a0007c0016 | a0001c0001t0001a0007c0016t0001 | a0001c0001t0001g0062a0007c0016t0001g0231a0007c0016t0001g0232 | 3 | 366 | 0.0082 | -68 | c.375 others(85): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| ATP10B_chr5_160558120_160857211 | 160783380 | CATATATA others(61): Show |
C | intron_variant | MODIFIER | HG00673.hp2 | a0021 | a0021c0034 | a0021c0034t0004 | a0021c0034t0004g0055 | 1 | 236 | 0.0042 | -68 | c.-33 others(87): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50072959 | TCTCTCTC others(61): Show |
T | intron_variant | MODIFIER | HG03516.hp1 | a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0249 | 1 | 254 | 0.0039 | -68 | c.87+ others(83): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
| AVPI1_chr10_97672424_97692241 | 97678880 | GGTGTGTG others(61): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG02559.hp2 NA18522.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0037a0002c0002t0002g0129 | 3 | 446 | 0.0067 | -68 | c.287 others(83): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | ||||||
| BAZ2B_chr2_159313979_159621548 | 159325049 | ATATATAT others(61): Show |
A | intron_variant | MODIFIER | HG02132.hp2 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0067 | 2 | 216 | 0.0093 | -68 | c.621 others(84): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 35/36 | chr2 | TogoVar | ||||||
| BCL11A_chr2_60452194_60558654 | 60507213 | AGGAAGGA others(61): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG01256.hp1 HG01258.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0021a0001c0001t0001g0031a0001c0001t0001g0063others(20): Show | 23 | 262 | 0.0878 | -68 | c.386 others(87): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
| BCOR_chrX_40046251_40102958 | 40046532 | AAATATAT others(61): Show |
A | downstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0108 | 1 | 257 | 0.0039 | -68 | c.*55 others(79): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4718 | chrX | TogoVar | ||||||
| BEGAIN_chr14_100532147_100592417 | 100546339 | ACCCCGGC others(61): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01099.hp1 HG01099.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0014a0001c0002t0001others(2): Show | a0001c0001t0001g0011a0001c0001t0001g0021a0001c0001t0001g0022others(29): Show | 33 | 326 | 0.1012 | -68 | c.233 others(82): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 3/6 | chr14 | TogoVar | ||||||
| BICD1_chr12_32101847_32388633 | 32346570 | ATATATAT others(61): Show |
A | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0022 | 1 | 290 | 0.0035 | -68 | c.276 others(87): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BPIFA3_chr20_33212352_33232806 | 33222567 | GATGGATG others(61): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02723.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027a0001c0001t0002g0048a0001c0001t0002g0054 | 4 | 416 | 0.0096 | -68 | c.128 others(85): Show |
BPIFA3 | ENSG00000131059.12 | transcript | ENST00000375454.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| C2CD3_chr11_74007718_74176002 | 74117048 | GTATATAT others(61): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00609.hp1 others(10): Show |
a0002a0003a0005others(1): Show | a0002c0003a0003c0002a0005c0006others(1): Show | a0002c0003t0001a0003c0002t0001a0005c0006t0001others(1): Show | a0002c0003t0001g0057a0002c0003t0001g0205a0002c0003t0001g0208others(9): Show | 13 | 318 | 0.0409 | -68 | c.152 others(87): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | ||||||
| C3_chr19_6672704_6725650 | 6700396 | TATGTAAT others(61): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02818.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0010a0001c0012a0001c0060 | a0001c0010t0001a0001c0012t0001a0001c0060t0002 | a0001c0010t0001g0227a0001c0012t0001g0025a0001c0012t0001g0149others(1): Show | 4 | 370 | 0.0108 | -68 | c.244 others(87): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 19/40 | chr19 | TogoVar | ||||||
| CACNA2D3_chr3_54117552_55079557 | 54736041 | ATATACAC others(61): Show |
A | intron_variant | MODIFIER | HG02922.hp1 HG02976.hp2 |
a0001 | a0001c0007a0001c0032 | a0001c0007t0001a0001c0032t0001 | a0001c0007t0001g0044a0001c0032t0001g0048 | 2 | 118 | 0.0170 | -68 | c.116 others(89): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CACNB2_chr10_18135424_18548557 | 18442932 | ATATATAT others(61): Show |
A | intron_variant | MODIFIER | HG03139.hp1 HG03225.hp1 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0002a0001c0006t0049 | a0001c0002t0002g0179a0001c0006t0049g0076 | 2 | 200 | 0.0100 | -68 | c.333 others(87): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CACNB2_chr10_18335709_18548557 | 18442932 | ATATATAT others(61): Show |
A | intron_variant | MODIFIER | HG03139.hp2 HG03225.hp2 NA18944.hp1 |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0002t0002a0001c0008t0068 | a0001c0001t0001g0213a0001c0002t0002g0293a0001c0008t0068g0066 | 3 | 302 | 0.0099 | -68 | c.171 others(87): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CAMK1D_chr10_12344547_12840545 | 12691361 | ATATATAT others(61): Show |
A | intron_variant | MODIFIER | NA18999.hp2 NA19091.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0067 | a0001c0001t0001g0071a0001c0002t0067g0053 | 2 | 214 | 0.0094 | -68 | c.299 others(87): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CAMK1D_chr10_12344547_12840545 | 12691363 | ATATATAT others(61): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(53): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0051a0001c0001t0001g0064a0001c0001t0001g0191others(53): Show | 56 | 214 | 0.2617 | -68 | c.299 others(87): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CAMK1D_chr10_12344547_12840545 | 12691365 | ATATATAT others(61): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp2 HG01981.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0009a0001c0001t0018others(6): Show | a0001c0001t0007g0183a0001c0001t0009g0213a0001c0001t0018g0090others(6): Show | 9 | 214 | 0.0421 | -68 | c.299 others(87): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CAMKMT_chr2_44356947_44777592 | 44409080 | GATATATA others(61): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG02071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164a0001c0001t0001g0185 | 2 | 198 | 0.0101 | -68 | c.376 others(87): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CAMKMT_chr2_44356947_44777592 | 44409115 | ATATATAT others(61): Show |
A | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0181 | 1 | 198 | 0.0051 | -68 | c.376 others(87): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CBFA2T3_chr16_88869858_88982207 | 88950434 | AGAGTGTT others(61): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp1 HG02486.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0025others(5): Show | a0001c0001t0001g0256a0001c0001t0002g0265a0001c0001t0025g0099others(6): Show | 9 | 284 | 0.0317 | -68 | c.151 others(87): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
| CCDC170_chr6_151489017_151626193 | 151512640 | CCCGAGTT others(61): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG01069.hp2 others(76): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0001c0032others(19): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(46): Show | a0001c0001t0002g0131a0001c0001t0002g0200a0001c0001t0003g0143others(76): Show | 79 | 320 | 0.2469 | -68 | c.57+ others(85): Show |
CCDC170 | ENSG00000120262.10 | transcript | ENST00000239374.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CCDC183_chr9_136791338_136812741 | 136802779 | AGGTCAAG others(61): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0015 | a0015c0024 | a0015c0024t0002 | a0015c0024t0002g0322 | 1 | 398 | 0.0025 | -68 | c.666 others(82): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CCDC183_chr9_136791338_136812741 | 136802875 | TGGGGGCC others(61): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01261.hp1 HG03098.hp2 others(2): Show |
a0001a0024 | a0001c0001a0024c0023 | a0001c0001t0001a0001c0001t0002a0024c0023t0002 | a0001c0001t0001g0295a0001c0001t0002g0293a0001c0001t0002g0294others(2): Show | 5 | 398 | 0.0126 | -68 | c.666 others(83): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CCDC183_chr9_136791338_136812741 | 136802943 | CGGGGGCC others(61): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01496.hp2 HG01952.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0156 | 5 | 398 | 0.0126 | -68 | c.666 others(83): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CCDC183_chr9_136791338_136812741 | 136803079 | CGGGGGCC others(61): Show |
C | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0333 | 1 | 398 | 0.0025 | -68 | c.666 others(83): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CCDC183_chr9_136791338_136812741 | 136803147 | TGGGGCCC others(61): Show |
T | intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 398 | 0.0025 | -68 | c.666 others(83): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CCDC183_chr9_136791338_136812741 | 136803219 | GCCCCCCA others(61): Show |
G | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0293 | 1 | 398 | 0.0025 | -68 | c.666 others(83): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |