| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NOTCH1_chr9_136489433_136551048 | 136535916 | C | CGGGGCAA others(344): Show |
intron_variant | MODIFIER | HG02109.hp1 NA18522.hp1 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0316a0001c0004t0003g0317 | 2 | 324 | 0.0062 | 351 | c.140 others(368): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
| NOVA1_chr14_26438090_26603033 | 26570993 | C | CAAGAATC others(344): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0233 | 1 | 244 | 0.0041 | 351 | c.280 others(370): Show |
NOVA1 | ENSG00000139910.20 | transcript | ENST00000539517.7 | protein_coding | 2/4 | chr14 | TogoVar | |||||||
| NPSR1_chr7_34653218_34854978 | 34747142 | A | AAAAAAGA others(344): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0182 | 1 | 260 | 0.0039 | 351 | c.281 others(370): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| NRF1_chr7_129606720_129762076 | 129642756 | A | ACTTTTTT others(344): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 384 | 0.0026 | 351 | c.-6- others(368): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
| NRROS_chr3_196634694_196667004 | 196634721 | G | GGAGAAGT others(344): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 472 | 0.0021 | 351 | c.-51 others(362): Show |
NRROS | ENSG00000174004.6 | transcript | ENST00000328557.5 | protein_coding | 4972 | chr3 | TogoVar | |||||||
| NRXN2_chr11_64601174_64728197 | 64706162 | A | ATATATAA others(344): Show |
intron_variant | MODIFIER | HG02809.hp2 NA20300.hp1 |
a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0219a0002c0005t0002g0220 | 2 | 308 | 0.0065 | 351 | c.730 others(368): Show |
NRXN2 | ENSG00000110076.21 | transcript | ENST00000265459.11 | protein_coding | 2/22 | chr11 | TogoVar | |||||||
| NRXN2_chr11_64601174_64728197 | 64706162 | A | ATATATAA others(344): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02132.hp1 HG03927.hp2 others(2): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0166a0002c0004t0001g0168a0002c0004t0001g0169others(2): Show | 5 | 308 | 0.0162 | 351 | c.730 others(368): Show |
NRXN2 | ENSG00000110076.21 | transcript | ENST00000265459.11 | protein_coding | 2/22 | chr11 | TogoVar | |||||||
| NRXN2_chr11_64601174_64728197 | 64706162 | A | ATATATAA others(344): Show |
intron_variant | MODIFIER | HG03831.hp2 NA18951.hp1 NA18990.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0118a0002c0004t0001g0126a0002c0004t0001g0213 | 3 | 308 | 0.0097 | 351 | c.730 others(368): Show |
NRXN2 | ENSG00000110076.21 | transcript | ENST00000265459.11 | protein_coding | 2/22 | chr11 | TogoVar | |||||||
| NRXN2_chr11_64601174_64728197 | 64706162 | A | ATATATAA others(344): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0112 | 1 | 308 | 0.0033 | 351 | c.730 others(368): Show |
NRXN2 | ENSG00000110076.21 | transcript | ENST00000265459.11 | protein_coding | 2/22 | chr11 | TogoVar | |||||||
| NRXN2_chr11_64601174_64728197 | 64706162 | A | ATATATTA others(344): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0279 | 1 | 308 | 0.0033 | 351 | c.730 others(368): Show |
NRXN2 | ENSG00000110076.21 | transcript | ENST00000265459.11 | protein_coding | 2/22 | chr11 | TogoVar | |||||||
| NUDT6_chr4_122887577_122927597 | 122913766 | T | TTCTCTCT others(344): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0248 | 1 | 368 | 0.0027 | 351 | c.443 others(368): Show |
NUDT6 | ENSG00000170917.14 | transcript | ENST00000304430.10 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
| NUP93_chr16_56725129_56855286 | 56808131 | A | AAATATAT others(344): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0247 | 1 | 378 | 0.0027 | 351 | c.489 others(368): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 841443 | T | TCCCCCCG others(344): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0091 | 1 | 242 | 0.0041 | 351 | c.361 others(370): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
| OR4K14_chr14_20009143_20024307 | 20016136 | A | ACTGAATG others(344): Show |
intron_variant | MODIFIER | HG00673.hp2 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 2 | 438 | 0.0046 | 351 | c.-29 others(366): Show |
OR4K14 | ENSG00000169484.4 | transcript | ENST00000641793.1 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
| OR4K14_chr14_20009143_20024307 | 20016136 | A | ACTGAATG others(344): Show |
intron_variant | MODIFIER | NA19012.hp1 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 | 2 | 438 | 0.0046 | 351 | c.-29 others(366): Show |
OR4K14 | ENSG00000169484.4 | transcript | ENST00000641793.1 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
| OSTF1_chr9_75083514_75152265 | 75139054 | C | CTTTCTTT others(344): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0279 | 1 | 366 | 0.0027 | 351 | c.487 others(368): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| OTOP1_chr4_4183726_4231929 | 4214972 | T | TAAAAATA others(344): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0345 | 1 | 428 | 0.0023 | 351 | c.404 others(368): Show |
OTOP1 | ENSG00000163982.6 | transcript | ENST00000296358.5 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
| P2RX5_chr17_3668227_3701155 | 3680778 | T | TGTCCTCC others(344): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02630.hp1 HG02723.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005a0002c0002t0001g0021a0002c0002t0001g0023others(1): Show | 5 | 362 | 0.0138 | 351 | c.106 others(368): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 10/11 | chr17 | TogoVar | |||||||
| PARP10_chr8_143972158_143991460 | 143981315 | G | GTGATGGT others(344): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 380 | 0.0026 | 351 | c.255 others(370): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | |||||||
| PARP10_chr8_143972158_143991460 | 143981349 | A | ATGGTGAT others(344): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0255 | 1 | 380 | 0.0026 | 351 | c.255 others(370): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | |||||||
| PATL1_chr11_59631716_59674037 | 59636010 | T | TAAAAATT others(344): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 NA18961.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0194 | 2 | 276 | 0.0073 | 351 | c.*23 others(362): Show |
PATL1 | ENSG00000166889.14 | transcript | ENST00000300146.10 | protein_coding | 705 | chr11 | TogoVar | |||||||
| PCBP3_chr21_45638725_45947450 | 45852503 | T | TAGCCACC others(344): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0097 | 1 | 292 | 0.0034 | 351 | c.10+ others(366): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| PCDHGA1_chr5_141325514_141517975 | 141333382 | T | TAGAAACG others(344): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01928.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0218a0001c0002t0005g0217 | 2 | 268 | 0.0075 | 351 | c.242 others(368): Show |
PCDHGA1 | ENSG00000204956.6 | transcript | ENST00000517417.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| PCSK5_chr9_75885673_76367975 | 76064184 | C | CCGACACC others(344): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0011 | a0011c0007 | a0011c0007t0008 | a0011c0007t0008g0006 | 1 | 166 | 0.0060 | 351 | c.633 others(368): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 5/37 | chr9 | TogoVar | |||||||
| PCSK5_chr9_75885673_76367975 | 76337136 | G | GAAGAATA others(344): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0018 | a0018c0069 | a0018c0069t0003 | a0018c0069t0003g0063 | 1 | 166 | 0.0060 | 351 | c.474 others(370): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 34/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| PDCD10_chr3_167678298_167739892 | 167684952 | A | AAAAATAT others(344): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18941.hp2 NA18981.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0086a0001c0001t0004g0091a0001c0001t0004g0105 | 3 | 284 | 0.0106 | 351 | c.558 others(366): Show |
PDCD10 | ENSG00000114209.15 | transcript | ENST00000392750.7 | protein_coding | 8/8 | chr3 | TogoVar | |||||||
| PDIA2_chr16_278164_292215 | 285937 | C | CCCCGCGG others(344): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 |
a0010 | a0010c0018 | a0010c0018t0001 | a0010c0018t0001g0020 | 2 | 436 | 0.0046 | 351 | c.111 others(368): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| PDZRN4_chr12_41183320_41579745 | 41429793 | T | TCTTATTT others(344): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0097 | 1 | 206 | 0.0049 | 351 | c.844 others(370): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| PEBP4_chr8_22708251_22932914 | 22922440 | C | CAAGACTA others(344): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0177 | 1 | 278 | 0.0036 | 351 | c.132 others(368): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 2/6 | chr8 | TogoVar | |||||||
| PEBP4_chr8_22708251_22932914 | 22922440 | C | CAAGACTA others(344): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00639.hp2 HG02572.hp1 others(9): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0002c0021others(3): Show | a0001c0001t0002a0002c0002t0002a0002c0021t0002others(3): Show | a0001c0001t0002g0199a0001c0001t0002g0200a0001c0001t0002g0201others(9): Show | 12 | 278 | 0.0432 | 351 | c.132 others(368): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 2/6 | chr8 | TogoVar | |||||||
| PGAM5_chr12_132705842_132727734 | 132718575 | G | GGTCCTGG others(344): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0198 | 1 | 394 | 0.0025 | 351 | c.719 others(366): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| PGAM5_chr12_132705842_132727734 | 132718575 | G | GGTCCTGG others(344): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0214 | 1 | 394 | 0.0025 | 351 | c.719 others(366): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| PGAM5_chr12_132705842_132727734 | 132718575 | G | GGTCCTGG others(344): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0207 | 1 | 394 | 0.0025 | 351 | c.719 others(366): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| PIAS4_chr19_4002736_4044386 | 4011939 | T | TGTGTGGG others(344): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0218 | 1 | 334 | 0.0030 | 351 | c.28- others(364): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| PIMREG_chr17_6439455_6456469 | 6455724 | G | GGAGGGGA others(344): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0056 | 1 | 312 | 0.0032 | 351 | c.*53 others(362): Show |
PIMREG | ENSG00000129195.16 | transcript | ENST00000572447.6 | protein_coding | 4256 | chr17 | TogoVar | |||||||
| PIMREG_chr17_6439455_6456469 | 6455724 | G | GGAGGGGA others(344): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 1 | 312 | 0.0032 | 351 | c.*53 others(362): Show |
PIMREG | ENSG00000129195.16 | transcript | ENST00000572447.6 | protein_coding | 4256 | chr17 | TogoVar | |||||||
| PIMREG_chr17_6439455_6456469 | 6455730 | G | GGAGGAGA others(344): Show |
downstream_gene_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 312 | 0.0032 | 351 | c.*53 others(362): Show |
PIMREG | ENSG00000129195.16 | transcript | ENST00000572447.6 | protein_coding | 4262 | chr17 | TogoVar | |||||||
| PITPNM3_chr17_6446263_6561555 | 6455724 | G | GGAGGGGA others(344): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0038 | 1 | 218 | 0.0046 | 351 | c.262 others(366): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 19/19 | chr17 | TogoVar | |||||||
| PKD1L1_chr7_47769614_47953466 | 47793047 | T | TAAAAAAA others(344): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02004.hp1 HG02165.hp2 others(3): Show |
a0004a0008a0012others(2): Show | a0004c0012a0004c0161a0008c0081others(3): Show | a0004c0012t0001a0004c0161t0001a0008c0081t0001others(3): Show | a0004c0012t0001g0247a0004c0161t0001g0278a0008c0081t0001g0149others(3): Show | 6 | 306 | 0.0196 | 351 | c.835 others(368): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 55/56 | chr7 | TogoVar | |||||||
| PKD1L1_chr7_47769614_47953466 | 47793047 | T | TAAAAAAA others(344): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0004 | a0004c0056 | a0004c0056t0001 | a0004c0056t0001g0090 | 1 | 306 | 0.0033 | 351 | c.835 others(368): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 55/56 | chr7 | TogoVar | |||||||
| PLAC8L1_chr5_146079313_146110577 | 146096658 | T | TAAAAGTG others(344): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0051 | 1 | 368 | 0.0027 | 351 | c.256 others(368): Show |
PLAC8L1 | ENSG00000173261.9 | transcript | ENST00000311450.9 | protein_coding | 2/3 | chr5 | TogoVar | |||||||
| PLCB1_chr20_8127266_8889900 | 8809720 | A | AAATAAAT others(344): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 | 1 | 106 | 0.0094 | 351 | c.342 others(372): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 31/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| PLS3_chrX_115556174_115655861 | 115623837 | T | TAGAATTA others(344): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162 | 1 | 254 | 0.0039 | 351 | c.237 others(368): Show |
PLS3 | ENSG00000102024.19 | transcript | ENST00000355899.8 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| PPP6R2_chr22_50338327_50450090 | 50397738 | A | AGTGTGAC others(344): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 340 | 0.0029 | 351 | c.227 others(368): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| PRKCZ_chr1_2045411_2190395 | 2106778 | A | ACGTGTCA others(344): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0041 | 1 | 286 | 0.0035 | 351 | c.335 others(370): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PRUNE2_chr9_76606376_76911114 | 76752397 | A | ACTCACTC others(344): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0007 | a0007c0006 | a0007c0006t0001 | a0007c0006t0001g0178 | 1 | 240 | 0.0042 | 351 | c.757 others(370): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 6/18 | chr9 | TogoVar | |||||||
| PSMD5_chr9_120811053_120847922 | 120834376 | T | TAGAAACT others(344): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0066 | 1 | 356 | 0.0028 | 351 | c.174 others(366): Show |
PSMD5 | ENSG00000095261.14 | transcript | ENST00000210313.8 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
| RAB11FIP3_chr16_420649_528011 | 458534 | C | CGATGCCC others(344): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0178 | 1 | 295 | 0.0034 | 351 | c.715 others(368): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| RAB11FIP4_chr17_31386675_31543211 | 31515456 | A | ATATTGCC others(344): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02148.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0028a0001c0003t0006 | a0001c0001t0028g0087a0001c0003t0006g0066 | 2 | 310 | 0.0065 | 351 | c.337 others(368): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| RAB7B_chr1_205971740_206008395 | 205985758 | C | CACCAGGC others(344): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0261 | 1 | 330 | 0.0030 | 351 | c.397 others(364): Show |
RAB7B | ENSG00000276600.5 | transcript | ENST00000617070.5 | protein_coding | 4/5 | chr1 | TogoVar |