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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RNPC3_chr1_103520699_103560239 | 103556188 | AATCTGTG | A | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02809.hp1 HG02965.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0167 others(1): Show |
9 | 368 | 0.0245 | -7 | c.*11 others(18): Show |
RNPC3 | ENSG00000185946.16 | transcript | ENST00000423855.7 | protein_coding | 950 | chr1 | TogoVar | |||||||
ROBO1_chr3_78592239_79772998 | 79519628 | CAAAAAAA | C | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp2 HG02451.hp1 others(1): Show |
a0001a0003 | a0001c0002a0001c0008a0003c0009 | a0001c0002t0004a0001c0008t0015a0003c0009t0017 | a0001c0002t0004g0001 a0001c0002t0004g0002 a0001c0008t0015g0043 others(1): Show |
4 | 11 | 0.3636 | -7 | c.88+ others(24): Show |
ROBO1 | ENSG00000169855.21 | transcript | ENST00000464233.6 | protein_coding | 2/30 | chr3 | TogoVar | |||||||
ROBO2_chr3_77035099_77654964 | 77090323 | CTTTTTTT | C | intron_variant | MODIFIER | HG01516.hp1 HG02145.hp2 HG03209.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(2): Show | a0001c0001t0002g0027 a0001c0001t0004g0133 a0001c0001t0011g0047 others(2): Show |
5 | 7 | 0.7143 | -7 | c.62- others(22): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77107801 | CTAACATT | C | intron_variant | MODIFIER | HG02738.hp2 HG04228.hp1 NA18960.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0008 | a0001c0001t0004g0026 a0001c0001t0007g0157 a0001c0001t0007g0158 others(1): Show |
4 | 160 | 0.0250 | -7 | c.388 others(24): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77374169 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG01071.hp1 HG01081.hp2 others(20): Show |
a0001a0009 | a0001c0001a0001c0006a0009c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0035 others(20): Show |
23 | 38 | 0.6053 | -7 | c.389 others(28): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77403611 | TGTGTGTA | T | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG02083.hp1 others(6): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(4): Show | a0001c0001t0001g0035 a0001c0001t0001g0074 a0001c0001t0001g0118 others(6): Show |
9 | 160 | 0.0563 | -7 | c.389 others(26): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | chr3 | TogoVar | |||||||
ROBO2_chr3_77035099_77654964 | 77428339 | ATTTTTTT | A | intron_variant | MODIFIER | HG00597.hp1 HG01081.hp1 HG01106.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0099 others(15): Show |
18 | 61 | 0.2951 | -7 | c.389 others(26): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ROCK1_chr18_20941906_21116813 | 20960304 | ACACAACT | A | intron_variant | MODIFIER | HG02145.hp2 HG02280.hp2 HG02615.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0001 a0001c0001t0008g0002 a0001c0001t0008g0003 others(1): Show |
4 | 210 | 0.0190 | -7 | c.335 others(23): Show |
ROCK1 | ENSG00000067900.9 | transcript | ENST00000399799.3 | protein_coding | 27/32 | chr18 | TogoVar | |||||||
ROCK1_chr18_20941906_21116813 | 21073063 | CAAAAAAA | C | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00673.hp2 others(28): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0002g0007 a0001c0001t0002g0015 a0001c0001t0002g0019 others(28): Show |
31 | 33 | 0.9394 | -7 | c.94- others(22): Show |
ROCK1 | ENSG00000067900.9 | transcript | ENST00000399799.3 | protein_coding | 1/32 | chr18 | TogoVar | |||||||
ROCK2_chr2_11174759_11349636 | 11216514 | CTTTTTTT | C | intron_variant | MODIFIER | HG01261.hp2 HG01884.hp1 HG02055.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0063 | a0001c0001t0004g0242 a0001c0001t0004g0243 a0001c0001t0004g0244 others(8): Show |
11 | 312 | 0.0353 | -7 | c.141 others(24): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 12/32 | chr2 | TogoVar | |||||||
ROCK2_chr2_11174759_11349636 | 11275257 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(111): Show |
a0001a0004 | a0001c0001a0001c0006a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(28): Show | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 others(111): Show |
114 | 308 | 0.3701 | -7 | c.324 others(26): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 3/32 | chr2 | TogoVar | |||||||
ROGDI_chr16_4791968_4807633 | 4795461 | CCTGGGGG | C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(74): Show |
a0001a0003a0004 | a0001c0001a0001c0012a0003c0005others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0012t0002others(2): Show | a0001c0001t0002g0002 a0001c0001t0002g0018 a0001c0001t0002g0022 others(12): Show |
77 | 412 | 0.1869 | -7 | c.*19 others(18): Show |
ROGDI | ENSG00000067836.13 | transcript | ENST00000322048.12 | protein_coding | 1506 | chr16 | TogoVar | |||||||
ROR1_chr1_63769017_64186498 | 63924932 | CTTTTTTT | C | intron_variant | MODIFIER | HG02451.hp1 HG03453.hp1 NA19030.hp1 others(1): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0008a0001c0001t0019others(1): Show | a0001c0001t0001g0015 a0001c0001t0008g0014 a0001c0001t0019g0065 others(1): Show |
4 | 63 | 0.0635 | -7 | c.92- others(24): Show |
ROR1 | ENSG00000185483.13 | transcript | ENST00000371079.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ROR1_chr1_63769017_64186498 | 64108092 | GTGTGTGT | G | intron_variant | MODIFIER | HG02896.hp1 HG02896.hp2 |
a0001 | a0001c0003a0001c0006 | a0001c0003t0002a0001c0006t0009 | a0001c0003t0002g0069 a0001c0006t0009g0006 |
2 | 96 | 0.0208 | -7 | c.483 others(26): Show |
ROR1 | ENSG00000185483.13 | transcript | ENST00000371079.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ROR1_chr1_63769017_64186498 | 64108395 | TAAAAAAA | T | intron_variant | MODIFIER | HG01192.hp1 HG01934.hp2 HG01978.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0013a0001c0002t0001others(12): Show | a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0035 others(18): Show |
21 | 22 | 0.9545 | -7 | c.483 others(26): Show |
ROR1 | ENSG00000185483.13 | transcript | ENST00000371079.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ROR2_chr9_91717601_91955228 | 91745426 | ATTTTTTT | A | intron_variant | MODIFIER | HG01993.hp1 HG01993.hp2 HG02300.hp1 others(2): Show |
a0002a0003a0004others(1): Show | a0002c0004a0002c0007a0003c0003others(2): Show | a0002c0004t0003a0002c0007t0001a0003c0003t0002others(2): Show | a0002c0004t0003g0066 a0002c0007t0001g0088 a0003c0003t0002g0054 others(2): Show |
5 | 60 | 0.0833 | -7 | c.495 others(24): Show |
ROR2 | ENSG00000169071.15 | transcript | ENST00000375708.4 | protein_coding | 4/8 | chr9 | TogoVar | |||||||
ROR2_chr9_91717601_91955228 | 91751702 | TAATACTC | T | intron_variant | MODIFIER | HG01081.hp2 HG02895.hp1 HG03453.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0022others(2): Show | a0001c0001t0001a0001c0005t0003a0001c0022t0001others(2): Show | a0001c0001t0001g0194 a0001c0005t0003g0126 a0001c0022t0001g0004 others(2): Show |
5 | 224 | 0.0223 | -7 | c.494 others(24): Show |
ROR2 | ENSG00000169071.15 | transcript | ENST00000375708.4 | protein_coding | 4/8 | chr9 | TogoVar | |||||||
ROR2_chr9_91717601_91955228 | 91756743 | CTTTTTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(70): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0009others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0003others(23): Show | a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0039 others(70): Show |
73 | 156 | 0.4679 | -7 | c.463 others(22): Show |
ROR2 | ENSG00000169071.15 | transcript | ENST00000375708.4 | protein_coding | 3/8 | chr9 | TogoVar | |||||||
ROR2_chr9_91717601_91955228 | 91826788 | AAAAAAAG | A | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG00642.hp1 others(25): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0014others(9): Show | a0001c0001t0001a0001c0005t0003a0001c0014t0006others(10): Show | a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0005t0003g0148 others(25): Show |
28 | 224 | 0.1250 | -7 | c.98- others(24): Show |
ROR2 | ENSG00000169071.15 | transcript | ENST00000375708.4 | protein_coding | 1/8 | chr9 | TogoVar | |||||||
ROR2_chr9_91717601_91955228 | 91845877 | CAAAAAAA | C | intron_variant | MODIFIER | HG01081.hp1 HG01358.hp2 HG02109.hp2 others(20): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(10): Show | a0001c0001t0001g0140 a0001c0001t0001g0176 a0001c0001t0001g0183 others(20): Show |
23 | 73 | 0.3151 | -7 | c.98- others(24): Show |
ROR2 | ENSG00000169071.15 | transcript | ENST00000375708.4 | protein_coding | 1/8 | chr9 | TogoVar | |||||||
ROR2_chr9_91717601_91955228 | 91922118 | CAACAACA | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00438.hp2 others(31): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0010others(8): Show | a0001c0001t0001a0001c0005t0003a0001c0010t0004others(9): Show | a0001c0001t0001g0064 a0001c0001t0001g0157 a0001c0001t0001g0158 others(31): Show |
34 | 224 | 0.1518 | -7 | c.97+ others(24): Show |
ROR2 | ENSG00000169071.15 | transcript | ENST00000375708.4 | protein_coding | 1/8 | chr9 | TogoVar | |||||||
RORA_chr15_60483284_61234302 | 60492061 | TAGAGAGG | T | 3_prime_UTR_variant | MODIFIER | HG02451.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0028 | a0001c0001t0022g0117 a0001c0001t0028g0016 |
2 | 113 | 0.0177 | -7 | c.*53 others(18): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 11/11 | 5387 | chr15 | TogoVar | ||||||
RORA_chr15_60483284_61234302 | 60516038 | TTTATATA | T | intron_variant | MODIFIER | HG02451.hp1 HG02572.hp1 HG02965.hp1 others(3): Show |
a0001 | a0001c0005a0001c0006 | a0001c0005t0004a0001c0005t0025a0001c0006t0004 | a0001c0005t0004g0024 a0001c0005t0004g0027 a0001c0005t0004g0082 others(3): Show |
6 | 118 | 0.0508 | -7 | c.283 others(24): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 3/10 | chr15 | TogoVar | |||||||
RORA_chr15_60483284_61234302 | 60518826 | CTGTATGG | C | intron_variant | MODIFIER | HG02451.hp1 HG02572.hp1 HG02965.hp1 others(3): Show |
a0001 | a0001c0005a0001c0006 | a0001c0005t0004a0001c0005t0025a0001c0006t0004 | a0001c0005t0004g0024 a0001c0005t0004g0027 a0001c0005t0004g0082 others(3): Show |
6 | 118 | 0.0508 | -7 | c.283 others(24): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 3/10 | chr15 | TogoVar | |||||||
RORA_chr15_60483284_61234302 | 60521290 | GGAGTGCA | G | intron_variant | MODIFIER | HG02258.hp1 HG03225.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0010a0001c0001t0047 | a0001c0001t0008g0033 a0001c0001t0010g0081 a0001c0001t0047g0023 |
3 | 118 | 0.0254 | -7 | c.283 others(24): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 3/10 | chr15 | TogoVar | |||||||
RORA_chr15_60483284_61234302 | 60592629 | GGGCGGGA | G | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00621.hp1 others(43): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(29): Show | a0001c0001t0001g0054 a0001c0001t0001g0083 a0001c0001t0001g0092 others(43): Show |
46 | 117 | 0.3932 | -7 | c.197 others(26): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 2/10 | chr15 | TogoVar | |||||||
RORA_chr15_60483284_61234302 | 60826785 | CTCTCTTT | C | intron_variant | MODIFIER | HG01169.hp2 HG02622.hp2 HG02717.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(5): Show | a0001c0001t0001g0035 a0001c0001t0006g0055 a0001c0001t0011g0021 others(5): Show |
8 | 118 | 0.0678 | -7 | c.167 others(28): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
RORA_chr15_60483284_61234302 | 60836413 | TATCCTTG | T | intron_variant | MODIFIER | HG02258.hp1 HG03486.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0008a0001c0003t0027 | a0001c0001t0008g0033 a0001c0003t0027g0039 |
2 | 118 | 0.0169 | -7 | c.167 others(28): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
RORA_chr15_60483284_61234302 | 60838887 | CATATACT | C | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG01099.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0053 a0001c0001t0002g0058 a0001c0001t0002g0060 others(20): Show |
23 | 117 | 0.1966 | -7 | c.167 others(28): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
RORA_chr15_60483284_61234302 | 60878343 | CAAAAAAA | C | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG02451.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0020a0001c0001t0030a0001c0001t0048others(4): Show | a0001c0001t0020g0108 a0001c0001t0030g0076 a0001c0001t0048g0022 others(5): Show |
8 | 59 | 0.1356 | -7 | c.167 others(28): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
RORA_chr15_60483284_61234302 | 61066418 | CTTTTTTT | C | intron_variant | MODIFIER | HG01123.hp2 HG01243.hp1 HG01358.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0050 | a0001c0001t0002g0064 a0001c0001t0011g0065 a0001c0001t0011g0066 others(1): Show |
4 | 84 | 0.0476 | -7 | c.166 others(28): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
RORA_chr15_60483284_61234302 | 61169115 | GCCTGACT | G | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00621.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(20): Show | a0001c0001t0001g0035 a0001c0001t0001g0054 a0001c0001t0002g0042 others(29): Show |
32 | 118 | 0.2712 | -7 | c.166 others(26): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
RORA_chr15_60483284_61234302 | 61186640 | CAAAAAAA | C | intron_variant | MODIFIER | HG00639.hp1 HG01884.hp2 HG02257.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0018others(12): Show | a0001c0001t0001g0035 a0001c0001t0001g0104 a0001c0001t0006g0099 others(14): Show |
17 | 20 | 0.8500 | -7 | c.166 others(26): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
RORA_chr15_60483284_61234302 | 61229303 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG01123.hp2 HG01168.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(10): Show | a0001c0001t0002g0042 a0001c0001t0002g0058 a0001c0001t0002g0059 others(14): Show |
17 | 32 | 0.5313 | -7 | c.-92 others(14): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 2 | chr15 | TogoVar | |||||||
ROS1_chr6_117282353_117430942 | 117326089 | GATTATAT | G | intron_variant | MODIFIER | HG01106.hp2 HG01884.hp2 HG01891.hp2 others(5): Show |
a0001a0003a0004others(3): Show | a0001c0019a0003c0024a0004c0074others(3): Show | a0001c0019t0003a0001c0019t0026a0003c0024t0002others(4): Show | a0001c0019t0003g0277 a0001c0019t0003g0281 a0001c0019t0026g0284 others(5): Show |
8 | 281 | 0.0285 | -7 | c.553 others(24): Show |
ROS1 | ENSG00000047936.11 | transcript | ENST00000368507.8 | protein_coding | 34/43 | chr6 | TogoVar | |||||||
ROS1_chr6_117282353_117430942 | 117430681 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(111): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0002a0001c0005others(33): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0004 a0001c0001t0001g0057 a0001c0001t0001g0059 others(110): Show |
114 | 208 | 0.5481 | -7 | c.-50 others(18): Show |
ROS1 | ENSG00000047936.11 | transcript | ENST00000368507.8 | protein_coding | 4740 | chr6 | TogoVar | |||||||
RP1L1_chr8_10601349_10660143 | 10617399 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00597.hp2 others(53): Show |
a0002a0004a0005others(20): Show | a0002c0002a0002c0030a0002c0033others(24): Show | a0002c0002t0002a0002c0002t0004a0002c0002t0008others(29): Show | a0002c0002t0002g0239 a0002c0002t0004g0011 a0002c0002t0004g0012 others(53): Show |
56 | 330 | 0.1697 | -7 | c.610 others(22): Show |
RP1L1 | ENSG00000183638.6 | transcript | ENST00000382483.4 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
RPA1_chr17_1825005_1905082 | 1825507 | CTTTCTTT | C | upstream_gene_variant | MODIFIER | HG00597.hp1 HG01099.hp1 NA18940.hp2 others(4): Show |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0131 a0001c0004t0002g0132 a0001c0004t0002g0134 others(4): Show |
7 | 345 | 0.0203 | -7 | c.-45 others(18): Show |
RPA1 | ENSG00000132383.12 | transcript | ENST00000254719.10 | protein_coding | 4497 | chr17 | TogoVar | |||||||
RPA1_chr17_1825005_1905082 | 1849289 | CTTTTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00544.hp1 others(99): Show |
a0001a0003 | a0001c0003a0001c0005a0001c0008others(2): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0006others(18): Show | a0001c0003t0001g0016 a0001c0003t0001g0223 a0001c0003t0001g0224 others(99): Show |
102 | 268 | 0.3806 | -7 | c.273 others(24): Show |
RPA1 | ENSG00000132383.12 | transcript | ENST00000254719.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPAP1_chr15_41512176_41549257 | 41539284 | TTTTTTTG | T | intron_variant | MODIFIER | HG02055.hp2 HG02083.hp1 HG02109.hp2 others(3): Show |
a0002a0003 | a0002c0001a0003c0003 | a0002c0001t0001a0003c0003t0001 | a0002c0001t0001g0176 a0003c0003t0001g0116 a0003c0003t0001g0117 others(3): Show |
6 | 412 | 0.0146 | -7 | c.-76 others(24): Show |
RPAP1 | ENSG00000103932.12 | transcript | ENST00000304330.9 | protein_coding | 1/24 | chr15 | TogoVar | |||||||
RPAP2_chr1_92294059_92407056 | 92343737 | AATTATAT | A | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp2 HG01069.hp1 others(42): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0010a0001c0001t0019others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0020 others(41): Show |
45 | 190 | 0.2368 | -7 | c.162 others(26): Show |
RPAP2 | ENSG00000122484.9 | transcript | ENST00000610020.2 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPE_chr2_209997638_210027260 | 210010281 | CTCCAATG | C | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02717.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009 | a0001c0001t0005g0014 a0001c0001t0005g0041 a0001c0001t0009g0104 |
7 | 368 | 0.0190 | -7 | c.202 others(22): Show |
RPE | ENSG00000197713.15 | transcript | ENST00000359429.11 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RPGRIP1L_chr16_53593153_53708859 | 53617073 | CAAAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG00673.hp2 others(27): Show |
a0004 | a0004c0004a0004c0010a0004c0014 | a0004c0004t0004a0004c0004t0013a0004c0010t0001others(1): Show | a0004c0004t0004g0014 a0004c0004t0004g0015 a0004c0004t0004g0016 others(27): Show |
30 | 111 | 0.2703 | -7 | c.361 others(26): Show |
RPGRIP1L | ENSG00000103494.16 | transcript | ENST00000647211.2 | protein_coding | 24/26 | chr16 | TogoVar | |||||||
RPGRIP1L_chr16_53593153_53708859 | 53643306 | TAAAAAAA | T | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02451.hp1 others(22): Show |
a0005a0006 | a0005c0006a0005c0009a0005c0023others(2): Show | a0005c0006t0001a0005c0006t0012a0005c0009t0001others(3): Show | a0005c0006t0001g0032 a0005c0006t0001g0335 a0005c0006t0001g0336 others(22): Show |
25 | 298 | 0.0839 | -7 | c.268 others(26): Show |
RPGRIP1L | ENSG00000103494.16 | transcript | ENST00000647211.2 | protein_coding | 17/26 | chr16 | TogoVar | |||||||
RPGRIP1_chr14_21275083_21356301 | 21295478 | ATTTTTTT | A | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG02004.hp1 others(15): Show |
a0002a0003a0005others(5): Show | a0002c0002a0003c0003a0005c0005others(6): Show | a0002c0002t0001a0003c0003t0001a0003c0003t0003others(8): Show | a0002c0002t0001g0082 a0003c0003t0001g0006 a0003c0003t0003g0008 others(15): Show |
18 | 55 | 0.3273 | -7 | c.218 others(22): Show |
RPGRIP1 | ENSG00000092200.13 | transcript | ENST00000400017.7 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPGRIP1_chr14_21275083_21356301 | 21306112 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(58): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0018others(5): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(6): Show | a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0004g0170 others(58): Show |
61 | 105 | 0.5810 | -7 | c.801 others(24): Show |
RPGRIP1 | ENSG00000092200.13 | transcript | ENST00000400017.7 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 275235 | AAAAAAAC | A | intron_variant | MODIFIER | HG00280.hp1 HG01192.hp1 HG01258.hp2 others(13): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0115 a0001c0001t0002g0061 a0001c0001t0002g0111 others(13): Show |
16 | 132 | 0.1212 | -7 | c.438 others(24): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 286434 | TGGCAGGG | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(57): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0027 others(57): Show |
60 | 132 | 0.4545 | -7 | c.352 others(24): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
RPL10_chrX_154393377_154407332 | 154407218 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02486.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004 a0002c0002t0002g0006 |
10 | 65 | 0.1538 | -7 | c.*63 others(18): Show |
RPL10 | ENSG00000147403.18 | transcript | ENST00000369817.7 | protein_coding | 4887 | chrX | TogoVar | |||||||
RPL23_chr17_38842860_38858721 | 38847376 | TAAAAAAA | T | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00642.hp2 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0001 a0001c0001t0002g0003 a0001c0001t0004g0004 others(8): Show |
72 | 106 | 0.6792 | -7 | c.*27 others(18): Show |
RPL23 | ENSG00000125691.14 | transcript | ENST00000479035.7 | protein_coding | 483 | chr17 | TogoVar |