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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPS6KA5_chr14_90842861_91065641 | 91044364 | AGAAAGAA others(2): Show |
A | intron_variant | MODIFIER | HG01256.hp1 HG02486.hp1 HG02572.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0169a0001c0001t0176others(5): Show | a0001c0001t0005g0294 a0001c0001t0169g0219 a0001c0001t0176g0285 others(5): Show |
8 | 304 | 0.0263 | -9 | c.103 others(28): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 1/16 | chr14 | TogoVar | |||||||
RPS6KA5_chr14_90842861_91065641 | 91063946 | TATCACTG others(2): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02647.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0066a0001c0001t0130others(1): Show | a0001c0001t0014g0209 a0001c0001t0066g0210 a0001c0001t0130g0208 others(1): Show |
4 | 304 | 0.0132 | -9 | c.-35 others(20): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 3306 | chr14 | TogoVar | |||||||
RPS6KB1_chr17_59888121_59955574 | 59895318 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG00673.hp2 others(57): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0261 a0001c0001t0002g0231 a0001c0001t0003g0001 others(54): Show |
60 | 189 | 0.3175 | -9 | c.141 others(26): Show |
RPS6KB1 | ENSG00000108443.14 | transcript | ENST00000225577.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPSA2_chr19_23758004_23833868 | 23761912 | CTTTCTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01168.hp1 HG01261.hp1 HG01978.hp2 others(20): Show |
a0001a0012a0013 | a0001c0001a0012c0015a0013c0013 | a0001c0001t0008a0001c0001t0011a0001c0001t0031others(8): Show | a0001c0001t0008g0099 a0001c0001t0008g0106 a0001c0001t0008g0108 others(20): Show |
23 | 364 | 0.0632 | -9 | c.-15 others(20): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 1091 | chr19 | TogoVar | |||||||
RPSA2_chr19_23758004_23833868 | 23810414 | AAAAAAAG others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00597.hp1 others(62): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0012a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(34): Show | a0001c0001t0001g0245 a0001c0001t0001g0259 a0001c0001t0001g0267 others(62): Show |
65 | 364 | 0.1786 | -9 | c.-93 others(26): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80585166 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(139): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(77): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(127): Show | a0001c0001t0002g0038 a0001c0001t0008g0042 a0001c0001t0008g0043 others(139): Show |
142 | 149 | 0.9530 | -9 | c.162 others(28): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80586863 | GTGTGATA others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(30): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0015a0001c0002t0015a0001c0002t0039others(29): Show | a0001c0001t0015g0088 a0001c0002t0015g0089 a0001c0002t0039g0091 others(30): Show |
33 | 194 | 0.1701 | -9 | c.163 others(28): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80596177 | AAATTGGT others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(30): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0015a0001c0002t0015a0001c0002t0039others(29): Show | a0001c0001t0015g0088 a0001c0002t0015g0089 a0001c0002t0039g0091 others(30): Show |
33 | 194 | 0.1701 | -9 | c.163 others(28): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 1/33 | chr17 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80616298 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp1 HG01081.hp2 others(12): Show |
a0001 | a0001c0036a0001c0037a0001c0083others(10): Show | a0001c0036t0004a0001c0037t0004a0001c0037t0053others(11): Show | a0001c0036t0004g0167 a0001c0036t0004g0168 a0001c0037t0004g0145 others(12): Show |
15 | 74 | 0.2027 | -9 | c.163 others(26): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80626776 | AATTATTA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(49): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(39): Show | a0001c0001t0015a0001c0002t0015a0001c0002t0039others(47): Show | a0001c0001t0015g0088 a0001c0002t0015g0089 a0001c0002t0039g0091 others(49): Show |
52 | 86 | 0.6047 | -9 | c.265 others(26): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80634599 | CGTACTGT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(39): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(32): Show | a0001c0001t0015a0001c0002t0015a0001c0002t0039others(37): Show | a0001c0001t0015g0088 a0001c0002t0015g0089 a0001c0002t0039g0091 others(39): Show |
42 | 137 | 0.3066 | -9 | c.265 others(26): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPUSD4_chr11_126197096_126216650 | 126214494 | TTTTTTTT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01884.hp1 HG02451.hp1 others(5): Show |
a0001a0002a0003 | a0001c0003a0002c0001a0003c0005 | a0001c0003t0001a0002c0001t0003a0003c0005t0006 | a0001c0003t0001g0021 a0001c0003t0001g0035 a0002c0001t0003g0004 others(1): Show |
8 | 413 | 0.0194 | -9 | c.-28 others(20): Show |
RPUSD4 | ENSG00000165526.9 | transcript | ENST00000298317.9 | protein_coding | 2845 | chr11 | TogoVar | |||||||
RRAD_chr16_66916685_66930535 | 66924693 | TAATAATA others(2): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG00738.hp1 HG01070.hp2 others(25): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0003 a0001c0002t0004g0031 |
28 | 384 | 0.0729 | -9 | c.370 others(24): Show |
RRAD | ENSG00000166592.13 | transcript | ENST00000299759.11 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
RRAGD_chr6_89359616_89417273 | 89396728 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG00735.hp1 others(57): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(5): Show | a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0034 others(53): Show |
60 | 185 | 0.3243 | -9 | c.149 others(26): Show |
RRAGD | ENSG00000025039.15 | transcript | ENST00000369415.9 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
RREB1_chr6_7102961_7256980 | 7107673 | GCGCCGCC others(2): Show |
G | upstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03098.hp1 others(2): Show |
a0002a0003a0030 | a0002c0004a0003c0012a0030c0043 | a0002c0004t0015a0003c0012t0003a0030c0043t0032 | a0002c0004t0015g0044 a0002c0004t0015g0203 a0002c0004t0015g0204 others(2): Show |
5 | 274 | 0.0182 | -9 | c.-67 others(18): Show |
RREB1 | ENSG00000124782.21 | transcript | ENST00000379938.7 | protein_coding | 287 | chr6 | TogoVar | |||||||
RREB1_chr6_7102961_7256980 | 7200273 | TGTGTGTG others(2): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG02015.hp2 HG02257.hp1 others(8): Show |
a0003a0005a0010others(2): Show | a0003c0002a0005c0003a0005c0014others(3): Show | a0003c0002t0023a0003c0002t0073a0005c0003t0011others(7): Show | a0003c0002t0023g0175 a0003c0002t0073g0190 a0005c0003t0011g0240 others(8): Show |
11 | 290 | 0.0379 | -9 | c.426 others(28): Show |
RREB1 | ENSG00000124782.21 | transcript | ENST00000379938.7 | protein_coding | 6/12 | chr6 | TogoVar | |||||||
RRP12_chr10_97351701_97406340 | 97387941 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01975.hp2 HG02293.hp1 others(5): Show |
a0003a0006 | a0003c0002a0006c0012 | a0003c0002t0001a0006c0012t0001 | a0003c0002t0001g0020 a0003c0002t0001g0234 a0003c0002t0001g0256 others(4): Show |
8 | 60 | 0.1333 | -9 | c.101 others(26): Show |
RRP12 | ENSG00000052749.14 | transcript | ENST00000370992.9 | protein_coding | 8/33 | chr10 | TogoVar | |||||||
RRP12_chr10_97351701_97406340 | 97398030 | TATATACG others(2): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02895.hp2 HG02970.hp2 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0219 a0001c0008t0001g0237 a0001c0008t0001g0238 |
3 | 398 | 0.0075 | -9 | c.370 others(26): Show |
RRP12 | ENSG00000052749.14 | transcript | ENST00000370992.9 | protein_coding | 2/33 | chr10 | TogoVar | |||||||
RRP15_chr1_218280293_218342983 | 218286904 | ACTATATT others(2): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02809.hp1 others(10): Show |
a0003a0008 | a0003c0003a0008c0010 | a0003c0003t0006a0003c0003t0036a0003c0003t0037others(8): Show | a0003c0003t0006g0305 a0003c0003t0036g0034 a0003c0003t0036g0038 others(9): Show |
13 | 358 | 0.0363 | -9 | c.139 others(26): Show |
RRP15 | ENSG00000067533.6 | transcript | ENST00000366932.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RRP15_chr1_218280293_218342983 | 218308062 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02809.hp1 others(9): Show |
a0003a0008 | a0003c0003a0008c0010 | a0003c0003t0006a0003c0003t0036a0003c0003t0037others(7): Show | a0003c0003t0006g0305 a0003c0003t0036g0034 a0003c0003t0036g0038 others(8): Show |
12 | 158 | 0.0759 | -9 | c.705 others(24): Show |
RRP15 | ENSG00000067533.6 | transcript | ENST00000366932.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RS1_chrX_18634688_18677108 | 18636336 | TTTATTAT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01106.hp1 HG01255.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0070 a0001c0001t0001g0109 a0001c0001t0002g0116 others(7): Show |
10 | 64 | 0.1563 | -9 | c.*56 others(20): Show |
RS1 | ENSG00000102104.9 | transcript | ENST00000379984.4 | protein_coding | 3351 | chrX | TogoVar | |||||||
RSBN1L_chr7_77691459_77788022 | 77742179 | AAATACAC others(2): Show |
A | intron_variant | MODIFIER | NA18946.hp1 NA18978.hp1 NA18981.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014 | a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0093 others(4): Show |
7 | 329 | 0.0213 | -9 | c.703 others(26): Show |
RSBN1L | ENSG00000187257.16 | transcript | ENST00000334955.13 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSF1_chr11_77655009_77825722 | 77658011 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01975.hp2 HG02056.hp2 HG02572.hp1 others(15): Show |
a0001a0009 | a0001c0001a0009c0014 | a0001c0001t0005a0001c0001t0009a0001c0001t0013others(5): Show | a0001c0001t0005g0038 a0001c0001t0005g0252 a0001c0001t0005g0253 others(15): Show |
18 | 23 | 0.7826 | -9 | c.*88 others(20): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 1997 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77671139 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01891.hp2 HG02165.hp1 others(5): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0006a0001c0001t0041others(1): Show | a0001c0001t0001g0274 a0001c0001t0001g0287 a0001c0001t0001g0290 others(5): Show |
8 | 292 | 0.0274 | -9 | c.375 others(26): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 15/15 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77692233 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01975.hp2 HG02056.hp2 HG02647.hp2 others(12): Show |
a0001a0009 | a0001c0001a0009c0014 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(4): Show | a0001c0001t0001g0264 a0001c0001t0005g0252 a0001c0001t0005g0253 others(12): Show |
15 | 143 | 0.1049 | -9 | c.282 others(27): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 8/15 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77753526 | GACGGTTT others(2): Show |
G | intron_variant | MODIFIER | HG02647.hp2 HG02922.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0242 a0001c0001t0009g0243 a0001c0001t0009g0244 others(1): Show |
4 | 350 | 0.0114 | -9 | c.280 others(26): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 2/15 | chr11 | TogoVar | |||||||
RSL1D1_chr16_11828850_11856542 | 11852794 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01261.hp2 HG02630.hp1 HG02965.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0041 a0001c0001t0009g0146 a0001c0001t0009g0147 others(3): Show |
7 | 200 | 0.0350 | -9 | c.-12 others(20): Show |
RSL1D1 | ENSG00000171490.13 | transcript | ENST00000571133.6 | protein_coding | 1253 | chr16 | TogoVar | |||||||
RSL24D1_chr15_55175806_55201941 | 55200085 | TGTTTTTT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG02559.hp1 HG02818.hp1 HG02970.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0006a0001c0002t0013 | a0001c0002t0004g0022 a0001c0002t0004g0093 a0001c0002t0004g0099 others(4): Show |
11 | 324 | 0.0340 | -9 | c.-32 others(20): Show |
RSL24D1 | ENSG00000137876.11 | transcript | ENST00000260443.9 | protein_coding | 3145 | chr15 | TogoVar | |||||||
RSPH10B2_chr7_6749103_6803765 | 6793079 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01261.hp1 HG01433.hp1 others(38): Show |
a0002a0003a0004others(2): Show | a0002c0002a0002c0005a0002c0006others(8): Show | a0002c0002t0001a0002c0005t0001a0002c0006t0001others(8): Show | a0002c0002t0001g0011 a0002c0002t0001g0032 a0002c0002t0001g0036 others(38): Show |
41 | 108 | 0.3796 | -9 | c.223 others(28): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | TogoVar | |||||||
RSPH10B_chr7_5921136_5975689 | 5940939 | AATAATTA others(2): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01175.hp1 HG01978.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0009a0002c0002a0003c0011others(1): Show | a0001c0009t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0009t0001g0007 a0002c0002t0001g0037 a0002c0002t0002g0049 others(3): Show |
6 | 55 | 0.1091 | -9 | c.175 others(28): Show |
RSPH10B | ENSG00000155026.17 | transcript | ENST00000404406.6 | protein_coding | 15/20 | chr7 | TogoVar | |||||||
RSPH10B_chr7_5921136_5975689 | 5940942 | AATTATTA others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00741.hp1 others(10): Show |
a0002a0003a0006 | a0002c0002a0003c0011a0006c0006 | a0002c0002t0002a0002c0002t0003a0003c0011t0002others(1): Show | a0002c0002t0002g0018 a0002c0002t0002g0038 a0002c0002t0002g0040 others(10): Show |
13 | 53 | 0.2453 | -9 | c.175 others(28): Show |
RSPH10B | ENSG00000155026.17 | transcript | ENST00000404406.6 | protein_coding | 15/20 | chr7 | TogoVar | |||||||
RSPH10B_chr7_5921136_5975689 | 5960070 | CACACACA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00621.hp1 others(24): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0013a0001c0014others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0013t0001others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(24): Show |
27 | 70 | 0.3857 | -9 | c.573 others(24): Show |
RSPH10B | ENSG00000155026.17 | transcript | ENST00000404406.6 | protein_coding | 6/20 | chr7 | TogoVar | |||||||
RSPH14_chr22_23054415_23146990 | 23065534 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00558.hp1 others(60): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0011t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(56): Show |
63 | 104 | 0.6058 | -9 | c.422 others(26): Show |
RSPH14 | ENSG00000100218.12 | transcript | ENST00000216036.9 | protein_coding | 4/6 | chr22 | TogoVar | |||||||
RSPH1_chr21_42467486_42501224 | 42477141 | GCCCCCTC others(2): Show |
G | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 NA18941.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0002 | a0001c0001t0004g0158 a0001c0001t0004g0171 a0001c0001t0004g0337 others(2): Show |
6 | 400 | 0.0150 | -9 | c.727 others(24): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar | |||||||
RSPH1_chr21_42467486_42501224 | 42477182 | GACCCCTC others(2): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG02132.hp2 NA18948.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0041 a0001c0001t0002g0195 a0001c0001t0006g0173 |
3 | 406 | 0.0074 | -9 | c.727 others(24): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar | |||||||
RSPH6A_chr19_45790713_45820308 | 45806670 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(181): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0007others(10): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(111): Show |
184 | 185 | 0.9946 | -9 | c.889 others(26): Show |
RSPH6A | ENSG00000104941.8 | transcript | ENST00000221538.8 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
RSPH6A_chr19_45790713_45820308 | 45811743 | GTATTATT others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(98): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0003a0001c0011others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0011t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0013 others(66): Show |
101 | 354 | 0.2853 | -9 | c.651 others(24): Show |
RSPH6A | ENSG00000104941.8 | transcript | ENST00000221538.8 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
RSPH9_chr6_43640036_43677600 | 43653446 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00741.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0016 a0001c0001t0001g0037 a0001c0001t0001g0041 others(7): Show |
12 | 276 | 0.0435 | -9 | c.394 others(26): Show |
RSPH9 | ENSG00000172426.16 | transcript | ENST00000372163.5 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RSPH9_chr6_43640036_43677600 | 43656036 | CCCCTTCT others(2): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02257.hp2 HG02486.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0103 a0001c0001t0004g0073 a0001c0001t0004g0105 others(5): Show |
9 | 314 | 0.0287 | -9 | c.523 others(24): Show |
RSPH9 | ENSG00000172426.16 | transcript | ENST00000372163.5 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RSPO2_chr8_107894316_108088620 | 108029054 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG02109.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0069 a0001c0001t0002g0068 a0001c0001t0002g0072 others(7): Show |
10 | 30 | 0.3333 | -9 | c.95- others(26): Show |
RSPO2 | ENSG00000147655.12 | transcript | ENST00000276659.10 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
RSPO2_chr8_107894316_108088620 | 108057055 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02922.hp2 HG03492.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 others(2): Show |
5 | 31 | 0.1613 | -9 | c.94+ others(26): Show |
RSPO2 | ENSG00000147655.12 | transcript | ENST00000276659.10 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
RSRC1_chr3_158105089_158550730 | 158171953 | TCAACAAC others(2): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01255.hp2 HG02257.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 others(10): Show |
13 | 257 | 0.0506 | -9 | c.321 others(28): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158175742 | GCAAACCA others(2): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02559.hp1 HG02647.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0002g0257 others(10): Show |
13 | 274 | 0.0474 | -9 | c.321 others(28): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158375159 | GTTATTAT others(2): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02056.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0001c0001t0002a0004c0003t0002 | a0001c0001t0001g0254 a0001c0001t0002g0002 a0001c0001t0002g0003 others(4): Show |
7 | 59 | 0.1186 | -9 | c.583 others(28): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158457730 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00558.hp1 others(46): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0004 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(10): Show | a0001c0001t0003g0042 a0001c0001t0003g0046 a0001c0001t0003g0118 others(46): Show |
49 | 273 | 0.1795 | -9 | c.584 others(26): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 6/9 | chr3 | TogoVar | |||||||
RSRC2_chr12_122498454_122531936 | 122513236 | TAAATAAA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp1 HG00621.hp2 others(97): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0021 others(46): Show |
100 | 380 | 0.2632 | -9 | c.725 others(26): Show |
RSRC2 | ENSG00000111011.18 | transcript | ENST00000331738.12 | protein_coding | 6/9 | chr12 | TogoVar | |||||||
RSU1_chr10_16585611_16822424 | 16616371 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00639.hp1 others(42): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(27): Show | a0001c0001t0002g0038 a0001c0001t0004g0035 a0001c0001t0004g0049 others(42): Show |
45 | 125 | 0.3600 | -9 | c.732 others(28): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 8/8 | chr10 | TogoVar | |||||||
RSU1_chr10_16585611_16822424 | 16643787 | AAGTATAT others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG01884.hp1 HG02040.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0125 a0001c0001t0001g0135 a0001c0001t0001g0151 others(18): Show |
21 | 188 | 0.1117 | -9 | c.732 others(28): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 8/8 | chr10 | TogoVar | |||||||
RSU1_chr10_16585611_16822424 | 16679869 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02280.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0013others(6): Show | a0001c0001t0004g0022 a0001c0001t0004g0035 a0001c0001t0005g0112 others(9): Show |
12 | 57 | 0.2105 | -9 | c.731 others(28): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 8/8 | chr10 | TogoVar | |||||||
RSU1_chr10_16585611_16822424 | 16697987 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02717.hp1 HG03209.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0024a0001c0001t0042others(2): Show | a0001c0001t0013g0047 a0001c0001t0013g0067 a0001c0001t0024g0150 others(3): Show |
6 | 26 | 0.2308 | -9 | c.599 others(26): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 7/8 | chr10 | TogoVar |