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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RRAGC_chr1_38833198_38864772 | 38858126 | CGTACCCA others(1): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG01175.hp1 HG01981.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0020 a0001c0002t0005g0031 a0001c0002t0005g0062 others(2): Show |
8 | 418 | 0.0191 | -8 | c.238 others(25): Show |
RRAGC | ENSG00000116954.8 | transcript | ENST00000373001.4 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
RRAGC_chr1_38833198_38864772 | 38861673 | ATTTTTTT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01168.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0013 | a0001c0001t0004g0008 a0001c0001t0004g0092 a0001c0001t0004g0095 others(2): Show |
11 | 418 | 0.0263 | -8 | c.-20 others(19): Show |
RRAGC | ENSG00000116954.8 | transcript | ENST00000373001.4 | protein_coding | 1902 | chr1 | TogoVar | |||||||
RRAGD_chr6_89359616_89417273 | 89362735 | AGGATGGA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00741.hp1 HG02135.hp1 HG02145.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0174 a0001c0001t0001g0194 a0001c0001t0003g0039 others(16): Show |
19 | 372 | 0.0511 | -8 | c.*53 others(19): Show |
RRAGD | ENSG00000025039.15 | transcript | ENST00000369415.9 | protein_coding | 1880 | chr6 | TogoVar | |||||||
RRAGD_chr6_89359616_89417273 | 89376300 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(166): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(31): Show | a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0034 others(154): Show |
169 | 372 | 0.4543 | -8 | c.902 others(25): Show |
RRAGD | ENSG00000025039.15 | transcript | ENST00000369415.9 | protein_coding | 5/6 | chr6 | TogoVar | |||||||
RRAGD_chr6_89359616_89417273 | 89396728 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG02055.hp2 NA18953.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0017 | a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0145 others(3): Show |
6 | 372 | 0.0161 | -8 | c.149 others(25): Show |
RRAGD | ENSG00000025039.15 | transcript | ENST00000369415.9 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14293124 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00642.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0002g0023 others(15): Show |
18 | 279 | 0.0645 | -8 | c.408 others(25): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 4/5 | chr11 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14302073 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(72): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0024 others(72): Show |
75 | 279 | 0.2688 | -8 | c.109 others(25): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RREB1_chr6_7102961_7256980 | 7188226 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp2 others(61): Show |
a0001a0002a0003others(15): Show | a0001c0001a0002c0004a0003c0002others(22): Show | a0001c0001t0001a0001c0001t0042a0002c0004t0015others(38): Show | a0001c0001t0001g0097 a0001c0001t0042g0187 a0002c0004t0015g0044 others(61): Show |
64 | 292 | 0.2192 | -8 | c.261 others(23): Show |
RREB1 | ENSG00000124782.21 | transcript | ENST00000379938.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RREB1_chr6_7102961_7256980 | 7200244 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG02258.hp1 HG02451.hp1 others(9): Show |
a0005a0007a0010others(2): Show | a0005c0056a0007c0011a0010c0021others(3): Show | a0005c0056t0010a0007c0011t0014a0007c0011t0051others(6): Show | a0005c0056t0010g0196 a0007c0011t0014g0199 a0007c0011t0014g0200 others(9): Show |
12 | 292 | 0.0411 | -8 | c.426 others(27): Show |
RREB1 | ENSG00000124782.21 | transcript | ENST00000379938.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RRM2B_chr8_102199502_102243961 | 102213963 | TGACCTAC others(1): Show |
T | intron_variant | MODIFIER | HG02132.hp2 NA18970.hp1 NA18979.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0175 a0001c0001t0001g0189 others(6): Show |
12 | 386 | 0.0311 | -8 | c.789 others(21): Show |
RRM2B | ENSG00000048392.13 | transcript | ENST00000251810.8 | protein_coding | 7/8 | chr8 | TogoVar | |||||||
RRM2B_chr8_102199502_102243961 | 102214766 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG01106.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0019 | a0001c0001t0001g0136 a0001c0002t0001g0046 a0001c0002t0019g0227 |
4 | 386 | 0.0104 | -8 | c.685 others(23): Show |
RRM2B | ENSG00000048392.13 | transcript | ENST00000251810.8 | protein_coding | 6/8 | chr8 | TogoVar | |||||||
RRM2_chr2_10117739_10136414 | 10119903 | CAAAAAAT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02559.hp1 HG02630.hp2 HG02647.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0025 a0001c0001t0003g0030 a0001c0001t0003g0031 others(1): Show |
4 | 358 | 0.0112 | -8 | c.-28 others(19): Show |
RRM2 | ENSG00000171848.16 | transcript | ENST00000304567.10 | protein_coding | 2835 | chr2 | TogoVar | |||||||
RRP12_chr10_97351701_97406340 | 97387941 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(93): Show |
a0001a0002a0003others(5): Show | a0001c0025a0001c0026a0002c0022others(8): Show | a0001c0025t0001a0001c0026t0001a0002c0022t0001others(9): Show | a0001c0025t0001g0285 a0001c0026t0001g0299 a0002c0022t0001g0293 others(90): Show |
96 | 400 | 0.2400 | -8 | c.101 others(25): Show |
RRP12 | ENSG00000052749.14 | transcript | ENST00000370992.9 | protein_coding | 8/33 | chr10 | TogoVar | |||||||
RRP1B_chr21_43654560_43701079 | 43681261 | CAGATAGA others(1): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG02965.hp1 NA18974.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0006t0005a0002c0002t0002 | a0001c0001t0001g0116 a0001c0001t0001g0129 a0001c0006t0005g0271 others(1): Show |
4 | 372 | 0.0108 | -8 | c.797 others(25): Show |
RRP1B | ENSG00000160208.13 | transcript | ENST00000340648.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
RRP1_chr21_43784577_43810293 | 43785084 | GTGTATAT others(1): Show |
G | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02818.hp2 HG02886.hp2 others(3): Show |
a0001a0007 | a0001c0001a0001c0004a0001c0008others(1): Show | a0001c0001t0008a0001c0004t0004a0001c0004t0016others(2): Show | a0001c0001t0008g0075 a0001c0004t0004g0082 a0001c0004t0016g0113 others(2): Show |
6 | 394 | 0.0152 | -8 | c.-45 others(19): Show |
RRP1 | ENSG00000160214.13 | transcript | ENST00000497547.2 | protein_coding | 4492 | chr21 | TogoVar | |||||||
RRP1_chr21_43784577_43810293 | 43785086 | GTATATAT others(1): Show |
G | upstream_gene_variant | MODIFIER | HG02622.hp1 HG02717.hp1 HG02895.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0025 | a0002c0002t0001g0003 a0002c0002t0001g0030 a0002c0002t0001g0094 others(1): Show |
6 | 394 | 0.0152 | -8 | c.-45 others(19): Show |
RRP1 | ENSG00000160214.13 | transcript | ENST00000497547.2 | protein_coding | 4490 | chr21 | TogoVar | |||||||
RRP36_chr6_43016623_43034599 | 43027762 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG02145.hp2 HG02258.hp1 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0033 a0002c0002t0001g0041 a0002c0002t0001g0104 others(8): Show |
13 | 334 | 0.0389 | -8 | c.643 others(23): Show |
RRP36 | ENSG00000124541.7 | transcript | ENST00000244496.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RRP7A_chr22_42503344_42524796 | 42507078 | TTATTATT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(135): Show |
a0001a0002a0004others(1): Show | a0001c0003a0001c0006a0002c0001others(3): Show | a0001c0003t0003a0001c0003t0008a0001c0003t0010others(55): Show | a0001c0003t0003g0004 a0001c0003t0003g0014 a0001c0003t0003g0192 others(87): Show |
138 | 388 | 0.3557 | -8 | c.*58 others(19): Show |
RRP7A | ENSG00000189306.11 | transcript | ENST00000323013.7 | protein_coding | 1265 | chr22 | TogoVar | |||||||
RS1_chrX_18634688_18677108 | 18636375 | ATTATTAT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0249 | 1 | 308 | 0.0033 | -8 | c.*56 others(19): Show |
RS1 | ENSG00000102104.9 | transcript | ENST00000379984.4 | protein_coding | 3312 | chrX | TogoVar | |||||||
RS1_chrX_18634688_18677108 | 18651264 | TGAGAGAG others(1): Show |
T | intron_variant | MODIFIER | HG01943.hp1 HG02273.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0115 a0001c0001t0004g0175 |
2 | 308 | 0.0065 | -8 | c.185 others(25): Show |
RS1 | ENSG00000102104.9 | transcript | ENST00000379984.4 | protein_coding | 3/5 | chrX | TogoVar | |||||||
RS1_chrX_18634688_18677108 | 18665883 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 308 | 0.0033 | -8 | c.52+ others(23): Show |
RS1 | ENSG00000102104.9 | transcript | ENST00000379984.4 | protein_coding | 1/5 | chrX | TogoVar | |||||||
RSBN1L_chr7_77691459_77788022 | 77701091 | ACAGTAAG others(1): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02976.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0032 | a0001c0001t0019g0031 a0001c0001t0019g0032 a0001c0001t0032g0033 |
3 | 336 | 0.0089 | -8 | c.586 others(25): Show |
RSBN1L | ENSG00000187257.16 | transcript | ENST00000334955.13 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
RSBN1L_chr7_77691459_77788022 | 77701166 | AAAAACAA others(1): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02717.hp1 HG02818.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0010 | a0001c0001t0008g0020 a0001c0001t0008g0021 a0001c0001t0008g0022 others(5): Show |
8 | 336 | 0.0238 | -8 | c.586 others(25): Show |
RSBN1L | ENSG00000187257.16 | transcript | ENST00000334955.13 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSBN1L_chr7_77691459_77788022 | 77701169 | AACAACAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(109): Show |
a0001a0002a0006 | a0001c0001a0002c0003a0006c0010 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(16): Show | a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 others(108): Show |
112 | 336 | 0.3333 | -8 | c.586 others(25): Show |
RSBN1L | ENSG00000187257.16 | transcript | ENST00000334955.13 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSBN1L_chr7_77691459_77788022 | 77709152 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG01169.hp1 HG01175.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006a0001c0002t0039 | a0001c0002t0001g0311 a0001c0002t0001g0330 a0001c0002t0006g0263 others(2): Show |
5 | 336 | 0.0149 | -8 | c.586 others(27): Show |
RSBN1L | ENSG00000187257.16 | transcript | ENST00000334955.13 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSBN1L_chr7_77691459_77788022 | 77709190 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG01884.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0010a0001c0001t0011 | a0001c0001t0008g0022 a0001c0001t0010g0055 a0001c0001t0011g0079 |
3 | 336 | 0.0089 | -8 | c.586 others(27): Show |
RSBN1L | ENSG00000187257.16 | transcript | ENST00000334955.13 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSBN1L_chr7_77691459_77788022 | 77739739 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp1 others(64): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0010others(8): Show | a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0045 others(64): Show |
67 | 336 | 0.1994 | -8 | c.703 others(25): Show |
RSBN1L | ENSG00000187257.16 | transcript | ENST00000334955.13 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSBN1L_chr7_77691459_77788022 | 77750296 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01192.hp2 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0004t0005 | a0001c0001t0005g0193 a0001c0001t0005g0196 a0001c0001t0005g0200 others(7): Show |
10 | 336 | 0.0298 | -8 | c.134 others(25): Show |
RSBN1L | ENSG00000187257.16 | transcript | ENST00000334955.13 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSBN1_chr1_113756832_113817476 | 113799565 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG04199.hp1 NA18967.hp2 NA19006.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0009a0001c0002t0031 | a0001c0002t0003g0038 a0001c0002t0009g0244 a0001c0002t0031g0245 |
4 | 340 | 0.0118 | -8 | c.704 others(25): Show |
RSBN1 | ENSG00000081019.14 | transcript | ENST00000261441.9 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77658011 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01515.hp2 HG01517.hp1 others(4): Show |
a0001 | a0001c0001a0001c0009a0001c0010 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0001g0274 a0001c0001t0004g0160 a0001c0001t0004g0167 others(4): Show |
7 | 352 | 0.0199 | -8 | c.*88 others(19): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 1997 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77671138 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG02040.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0001g0290 a0001c0001t0001g0305 a0001c0001t0001g0311 others(13): Show |
16 | 352 | 0.0455 | -8 | c.375 others(25): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 15/15 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77696554 | CCCATTTT others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp2 others(78): Show |
a0001a0007a0009 | a0001c0002a0001c0009a0007c0018others(1): Show | a0001c0002t0003a0001c0002t0010a0001c0002t0014others(15): Show | a0001c0002t0003g0018 a0001c0002t0003g0019 a0001c0002t0003g0020 others(78): Show |
81 | 352 | 0.2301 | -8 | c.271 others(27): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 7/15 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77763040 | ATAAAAGA others(1): Show |
A | intron_variant | MODIFIER | NA18939.hp1 NA18941.hp1 NA18946.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0024 | a0001c0002t0003g0022 a0001c0002t0003g0023 a0001c0002t0003g0024 others(7): Show |
10 | 352 | 0.0284 | -8 | c.279 others(25): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 2/15 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77774573 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG03098.hp1 HG03669.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0001g0264 a0001c0001t0004g0180 a0001c0001t0006g0122 others(4): Show |
7 | 352 | 0.0199 | -8 | c.188 others(25): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 1/15 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77798581 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG02622.hp2 HG02717.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(1): Show | a0001c0001t0002g0112 a0001c0001t0002g0129 a0001c0001t0002g0130 others(4): Show |
7 | 352 | 0.0199 | -8 | c.187 others(27): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 1/15 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77813820 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp2 others(69): Show |
a0001a0007a0009 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0005a0001c0002t0003a0001c0002t0010others(15): Show | a0001c0001t0005g0038 a0001c0002t0003g0018 a0001c0002t0003g0022 others(69): Show |
72 | 352 | 0.2046 | -8 | c.187 others(25): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 1/15 | chr11 | TogoVar | |||||||
RSL24D1_chr15_55175806_55201941 | 55194803 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(55): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0002t0002a0001c0002t0008others(2): Show | a0001c0001t0014g0139 a0001c0002t0002g0005 a0001c0002t0002g0008 others(27): Show |
58 | 326 | 0.1779 | -8 | c.82- others(23): Show |
RSL24D1 | ENSG00000137876.11 | transcript | ENST00000260443.9 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
RSPH10B2_chr7_6749103_6803765 | 6755869 | GCAGTGAG others(1): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG01433.hp1 HG01891.hp1 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0029a0004c0004others(2): Show | a0001c0001t0003a0002c0029t0004a0004c0004t0004others(2): Show | a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0097 others(6): Show |
9 | 108 | 0.0833 | -8 | c.-20 others(27): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSPH10B2_chr7_6749103_6803765 | 6776873 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01884.hp2 HG01981.hp1 others(13): Show |
a0002a0003 | a0002c0002a0002c0005a0002c0011others(1): Show | a0002c0002t0001a0002c0005t0001a0002c0011t0001others(1): Show | a0002c0002t0001g0080 a0002c0005t0001g0020 a0002c0005t0001g0021 others(13): Show |
16 | 108 | 0.1482 | -8 | c.141 others(25): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSPH10B2_chr7_6749103_6803765 | 6785142 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG01071.hp2 HG02071.hp1 others(12): Show |
a0002a0003a0004others(2): Show | a0002c0005a0003c0003a0004c0007others(3): Show | a0002c0005t0001a0003c0003t0001a0004c0007t0004others(3): Show | a0002c0005t0001g0020 a0002c0005t0001g0021 a0002c0005t0001g0069 others(12): Show |
15 | 108 | 0.1389 | -8 | c.175 others(25): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSPH10B2_chr7_6749103_6803765 | 6792202 | GCATCACC others(1): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG01981.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 a0001c0001t0002g0042 |
2 | 108 | 0.0185 | -8 | c.223 others(25): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSPH10B2_chr7_6749103_6803765 | 6793080 | TTTTTTTT others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG01071.hp2 HG02148.hp2 others(11): Show |
a0001a0002a0004others(1): Show | a0001c0024a0002c0005a0002c0006others(4): Show | a0001c0024t0006a0002c0005t0001a0002c0006t0001others(6): Show | a0001c0024t0006g0014 a0002c0005t0001g0015 a0002c0005t0001g0024 others(11): Show |
14 | 108 | 0.1296 | -8 | c.223 others(27): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | chr7 | TogoVar | |||||||
RSPH10B2_chr7_6749103_6803765 | 6793214 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp1 HG01071.hp2 others(53): Show |
a0002a0003a0004others(3): Show | a0002c0002a0002c0005a0002c0006others(10): Show | a0002c0002t0001a0002c0002t0002a0002c0005t0001others(13): Show | a0002c0002t0001g0011 a0002c0002t0001g0035 a0002c0002t0001g0036 others(53): Show |
56 | 108 | 0.5185 | -8 | c.223 others(27): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSPH10B_chr7_5921136_5975689 | 5968905 | TTGGCTCA others(1): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG02523.hp2 others(1): Show |
a0001a0005a0012 | a0001c0010a0005c0003a0012c0012 | a0001c0010t0004a0005c0003t0001a0012c0012t0001 | a0001c0010t0004g0056 a0001c0010t0004g0057 a0005c0003t0001g0024 others(1): Show |
4 | 70 | 0.0571 | -8 | c.-20 others(27): Show |
RSPH10B | ENSG00000155026.17 | transcript | ENST00000404406.6 | protein_coding | 1/20 | chr7 | TogoVar | |||||||
RSPH14_chr22_23054415_23146990 | 23130084 | GAAGAAAG others(1): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG01255.hp1 others(30): Show |
a0001a0002a0007 | a0001c0002a0002c0003a0007c0013 | a0001c0002t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0029 others(30): Show |
33 | 314 | 0.1051 | -8 | c.421 others(25): Show |
RSPH14 | ENSG00000100218.12 | transcript | ENST00000216036.9 | protein_coding | 4/6 | chr22 | TogoVar | |||||||
RSPH14_chr22_23054415_23146990 | 23143292 | AAAATAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG02129.hp1 HG03540.hp1 NA18983.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 a0001c0002t0001g0072 a0001c0002t0001g0083 |
3 | 314 | 0.0096 | -8 | c.-14 others(19): Show |
RSPH14 | ENSG00000100218.12 | transcript | ENST00000216036.9 | protein_coding | 1303 | chr22 | TogoVar | |||||||
RSPH14_chr22_23054415_23146990 | 23143326 | AATAAATA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02109.hp1 HG03209.hp2 |
a0001a0004a0005 | a0001c0001a0004c0009a0005c0005 | a0001c0001t0001a0004c0009t0001a0005c0005t0001 | a0001c0001t0001g0312 a0004c0009t0001g0311 a0005c0005t0001g0243 |
3 | 314 | 0.0096 | -8 | c.-14 others(19): Show |
RSPH14 | ENSG00000100218.12 | transcript | ENST00000216036.9 | protein_coding | 1337 | chr22 | TogoVar | |||||||
RSPH6A_chr19_45790713_45820308 | 45806670 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG00673.hp2 others(109): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0001a0001c0003t0001a0001c0007t0001others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0020 others(92): Show |
112 | 424 | 0.2642 | -8 | c.889 others(25): Show |
RSPH6A | ENSG00000104941.8 | transcript | ENST00000221538.8 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
RSPH6A_chr19_45790713_45820308 | 45817417 | CTTTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00558.hp2 HG01070.hp2 HG01099.hp1 others(26): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0119 others(22): Show |
29 | 424 | 0.0684 | -8 | c.-22 others(19): Show |
RSPH6A | ENSG00000104941.8 | transcript | ENST00000221538.8 | protein_coding | 2110 | chr19 | TogoVar | |||||||
RSPO2_chr8_107894316_108088620 | 107921277 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG01069.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0069 a0001c0001t0003g0010 a0001c0001t0003g0012 others(33): Show |
36 | 240 | 0.1500 | -8 | c.617 others(27): Show |
RSPO2 | ENSG00000147655.12 | transcript | ENST00000276659.10 | protein_coding | 5/5 | chr8 | TogoVar |