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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RDH14_chr2_18549723_18565653 | 18562218 | TTCATGTG others(12): Show |
T | upstream_gene_variant | MODIFIER | HG02258.hp2 HG02486.hp1 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0019 | 2 | 452 | 0.0044 | -19 | c.-16 others(30): Show |
RDH14 | ENSG00000240857.2 | transcript | ENST00000381249.4 | protein_coding | 1566 | chr2 | TogoVar | |||||||
RECK_chr9_36031913_36129455 | 36104320 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 | 1 | 392 | 0.0026 | -19 | c.143 others(36): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
REEP3_chr10_63516401_63630128 | 63556615 | TTTTTTTT others(12): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02572.hp2 HG03540.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(5): Show | a0001c0001t0001g0092 a0001c0001t0005g0129 a0001c0001t0011g0131 others(5): Show |
8 | 284 | 0.0282 | -19 | c.33- others(34): Show |
REEP3 | ENSG00000165476.14 | transcript | ENST00000373758.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
REEP4_chr8_22133020_22146907 | 22138298 | ACATTGTG others(12): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00544.hp2 others(44): Show |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0002a0001c0001t0007a0006c0005t0011 | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0020 others(5): Show |
47 | 400 | 0.1175 | -19 | c.*17 others(28): Show |
REEP4 | ENSG00000168476.12 | transcript | ENST00000306306.8 | protein_coding | 8/8 | 170 | chr8 | TogoVar | ||||||
RELB_chr19_44996464_45043192 | 45013303 | CTAATTTT others(12): Show |
C | intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0304 | 1 | 382 | 0.0026 | -19 | c.504 others(36): Show |
RELB | ENSG00000104856.15 | transcript | ENST00000221452.13 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RELN_chr7_103466789_103994658 | 103782693 | CATCTAGT others(12): Show |
C | intron_variant | MODIFIER | NA18906.hp2 | a0006 | a0006c0013 | a0006c0013t0002 | a0006c0013t0002g0022 | 1 | 184 | 0.0054 | -19 | c.474 others(36): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 3/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103796890 | AAAAAGAA others(12): Show |
A | intron_variant | MODIFIER | HG03471.hp2 NA19030.hp2 |
a0001a0034 | a0001c0057a0034c0080 | a0001c0057t0001a0034c0080t0001 | a0001c0057t0001g0112 a0034c0080t0001g0155 |
2 | 184 | 0.0109 | -19 | c.474 others(38): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 3/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103926627 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG02723.hp1 NA18941.hp1 NA18952.hp2 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0002a0002c0009a0002c0015others(3): Show | a0001c0002t0001a0001c0002t0002a0002c0009t0001others(4): Show | a0001c0002t0001g0083 a0001c0002t0002g0005 a0002c0009t0001g0056 others(5): Show |
8 | 184 | 0.0435 | -19 | c.227 others(36): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 1/64 | chr7 | TogoVar | |||||||
RERG_chr12_15102783_15226417 | 15161136 | GAAAAAGA others(12): Show |
G | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0265 | 1 | 300 | 0.0033 | -19 | c.62- others(36): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
RETREG3_chr17_42574515_42614374 | 42596359 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02976.hp2 HG03834.hp1 NA18955.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0013 | a0001c0001t0002g0216 a0001c0001t0002g0224 a0001c0001t0002g0233 others(3): Show |
6 | 360 | 0.0167 | -19 | c.240 others(36): Show |
RETREG3 | ENSG00000141699.11 | transcript | ENST00000309428.10 | protein_coding | 1/8 | chr17 | TogoVar | |||||||
RETREG3_chr17_42574515_42614374 | 42597603 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0119 | 1 | 360 | 0.0028 | -19 | c.240 others(36): Show |
RETREG3 | ENSG00000141699.11 | transcript | ENST00000309428.10 | protein_coding | 1/8 | chr17 | TogoVar | |||||||
REV1_chr2_99395477_99495017 | 99454550 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0243 | 1 | 324 | 0.0031 | -19 | c.182 others(36): Show |
REV1 | ENSG00000135945.10 | transcript | ENST00000258428.8 | protein_coding | 3/22 | chr2 | TogoVar | |||||||
REV3L_chr6_111294033_111488218 | 111303682 | TTTTTTTA others(12): Show |
T | intron_variant | MODIFIER | HG02165.hp2 NA18942.hp1 NA18975.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0149 a0002c0002t0001g0170 a0002c0002t0001g0210 others(1): Show |
4 | 288 | 0.0139 | -19 | c.925 others(38): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 31/31 | chr6 | TogoVar | |||||||
REV3L_chr6_111294033_111488218 | 111338312 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG01255.hp1 others(10): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0003a0005c0004others(1): Show | a0001c0001t0002a0004c0003t0003a0005c0004t0003others(1): Show | a0001c0001t0002g0068 a0004c0003t0003g0026 a0005c0004t0003g0255 others(10): Show |
13 | 288 | 0.0451 | -19 | c.753 others(38): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 21/31 | chr6 | TogoVar | |||||||
REXO5_chr16_20801527_20854665 | 20820526 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02074.hp1 HG02135.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0058 a0001c0002t0001g0241 |
2 | 372 | 0.0054 | -19 | c.476 others(36): Show |
REXO5 | ENSG00000005189.20 | transcript | ENST00000261377.11 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
REXO5_chr16_20801527_20854665 | 20820528 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 372 | 0.0027 | -19 | c.476 others(36): Show |
REXO5 | ENSG00000005189.20 | transcript | ENST00000261377.11 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
REXO5_chr16_20801527_20854665 | 20820530 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG03490.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 a0001c0001t0001g0286 |
2 | 372 | 0.0054 | -19 | c.476 others(36): Show |
REXO5 | ENSG00000005189.20 | transcript | ENST00000261377.11 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
REXO5_chr16_20801527_20854665 | 20820532 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG03209.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0031 |
2 | 372 | 0.0054 | -19 | c.476 others(36): Show |
REXO5 | ENSG00000005189.20 | transcript | ENST00000261377.11 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
REXO5_chr16_20801527_20854665 | 20820534 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG01168.hp1 HG01358.hp2 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0280 a0001c0001t0001g0288 others(2): Show |
6 | 372 | 0.0161 | -19 | c.476 others(36): Show |
REXO5 | ENSG00000005189.20 | transcript | ENST00000261377.11 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
REXO5_chr16_20801527_20854665 | 20820536 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 372 | 0.0027 | -19 | c.476 others(36): Show |
REXO5 | ENSG00000005189.20 | transcript | ENST00000261377.11 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RFTN1_chr3_16310845_16518699 | 16438585 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0110 | 1 | 268 | 0.0037 | -19 | c.146 others(36): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 2/9 | chr3 | TogoVar | |||||||
RFX4_chr12_106578004_106767803 | 106737162 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG02486.hp1 HG02615.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0150 a0001c0001t0001g0195 a0001c0001t0001g0247 others(5): Show |
8 | 296 | 0.0270 | -19 | c.163 others(38): Show |
RFX4 | ENSG00000111783.13 | transcript | ENST00000392842.6 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RFX8_chr2_101392359_101480112 | 101394687 | CTTTCTTT others(12): Show |
C | downstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 352 | 0.0028 | -19 | c.*28 others(30): Show |
RFX8 | ENSG00000196460.14 | transcript | ENST00000428343.6 | protein_coding | 2671 | chr2 | TogoVar | |||||||
RFX8_chr2_101392359_101480112 | 101446480 | ATCAATTA others(12): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(204): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0015a0002c0002others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0107 others(188): Show |
207 | 352 | 0.5881 | -19 | c.72+ others(36): Show |
RFX8 | ENSG00000196460.14 | transcript | ENST00000428343.6 | protein_coding | 2/11 | chr2 | TogoVar | |||||||
RGL1_chr1_183800120_183933532 | 183805971 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0081 | 1 | 296 | 0.0034 | -19 | c.28- others(32): Show |
RGL1 | ENSG00000143344.16 | transcript | ENST00000360851.4 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RGL3_chr19_11389060_11424314 | 11405494 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG01515.hp1 HG01952.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0003a0002c0007a0003c0006others(3): Show | a0001c0003t0001a0001c0003t0002a0002c0007t0001others(4): Show | a0001c0003t0001g0327 a0001c0003t0002g0014 a0001c0003t0002g0065 others(6): Show |
9 | 402 | 0.0224 | -19 | c.997 others(32): Show |
RGL3 | ENSG00000205517.13 | transcript | ENST00000380456.8 | protein_coding | 7/18 | chr19 | TogoVar | |||||||
RGMB_chr5_98768663_98801494 | 98800120 | ATCATAGT others(12): Show |
A | downstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0018 | 1 | 376 | 0.0027 | -19 | c.*63 others(30): Show |
RGMB | ENSG00000174136.13 | transcript | ENST00000513185.3 | protein_coding | 3627 | chr5 | TogoVar | |||||||
RGPD1_chr2_86937118_87018976 | 86998511 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01943.hp1 HG02300.hp1 NA19057.hp1 others(1): Show |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0001a0006c0005t0001a0006c0005t0002 | a0001c0001t0001g0051 a0001c0001t0001g0057 a0006c0005t0001g0037 others(1): Show |
4 | 102 | 0.0392 | -19 | c.523 others(36): Show |
RGPD1 | ENSG00000187627.18 | transcript | ENST00000641458.2 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RGPD3_chr2_106398406_106473413 | 106399947 | AGACTATG others(12): Show |
A | downstream_gene_variant | MODIFIER | HG03195.hp2 | a0003 | a0003c0065 | a0003c0065t0006 | a0003c0065t0006g0197 | 1 | 382 | 0.0026 | -19 | c.*52 others(30): Show |
RGPD3 | ENSG00000153165.19 | transcript | ENST00000409886.4 | protein_coding | 3458 | chr2 | TogoVar | |||||||
RGPD3_chr2_106398406_106473413 | 106412293 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01081.hp2 HG01106.hp1 others(6): Show |
a0001a0022a0033others(1): Show | a0001c0007a0022c0052a0033c0062others(1): Show | a0001c0007t0014a0001c0007t0027a0001c0007t0046others(3): Show | a0001c0007t0014g0155 a0001c0007t0014g0158 a0001c0007t0014g0160 others(6): Show |
9 | 382 | 0.0236 | -19 | c.526 others(36): Show |
RGPD3 | ENSG00000153165.19 | transcript | ENST00000409886.4 | protein_coding | 22/22 | chr2 | TogoVar | |||||||
RGPD4_chr2_107821892_107897544 | 107845207 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG01069.hp2 others(18): Show |
a0002a0005a0009others(4): Show | a0002c0002a0005c0005a0009c0011others(4): Show | a0002c0002t0002a0005c0005t0004a0009c0011t0004others(4): Show | a0002c0002t0002g0172 a0005c0005t0004g0336 a0005c0005t0004g0337 others(18): Show |
21 | 374 | 0.0562 | -19 | c.782 others(36): Show |
RGPD4 | ENSG00000196862.10 | transcript | ENST00000408999.4 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RGPD5_chr2_109789305_109862705 | 109851193 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01884.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0010 a0001c0001t0010g0006 |
2 | 40 | 0.0500 | -19 | c.526 others(38): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RGPD8_chr2_112363369_112438645 | 112411570 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01358.hp1 | a0008 | a0008c0009 | a0008c0009t0006 | a0008c0009t0006g0010 | 1 | 254 | 0.0039 | -19 | c.978 others(34): Show |
RGPD8 | ENSG00000169629.12 | transcript | ENST00000302558.8 | protein_coding | 7/22 | chr2 | TogoVar | |||||||
RGS12_chr4_3288021_3444913 | 3355699 | GTGGGAGG others(12): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp2 HG02145.hp2 others(9): Show |
a0005 | a0005c0011a0005c0060a0005c0061others(2): Show | a0005c0011t0001a0005c0060t0001a0005c0061t0001others(2): Show | a0005c0011t0001g0139 a0005c0011t0001g0151 a0005c0011t0001g0152 others(9): Show |
12 | 312 | 0.0385 | -19 | c.199 others(40): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RGS12_chr4_3288021_3444913 | 3368687 | GTGGGGGT others(12): Show |
G | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0018 | 1 | 312 | 0.0032 | -19 | c.199 others(40): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RGS12_chr4_3288021_3444913 | 3402627 | ATTGGGTG others(12): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02622.hp1 HG02647.hp1 others(5): Show |
a0001a0008 | a0001c0002a0001c0005a0001c0013others(1): Show | a0001c0002t0001a0001c0005t0001a0001c0013t0001others(1): Show | a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 others(5): Show |
8 | 312 | 0.0256 | -19 | c.202 others(40): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RGS14_chr5_177352924_177377596 | 177371068 | CCGGGCCG others(12): Show |
C | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 418 | 0.0024 | -19 | c.125 others(34): Show |
RGS14 | ENSG00000169220.18 | transcript | ENST00000408923.8 | protein_coding | 11/14 | chr5 | TogoVar | |||||||
RGS19_chr20_64068181_64084518 | 64073626 | TGGCCCGC others(12): Show |
T | 3_prime_UTR_variant | MODIFIER | HG03491.hp2 HG03492.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0020 | 3 | 390 | 0.0077 | -19 | c.*20 others(28): Show |
RGS19 | ENSG00000171700.14 | transcript | ENST00000395042.2 | protein_coding | 6/6 | 208 | chr20 | TogoVar | ||||||
RGS20_chr8_53846795_53964303 | 53889408 | CTCTCTTT others(12): Show |
C | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030 | 1 | 258 | 0.0039 | -19 | c.510 others(36): Show |
RGS20 | ENSG00000147509.14 | transcript | ENST00000297313.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RGS21_chr1_192311992_192372285 | 192321848 | CCTTATAT others(12): Show |
C | intron_variant | MODIFIER | NA18954.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0242 | 1 | 302 | 0.0033 | -19 | c.-61 others(36): Show |
RGS21 | ENSG00000253148.1 | transcript | ENST00000417209.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RGS6_chr14_71927429_72571530 | 71930977 | CAAAAAAA others(12): Show |
C | upstream_gene_variant | MODIFIER | HG01192.hp1 HG01433.hp2 HG01884.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(3): Show | a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 others(5): Show |
8 | 130 | 0.0615 | -19 | c.-19 others(30): Show |
RGS6 | ENSG00000182732.18 | transcript | ENST00000553525.6 | protein_coding | 1451 | chr14 | TogoVar | |||||||
RGS6_chr14_71927429_72571530 | 72323800 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0026 | 1 | 130 | 0.0077 | -19 | c.85- others(36): Show |
RGS6 | ENSG00000182732.18 | transcript | ENST00000553525.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RGS6_chr14_71927429_72571530 | 72380041 | AGATGTGA others(12): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG01433.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042 a0001c0001t0003g0101 |
2 | 130 | 0.0154 | -19 | c.184 others(38): Show |
RGS6 | ENSG00000182732.18 | transcript | ENST00000553525.6 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RGS7_chr1_240770514_241362205 | 240895280 | CTTTCTTT others(12): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG02055.hp2 HG02145.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0044 a0001c0001t0002g0056 a0001c0001t0002g0109 others(4): Show |
7 | 112 | 0.0625 | -19 | c.386 others(38): Show |
RGS7 | ENSG00000182901.18 | transcript | ENST00000440928.6 | protein_coding | 6/18 | chr1 | TogoVar | |||||||
RHBDL2_chr1_38880807_38946830 | 38946499 | CTTTTCTC others(12): Show |
C | upstream_gene_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0285 | 1 | 364 | 0.0028 | -19 | c.-49 others(30): Show |
RHBDL2 | ENSG00000158315.11 | transcript | ENST00000372990.6 | protein_coding | 4670 | chr1 | TogoVar | |||||||
RHBDL3_chr17_32260832_32329659 | 32276759 | GTACTCCG others(12): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG02451.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(2): Show | a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0004g0171 others(9): Show |
12 | 306 | 0.0392 | -19 | c.136 others(36): Show |
RHBDL3 | ENSG00000141314.13 | transcript | ENST00000269051.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RHBDL3_chr17_32260832_32329659 | 32276816 | GTACTCCG others(12): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 306 | 0.0033 | -19 | c.136 others(36): Show |
RHBDL3 | ENSG00000141314.13 | transcript | ENST00000269051.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RHCE_chr1_25357249_25425825 | 25379485 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 NA18612.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0069 a0003c0003t0001g0242 a0003c0003t0001g0276 |
3 | 334 | 0.0090 | -19 | c.107 others(38): Show |
RHCE | ENSG00000188672.19 | transcript | ENST00000294413.13 | protein_coding | 7/9 | chr1 | TogoVar | |||||||
RHCE_chr1_25357249_25425825 | 25379487 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01258.hp2 HG01261.hp1 others(5): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0003 a0003c0003t0001g0217 a0003c0003t0001g0247 others(4): Show |
8 | 334 | 0.0240 | -19 | c.107 others(38): Show |
RHCE | ENSG00000188672.19 | transcript | ENST00000294413.13 | protein_coding | 7/9 | chr1 | TogoVar | |||||||
RHCG_chr15_89466407_89501583 | 89480148 | GATCATGG others(12): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG02572.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 a0001c0001t0002g0138 a0001c0001t0002g0249 |
3 | 360 | 0.0083 | -19 | c.670 others(33): Show |
RHCG | ENSG00000140519.14 | transcript | ENST00000268122.9 | protein_coding | 4/10 | chr15 | TogoVar |