| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RABGAP1L_chr1_174154520_175000308 | 174799930 | GCACACAC others(21): Show |
G | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0242 | 1 | 272 | 0.0037 | -28 | c.221 others(49): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RABGAP1L_chr1_174154520_175000308 | 174854715 | CTTTTTTT others(21): Show |
C | intron_variant | MODIFIER | HG00609.hp1 NA18995.hp2 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0038a0001c0001t0004g0223a0001c0001t0004g0259 | 3 | 272 | 0.0110 | -28 | c.234 others(49): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RABGAP1_chr9_122936020_123109866 | 123051216 | GTTTTTTT others(21): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00741.hp2 others(16): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0005a0001c0002t0049a0001c0002t0050others(9): Show | a0001c0002t0005g0032a0001c0002t0005g0034a0001c0002t0005g0036others(16): Show | 19 | 258 | 0.0736 | -28 | c.179 others(49): Show |
RABGAP1 | ENSG00000011454.18 | transcript | ENST00000373647.9 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| RABGAP1_chr9_122936020_123109866 | 123103588 | CATATATA others(21): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01243.hp1 HG02717.hp1 HG02809.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0056 | a0001c0001t0017g0026a0001c0001t0017g0249a0001c0001t0017g0251others(1): Show | 4 | 258 | 0.0155 | -28 | c.*39 others(37): Show |
RABGAP1 | ENSG00000011454.18 | transcript | ENST00000373647.9 | protein_coding | 26/26 | 397 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||
| RAC2_chr22_37220270_37249269 | 37225089 | GCCCTGAA others(21): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(330): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(154): Show | 333 | 448 | 0.7433 | -28 | c.*92 others(37): Show |
RAC2 | ENSG00000128340.16 | transcript | ENST00000249071.11 | protein_coding | 180 | chr22 | TogoVar | ||||||
| RAD51B_chr14_67814779_68483093 | 68428707 | TTATATAT others(21): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG02615.hp1 NA18944.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0001t0001g0061others(1): Show | 4 | 84 | 0.0476 | -28 | c.957 others(47): Show |
RAD51B | ENSG00000182185.19 | transcript | ENST00000471583.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| RAG2_chr11_36586943_36603236 | 36598509 | CTATTTTG others(21): Show |
C | upstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 420 | 0.0024 | -28 | c.-46 others(37): Show |
RAG2 | ENSG00000175097.9 | transcript | ENST00000311485.8 | protein_coding | 274 | chr11 | TogoVar | ||||||
| RAI14_chr5_34651328_34837612 | 34787893 | ATTTTTTT others(21): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp2 HG03139.hp2 |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0003a0001c0001t0007a0004c0013t0007 | a0001c0001t0003g0235a0001c0001t0007g0029a0004c0013t0007g0027 | 3 | 254 | 0.0118 | -28 | c.168 others(45): Show |
RAI14 | ENSG00000039560.14 | transcript | ENST00000265109.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| RALA_chr7_39618572_39713120 | 39684896 | CTTTTGCA others(21): Show |
C | intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 366 | 0.0027 | -28 | c.-37 others(45): Show |
RALA | ENSG00000006451.8 | transcript | ENST00000005257.7 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
| RALBP1_chr18_9470513_9543114 | 9486208 | CTCTTCCT others(21): Show |
C | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 362 | 0.0028 | -28 | c.-56 others(47): Show |
RALBP1 | ENSG00000017797.13 | transcript | ENST00000383432.8 | protein_coding | 1/9 | chr18 | TogoVar | ||||||
| RALBP1_chr18_9470513_9543114 | 9486209 | TCTTCCTT others(21): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0001a0001c0001t0004g0120a0001c0001t0005g0001 | 5 | 362 | 0.0138 | -28 | c.-56 others(47): Show |
RALBP1 | ENSG00000017797.13 | transcript | ENST00000383432.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| RALB_chr2_120247852_120299710 | 120272673 | GCTTCCTA others(21): Show |
G | intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0207 | 1 | 358 | 0.0028 | -28 | c.-47 others(45): Show |
RALB | ENSG00000144118.14 | transcript | ENST00000272519.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| RALGPS2_chr1_178720244_178926840 | 178856194 | GAGAGAGA others(21): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00642.hp1 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015a0001c0001t0018others(4): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0078others(53): Show | 56 | 306 | 0.1830 | -28 | c.608 others(47): Show |
RALGPS2 | ENSG00000116191.19 | transcript | ENST00000367635.8 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RALYL_chr8_84178274_84926844 | 84539828 | GTATACAT others(21): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG01071.hp1 HG01081.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0031a0001c0001t0001g0038a0001c0001t0001g0075others(14): Show | 17 | 82 | 0.2073 | -28 | c.256 others(47): Show |
RALYL | ENSG00000184672.12 | transcript | ENST00000521268.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RAMP1_chr2_237854623_237917106 | 237910583 | TCACACAG others(21): Show |
T | intron_variant | MODIFIER | HG02965.hp2 NA19043.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103a0001c0001t0001g0189a0001c0001t0001g0214 | 3 | 404 | 0.0074 | -28 | c.192 others(43): Show |
RAMP1 | ENSG00000132329.11 | transcript | ENST00000254661.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| RAMP1_chr2_237854623_237917106 | 237914459 | TGTGTGTG others(21): Show |
T | downstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 404 | 0.0025 | -28 | c.*26 others(39): Show |
RAMP1 | ENSG00000132329.11 | transcript | ENST00000254661.5 | protein_coding | 2354 | chr2 | TogoVar | ||||||
| RANGAP1_chr22_41239779_41291187 | 41242135 | AATATATA others(21): Show |
A | downstream_gene_variant | MODIFIER | HG01099.hp2 HG02886.hp1 HG02965.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0006a0001c0001t0011a0001c0002t0001others(2): Show | a0001c0001t0006g0298a0001c0001t0011g0035a0001c0002t0001g0183others(3): Show | 7 | 354 | 0.0198 | -28 | c.*44 others(39): Show |
RANGAP1 | ENSG00000100401.21 | transcript | ENST00000356244.8 | protein_coding | 2643 | chr22 | TogoVar | ||||||
| RANGAP1_chr22_41239779_41291187 | 41242143 | CATATATA others(21): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG01346.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0026others(8): Show | 12 | 354 | 0.0339 | -28 | c.*44 others(39): Show |
RANGAP1 | ENSG00000100401.21 | transcript | ENST00000356244.8 | protein_coding | 2635 | chr22 | TogoVar | ||||||
| RAPGEF2_chr4_159098079_159365173 | 159198271 | CTTCTTTC others(21): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00738.hp2 HG01261.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0001 | a0001c0001t0006g0187a0001c0002t0001g0006a0001c0002t0001g0107others(1): Show | 4 | 194 | 0.0206 | -28 | c.197 others(45): Show |
RAPGEF2 | ENSG00000109756.10 | transcript | ENST00000691494.1 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| RAPGEF2_chr4_159098079_159365173 | 159273626 | GTTTCTTT others(21): Show |
G | intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048 | 1 | 194 | 0.0052 | -28 | c.543 others(47): Show |
RAPGEF2 | ENSG00000109756.10 | transcript | ENST00000691494.1 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| RAPGEF2_chr4_159098079_159365173 | 159284481 | GACACACA others(21): Show |
G | intron_variant | MODIFIER | HG02818.hp2 HG02922.hp1 HG03139.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0033a0001c0001t0034 | a0001c0001t0005g0012a0001c0001t0005g0051a0001c0001t0005g0092others(3): Show | 6 | 194 | 0.0309 | -28 | c.544 others(47): Show |
RAPGEF2 | ENSG00000109756.10 | transcript | ENST00000691494.1 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| RAPGEF2_chr4_159098079_159365173 | 159284508 | ACACACAC others(21): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0002 | 1 | 194 | 0.0052 | -28 | c.544 others(47): Show |
RAPGEF2 | ENSG00000109756.10 | transcript | ENST00000691494.1 | protein_coding | 7/29 | chr4 | TogoVar | ||||||
| RAPGEF4_chr2_172730845_173057893 | 172926013 | CGGAGGGA others(21): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0174 | 1 | 178 | 0.0056 | -28 | c.537 others(45): Show |
RAPGEF4 | ENSG00000091428.18 | transcript | ENST00000397081.8 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| RAPGEF6_chr5_131418921_131640229 | 131516045 | CCTTTTTT others(21): Show |
C | intron_variant | MODIFIER | HG02145.hp2 | a0003 | a0003c0006 | a0003c0006t0025 | a0003c0006t0025g0253 | 1 | 324 | 0.0031 | -28 | c.627 others(45): Show |
RAPGEF6 | ENSG00000158987.22 | transcript | ENST00000509018.6 | protein_coding | 7/27 | chr5 | TogoVar | ||||||
| RAPGEF6_chr5_131418921_131640229 | 131516046 | CTTTTTTT others(21): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01978.hp1 HG03098.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0002g0010a0001c0001t0002g0018a0001c0001t0002g0025others(7): Show | 10 | 324 | 0.0309 | -28 | c.627 others(45): Show |
RAPGEF6 | ENSG00000158987.22 | transcript | ENST00000509018.6 | protein_coding | 7/27 | chr5 | TogoVar | ||||||
| RAPH1_chr2_203428682_203540301 | 203457193 | TTATTTAT others(21): Show |
T | intron_variant | MODIFIER | HG02523.hp2 NA18949.hp2 |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0011a0003c0009t0041 | a0001c0001t0011g0023a0003c0009t0041g0002 | 2 | 290 | 0.0069 | -28 | c.115 others(45): Show |
RAPH1 | ENSG00000173166.18 | transcript | ENST00000319170.10 | protein_coding | 8/13 | chr2 | TogoVar | ||||||
| RAPH1_chr2_203428682_203540301 | 203506733 | GATATATA others(21): Show |
G | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0007 | a0001c0007t0075 | a0001c0007t0075g0226 | 1 | 290 | 0.0035 | -28 | c.1-1 others(43): Show |
RAPH1 | ENSG00000173166.18 | transcript | ENST00000319170.10 | protein_coding | 1/13 | chr2 | TogoVar | ||||||
| RASA1_chr5_87262883_87396916 | 87287060 | GTATATAC others(21): Show |
G | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 282 | 0.0036 | -28 | c.539 others(47): Show |
RASA1 | ENSG00000145715.15 | transcript | ENST00000274376.11 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| RASA1_chr5_87262883_87396916 | 87287539 | TATATACA others(21): Show |
T | intron_variant | MODIFIER | HG01175.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0120a0001c0001t0009g0121 | 2 | 282 | 0.0071 | -28 | c.539 others(47): Show |
RASA1 | ENSG00000145715.15 | transcript | ENST00000274376.11 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| RASA2_chr3_141482027_141620344 | 141615520 | CTTTTTTT others(21): Show |
C | downstream_gene_variant | MODIFIER | NA18948.hp2 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190a0001c0001t0002g0191 | 2 | 280 | 0.0071 | -28 | c.*32 others(39): Show |
RASA2 | ENSG00000155903.14 | transcript | ENST00000286364.9 | protein_coding | 177 | chr3 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114036175 | ATCTCCCC others(21): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003 | 2 | 67 | 0.0299 | -28 | c.372 others(45): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 4/23 | chr13 | TogoVar | ||||||
| RASAL2_chr1_178089104_178483850 | 178242423 | TTCTCTCT others(21): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0140a0001c0001t0011g0141 | 2 | 180 | 0.0111 | -28 | c.203 others(47): Show |
RASAL2 | ENSG00000075391.18 | transcript | ENST00000367649.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RASAL2_chr1_178089104_178483850 | 178379140 | CAAGTGGA others(21): Show |
C | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0060 | 1 | 180 | 0.0056 | -28 | c.458 others(47): Show |
RASAL2 | ENSG00000075391.18 | transcript | ENST00000367649.8 | protein_coding | 3/17 | chr1 | TogoVar | ||||||
| RASGRF1_chr15_78954906_79095780 | 79059964 | TCACACAC others(21): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(65): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0022others(65): Show | 68 | 314 | 0.2166 | -28 | c.384 others(45): Show |
RASGRF1 | ENSG00000058335.16 | transcript | ENST00000558480.7 | protein_coding | 2/26 | chr15 | TogoVar | ||||||
| RASGRF2_chr5_80955363_81235162 | 81216358 | CACACACA others(21): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG03195.hp1 NA19030.hp1 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0011a0001c0007t0006 | a0001c0002t0011g0116a0001c0007t0006g0162a0001c0007t0006g0163 | 3 | 276 | 0.0109 | -28 | c.343 others(45): Show |
RASGRF2 | ENSG00000113319.13 | transcript | ENST00000265080.9 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| RB1CC1_chr8_52617458_52719435 | 52665266 | ATGAAAAA others(21): Show |
A | intron_variant | MODIFIER | NA18960.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0254 | 1 | 306 | 0.0033 | -28 | c.117 others(47): Show |
RB1CC1 | ENSG00000023287.13 | transcript | ENST00000025008.10 | protein_coding | 8/23 | chr8 | TogoVar | ||||||
| RB1CC1_chr8_52617458_52719435 | 52698669 | GGTTTTTT others(21): Show |
G | intron_variant | MODIFIER | HG01243.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0278 | 1 | 306 | 0.0033 | -28 | c.-16 others(49): Show |
RB1CC1 | ENSG00000023287.13 | transcript | ENST00000025008.10 | protein_coding | 1/23 | chr8 | TogoVar | ||||||
| RB1_chr13_48298751_48486890 | 48316719 | TCACACAC others(21): Show |
T | intron_variant | MODIFIER | HG02965.hp2 HG03041.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0258a0001c0001t0005g0294a0001c0001t0005g0295 | 3 | 306 | 0.0098 | -28 | c.264 others(45): Show |
RB1 | ENSG00000139687.16 | transcript | ENST00000267163.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| RB1_chr13_48298751_48486890 | 48441751 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | HG02965.hp2 HG03041.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0294a0001c0001t0005g0295a0001c0001t0005g0296others(1): Show | 4 | 306 | 0.0131 | -28 | c.169 others(49): Show |
RB1 | ENSG00000139687.16 | transcript | ENST00000267163.6 | protein_coding | 17/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| RB1_chr13_48298751_48486890 | 48459951 | TTTTCTTT others(21): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG02647.hp1 HG02809.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209a0001c0001t0001g0210a0001c0001t0001g0243others(7): Show | 10 | 306 | 0.0327 | -28 | c.210 others(45): Show |
RB1 | ENSG00000139687.16 | transcript | ENST00000267163.6 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| RBBP5_chr1_205081142_205126978 | 205093475 | AAAAAATA others(21): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0233 | 1 | 390 | 0.0026 | -28 | c.158 others(47): Show |
RBBP5 | ENSG00000117222.14 | transcript | ENST00000264515.11 | protein_coding | 13/13 | chr1 | TogoVar | ||||||
| RBBP5_chr1_205081142_205126978 | 205093479 | AATATATA others(21): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG00738.hp1 HG01074.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0165a0001c0001t0001g0175others(16): Show | 25 | 390 | 0.0641 | -28 | c.158 others(47): Show |
RBBP5 | ENSG00000117222.14 | transcript | ENST00000264515.11 | protein_coding | 13/13 | chr1 | TogoVar | ||||||
| RBBP5_chr1_205081142_205126978 | 205093507 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0232 | 1 | 390 | 0.0026 | -28 | c.158 others(47): Show |
RBBP5 | ENSG00000117222.14 | transcript | ENST00000264515.11 | protein_coding | 13/13 | chr1 | TogoVar | ||||||
| RBBP5_chr1_205081142_205126978 | 205093509 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02647.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0033a0001c0001t0040 | a0001c0001t0028g0153a0001c0001t0028g0155a0001c0001t0033g0234others(1): Show | 4 | 390 | 0.0103 | -28 | c.158 others(47): Show |
RBBP5 | ENSG00000117222.14 | transcript | ENST00000264515.11 | protein_coding | 13/13 | chr1 | TogoVar | ||||||
| RBBP8_chr18_22928328_23031486 | 22929495 | TGTGTGTG others(21): Show |
T | upstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0316 | 1 | 330 | 0.0030 | -28 | c.-41 others(39): Show |
RBBP8 | ENSG00000101773.19 | transcript | ENST00000327155.10 | protein_coding | 3832 | chr18 | TogoVar | ||||||
| RBBP9_chr20_18481540_18502225 | 18486145 | TATGTAAA others(21): Show |
T | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016 | a0001c0001t0002g0026a0001c0001t0016g0140 | 2 | 454 | 0.0044 | -28 | c.*35 others(39): Show |
RBBP9 | ENSG00000089050.16 | transcript | ENST00000337227.9 | protein_coding | 394 | chr20 | TogoVar | ||||||
| RBBP9_chr20_18481540_18502225 | 18486179 | AATATATA others(21): Show |
A | downstream_gene_variant | MODIFIER | NA18949.hp1 NA19001.hp2 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0030a0001c0001t0006g0046a0001c0001t0006g0094 | 3 | 454 | 0.0066 | -28 | c.*35 others(39): Show |
RBBP9 | ENSG00000089050.16 | transcript | ENST00000337227.9 | protein_coding | 360 | chr20 | TogoVar | ||||||
| RBFOX1_chr16_6014024_7718340 | 6315551 | GGATGGAT others(21): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG00741.hp1 others(18): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0025a0001c0001t0001g0053a0001c0001t0001g0059others(18): Show | 21 | 68 | 0.3088 | -28 | c.-12 others(47): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RBFOX1_chr16_6014024_7718340 | 6350444 | GAAAAAAA others(21): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG01261.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(3): Show | a0001c0001t0001g0025a0001c0001t0001g0053a0001c0001t0002g0012others(6): Show | 9 | 68 | 0.1324 | -28 | c.-64 others(47): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RBFOX1_chr16_6014024_7718340 | 6450811 | ATATATAC others(21): Show |
A | intron_variant | MODIFIER | HG03209.hp1 HG03471.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0036a0001c0001t0039 | a0001c0001t0003g0050a0001c0001t0036g0032a0001c0001t0039g0019 | 3 | 68 | 0.0441 | -28 | c.-64 others(49): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |