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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
REXO4_chr9_133401062_133423010 | 133408934 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG01069.hp2 HG01071.hp1 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0001a0002c0003t0005a0003c0004t0003others(1): Show | a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0065 others(4): Show |
16 | 428 | 0.0374 | -8 | c.100 others(24): Show |
REXO4 | ENSG00000148300.12 | transcript | ENST00000371942.8 | protein_coding | 5/7 | chr9 | TogoVar | |||||||
REXO5_chr16_20801527_20854665 | 20820512 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG02015.hp1 HG02630.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0091 others(1): Show |
4 | 372 | 0.0108 | -8 | c.476 others(25): Show |
REXO5 | ENSG00000005189.20 | transcript | ENST00000261377.11 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
REXO5_chr16_20801527_20854665 | 20820538 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG02280.hp2 NA18961.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0003t0002 | a0001c0001t0002g0014 a0001c0001t0002g0076 a0001c0001t0002g0096 others(5): Show |
8 | 372 | 0.0215 | -8 | c.476 others(25): Show |
REXO5 | ENSG00000005189.20 | transcript | ENST00000261377.11 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RFC1_chr4_39282456_39371362 | 39292615 | ATTATTTA others(1): Show |
A | intron_variant | MODIFIER | HG01975.hp2 HG01978.hp1 HG03471.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0002t0002 | a0001c0001t0001g0006 a0001c0001t0001g0199 a0001c0001t0001g0207 others(2): Show |
5 | 276 | 0.0181 | -8 | c.295 others(25): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 22/24 | chr4 | TogoVar | |||||||
RFC1_chr4_39282456_39371362 | 39337435 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG01891.hp1 HG02451.hp2 others(13): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0008 | a0001c0001t0005a0001c0004t0001a0001c0004t0006others(1): Show | a0001c0001t0005g0030 a0001c0004t0001g0012 a0001c0004t0001g0014 others(13): Show |
16 | 276 | 0.0580 | -8 | c.331 others(25): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 4/24 | chr4 | TogoVar | |||||||
RFC1_chr4_39282456_39371362 | 39355098 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG02273.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0047 a0001c0002t0002g0101 a0001c0002t0002g0144 others(2): Show |
5 | 276 | 0.0181 | -8 | c.4-3 others(21): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 1/24 | chr4 | TogoVar | |||||||
RFC3_chr13_33813149_33842500 | 33820905 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG02809.hp2 HG02970.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 others(2): Show |
6 | 416 | 0.0144 | -8 | c.88- others(21): Show |
RFC3 | ENSG00000133119.13 | transcript | ENST00000380071.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RFC4_chr3_186784900_186811482 | 186809502 | ATGTGTGT others(1): Show |
A | upstream_gene_variant | MODIFIER | NA18940.hp1 NA18953.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0171 |
3 | 432 | 0.0069 | -8 | c.-32 others(19): Show |
RFC4 | ENSG00000163918.12 | transcript | ENST00000296273.7 | protein_coding | 3021 | chr3 | TogoVar | |||||||
RFC5_chr12_118011703_118037234 | 118023422 | GGGGAGGA others(1): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01071.hp2 others(105): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0018 others(43): Show |
108 | 438 | 0.2466 | -8 | c.421 others(25): Show |
RFC5 | ENSG00000111445.14 | transcript | ENST00000454402.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RFLNA_chr12_124290093_124321024 | 124300731 | CATGGATG others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01361.hp2 HG01496.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0109 a0001c0001t0008g0110 a0001c0001t0008g0111 others(3): Show |
6 | 388 | 0.0155 | -8 | c.207 others(25): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RFLNA_chr12_124290093_124321024 | 124300769 | TGGATTGA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp1 others(58): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0008 a0001c0001t0001g0214 a0001c0001t0001g0215 others(56): Show |
61 | 388 | 0.1572 | -8 | c.207 others(25): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RFLNA_chr12_124290093_124321024 | 124300777 | CGGATGGA others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00673.hp1 others(76): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0006a0001c0001t0008a0001c0001t0028others(7): Show | a0001c0001t0006g0004 a0001c0001t0006g0105 a0001c0001t0006g0107 others(73): Show |
79 | 388 | 0.2036 | -8 | c.207 others(25): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RFT1_chr3_53083483_53135435 | 53085412 | ACCCAGGG others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01099.hp1 HG01255.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0023 | a0001c0002t0001g0019 a0001c0002t0001g0173 a0001c0002t0001g0188 others(2): Show |
5 | 324 | 0.0154 | -8 | c.*64 others(19): Show |
RFT1 | ENSG00000163933.10 | transcript | ENST00000296292.8 | protein_coding | 3070 | chr3 | TogoVar | |||||||
RFT1_chr3_53083483_53135435 | 53094351 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG01256.hp2 HG02280.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0043 a0001c0002t0001g0021 a0001c0002t0001g0121 others(4): Show |
8 | 324 | 0.0247 | -8 | c.120 others(27): Show |
RFT1 | ENSG00000163933.10 | transcript | ENST00000296292.8 | protein_coding | 11/12 | chr3 | TogoVar | |||||||
RFTN1_chr3_16310845_16518699 | 16324646 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG02809.hp1 HG03098.hp2 NA19030.hp1 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0010 | a0002c0003t0001g0109 a0002c0003t0001g0134 a0002c0003t0010g0247 |
3 | 268 | 0.0112 | -8 | c.125 others(27): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 8/9 | chr3 | TogoVar | |||||||
RFTN1_chr3_16310845_16518699 | 16345817 | TGCGCGCG others(1): Show |
T | intron_variant | MODIFIER | HG02922.hp2 HG03516.hp2 HG03579.hp1 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0004 | a0002c0003t0001g0001 a0002c0003t0004g0012 a0002c0003t0004g0168 |
3 | 268 | 0.0112 | -8 | c.114 others(29): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 7/9 | chr3 | TogoVar | |||||||
RFTN1_chr3_16310845_16518699 | 16345828 | GTGCGCGC others(1): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG03195.hp1 HG03471.hp2 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0082 a0002c0003t0004g0171 a0002c0003t0004g0245 |
3 | 268 | 0.0112 | -8 | c.114 others(29): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 7/9 | chr3 | TogoVar | |||||||
RFTN1_chr3_16310845_16518699 | 16387570 | TTCTCTCT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(52): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0044 others(52): Show |
55 | 268 | 0.2052 | -8 | c.442 others(25): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
RFTN1_chr3_16310845_16518699 | 16387604 | CTCTCTCT others(1): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG02976.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001a0002c0003t0004 | a0001c0001t0001g0107 a0002c0003t0001g0109 a0002c0003t0004g0082 others(4): Show |
7 | 268 | 0.0261 | -8 | c.442 others(25): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
RFTN1_chr3_16310845_16518699 | 16391874 | TTTTTTTT others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp2 HG02559.hp1 others(12): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0118 a0001c0001t0001g0225 a0001c0001t0001g0243 others(12): Show |
15 | 268 | 0.0560 | -8 | c.442 others(27): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
RFTN1_chr3_16310845_16518699 | 16410212 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | NA18981.hp2 NA18983.hp1 NA18986.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0002a0001c0005t0001others(1): Show | a0001c0001t0001g0091 a0001c0001t0001g0210 a0001c0002t0002g0063 others(5): Show |
8 | 268 | 0.0299 | -8 | c.333 others(23): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
RFTN2_chr2_197563224_197680587 | 197604740 | CTATTTAT others(1): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG02559.hp2 HG02615.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0031 | a0001c0001t0003g0002 a0001c0001t0003g0148 a0001c0001t0003g0149 others(3): Show |
8 | 312 | 0.0256 | -8 | c.115 others(27): Show |
RFTN2 | ENSG00000162944.11 | transcript | ENST00000295049.9 | protein_coding | 7/8 | chr2 | TogoVar | |||||||
RFTN2_chr2_197563224_197680587 | 197604770 | ATTTATTT others(1): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01192.hp2 HG01943.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0219 a0001c0002t0001g0265 a0001c0002t0001g0266 others(1): Show |
4 | 312 | 0.0128 | -8 | c.115 others(27): Show |
RFTN2 | ENSG00000162944.11 | transcript | ENST00000295049.9 | protein_coding | 7/8 | chr2 | TogoVar | |||||||
RFTN2_chr2_197563224_197680587 | 197634720 | ATTATTTA others(1): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp1 HG02630.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0029 | a0001c0001t0010g0206 a0001c0001t0010g0208 a0001c0001t0010g0209 others(2): Show |
5 | 312 | 0.0160 | -8 | c.439 others(23): Show |
RFTN2 | ENSG00000162944.11 | transcript | ENST00000295049.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
RFWD3_chr16_74616399_74671877 | 74666182 | TTAGATAG others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00738.hp2 others(20): Show |
a0001a0003a0014 | a0001c0004a0001c0005a0003c0003others(1): Show | a0001c0004t0052a0001c0005t0007a0003c0003t0003others(3): Show | a0001c0004t0052g0379 a0001c0005t0007g0045 a0003c0003t0003g0028 others(18): Show |
23 | 412 | 0.0558 | -8 | c.-3+ others(21): Show |
RFWD3 | ENSG00000168411.14 | transcript | ENST00000361070.9 | protein_coding | 1/12 | chr16 | TogoVar | |||||||
RFX1_chr19_13956530_14011320 | 13994717 | ATATGTGT others(1): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG03130.hp1 HG03195.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0002others(1): Show | a0001c0001t0011a0001c0012t0014a0002c0002t0001others(1): Show | a0001c0001t0011g0014 a0001c0001t0011g0017 a0001c0012t0014g0265 others(3): Show |
6 | 280 | 0.0214 | -8 | c.-52 others(23): Show |
RFX1 | ENSG00000132005.9 | transcript | ENST00000254325.9 | protein_coding | 1/20 | chr19 | TogoVar | |||||||
RFX1_chr19_13956530_14011320 | 13994719 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG02004.hp2 HG02630.hp1 HG02895.hp1 others(2): Show |
a0002a0004 | a0002c0002a0004c0009a0004c0010 | a0002c0002t0001a0004c0009t0007a0004c0010t0007others(1): Show | a0002c0002t0001g0114 a0004c0009t0007g0011 a0004c0009t0007g0012 others(2): Show |
5 | 280 | 0.0179 | -8 | c.-52 others(23): Show |
RFX1 | ENSG00000132005.9 | transcript | ENST00000254325.9 | protein_coding | 1/20 | chr19 | TogoVar | |||||||
RFX1_chr19_13956530_14011320 | 13994893 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp1 HG01361.hp1 others(10): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0010 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(2): Show | a0001c0001t0001g0028 a0001c0001t0001g0061 a0001c0001t0001g0162 others(10): Show |
13 | 280 | 0.0464 | -8 | c.-52 others(24): Show |
RFX1 | ENSG00000132005.9 | transcript | ENST00000254325.9 | protein_coding | 1/20 | chr19 | TogoVar | |||||||
RFX1_chr19_13956530_14011320 | 14009699 | CAAATAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00673.hp1 HG01109.hp2 HG01515.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0002a0002c0002t0002a0003c0004t0002 | a0001c0001t0002g0005 a0001c0001t0002g0218 a0001c0001t0002g0259 others(5): Show |
9 | 280 | 0.0321 | -8 | c.-36 others(19): Show |
RFX1 | ENSG00000132005.9 | transcript | ENST00000254325.9 | protein_coding | 3380 | chr19 | TogoVar | |||||||
RFX2_chr19_5988164_6115500 | 6003778 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00438.hp2 others(80): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0023 others(80): Show |
83 | 308 | 0.2695 | -8 | c.150 others(25): Show |
RFX2 | ENSG00000087903.13 | transcript | ENST00000303657.10 | protein_coding | 13/17 | chr19 | TogoVar | |||||||
RFX2_chr19_5988164_6115500 | 6031423 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02965.hp1 HG03098.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0015 | a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 others(3): Show |
6 | 308 | 0.0195 | -8 | c.523 others(25): Show |
RFX2 | ENSG00000087903.13 | transcript | ENST00000303657.10 | protein_coding | 5/17 | chr19 | TogoVar | |||||||
RFX2_chr19_5988164_6115500 | 6035848 | GGGGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG02615.hp1 HG02965.hp1 HG03098.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0015 | a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 others(3): Show |
6 | 308 | 0.0195 | -8 | c.522 others(25): Show |
RFX2 | ENSG00000087903.13 | transcript | ENST00000303657.10 | protein_coding | 5/17 | chr19 | TogoVar | |||||||
RFX3_chr9_3213297_3531001 | 3292061 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG01261.hp1 HG02056.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0016others(2): Show | a0001c0001t0002g0017 a0001c0001t0002g0026 a0001c0001t0002g0112 others(9): Show |
12 | 196 | 0.0612 | -8 | c.731 others(25): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 6/16 | chr9 | TogoVar | |||||||
RFX3_chr9_3213297_3531001 | 3320768 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG01243.hp2 HG01256.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0033 a0001c0001t0001g0052 a0001c0001t0002g0017 others(17): Show |
20 | 196 | 0.1020 | -8 | c.474 others(25): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 4/16 | chr9 | TogoVar | |||||||
RFX3_chr9_3213297_3531001 | 3356155 | TGGAAGGA others(1): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG00673.hp2 HG01175.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0054 a0001c0001t0001g0176 a0001c0001t0003g0045 others(3): Show |
6 | 196 | 0.0306 | -8 | c.118 others(25): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 2/16 | chr9 | TogoVar | |||||||
RFX3_chr9_3213297_3531001 | 3356965 | ACACACAC others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG01891.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(7): Show | a0001c0001t0001g0126 a0001c0001t0003g0058 a0001c0001t0003g0141 others(10): Show |
13 | 196 | 0.0663 | -8 | c.118 others(27): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 2/16 | chr9 | TogoVar | |||||||
RFX3_chr9_3213297_3531001 | 3366693 | CCTTTCTT others(1): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG01891.hp1 HG02486.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0156 a0001c0001t0001g0175 a0001c0001t0002g0026 others(17): Show |
20 | 196 | 0.1020 | -8 | c.118 others(27): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 2/16 | chr9 | TogoVar | |||||||
RFX3_chr9_3213297_3531001 | 3379879 | AATTTATT others(1): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01243.hp1 HG01243.hp2 others(29): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0049 a0001c0001t0001g0060 a0001c0001t0001g0149 others(29): Show |
32 | 196 | 0.1633 | -8 | c.117 others(27): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 2/16 | chr9 | TogoVar | |||||||
RFX3_chr9_3213297_3531001 | 3414691 | TATATATG others(1): Show |
T | intron_variant | MODIFIER | HG03041.hp2 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0024 | a0001c0001t0004g0090 a0001c0001t0024g0147 |
2 | 196 | 0.0102 | -8 | c.-8- others(25): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
RFX3_chr9_3213297_3531001 | 3423778 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01952.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010 | a0001c0001t0005g0113 a0001c0001t0010g0021 |
2 | 196 | 0.0102 | -8 | c.-8- others(25): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
RFX3_chr9_3213297_3531001 | 3504243 | ATATATTT others(1): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG00673.hp2 HG00741.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0014 others(33): Show |
36 | 196 | 0.1837 | -8 | c.-9+ others(25): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
RFX3_chr9_3213297_3531001 | 3524827 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00673.hp2 others(36): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 others(36): Show |
39 | 196 | 0.1990 | -8 | c.-9+ others(21): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
RFX4_chr12_106578004_106767803 | 106687182 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01123.hp2 HG01433.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0002t0006others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0090 a0001c0001t0001g0091 others(19): Show |
22 | 296 | 0.0743 | -8 | c.591 others(23): Show |
RFX4 | ENSG00000111783.13 | transcript | ENST00000392842.6 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RFX5_chr1_151335640_151352252 | 151349498 | AACACACA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00738.hp1 HG02280.hp2 HG03130.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0001 | a0001c0001t0002g0002 a0003c0003t0001g0007 |
3 | 408 | 0.0074 | -8 | c.-24 others(19): Show |
RFX5 | ENSG00000143390.18 | transcript | ENST00000452671.7 | protein_coding | 2247 | chr1 | TogoVar | |||||||
RFX6_chr6_116872242_116937161 | 116908681 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG01258.hp1 HG01516.hp2 HG02572.hp1 others(3): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005 | a0001c0001t0001a0001c0002t0002a0004c0005t0002 | a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0254 others(3): Show |
6 | 372 | 0.0161 | -8 | c.673 others(25): Show |
RFX6 | ENSG00000185002.10 | transcript | ENST00000332958.3 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RFX6_chr6_116872242_116937161 | 116936488 | AAGAGAGA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00673.hp2 others(56): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0012others(4): Show | a0001c0001t0001a0001c0002t0002a0001c0012t0002others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0071 others(54): Show |
59 | 372 | 0.1586 | -8 | c.*49 others(19): Show |
RFX6 | ENSG00000185002.10 | transcript | ENST00000332958.3 | protein_coding | 4328 | chr6 | TogoVar | |||||||
RFX7_chr15_56082280_56248879 | 56103129 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG02040.hp2 HG02071.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0034others(7): Show | a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0268 others(25): Show |
28 | 360 | 0.0778 | -8 | c.518 others(23): Show |
RFX7 | ENSG00000181827.16 | transcript | ENST00000559447.8 | protein_coding | 6/9 | chr15 | TogoVar | |||||||
RFX7_chr15_56082280_56248879 | 56125610 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(104): Show |
a0001a0004a0005 | a0001c0002a0001c0004a0001c0017others(2): Show | a0001c0002t0002a0001c0002t0009a0001c0002t0026others(10): Show | a0001c0002t0002g0040 a0001c0002t0002g0042 a0001c0002t0002g0043 others(104): Show |
107 | 360 | 0.2972 | -8 | c.401 others(27): Show |
RFX7 | ENSG00000181827.16 | transcript | ENST00000559447.8 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
RFX7_chr15_56082280_56248879 | 56178166 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(83): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0030a0001c0001t0045others(11): Show | a0001c0001t0001g0107 a0001c0001t0001g0310 a0001c0001t0001g0311 others(83): Show |
86 | 360 | 0.2389 | -8 | c.195 others(25): Show |
RFX7 | ENSG00000181827.16 | transcript | ENST00000559447.8 | protein_coding | 3/9 | chr15 | TogoVar | |||||||
RFX7_chr15_56082280_56248879 | 56179761 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00639.hp2 others(59): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0002others(9): Show | a0001c0001t0001g0213 a0001c0001t0007g0012 a0001c0001t0007g0014 others(59): Show |
62 | 360 | 0.1722 | -8 | c.162 others(23): Show |
RFX7 | ENSG00000181827.16 | transcript | ENST00000559447.8 | protein_coding | 2/9 | chr15 | TogoVar |