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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AHCTF1_chr1_246834098_246936948 | 246892301 | CTTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00558.hp2 others(104): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0010others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(20): Show | a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 others(104): Show |
107 | 168 | 0.6369 | -4 | c.180 others(21): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 14/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246898621 | AACAC | A | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00639.hp2 others(71): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0010a0001c0019others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0001others(11): Show | a0001c0001t0001g0041 a0001c0001t0001g0174 a0001c0001t0001g0175 others(70): Show |
74 | 153 | 0.4837 | -4 | c.149 others(21): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 11/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246899949 | TTAAC | T | intron_variant | MODIFIER | HG02280.hp1 HG03209.hp2 HG03239.hp2 |
a0001a0003a0021 | a0001c0001a0003c0003a0021c0033 | a0001c0001t0001a0003c0003t0001a0021c0033t0001 | a0001c0001t0001g0251 a0003c0003t0001g0278 a0021c0033t0001g0279 |
3 | 370 | 0.0081 | -4 | c.143 others(21): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 10/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246909394 | CAAAA | C | intron_variant | MODIFIER | HG00733.hp2 HG01069.hp1 HG01257.hp1 others(19): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0007a0001c0010others(5): Show | a0001c0001t0001a0001c0007t0001a0001c0010t0001others(6): Show | a0001c0001t0001g0243 a0001c0001t0001g0303 a0001c0001t0001g0310 others(19): Show |
22 | 106 | 0.2075 | -4 | c.557 others(21): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 4/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246915516 | CTCTT | C | intron_variant | MODIFIER | NA18612.hp2 NA18957.hp1 NA18993.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 others(2): Show |
5 | 374 | 0.0134 | -4 | c.375 others(19): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 3/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246918168 | TAAAG | T | intron_variant | MODIFIER | HG00741.hp2 HG01243.hp2 HG01891.hp2 others(5): Show |
a0001a0004 | a0001c0007a0001c0012a0004c0021 | a0001c0007t0001a0001c0012t0002a0004c0021t0006 | a0001c0007t0001g0270 a0001c0007t0001g0271 a0001c0007t0001g0272 others(5): Show |
8 | 374 | 0.0214 | -4 | c.121 others(17): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 2/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246923740 | CGTGT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(104): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0001c0018others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(20): Show | a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 others(104): Show |
107 | 374 | 0.2861 | -4 | c.-7- others(19): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 1/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246933121 | TTTTA | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(202): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0004a0001c0007others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0041 others(201): Show |
205 | 340 | 0.6029 | -4 | c.-15 others(15): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 1174 | chr1 | TogoVar | |||||||
AHCYL2_chr7_129220030_129435211 | 129251317 | ATTTT | A | intron_variant | MODIFIER | HG00735.hp1 HG01074.hp2 HG01099.hp2 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0026 others(42): Show |
45 | 62 | 0.7258 | -4 | c.363 others(23): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129252826 | TGATA | T | intron_variant | MODIFIER | HG01099.hp1 HG02559.hp2 HG02615.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0285 a0001c0001t0007g0286 a0001c0001t0007g0287 others(1): Show |
4 | 290 | 0.0138 | -4 | c.363 others(23): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129261349 | TAGAG | T | intron_variant | MODIFIER | HG01099.hp1 HG02559.hp2 HG02615.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0285 a0001c0001t0007g0286 a0001c0001t0007g0287 others(1): Show |
4 | 290 | 0.0138 | -4 | c.363 others(23): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129275702 | AATAG | A | intron_variant | MODIFIER | HG01167.hp1 HG01891.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018 | a0001c0001t0002g0008 a0001c0001t0018g0283 a0001c0001t0018g0284 |
3 | 290 | 0.0103 | -4 | c.363 others(23): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129277154 | GACAA | G | intron_variant | MODIFIER | HG01099.hp1 HG02559.hp2 HG02615.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0285 a0001c0001t0007g0286 a0001c0001t0007g0287 others(1): Show |
4 | 290 | 0.0138 | -4 | c.363 others(23): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129299369 | GTTTT | G | intron_variant | MODIFIER | HG00738.hp2 HG01081.hp2 HG01993.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0020others(3): Show | a0001c0001t0003g0162 a0001c0001t0004g0166 a0001c0001t0020g0163 others(6): Show |
9 | 19 | 0.4737 | -4 | c.363 others(23): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129304084 | TAAAC | T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01099.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0124 others(23): Show |
26 | 290 | 0.0897 | -4 | c.364 others(23): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129362597 | GTTTT | G | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01243.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0124 others(6): Show |
9 | 127 | 0.0709 | -4 | c.364 others(23): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129402925 | GATTT | G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp2 others(78): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0003g0090 a0001c0001t0003g0135 a0001c0001t0003g0139 others(78): Show |
81 | 290 | 0.2793 | -4 | c.919 others(19): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129424398 | TAATC | T | intron_variant | MODIFIER | HG01106.hp1 HG03491.hp2 HG03669.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0048 a0001c0001t0002g0281 a0001c0001t0004g0144 others(1): Show |
4 | 282 | 0.0142 | -4 | c.156 others(21): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHDC1_chr1_27529245_27609144 | 27560096 | CTGTG | C | intron_variant | MODIFIER | HG02135.hp1 HG02135.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0071 a0001c0002t0001g0124 |
2 | 178 | 0.0112 | -4 | c.-62 others(23): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 3/8 | chr1 | TogoVar | |||||||
AHDC1_chr1_27529245_27609144 | 27560200 | TTGTG | T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01255.hp2 others(6): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0005 a0002c0003t0001g0009 a0002c0003t0001g0062 others(5): Show |
9 | 25 | 0.3600 | -4 | c.-62 others(23): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 3/8 | chr1 | TogoVar | |||||||
AHDC1_chr1_27529245_27609144 | 27574384 | CCTTA | C | intron_variant | MODIFIER | HG01175.hp2 HG01884.hp2 HG01891.hp2 others(22): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0007a0003c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0005others(7): Show | a0001c0001t0001g0008 a0001c0001t0001g0085 a0001c0001t0001g0094 others(22): Show |
25 | 178 | 0.1404 | -4 | c.-62 others(25): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 3/8 | chr1 | TogoVar | |||||||
AHDC1_chr1_27529245_27609144 | 27608841 | CGTGT | C | upstream_gene_variant | MODIFIER | HG01074.hp1 HG01433.hp1 HG02109.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 others(5): Show |
8 | 50 | 0.1600 | -4 | c.-56 others(15): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 4698 | chr1 | TogoVar | |||||||
AHDC1_chr1_27529245_27609144 | 27608902 | GGTGT | G | upstream_gene_variant | MODIFIER | HG03225.hp1 HG03491.hp1 HG03492.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0007t0008 | a0001c0001t0001g0068 a0001c0001t0003g0002 a0001c0007t0008g0163 |
4 | 147 | 0.0272 | -4 | c.-56 others(15): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 4759 | chr1 | TogoVar | |||||||
AHDC1_chr1_27529245_27609144 | 27608950 | ATGTG | A | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01069.hp2 HG01071.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0056 others(2): Show |
7 | 168 | 0.0417 | -4 | c.-57 others(15): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 4807 | chr1 | TogoVar | |||||||
AHDC1_chr1_27529245_27609144 | 27608986 | GGTGT | G | upstream_gene_variant | MODIFIER | HG00323.hp1 HG02004.hp1 HG02071.hp1 others(6): Show |
a0001a0004 | a0001c0001a0004c0010 | a0001c0001t0001a0004c0010t0001 | a0001c0001t0001g0011 a0001c0001t0001g0036 a0001c0001t0001g0040 others(6): Show |
9 | 118 | 0.0763 | -4 | c.-57 others(15): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 4843 | chr1 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135284586 | AAAAT | A | 3_prime_UTR_variant | MODIFIER | HG01074.hp2 HG01099.hp2 HG01496.hp2 others(31): Show |
a0001a0006a0010others(1): Show | a0001c0001a0001c0015a0001c0021others(3): Show | a0001c0001t0003a0001c0001t0012a0001c0001t0017others(5): Show | a0001c0001t0003g0012 a0001c0001t0003g0018 a0001c0001t0003g0029 others(31): Show |
34 | 218 | 0.1560 | -4 | c.*10 others(15): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 29/29 | 1055 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135317396 | TACTC | T | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 |
a0005 | a0005c0009 | a0005c0009t0008 | a0005c0009t0008g0005 a0005c0009t0008g0006 |
2 | 218 | 0.0092 | -4 | c.342 others(23): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 26/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135324551 | CATAT | C | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00609.hp2 others(90): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0010 a0001c0001t0001g0052 a0001c0001t0001g0053 others(90): Show |
93 | 157 | 0.5924 | -4 | c.316 others(23): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135340646 | TATAC | T | intron_variant | MODIFIER | HG01109.hp2 HG01516.hp2 HG02280.hp1 others(11): Show |
a0001a0002a0004 | a0001c0001a0002c0004a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0088 a0001c0001t0001g0103 a0001c0001t0001g0111 others(11): Show |
14 | 218 | 0.0642 | -4 | c.316 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135344926 | TCACA | T | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG03225.hp1 |
a0001a0005 | a0001c0015a0005c0009 | a0001c0015t0010a0005c0009t0008 | a0001c0015t0010g0104 a0005c0009t0008g0005 a0005c0009t0008g0006 |
3 | 74 | 0.0405 | -4 | c.316 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135352712 | TACAC | T | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02559.hp1 others(11): Show |
a0001a0010 | a0001c0001a0001c0021a0010c0017 | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(2): Show | a0001c0001t0002g0042 a0001c0001t0002g0172 a0001c0001t0003g0029 others(11): Show |
14 | 164 | 0.0854 | -4 | c.316 others(23): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135355898 | CAAAA | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02630.hp2 |
a0001 | a0001c0003a0001c0021 | a0001c0003t0004a0001c0021t0010 | a0001c0003t0004g0008 a0001c0003t0004g0009 a0001c0021t0010g0181 |
3 | 218 | 0.0138 | -4 | c.316 others(23): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135355902 | AAAAC | A | intron_variant | MODIFIER | HG01175.hp1 HG01433.hp2 HG01891.hp1 others(7): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0016others(1): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0004others(3): Show | a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0127 others(7): Show |
10 | 201 | 0.0498 | -4 | c.316 others(23): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135358205 | TGTGA | T | intron_variant | MODIFIER | HG01074.hp2 HG01099.hp2 HG01167.hp1 others(20): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 others(20): Show |
23 | 218 | 0.1055 | -4 | c.311 others(19): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135361645 | TCACA | T | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00733.hp1 others(32): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0001c0013others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0058 others(32): Show |
35 | 61 | 0.5738 | -4 | c.311 others(23): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135367916 | TAAAG | T | intron_variant | MODIFIER | HG01496.hp2 HG02145.hp2 HG02559.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0017 | a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 others(2): Show |
5 | 218 | 0.0229 | -4 | c.311 others(23): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135374081 | CATAT | C | intron_variant | MODIFIER | NA19043.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0189 a0001c0001t0005g0193 |
2 | 214 | 0.0093 | -4 | c.311 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135374106 | ATATT | A | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG01071.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0116 a0001c0001t0001g0153 a0001c0001t0001g0154 others(13): Show |
16 | 205 | 0.0780 | -4 | c.311 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135374108 | ATTTT | A | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG00738.hp2 others(26): Show |
a0001a0008 | a0001c0001a0008c0012 | a0001c0001t0001a0001c0001t0002a0008c0012t0001 | a0001c0001t0001g0007 a0001c0001t0001g0101 a0001c0001t0001g0121 others(26): Show |
29 | 183 | 0.1585 | -4 | c.311 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135376881 | CAAAA | C | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp1 HG02647.hp1 others(2): Show |
a0001a0010 | a0001c0001a0010c0017 | a0001c0001t0002a0001c0001t0005a0010c0017t0003 | a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 others(2): Show |
5 | 40 | 0.1250 | -4 | c.310 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135377462 | GTTAT | G | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG02280.hp2 others(10): Show |
a0001a0002a0006 | a0001c0001a0001c0015a0001c0016others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0015others(5): Show | a0001c0001t0003g0179 a0001c0001t0004g0016 a0001c0001t0004g0198 others(10): Show |
13 | 161 | 0.0807 | -4 | c.310 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135379957 | TCTCC | T | intron_variant | MODIFIER | HG01070.hp2 HG03486.hp2 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0006a0001c0016t0002 | a0001c0001t0006g0002 a0001c0016t0002g0180 |
2 | 218 | 0.0092 | -4 | c.310 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135380055 | CTTCT | C | intron_variant | MODIFIER | HG03017.hp2 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 a0001c0001t0002g0200 |
2 | 218 | 0.0092 | -4 | c.310 others(25): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135397720 | GATTA | G | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 |
a0005 | a0005c0009 | a0005c0009t0008 | a0005c0009t0008g0005 a0005c0009t0008g0006 |
2 | 218 | 0.0092 | -4 | c.298 others(23): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 22/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135419795 | TCTTA | T | intron_variant | MODIFIER | HG03486.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0177 a0001c0001t0003g0178 |
2 | 218 | 0.0092 | -4 | c.276 others(23): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 20/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135422619 | TTATG | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00438.hp2 others(93): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0015a0001c0021others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0010 a0001c0001t0001g0052 a0001c0001t0001g0054 others(93): Show |
96 | 137 | 0.7007 | -4 | c.276 others(23): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 20/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135431915 | ATTCT | A | intron_variant | MODIFIER | HG02056.hp1 HG02922.hp2 HG03710.hp2 others(7): Show |
a0001 | a0001c0002a0001c0013a0001c0014 | a0001c0002t0001a0001c0002t0004a0001c0013t0007others(1): Show | a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0002t0001g0025 others(7): Show |
10 | 218 | 0.0459 | -4 | c.226 others(21): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 16/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135487152 | TCTTA | T | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG03017.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0003g0012 others(5): Show |
8 | 218 | 0.0367 | -4 | c.135 others(21): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 5/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135502276 | GTGTA | G | upstream_gene_variant | MODIFIER | NA19043.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0189 a0001c0001t0005g0193 |
2 | 218 | 0.0092 | -4 | c.-48 others(15): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 4537 | chr6 | TogoVar | |||||||
AHNAK2_chr14_104932253_104983374 | 104977069 | CCAGA | C | intron_variant | MODIFIER | HG01071.hp1 HG01081.hp1 NA20905.hp1 |
a0002a0026 | a0002c0003a0026c0128a0026c0129 | a0002c0003t0002a0026c0128t0002a0026c0129t0002 | a0002c0003t0002g0206 a0026c0128t0002g0204 a0026c0129t0002g0205 |
3 | 354 | 0.0085 | -4 | c.55+ others(19): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 1/6 | chr14 | TogoVar |