| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AUTS2_chr7_69593475_70798506 | 69948773 | CATTTATT others(1): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG03017.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0003t0008 | a0001c0001t0005g0020a0001c0003t0008g0039 | 2 | 76 | 0.0263 | -8 | c.522 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 69978859 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01175.hp1 HG02165.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(2): Show | a0001c0001t0001g0030a0001c0001t0001g0033a0001c0001t0001g0036others(6): Show | 9 | 76 | 0.1184 | -8 | c.522 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 70043547 | CCCTTCCT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00741.hp1 others(16): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0044a0001c0001t0001g0058a0001c0001t0002g0047others(16): Show | 19 | 76 | 0.2500 | -8 | c.523 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 70117104 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01081.hp1 HG01175.hp1 others(11): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0033a0001c0001t0001g0036a0001c0001t0001g0037others(11): Show | 14 | 76 | 0.1842 | -8 | c.523 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 70125245 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01934.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0001a0001c0001t0003a0005c0011t0007 | a0001c0001t0001g0071a0001c0001t0003g0068a0001c0001t0003g0076others(1): Show | 4 | 76 | 0.0526 | -8 | c.624 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 70156891 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01952.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0005a0001c0001t0009a0001c0001t0028others(5): Show | a0001c0001t0005g0005a0001c0001t0005g0012a0001c0001t0005g0015others(10): Show | 13 | 76 | 0.1711 | -8 | c.660 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 70243231 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01175.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(9): Show | a0001c0001t0001g0030a0001c0001t0001g0073a0001c0001t0001g0074others(11): Show | 14 | 76 | 0.1842 | -8 | c.660 others(29): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 70278580 | AACATACA others(1): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG02630.hp2 HG03453.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0020a0001c0003t0008 | a0001c0001t0001g0030a0001c0001t0020g0029a0001c0003t0008g0069 | 3 | 76 | 0.0395 | -8 | c.660 others(29): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 70364566 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01934.hp2 HG03516.hp2 |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0018a0005c0011t0007 | a0001c0001t0018g0003a0005c0011t0007g0004 | 2 | 76 | 0.0263 | -8 | c.661 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 70364610 | TAAATAAA others(1): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG03041.hp1 HG03139.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0005a0001c0005t0030 | a0001c0001t0005g0012a0001c0001t0005g0015a0001c0005t0030g0013 | 3 | 76 | 0.0395 | -8 | c.661 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 70377325 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG03516.hp2 HG03704.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0018a0002c0002t0024 | a0001c0001t0018g0003a0002c0002t0024g0059 | 2 | 76 | 0.0263 | -8 | c.661 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 70525410 | TTGAATGA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00597.hp1 others(34): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(25): Show | a0001c0001t0001g0026a0001c0001t0001g0030a0001c0001t0001g0071others(34): Show | 37 | 76 | 0.4868 | -8 | c.690 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 70534396 | ATTTGTTT others(1): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG02257.hp2 HG02630.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0015others(4): Show | a0001c0001t0001g0044a0001c0001t0006g0010a0001c0001t0015g0001others(4): Show | 7 | 76 | 0.0921 | -8 | c.690 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 70610423 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG01175.hp2 HG01433.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0071a0001c0001t0001g0074a0001c0001t0003g0031others(12): Show | 15 | 76 | 0.1974 | -8 | c.691 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 70729852 | TTGTATGT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG01934.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0058a0001c0001t0002g0045a0001c0001t0002g0052others(5): Show | 8 | 76 | 0.1053 | -8 | c.742 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 70739003 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01081.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0026a0001c0001t0001g0044a0001c0001t0002g0053others(25): Show | 28 | 76 | 0.3684 | -8 | c.743 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 70754793 | TACGGATG others(1): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02630.hp2 HG02886.hp2 |
a0001 | a0001c0003 | a0001c0003t0008a0001c0003t0027 | a0001c0003t0008g0039a0001c0003t0008g0069a0001c0003t0027g0009 | 3 | 76 | 0.0395 | -8 | c.743 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AVEN_chr15_33861227_34044204 | 33868359 | TAAACAAA others(1): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG02258.hp2 HG02572.hp1 others(4): Show |
a0001a0007 | a0001c0001a0007c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0151a0001c0001t0001g0152a0001c0001t0001g0201others(4): Show | 7 | 266 | 0.0263 | -8 | c.613 others(23): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
| AVEN_chr15_33861227_34044204 | 33899460 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(98): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0036others(98): Show | 101 | 266 | 0.3797 | -8 | c.446 others(27): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
| AVEN_chr15_33861227_34044204 | 33905130 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(89): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0012a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0023a0001c0001t0001g0027a0001c0001t0001g0035others(89): Show | 92 | 266 | 0.3459 | -8 | c.446 others(27): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
| AVEN_chr15_33861227_34044204 | 33931349 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02647.hp2 HG02818.hp2 others(4): Show |
a0001a0004a0011 | a0001c0001a0004c0004a0011c0008 | a0001c0001t0001a0001c0001t0004a0004c0004t0001others(1): Show | a0001c0001t0001g0139a0001c0001t0001g0141a0001c0001t0001g0145others(4): Show | 7 | 266 | 0.0263 | -8 | c.446 others(27): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
| AVEN_chr15_33861227_34044204 | 33968099 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG01943.hp1 HG01952.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0118a0001c0001t0001g0208others(3): Show | 6 | 266 | 0.0226 | -8 | c.445 others(27): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
| AVEN_chr15_33861227_34044204 | 33983196 | GTGTGTAT others(1): Show |
G | intron_variant | MODIFIER | HG02071.hp1 NA18747.hp2 NA18986.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0166a0002c0002t0001g0168a0002c0002t0001g0169 | 3 | 266 | 0.0113 | -8 | c.445 others(27): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
| AVEN_chr15_33861227_34044204 | 33983198 | GTGTATAT others(1): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG02015.hp2 others(33): Show |
a0001a0002a0004 | a0001c0001a0001c0012a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0012t0001others(2): Show | a0001c0001t0001g0032a0001c0001t0001g0130a0001c0001t0001g0133others(33): Show | 36 | 266 | 0.1353 | -8 | c.445 others(27): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
| AVEN_chr15_33861227_34044204 | 34008954 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp2 HG02622.hp2 |
a0007 | a0007c0005 | a0007c0005t0007 | a0007c0005t0007g0264a0007c0005t0007g0265a0007c0005t0007g0266 | 3 | 266 | 0.0113 | -8 | c.268 others(25): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
| AVEN_chr15_33861227_34044204 | 34014383 | AACAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG01943.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0012t0001others(1): Show | a0001c0001t0001g0130a0001c0001t0001g0133a0001c0001t0001g0159others(21): Show | 24 | 266 | 0.0902 | -8 | c.268 others(27): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
| AVEN_chr15_33861227_34044204 | 34029517 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01069.hp2 HG01106.hp2 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(2): Show | a0001c0001t0001g0134a0001c0001t0005g0218a0002c0002t0001g0219others(15): Show | 18 | 266 | 0.0677 | -8 | c.267 others(25): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
| AVEN_chr15_33861227_34044204 | 34035792 | TAGTTAGT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(84): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0029others(84): Show | 87 | 266 | 0.3271 | -8 | c.267 others(25): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
| AVL9_chr7_32490489_32593726 | 32540871 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01255.hp1 HG01517.hp1 others(26): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0048a0001c0001t0001g0182a0001c0001t0001g0186others(26): Show | 29 | 330 | 0.0879 | -8 | c.94- others(23): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AVL9_chr7_32490489_32593726 | 32579516 | ATTATATA others(1): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02896.hp1 HG02897.hp1 others(1): Show |
a0003 | a0003c0005 | a0003c0005t0023a0003c0005t0063a0003c0005t0064others(1): Show | a0003c0005t0023g0317a0003c0005t0063g0318a0003c0005t0064g0323others(1): Show | 4 | 330 | 0.0121 | -8 | c.168 others(25): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AVPR1A_chr12_63137759_63156201 | 63138014 | CCTCCCTC others(1): Show |
C | downstream_gene_variant | MODIFIER | HG02559.hp1 HG03098.hp1 NA18985.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0006a0002c0003t0011 | a0001c0001t0006g0061a0002c0003t0011g0039 | 3 | 448 | 0.0067 | -8 | c.*93 others(19): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 4744 | chr12 | TogoVar | ||||||
| AVPR1A_chr12_63137759_63156201 | 63138059 | CTCCTTCC others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG01169.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0002g0002a0001c0001t0002g0029a0001c0001t0002g0054others(7): Show | 23 | 448 | 0.0513 | -8 | c.*92 others(19): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 4699 | chr12 | TogoVar | ||||||
| AVPR1B_chr1_206101936_206122388 | 206118721 | AAAACAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00544.hp1 others(100): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0019a0001c0001t0039others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0108others(44): Show | 103 | 396 | 0.2601 | -8 | c.-18 others(19): Show |
AVPR1B | ENSG00000198049.7 | transcript | ENST00000367126.5 | protein_coding | 1334 | chr1 | TogoVar | ||||||
| AVPR1B_chr1_206101936_206122388 | 206122048 | TTGTGTGT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02647.hp1 HG03041.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0001c0001t0014a0002c0002t0004others(3): Show | a0001c0001t0001g0001a0001c0001t0014g0109a0002c0002t0004g0004others(3): Show | 6 | 396 | 0.0152 | -8 | c.-51 others(19): Show |
AVPR1B | ENSG00000198049.7 | transcript | ENST00000367126.5 | protein_coding | 4661 | chr1 | TogoVar | ||||||
| AXDND1_chr1_179360971_179559735 | 179421035 | CCCTTCCT others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(75): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0003a0001c0015others(11): Show | a0001c0002t0001a0001c0003t0001a0001c0015t0001others(11): Show | a0001c0002t0001g0322a0001c0002t0001g0323a0001c0003t0001g0046others(75): Show | 78 | 356 | 0.2191 | -8 | c.123 others(27): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| AXDND1_chr1_179360971_179559735 | 179482098 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01515.hp2 HG02004.hp1 HG02135.hp2 others(10): Show |
a0001a0002 | a0001c0002a0001c0007a0002c0001 | a0001c0002t0001a0001c0007t0001a0002c0001t0001 | a0001c0002t0001g0081a0001c0002t0001g0082a0001c0002t0001g0116others(10): Show | 13 | 356 | 0.0365 | -8 | c.199 others(27): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| AXDND1_chr1_179360971_179559735 | 179488588 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01433.hp2 HG01496.hp1 others(10): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0298a0004c0005t0001g0299a0004c0005t0001g0300others(10): Show | 13 | 356 | 0.0365 | -8 | c.209 others(27): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| AXDND1_chr1_179360971_179559735 | 179488634 | CCTTTCTT others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG01516.hp2 HG01934.hp1 others(5): Show |
a0001a0003a0006 | a0001c0003a0003c0004a0006c0010 | a0001c0003t0001a0003c0004t0001a0006c0010t0001 | a0001c0003t0001g0069a0001c0003t0001g0078a0001c0003t0001g0265others(5): Show | 8 | 356 | 0.0225 | -8 | c.209 others(27): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| AXDND1_chr1_179360971_179559735 | 179500337 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG02486.hp2 HG02723.hp1 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0103a0001c0006t0001g0162a0001c0006t0001g0163others(1): Show | 4 | 356 | 0.0112 | -8 | c.238 others(27): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 20/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| AXDND1_chr1_179360971_179559735 | 179530646 | TGTTCAAA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp2 others(105): Show |
a0002a0004a0005others(4): Show | a0002c0001a0002c0019a0002c0020others(8): Show | a0002c0001t0001a0002c0019t0001a0002c0020t0001others(8): Show | a0002c0001t0001g0004a0002c0001t0001g0105a0002c0001t0001g0134others(105): Show | 108 | 356 | 0.3034 | -8 | c.271 others(27): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| AXDND1_chr1_179360971_179559735 | 179541655 | ATATGCAT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp2 others(91): Show |
a0002a0005a0016others(3): Show | a0002c0001a0002c0019a0002c0020others(7): Show | a0002c0001t0001a0002c0019t0001a0002c0020t0001others(7): Show | a0002c0001t0001g0004a0002c0001t0001g0105a0002c0001t0001g0134others(91): Show | 94 | 356 | 0.2640 | -8 | c.303 others(27): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 25/25 | chr1 | TogoVar | ||||||
| AXDND1_chr1_179360971_179559735 | 179545561 | CCTGACGG others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02145.hp2 others(20): Show |
a0003a0007a0009others(1): Show | a0003c0004a0007c0009a0009c0013others(1): Show | a0003c0004t0001a0007c0009t0001a0009c0013t0001others(1): Show | a0003c0004t0001g0008a0003c0004t0001g0022a0003c0004t0001g0023others(20): Show | 23 | 356 | 0.0646 | -8 | c.303 others(27): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 25/25 | chr1 | TogoVar | ||||||
| AXIN2_chr17_65523563_65566648 | 65525422 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00544.hp2 others(120): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0003a0001c0004others(10): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(16): Show | a0001c0002t0001g0052a0001c0003t0001g0013a0001c0003t0001g0290others(88): Show | 123 | 402 | 0.3060 | -8 | c.*45 others(19): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 3140 | chr17 | TogoVar | ||||||
| AXIN2_chr17_65523563_65566648 | 65538667 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp2 HG01243.hp2 others(19): Show |
a0001a0002a0006 | a0001c0002a0001c0004a0002c0001others(1): Show | a0001c0002t0001a0001c0004t0002a0001c0004t0003others(4): Show | a0001c0002t0001g0208a0001c0002t0001g0270a0001c0004t0002g0042others(15): Show | 22 | 402 | 0.0547 | -8 | c.106 others(25): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 4/10 | chr17 | TogoVar | ||||||
| AXL_chr19_41214223_41266766 | 41214510 | TTTTGTTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG03098.hp1 HG03098.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0013 | a0001c0001t0009g0141a0001c0001t0009g0142a0001c0001t0009g0143others(1): Show | 4 | 314 | 0.0127 | -8 | c.-48 others(19): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 4712 | chr19 | TogoVar | ||||||
| AXL_chr19_41214223_41266766 | 41235369 | AATAGATA others(1): Show |
A | intron_variant | MODIFIER | HG01928.hp2 HG01952.hp2 HG03471.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0016a0001c0001t0025others(2): Show | a0001c0001t0006g0188a0001c0001t0016g0041a0001c0001t0025g0167others(2): Show | 5 | 314 | 0.0159 | -8 | c.784 others(25): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| AZI2_chr3_28316047_28353824 | 28342711 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02145.hp2 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0011a0001c0001t0001g0017a0001c0001t0001g0027others(9): Show | 21 | 360 | 0.0583 | -8 | c.-5- others(23): Show |
AZI2 | ENSG00000163512.14 | transcript | ENST00000479665.6 | protein_coding | 1/7 | chr3 | TogoVar | ||||||
| AZI2_chr3_28316047_28353824 | 28346572 | ATCAAGGC others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG00735.hp1 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0015 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0024others(17): Show | 59 | 360 | 0.1639 | -8 | c.-6+ others(23): Show |
AZI2 | ENSG00000163512.14 | transcript | ENST00000479665.6 | protein_coding | 1/7 | chr3 | TogoVar | ||||||
| AZIN1_chr8_102821308_102869163 | 102822170 | TCACACAC others(1): Show |
T | downstream_gene_variant | MODIFIER | HG01358.hp1 HG01884.hp2 HG02129.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0009a0001c0001t0001g0118a0001c0001t0002g0012others(9): Show | 13 | 380 | 0.0342 | -8 | c.*63 others(19): Show |
AZIN1 | ENSG00000155096.15 | transcript | ENST00000337198.10 | protein_coding | 4137 | chr8 | TogoVar | ||||||
| AZIN2_chr1_33076153_33128492 | 33082927 | CCAATGAT others(1): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG01934.hp1 HG02055.hp1 others(9): Show |
a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0012a0004c0004t0004g0023a0004c0004t0004g0024others(5): Show | 12 | 322 | 0.0373 | -8 | c.105 others(23): Show |
AZIN2 | ENSG00000142920.18 | transcript | ENST00000294517.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |