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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AUTS2_chr7_69593475_70798506 | 70639616 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG02622.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0003g0061 a0001c0001t0003g0066 a0001c0001t0004g0051 others(10): Show |
13 | 20 | 0.6500 | 5 | c.691 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70684550 | G | GTGGCA | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02647.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0073 a0001c0001t0002g0062 a0001c0001t0004g0054 others(4): Show |
7 | 76 | 0.0921 | 5 | c.691 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70716636 | C | CAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG01884.hp2 HG01934.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(2): Show | a0001c0001t0002g0045 a0001c0001t0004g0042 a0001c0001t0004g0048 others(3): Show |
6 | 13 | 0.4615 | 5 | c.742 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70731420 | C | CTTTTT | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG01243.hp1 others(4): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(4): Show | a0001c0001t0001g0071 a0001c0001t0002g0045 a0001c0001t0008g0063 others(4): Show |
7 | 32 | 0.2188 | 5 | c.743 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70739003 | C | CTTTTT | intron_variant | MODIFIER | HG01934.hp1 HG03017.hp2 HG03704.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0004a0001c0001t0005a0004c0006t0003 | a0001c0001t0004g0042 a0001c0001t0005g0020 a0001c0001t0005g0028 others(1): Show |
4 | 7 | 0.5714 | 5 | c.743 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70747800 | C | CTTTAT | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00741.hp2 others(35): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0044 others(35): Show |
38 | 73 | 0.5205 | 5 | c.743 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70758910 | G | GCCTAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(58): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 others(58): Show |
61 | 76 | 0.8026 | 5 | c.743 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33891208 | T | TTTATA | intron_variant | MODIFIER | HG01069.hp2 HG01192.hp2 HG02602.hp1 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0002 a0003c0003t0003g0011 a0003c0003t0003g0012 |
3 | 264 | 0.0114 | 5 | c.446 others(24): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33966655 | A | AAGATG | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG01070.hp2 others(77): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 others(77): Show |
80 | 264 | 0.3030 | 5 | c.445 others(24): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33966664 | T | TGAGAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(179): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0012a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0035 others(178): Show |
182 | 264 | 0.6894 | 5 | c.445 others(24): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33968099 | T | TAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01070.hp1 others(21): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(21): Show |
24 | 44 | 0.5455 | 5 | c.445 others(24): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 34001715 | C | CAAGCT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(249): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0012a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 others(248): Show |
252 | 264 | 0.9545 | 5 | c.445 others(22): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 34017484 | G | GTTTTT | intron_variant | MODIFIER | HG02145.hp2 HG02572.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0036 a0001c0001t0001g0099 a0001c0001t0001g0100 others(2): Show |
5 | 87 | 0.0575 | 5 | c.268 others(24): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 34031168 | A | ATTTTT | intron_variant | MODIFIER | HG01978.hp2 HG02970.hp1 HG03453.hp1 others(6): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0010 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0035 a0001c0001t0001g0054 a0001c0001t0001g0089 others(6): Show |
9 | 13 | 0.6923 | 5 | c.267 others(22): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32502392 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp2 others(103): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(35): Show | a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0175 others(103): Show |
106 | 229 | 0.4629 | 5 | c.93+ others(20): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32503560 | G | GAAAAA | intron_variant | MODIFIER | HG02027.hp1 HG02071.hp2 HG02572.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0006 | a0001c0002t0002g0069 a0001c0002t0002g0103 a0001c0002t0002g0105 others(4): Show |
7 | 77 | 0.0909 | 5 | c.93+ others(20): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32557853 | C | CTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00738.hp1 HG01074.hp2 others(34): Show |
a0001a0002 | a0001c0004a0002c0003a0002c0012 | a0001c0004t0015a0001c0004t0025a0001c0004t0034others(16): Show | a0001c0004t0015g0118 a0001c0004t0015g0120 a0001c0004t0015g0122 others(34): Show |
37 | 296 | 0.1250 | 5 | c.610 others(20): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32572801 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp1 HG00642.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(5): Show | a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0003g0220 others(7): Show |
10 | 64 | 0.1563 | 5 | c.135 others(22): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32575089 | T | TTTTTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(180): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(69): Show | a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0001t0001g0051 others(180): Show |
183 | 321 | 0.5701 | 5 | c.157 others(22): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVPI1_chr10_97672424_97692241 | 97672725 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02559.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0101 others(3): Show |
8 | 183 | 0.0437 | 5 | c.*51 others(16): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 4698 | chr10 | TogoVar | |||||||
AVPR1B_chr1_206101936_206122388 | 206122048 | T | TGTGTG | upstream_gene_variant | MODIFIER | HG00558.hp1 HG01175.hp1 NA18612.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0001 a0001c0001t0006g0006 |
4 | 114 | 0.0351 | 5 | c.-51 others(16): Show |
AVPR1B | ENSG00000198049.7 | transcript | ENST00000367126.5 | protein_coding | 4661 | chr1 | TogoVar | |||||||
AWAT2_chrX_70035542_70054938 | 70039755 | T | TAAAAA | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00639.hp1 others(68): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0015 others(5): Show |
71 | 190 | 0.3737 | 5 | c.*19 others(16): Show |
AWAT2 | ENSG00000147160.9 | transcript | ENST00000276101.7 | protein_coding | 786 | chrX | TogoVar | |||||||
AXDND1_chr1_179360971_179559735 | 179455868 | G | GTTTGT | intron_variant | MODIFIER | HG01071.hp2 HG02145.hp2 HG02622.hp2 others(13): Show |
a0003a0006a0010others(2): Show | a0003c0004a0006c0009a0010c0016others(2): Show | a0003c0004t0001a0006c0009t0001a0010c0016t0001others(2): Show | a0003c0004t0001g0173 a0003c0004t0001g0176 a0003c0004t0001g0177 others(13): Show |
16 | 351 | 0.0456 | 5 | c.179 others(26): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179459703 | C | CCTTTT | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01071.hp2 others(12): Show |
a0003a0008a0009others(1): Show | a0003c0004a0008c0012a0009c0013others(1): Show | a0003c0004t0001a0008c0012t0001a0009c0013t0001others(1): Show | a0003c0004t0001g0173 a0003c0004t0001g0176 a0003c0004t0001g0177 others(12): Show |
15 | 354 | 0.0424 | 5 | c.179 others(24): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179479475 | C | CAAAAA | intron_variant | MODIFIER | HG02145.hp2 HG02809.hp2 HG02818.hp2 others(6): Show |
a0006a0010a0024 | a0006c0009a0010c0016a0024c0034 | a0006c0009t0001a0010c0016t0001a0024c0034t0001 | a0006c0009t0001g0175 a0006c0009t0001g0191 a0006c0009t0001g0192 others(6): Show |
9 | 46 | 0.1957 | 5 | c.199 others(24): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179486139 | A | AAAACT | intron_variant | MODIFIER | HG02145.hp2 HG02809.hp2 HG02818.hp2 others(6): Show |
a0006a0010a0024 | a0006c0009a0010c0016a0024c0034 | a0006c0009t0001a0010c0016t0001a0024c0034t0001 | a0006c0009t0001g0175 a0006c0009t0001g0191 a0006c0009t0001g0192 others(6): Show |
9 | 138 | 0.0652 | 5 | c.209 others(24): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179488014 | A | AAAAAG | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02559.hp1 others(11): Show |
a0003a0007a0009 | a0003c0004a0007c0010a0009c0013 | a0003c0004t0001a0007c0010t0001a0009c0013t0001 | a0003c0004t0001g0020 a0003c0004t0001g0021 a0003c0004t0001g0024 others(11): Show |
14 | 318 | 0.0440 | 5 | c.209 others(24): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 341669 | C | CCGGTG | intron_variant | MODIFIER | HG01106.hp1 HG01243.hp2 HG02615.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0004a0001c0003t0026others(2): Show | a0001c0001t0001g0073 a0001c0001t0001g0086 a0001c0001t0001g0087 others(13): Show |
16 | 376 | 0.0426 | 5 | c.878 others(22): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 349104 | A | AAAAAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(117): Show |
a0001a0008a0010others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(17): Show | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0282 others(115): Show |
120 | 373 | 0.3217 | 5 | c.-81 others(22): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 351609 | C | CAAAAA | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02451.hp1 others(8): Show |
a0001 | a0001c0003a0001c0004a0001c0009 | a0001c0003t0003a0001c0003t0041a0001c0003t0045others(2): Show | a0001c0003t0003g0047 a0001c0003t0003g0048 a0001c0003t0003g0049 others(8): Show |
11 | 302 | 0.0364 | 5 | c.-82 others(20): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
AXIN2_chr17_65523563_65566648 | 65538667 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG01891.hp1 HG02145.hp1 others(4): Show |
a0001 | a0001c0002a0001c0003a0001c0005others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0005t0001others(1): Show | a0001c0002t0001g0067 a0001c0002t0001g0080 a0001c0003t0001g0240 others(3): Show |
7 | 23 | 0.3043 | 5 | c.106 others(22): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 4/10 | chr17 | TogoVar | |||||||
AXL_chr19_41214223_41266766 | 41247895 | T | TTTTTA | intron_variant | MODIFIER | HG01109.hp2 HG02486.hp1 HG02896.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0018a0001c0001t0024others(3): Show | a0001c0001t0017g0037 a0001c0001t0017g0098 a0001c0001t0018g0038 others(4): Show |
7 | 152 | 0.0461 | 5 | c.153 others(22): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AXL_chr19_41214223_41266766 | 41260298 | C | CTTTTT | 3_prime_UTR_variant | MODIFIER | HG01081.hp2 HG01169.hp1 HG01192.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0028 | a0001c0001t0022g0093 a0001c0001t0022g0094 a0001c0001t0022g0095 others(4): Show |
7 | 54 | 0.1296 | 5 | c.*42 others(14): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 20/20 | 426 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AZIN2_chr1_33076153_33128492 | 33125733 | C | CCCTTT | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG01891.hp1 others(13): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(3): Show | a0001c0001t0002g0037 a0001c0001t0006g0009 a0001c0001t0006g0018 others(8): Show |
16 | 312 | 0.0513 | 5 | c.*55 others(16): Show |
AZIN2 | ENSG00000142920.18 | transcript | ENST00000294517.11 | protein_coding | 2242 | chr1 | TogoVar | |||||||
B3GALNT1_chr3_161078883_161110349 | 161104927 | T | TGCGGC | intron_variant | MODIFIER | HG01243.hp2 HG01255.hp1 HG01891.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0138 others(1): Show |
11 | 398 | 0.0276 | 5 | c.-30 others(22): Show |
B3GALNT1 | ENSG00000169255.15 | transcript | ENST00000320474.10 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235505693 | G | GTTTTT | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00597.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(7): Show | a0001c0001t0002g0016 a0001c0001t0002g0024 a0001c0001t0002g0036 others(24): Show |
27 | 115 | 0.2348 | 5 | c.-14 others(16): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 1242 | chr1 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167330169 | T | TTTGAG | intron_variant | MODIFIER | HG02258.hp1 HG02922.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0013others(1): Show | a0001c0001t0002g0094 a0001c0001t0011g0092 a0001c0001t0013g0091 others(1): Show |
4 | 115 | 0.0348 | 5 | c.-51 others(26): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167334071 | C | CTATAT | intron_variant | MODIFIER | HG00673.hp1 HG01346.hp1 HG02040.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(5): Show | a0001c0001t0001g0015 a0001c0001t0004g0013 a0001c0001t0004g0014 others(6): Show |
9 | 114 | 0.0789 | 5 | c.-51 others(26): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167387012 | C | CATCAT | intron_variant | MODIFIER | HG03654.hp2 HG03831.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0013 | a0001c0001t0001g0043 a0001c0001t0007g0042 a0001c0001t0013g0056 |
3 | 107 | 0.0280 | 5 | c.-51 others(26): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167408807 | A | AAAAAC | intron_variant | MODIFIER | HG01106.hp1 HG01346.hp2 HG01891.hp2 others(18): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0085 others(18): Show |
21 | 41 | 0.5122 | 5 | c.-51 others(26): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167533997 | G | GTTTGT | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG01255.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0002g0029 others(19): Show |
22 | 116 | 0.1897 | 5 | c.-41 others(26): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167545023 | C | CTTTTT | intron_variant | MODIFIER | HG00738.hp1 HG01891.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0003g0114 a0001c0001t0005g0101 a0001c0001t0007g0100 others(2): Show |
5 | 18 | 0.2778 | 5 | c.-41 others(26): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167563774 | T | TGGGTG | intron_variant | MODIFIER | HG01169.hp2 HG01891.hp2 HG02257.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(4): Show | a0001c0001t0001g0069 a0001c0001t0002g0001 a0001c0001t0002g0010 others(7): Show |
10 | 11 | 0.9091 | 5 | c.-41 others(26): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167579432 | C | CTTTTT | intron_variant | MODIFIER | HG00741.hp1 HG01169.hp2 HG01891.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0002g0001 others(13): Show |
16 | 38 | 0.4211 | 5 | c.-40 others(26): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167601178 | G | GCCTCT | intron_variant | MODIFIER | HG02896.hp1 HG03471.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0032 | a0001c0001t0001g0079 a0001c0001t0005g0051 a0001c0001t0032g0103 |
3 | 116 | 0.0259 | 5 | c.-40 others(26): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167628402 | A | AGTACC | intron_variant | MODIFIER | HG01169.hp2 HG01255.hp1 HG01496.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(11): Show | a0001c0001t0001g0069 a0001c0001t0002g0029 a0001c0001t0002g0070 others(13): Show |
16 | 116 | 0.1379 | 5 | c.-40 others(26): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167703500 | A | ATTATC | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00673.hp1 others(87): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0043 others(87): Show |
90 | 116 | 0.7759 | 5 | c.-35 others(26): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT2_chr1_193173730_193191613 | 193177358 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG00735.hp2 others(23): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0046 others(4): Show |
26 | 155 | 0.1677 | 5 | c.*29 others(16): Show |
B3GALT2 | ENSG00000162630.6 | transcript | ENST00000367434.5 | protein_coding | 1371 | chr1 | TogoVar | |||||||
B3GAT2_chr6_70851679_70962060 | 70898987 | T | TAAATA | intron_variant | MODIFIER | HG02630.hp2 HG02647.hp1 HG02723.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0001t0066a0001c0002t0041 | a0001c0001t0012g0010 a0001c0001t0012g0011 a0001c0001t0066g0143 others(2): Show |
5 | 314 | 0.0159 | 5 | c.592 others(22): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
B3GAT3_chr11_62610296_62626986 | 62619699 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG01168.hp2 HG02559.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(3): Show |
6 | 31 | 0.1935 | 5 | c.257 others(20): Show |
B3GAT3 | ENSG00000149541.10 | transcript | ENST00000265471.10 | protein_coding | 2/4 | chr11 | TogoVar |