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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ULK4_chr3_41241599_41967103 | 41735713 | T | TATTATG | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp1 HG02818.hp2 others(4): Show |
a0004a0010a0020 | a0004c0002a0010c0011a0020c0018 | a0004c0002t0001a0004c0002t0002a0010c0011t0002others(1): Show | a0004c0002t0001g0006 a0004c0002t0002g0007 a0004c0002t0002g0008 others(4): Show |
7 | 70 | 0.1000 | 6 | c.232 others(27): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 22/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41803171 | C | CAAAAAA | intron_variant | MODIFIER | HG01169.hp2 HG01515.hp1 HG02258.hp1 others(8): Show |
a0003a0004a0005others(1): Show | a0003c0003a0003c0016a0004c0002others(2): Show | a0003c0003t0001a0003c0003t0006a0003c0016t0001others(3): Show | a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0061 others(8): Show |
11 | 56 | 0.1964 | 6 | c.184 others(25): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 19/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41817066 | C | CTGTGTG | intron_variant | MODIFIER | HG02145.hp1 HG02976.hp1 |
a0008 | a0008c0010 | a0008c0010t0002 | a0008c0010t0002g0004 a0008c0010t0002g0056 |
2 | 49 | 0.0408 | 6 | c.184 others(25): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 19/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41868482 | G | GGTTTTT | intron_variant | MODIFIER | HG02145.hp1 HG02976.hp1 |
a0008 | a0008c0010 | a0008c0010t0002 | a0008c0010t0002g0004 a0008c0010t0002g0056 |
2 | 70 | 0.0286 | 6 | c.165 others(27): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 17/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41872647 | C | CATTATT | intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG01109.hp2 others(31): Show |
a0002a0003a0004others(8): Show | a0002c0004a0002c0009a0003c0003others(11): Show | a0002c0004t0002a0002c0009t0002a0003c0003t0001others(14): Show | a0002c0004t0002g0014 a0002c0004t0002g0015 a0002c0004t0002g0017 others(31): Show |
34 | 70 | 0.4857 | 6 | c.165 others(27): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 17/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41906216 | C | CAAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp2 HG01071.hp1 others(33): Show |
a0001a0004a0006others(7): Show | a0001c0001a0004c0002a0006c0007others(7): Show | a0001c0001t0001a0001c0001t0003a0004c0002t0002others(8): Show | a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 others(33): Show |
36 | 46 | 0.7826 | 6 | c.118 others(25): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 12/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41931470 | T | TAAATAA | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp2 HG01071.hp1 others(34): Show |
a0001a0004a0005others(8): Show | a0001c0001a0004c0002a0005c0006others(8): Show | a0001c0001t0001a0001c0001t0003a0004c0002t0001others(9): Show | a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 others(34): Show |
37 | 55 | 0.6727 | 6 | c.541 others(21): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 5/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41953283 | C | CACATAT | intron_variant | MODIFIER | HG02451.hp2 HG03209.hp1 |
a0003a0019 | a0003c0003a0019c0017 | a0003c0003t0001a0019c0017t0001 | a0003c0003t0001g0059 a0019c0017t0001g0022 |
2 | 69 | 0.0290 | 6 | c.138 others(23): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 2/36 | chr3 | TogoVar | |||||||
UMAD1_chr7_7635752_7884223 | 7673310 | T | TAGCAGC | start_lost others(1): Show |
HIGH | HG00741.hp2 HG01167.hp1 HG01928.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0016a0001c0001t0023others(1): Show | a0001c0001t0015g0111 a0001c0001t0015g0113 a0001c0001t0015g0137 others(10): Show |
13 | 52 | 0.2500 | 6 | c.-6_ others(11): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/4 | 134/2232 | 1/414 | 1/137 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||
UMAD1_chr7_7635752_7884223 | 7717060 | C | CTTTTTT | intron_variant | MODIFIER | HG01891.hp2 HG02572.hp1 HG02717.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0007a0001c0001t0008a0001c0001t0015others(3): Show | a0001c0001t0007g0041 a0001c0001t0008g0161 a0001c0001t0015g0111 others(4): Show |
7 | 231 | 0.0303 | 6 | c.82+ others(23): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7741578 | A | AAATAAT | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00639.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(14): Show | a0001c0001t0001g0050 a0001c0001t0001g0103 a0001c0001t0001g0187 others(18): Show |
22 | 137 | 0.1606 | 6 | c.83- others(23): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7760412 | A | AAATAAT | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02145.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0018 a0001c0001t0001g0118 a0001c0001t0003g0182 others(10): Show |
13 | 109 | 0.1193 | 6 | c.83- others(23): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7777574 | A | AATATAT | intron_variant | MODIFIER | HG00558.hp1 HG01884.hp2 HG02145.hp2 others(10): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0014a0001c0001t0016others(8): Show | a0001c0001t0002g0046 a0001c0001t0002g0066 a0001c0001t0014g0219 others(10): Show |
13 | 82 | 0.1585 | 6 | c.83- others(23): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7778275 | T | TGTGAGA | intron_variant | MODIFIER | HG01168.hp2 HG01261.hp2 HG01891.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(8): Show | a0001c0001t0002g0109 a0001c0001t0003g0207 a0001c0001t0007g0034 others(9): Show |
12 | 137 | 0.0876 | 6 | c.83- others(23): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7796244 | C | CTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG01243.hp1 HG02622.hp2 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(8): Show | a0001c0001t0001g0061 a0001c0001t0008g0154 a0001c0001t0011g0065 others(8): Show |
11 | 36 | 0.3056 | 6 | c.83- others(21): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7827135 | A | ATGTGTG | intron_variant | MODIFIER | HG01081.hp1 HG01975.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0008a0001c0001t0040others(3): Show | a0001c0001t0005g0038 a0001c0001t0008g0154 a0001c0001t0040g0224 others(3): Show |
6 | 203 | 0.0296 | 6 | c.156 others(25): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7827137 | A | ATGTGTG | intron_variant | MODIFIER | HG01069.hp2 HG01175.hp1 HG01192.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0012a0001c0001t0013others(5): Show | a0001c0001t0006g0043 a0001c0001t0012g0108 a0001c0001t0013g0049 others(7): Show |
10 | 160 | 0.0625 | 6 | c.156 others(25): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7860604 | C | CAAAAAA | intron_variant | MODIFIER | HG01167.hp1 HG01168.hp2 HG01346.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0211 a0001c0001t0003g0206 a0001c0001t0004g0091 others(3): Show |
6 | 106 | 0.0566 | 6 | c.157 others(25): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7864602 | T | TACACAC | intron_variant | MODIFIER | HG01255.hp1 HG03654.hp2 HG03834.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(2): Show | a0001c0001t0001g0055 a0001c0001t0001g0118 a0001c0001t0002g0033 others(4): Show |
7 | 31 | 0.2258 | 6 | c.157 others(25): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7882996 | A | AAGGAGG | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(130): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0031 others(130): Show |
133 | 248 | 0.5363 | 6 | c.*54 others(17): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3774 | chr7 | TogoVar | |||||||
UMODL1_chr21_42066317_42147996 | 42069229 | A | AACACAC | upstream_gene_variant | MODIFIER | HG01496.hp1 HG01891.hp2 HG02109.hp2 others(16): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0020a0002c0002others(11): Show | a0001c0001t0001a0001c0020t0001a0002c0002t0004others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0062 a0001c0001t0001g0220 others(14): Show |
19 | 109 | 0.1743 | 6 | c.-20 others(17): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 2087 | chr21 | TogoVar | |||||||
UMODL1_chr21_42066317_42147996 | 42071883 | C | CAAAAAA | intron_variant | MODIFIER | HG00597.hp1 HG00738.hp1 HG00738.hp2 others(41): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0020a0001c0055others(25): Show | a0001c0001t0001a0001c0020t0001a0001c0055t0004others(27): Show | a0001c0001t0001g0001 a0001c0001t0001g0062 a0001c0001t0001g0063 others(38): Show |
44 | 376 | 0.1170 | 6 | c.76+ others(19): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42119389 | C | CCACCCT | intron_variant | MODIFIER | HG02040.hp1 HG02080.hp1 HG02135.hp1 others(6): Show |
a0004a0005a0012others(4): Show | a0004c0031a0005c0026a0012c0145others(4): Show | a0004c0031t0002a0005c0026t0001a0012c0145t0001others(4): Show | a0004c0031t0002g0354 a0005c0026t0001g0010 a0005c0026t0001g0242 others(5): Show |
9 | 398 | 0.0226 | 6 | c.268 others(21): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42130221 | C | CGTGTGT | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp2 HG00673.hp2 others(41): Show |
a0001a0002a0004others(14): Show | a0001c0001a0001c0055a0002c0002others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(27): Show | a0001c0001t0001g0177 a0001c0001t0003g0009 a0001c0001t0004g0104 others(38): Show |
44 | 229 | 0.1921 | 6 | c.377 others(23): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMODL1_chr21_42066317_42147996 | 42130221 | C | CTTGTGT | intron_variant | MODIFIER | HG00597.hp1 HG01975.hp1 HG02155.hp1 others(3): Show |
a0007a0018a0028others(2): Show | a0007c0006a0018c0021a0028c0050others(2): Show | a0007c0006t0003a0018c0021t0003a0028c0050t0001others(3): Show | a0007c0006t0003g0248 a0018c0021t0003g0210 a0028c0050t0001g0045 others(3): Show |
6 | 191 | 0.0314 | 6 | c.377 others(23): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 21/22 | chr21 | TogoVar | |||||||
UMODL1_chr21_42066317_42147996 | 42130245 | T | TGTGCGC | intron_variant | MODIFIER | HG01884.hp2 HG02622.hp1 HG02647.hp2 others(7): Show |
a0010a0021a0023others(6): Show | a0010c0063a0021c0034a0023c0099others(6): Show | a0010c0063t0001a0021c0034t0001a0023c0099t0001others(6): Show | a0010c0063t0001g0361 a0021c0034t0001g0359 a0021c0034t0001g0378 others(7): Show |
10 | 344 | 0.0291 | 6 | c.377 others(23): Show |
UMODL1 | ENSG00000177398.19 | transcript | ENST00000408910.7 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UMOD_chr16_20328051_20357715 | 20340472 | G | GTATATA | intron_variant | MODIFIER | HG02027.hp2 NA18966.hp2 NA18991.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 a0001c0001t0001g0220 a0001c0001t0001g0221 others(2): Show |
5 | 94 | 0.0532 | 6 | c.157 others(23): Show |
UMOD | ENSG00000169344.16 | transcript | ENST00000396138.9 | protein_coding | 7/10 | chr16 | TogoVar | |||||||
UMOD_chr16_20328051_20357715 | 20345428 | C | CTTTCTT | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp2 HG01071.hp2 others(29): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0006 | a0001c0001t0001a0001c0001t0004a0001c0003t0002others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0078 a0001c0001t0001g0085 others(25): Show |
32 | 325 | 0.0985 | 6 | c.118 others(23): Show |
UMOD | ENSG00000169344.16 | transcript | ENST00000396138.9 | protein_coding | 5/10 | chr16 | TogoVar | |||||||
UMPS_chr3_124725452_124754273 | 124732967 | G | GGTGTGT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00438.hp2 others(69): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0023a0001c0001t0041a0001c0001t0073others(15): Show | a0001c0001t0023g0022 a0001c0001t0041g0022 a0001c0001t0073g0022 others(29): Show |
72 | 137 | 0.5255 | 6 | c.157 others(23): Show |
UMPS | ENSG00000114491.14 | transcript | ENST00000232607.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UMPS_chr3_124725452_124754273 | 124746755 | T | TTGTGTG | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00597.hp1 others(37): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0001c0009others(3): Show | a0001c0001t0003a0001c0001t0017a0001c0001t0019others(10): Show | a0001c0001t0003g0002 a0001c0001t0003g0004 a0001c0001t0003g0007 others(24): Show |
40 | 47 | 0.8511 | 6 | c.*27 others(17): Show |
UMPS | ENSG00000114491.14 | transcript | ENST00000232607.7 | protein_coding | 6/6 | 2714 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
UNC119B_chr12_120705458_120728640 | 120715521 | C | CTTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG02040.hp2 HG02056.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 12 | 18 | 0.6667 | 6 | c.359 others(23): Show |
UNC119B | ENSG00000175970.11 | transcript | ENST00000344651.5 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
UNC119_chr17_28541708_28557624 | 28542122 | C | CATATAT | downstream_gene_variant | MODIFIER | HG00544.hp1 HG01243.hp1 HG01257.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 14 | 141 | 0.0993 | 6 | c.*51 others(17): Show |
UNC119 | ENSG00000109103.12 | transcript | ENST00000335765.9 | protein_coding | 4585 | chr17 | TogoVar | |||||||
UNC119_chr17_28541708_28557624 | 28542238 | T | TACACAC | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG01934.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0003g0004 others(3): Show |
19 | 312 | 0.0609 | 6 | c.*50 others(17): Show |
UNC119 | ENSG00000109103.12 | transcript | ENST00000335765.9 | protein_coding | 4469 | chr17 | TogoVar | |||||||
UNC119_chr17_28541708_28557624 | 28553639 | G | GACACAC | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00609.hp2 others(53): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0006a0002c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(6): Show |
56 | 67 | 0.8358 | 6 | c.-10 others(17): Show |
UNC119 | ENSG00000109103.12 | transcript | ENST00000335765.9 | protein_coding | 1016 | chr17 | TogoVar | |||||||
UNC13A_chr19_17596336_17693354 | 17601050 | C | CAAAAAA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00544.hp2 others(49): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(29): Show | a0001c0001t0003g0203 a0001c0001t0003g0225 a0001c0001t0003g0271 others(49): Show |
52 | 198 | 0.2626 | 6 | c.*50 others(17): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 285 | chr19 | TogoVar | |||||||
UNC13A_chr19_17596336_17693354 | 17653329 | A | AATATAT | intron_variant | MODIFIER | HG00741.hp1 HG01175.hp2 HG01515.hp2 others(17): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0007others(9): Show | a0001c0002t0012a0001c0002t0038a0001c0003t0001others(13): Show | a0001c0002t0012g0077 a0001c0002t0012g0299 a0001c0002t0038g0037 others(17): Show |
20 | 158 | 0.1266 | 6 | c.139 others(23): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 11/43 | chr19 | TogoVar | |||||||
UNC13A_chr19_17596336_17693354 | 17666199 | T | TTCTTTC | intron_variant | MODIFIER | HG02280.hp1 HG02723.hp2 HG02895.hp2 others(5): Show |
a0001 | a0001c0002a0001c0008a0001c0011others(1): Show | a0001c0002t0008a0001c0002t0010a0001c0002t0020others(3): Show | a0001c0002t0008g0027 a0001c0002t0010g0033 a0001c0002t0010g0097 others(5): Show |
8 | 106 | 0.0755 | 6 | c.523 others(21): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 7/43 | chr19 | TogoVar | |||||||
UNC13A_chr19_17596336_17693354 | 17680889 | C | CTTTTTT | intron_variant | MODIFIER | HG00738.hp2 HG02257.hp2 HG02258.hp2 others(16): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(8): Show | a0001c0002t0011a0001c0002t0015a0001c0003t0001others(12): Show | a0001c0002t0011g0064 a0001c0002t0011g0184 a0001c0002t0015g0054 others(16): Show |
19 | 153 | 0.1242 | 6 | c.23- others(21): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 1/43 | chr19 | TogoVar | |||||||
UNC13B_chr9_35157009_35410335 | 35161206 | A | AAATAAT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01074.hp1 others(24): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0007a0002c0003others(11): Show | a0001c0001t0001a0001c0007t0001a0002c0003t0001others(11): Show | a0001c0001t0001g0004 a0001c0001t0001g0112 a0001c0001t0001g0117 others(24): Show |
27 | 103 | 0.2621 | 6 | c.-10 others(17): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 802 | chr9 | TogoVar | |||||||
UNC13B_chr9_35157009_35410335 | 35297547 | C | CTTTTTT | intron_variant | MODIFIER | HG02055.hp1 HG02630.hp2 HG02717.hp1 others(3): Show |
a0007a0023 | a0007c0009a0023c0026 | a0007c0009t0001a0023c0026t0001 | a0007c0009t0001g0129 a0007c0009t0001g0185 a0007c0009t0001g0188 others(3): Show |
6 | 190 | 0.0316 | 6 | c.761 others(23): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 8/39 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UNC13B_chr9_35157009_35410335 | 35409056 | A | AGTGTGT | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00621.hp2 HG00738.hp1 others(26): Show |
a0002a0009a0013others(1): Show | a0002c0003a0002c0004a0002c0010others(3): Show | a0002c0003t0001a0002c0004t0001a0002c0010t0001others(3): Show | a0002c0003t0001g0192 a0002c0003t0001g0193 a0002c0003t0001g0204 others(26): Show |
29 | 42 | 0.6905 | 6 | c.*50 others(17): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 3722 | chr9 | TogoVar | |||||||
UNC13C_chr15_53973441_54633605 | 54038118 | A | ATTTTTT | intron_variant | MODIFIER | HG01169.hp2 HG02922.hp2 HG03225.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0015a0001c0001t0059a0001c0002t0006others(3): Show | a0001c0001t0015g0070 a0001c0001t0059g0147 a0001c0002t0006g0112 others(3): Show |
6 | 140 | 0.0429 | 6 | c.298 others(27): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54038120 | A | ATTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG02602.hp1 NA18954.hp2 others(1): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0012others(1): Show | a0001c0001t0047a0001c0002t0020a0001c0012t0017others(1): Show | a0001c0001t0047g0131 a0001c0002t0020g0020 a0001c0012t0017g0117 others(1): Show |
4 | 109 | 0.0367 | 6 | c.298 others(27): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54077376 | C | CTTTTTT | intron_variant | MODIFIER | HG01169.hp2 HG02615.hp2 HG03225.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0015others(4): Show | a0001c0001t0002g0067 a0001c0001t0011g0150 a0001c0001t0015g0070 others(4): Show |
7 | 62 | 0.1129 | 6 | c.298 others(27): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54117523 | T | TTCTCTC | intron_variant | MODIFIER | HG00735.hp2 HG01515.hp1 HG01884.hp1 others(7): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0056a0001c0002t0013others(7): Show | a0001c0001t0001g0004 a0001c0001t0056g0015 a0001c0002t0013g0014 others(7): Show |
10 | 30 | 0.3333 | 6 | c.298 others(27): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54130308 | T | TTTTTTG | intron_variant | MODIFIER | HG00735.hp2 HG01978.hp1 HG02615.hp1 others(3): Show |
a0001a0002a0010others(1): Show | a0001c0002a0001c0014a0002c0016others(2): Show | a0001c0002t0013a0001c0002t0020a0001c0014t0002others(3): Show | a0001c0002t0013g0014 a0001c0002t0020g0041 a0001c0014t0002g0076 others(3): Show |
6 | 99 | 0.0606 | 6 | c.298 others(27): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 2/32 | chr15 | TogoVar | |||||||
UNC13C_chr15_53973441_54633605 | 54134049 | C | CGTGTGT | intron_variant | MODIFIER | HG01891.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0001a0001c0021 | a0001c0001t0002a0001c0001t0045a0001c0021t0013 | a0001c0001t0002g0144 a0001c0001t0045g0130 a0001c0021t0013g0038 others(1): Show |
4 | 27 | 0.1481 | 6 | c.298 others(25): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54147789 | C | CGTGTGT | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG03139.hp1 others(2): Show |
a0001a0006a0007 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0014a0001c0002t0008a0001c0004t0018others(2): Show | a0001c0001t0014g0083 a0001c0002t0008g0075 a0001c0004t0018g0096 others(2): Show |
5 | 48 | 0.1042 | 6 | c.307 others(25): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54172703 | G | GATATAT | intron_variant | MODIFIER | HG01192.hp1 HG02055.hp1 HG02809.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0016a0001c0001t0017others(4): Show | a0001c0001t0001g0035 a0001c0001t0016g0115 a0001c0001t0017g0136 others(4): Show |
7 | 15 | 0.4667 | 6 | c.307 others(27): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UNC13C_chr15_53973441_54633605 | 54186836 | A | AATATAT | intron_variant | MODIFIER | HG00738.hp1 HG01361.hp1 HG02129.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0006a0001c0002t0009others(3): Show | a0001c0001t0001g0044 a0001c0002t0006g0112 a0001c0002t0009g0133 others(3): Show |
6 | 132 | 0.0455 | 6 | c.307 others(27): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |