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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NAALADL2_chr3_174854334_175815548 | 175382586 | G | GATTTTAA others(6718): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02055.hp2 others(1): Show |
a0001a0004 | a0001c0001a0001c0013a0004c0002 | a0001c0001t0003a0001c0013t0006a0004c0002t0009others(1): Show | a0001c0001t0003g0015 a0001c0013t0006g0021 a0004c0002t0009g0006 others(1): Show |
4 | 46 | 0.0870 | 6725 | c.109 others(6746): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175382586 | G | GATTTTAA others(6718): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0003 | a0003c0004 | a0003c0004t0032 | a0003c0004t0032g0047 | 1 | 43 | 0.0233 | 6725 | c.109 others(6746): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175382586 | G | GATTTTAA others(6718): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0003 | a0003c0005 | a0003c0005t0028 | a0003c0005t0028g0050 | 1 | 43 | 0.0233 | 6725 | c.109 others(6746): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175382586 | G | GATTTTAA others(6718): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0064 | 1 | 43 | 0.0233 | 6725 | c.109 others(6746): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175382586 | G | GATTTTAA others(6718): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0007 | a0007c0014 | a0007c0014t0004 | a0007c0014t0004g0040 | 1 | 43 | 0.0233 | 6725 | c.109 others(6746): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175382586 | G | GATTTTAA others(6718): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01255.hp1 HG01261.hp2 others(1): Show |
a0003a0005a0006others(1): Show | a0003c0004a0005c0011a0006c0010others(1): Show | a0003c0004t0012a0005c0011t0001a0006c0010t0010others(1): Show | a0003c0004t0012g0058 a0005c0011t0001g0053 a0006c0010t0010g0054 others(1): Show |
4 | 46 | 0.0870 | 6725 | c.109 others(6746): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175382586 | G | GATTTTAA others(6718): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0003 | a0003c0004 | a0003c0004t0029 | a0003c0004t0029g0022 | 1 | 43 | 0.0233 | 6725 | c.109 others(6746): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175382586 | G | GATTTTAA others(6718): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01884.hp1 NA19043.hp2 |
a0003a0005a0007 | a0003c0005a0005c0006a0007c0012 | a0003c0005t0005a0005c0006t0001a0007c0012t0003 | a0003c0005t0005g0009 a0005c0006t0001g0057 a0007c0012t0003g0033 |
3 | 45 | 0.0667 | 6725 | c.109 others(6746): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PRIM2_chr6_57312630_57651850 | 57444882 | T | TGGGGTGG others(6718): Show |
intron_variant | MODIFIER | HG02922.hp2 NA20129.hp1 |
a0002a0003 | a0002c0004a0003c0005 | a0002c0004t0004a0003c0005t0001 | a0002c0004t0004g0005 a0003c0005t0001g0006 |
2 | 297 | 0.0067 | 6725 | c.694 others(6744): Show |
PRIM2 | ENSG00000146143.19 | transcript | ENST00000615550.5 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DDX60_chr4_168211294_168323752 | 168243865 | T | TAACAATA others(6719): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 263 | 0.0038 | 6726 | c.416 others(6745): Show |
DDX60 | ENSG00000137628.18 | transcript | ENST00000393743.8 | protein_coding | 30/37 | chr4 | TogoVar | |||||||
NAALADL2_chr3_174854334_175815548 | 175382586 | G | GATTTTAA others(6719): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0006 | a0006c0009 | a0006c0009t0010 | a0006c0009t0010g0061 | 1 | 43 | 0.0233 | 6726 | c.109 others(6747): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175382586 | G | GATTTTAA others(6719): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0009 | a0009c0016 | a0009c0016t0002 | a0009c0016t0002g0059 | 1 | 43 | 0.0233 | 6726 | c.109 others(6747): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311622 | G | GCACTCAG others(6722): Show |
intron_variant | MODIFIER | NA18950.hp2 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 2 | 276 | 0.0072 | 6729 | c.327 others(6746): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
GRM8_chr7_126433598_127257941 | 126635238 | G | GTATATAA others(6725): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 44 | 0.0227 | 6732 | c.135 others(6753): Show |
GRM8 | ENSG00000179603.19 | transcript | ENST00000339582.7 | protein_coding | 7/10 | chr7 | TogoVar | |||||||
DDX60_chr4_168211294_168323752 | 168243865 | T | TAACAATA others(6726): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 263 | 0.0038 | 6733 | c.416 others(6752): Show |
DDX60 | ENSG00000137628.18 | transcript | ENST00000393743.8 | protein_coding | 30/37 | chr4 | TogoVar | |||||||
UGT8_chr4_114593807_114683225 | 114615862 | T | TAGTGGGC others(6726): Show |
intron_variant | MODIFIER | HG01257.hp2 HG03540.hp1 |
a0001 | a0001c0007 | a0001c0007t0011a0001c0007t0015 | a0001c0007t0011g0254 a0001c0007t0015g0253 |
2 | 273 | 0.0073 | 6733 | c.-2- others(6748): Show |
UGT8 | ENSG00000174607.11 | transcript | ENST00000310836.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1065227 | C | TTGTTATG others(6727): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008 | a0001c0001t0005g0280 a0001c0001t0008g0011 |
2 | 212 | 0.0094 | 6734 | c.118 others(6753): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1065227 | C | TTGTTATG others(6727): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0270 | 1 | 211 | 0.0047 | 6734 | c.118 others(6753): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1065227 | C | TTGTTATG others(6727): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0178 | 1 | 211 | 0.0047 | 6734 | c.118 others(6753): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1065287 | G | GGCTATGC others(6727): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0115 | 1 | 336 | 0.0030 | 6734 | c.118 others(6753): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
UGT8_chr4_114593807_114683225 | 114615862 | T | TAGTGGGC others(6727): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0009 | a0001c0001t0008g0204 a0001c0001t0009g0203 |
2 | 273 | 0.0073 | 6734 | c.-2- others(6749): Show |
UGT8 | ENSG00000174607.11 | transcript | ENST00000310836.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
UGT8_chr4_114593807_114683225 | 114615862 | T | TAGTGGGC others(6727): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0205 a0001c0001t0008g0206 |
2 | 273 | 0.0073 | 6734 | c.-2- others(6749): Show |
UGT8 | ENSG00000174607.11 | transcript | ENST00000310836.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RTEL1_chr20_63653312_63701245 | 63693654 | A | ACCTCCAC others(6737): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 46 | 0.0217 | 6744 | c.299 others(6761): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TNFRSF6B_chr20_63691652_63703684 | 63693654 | A | ACCTCCAC others(6737): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 24 | 0.0417 | 6744 | c.-31 others(6755): Show |
TNFRSF6B | ENSG00000243509.6 | transcript | ENST00000369996.3 | protein_coding | 2997 | chr20 | TogoVar | |||||||
PTK2_chr8_140652900_141006282 | 140995083 | C | CAAAAAAA others(6744): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0086 | 1 | 195 | 0.0051 | 6751 | c.-12 others(6770): Show |
PTK2 | ENSG00000169398.20 | transcript | ENST00000696786.1 | protein_coding | 1/35 | chr8 | TogoVar | |||||||
CDH1_chr16_68732292_68840537 | 68757771 | T | TTCCTTCC others(6746): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308 | 1 | 305 | 0.0033 | 6753 | c.163 others(6772): Show |
CDH1 | ENSG00000039068.20 | transcript | ENST00000261769.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811357 | C | CCCTTCCT others(6746): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0128 | 1 | 17 | 0.0588 | 6753 | c.773 others(6768): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UGT8_chr4_114593807_114683225 | 114615862 | T | TAGTGGGC others(6747): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0255 | 1 | 272 | 0.0037 | 6754 | c.-2- others(6769): Show |
UGT8 | ENSG00000174607.11 | transcript | ENST00000310836.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MUC6_chr11_1007823_1041718 | 1017981 | T | TGTGATGG others(6749): Show |
conservative_inframe_insertion | MODERATE | HG01257.hp2 HG01258.hp2 |
a0002 | a0002c0053 | a0002c0053t0001 | a0002c0053t0001g0215 a0002c0053t0001g0218 |
2 | 3 | 0.6667 | 6756 | c.481 others(6765): Show |
p.Ser others(6771): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 31/33 | 4882/8016 | 4819/7320 | 1607/2439 | chr11 | TogoVar | |||
RTEL1_chr20_63653312_63701245 | 63693747 | A | ACCACCTC others(6749): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0027 | 1 | 56 | 0.0179 | 6756 | c.299 others(6773): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TNFRSF6B_chr20_63691652_63703684 | 63693747 | A | ACCACCTC others(6749): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 32 | 0.0313 | 6756 | c.-30 others(6767): Show |
TNFRSF6B | ENSG00000243509.6 | transcript | ENST00000369996.3 | protein_coding | 2904 | chr20 | TogoVar | |||||||
CDH1_chr16_68732292_68840537 | 68757771 | T | TTCCTTCC others(6750): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0305 | 1 | 305 | 0.0033 | 6757 | c.163 others(6776): Show |
CDH1 | ENSG00000039068.20 | transcript | ENST00000261769.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH1_chr16_68732292_68840537 | 68757771 | T | TTCCTTCC others(6750): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0309 | 1 | 305 | 0.0033 | 6757 | c.163 others(6776): Show |
CDH1 | ENSG00000039068.20 | transcript | ENST00000261769.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH1_chr16_68732292_68840537 | 68757771 | T | TTCCTTCC others(6750): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0312 | 1 | 305 | 0.0033 | 6757 | c.163 others(6776): Show |
CDH1 | ENSG00000039068.20 | transcript | ENST00000261769.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH1_chr16_68732292_68840537 | 68757771 | T | TTCCTTCC others(6751): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0304 | 1 | 305 | 0.0033 | 6758 | c.163 others(6777): Show |
CDH1 | ENSG00000039068.20 | transcript | ENST00000261769.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
P2RX5_chr17_3668227_3701155 | 3687016 | G | GCCCCCAG others(6751): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 305 | 0.0033 | 6758 | c.981 others(6773): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
CDH1_chr16_68732292_68840537 | 68757771 | T | TTCCTTCC others(6752): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0302 | 1 | 305 | 0.0033 | 6759 | c.163 others(6778): Show |
CDH1 | ENSG00000039068.20 | transcript | ENST00000261769.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH1_chr16_68732292_68840537 | 68757771 | T | TTCCTTCC others(6752): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0310 | 1 | 305 | 0.0033 | 6759 | c.163 others(6778): Show |
CDH1 | ENSG00000039068.20 | transcript | ENST00000261769.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH1_chr16_68732292_68840537 | 68757771 | T | TTCCTTCC others(6753): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303 a0001c0001t0001g0313 |
2 | 306 | 0.0065 | 6760 | c.163 others(6779): Show |
CDH1 | ENSG00000039068.20 | transcript | ENST00000261769.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH1_chr16_68732292_68840537 | 68757771 | T | TTCCTTCC others(6753): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0311 | 1 | 305 | 0.0033 | 6760 | c.163 others(6779): Show |
CDH1 | ENSG00000039068.20 | transcript | ENST00000261769.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364477 | C | CCACACTT others(6755): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0128 | 1 | 215 | 0.0047 | 6762 | c.129 others(6779): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168615662 | G | GGGGCCTC others(6755): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0053 | 1 | 162 | 0.0062 | 6762 | c.907 others(6779): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716489 | T | TGGGGGAG others(6757): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0083 | 1 | 161 | 0.0062 | 6764 | c.86- others(6777): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 315147 | G | GACCTGTA others(6760): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0081 | 1 | 84 | 0.0119 | 6767 | c.351 others(6784): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241973 | A | ACACACCC others(6765): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0050 | 1 | 87 | 0.0115 | 6772 | c.107 others(6791): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(6766): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0187 | 1 | 153 | 0.0065 | 6773 | c.179 others(6792): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ORM1_chr9_114318098_114331479 | 114323346 | G | GGCTCTGC others(6767): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 444 | 0.0023 | 6774 | c.114 others(6789): Show |
ORM1 | ENSG00000229314.6 | transcript | ENST00000259396.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ORM1_chr9_114318098_114331479 | 114323346 | G | GGCTCTGC others(6767): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01943.hp1 NA18952.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 15 | 458 | 0.0328 | 6774 | c.114 others(6789): Show |
ORM1 | ENSG00000229314.6 | transcript | ENST00000259396.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ORM1_chr9_114318098_114331479 | 114323346 | G | GGCTCTGC others(6767): Show |
intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 444 | 0.0023 | 6774 | c.114 others(6789): Show |
ORM1 | ENSG00000229314.6 | transcript | ENST00000259396.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ORM1_chr9_114318098_114331479 | 114323346 | G | GGCTCTGC others(6767): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 444 | 0.0023 | 6774 | c.114 others(6789): Show |
ORM1 | ENSG00000229314.6 | transcript | ENST00000259396.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |