| geneid | 653308 |
|---|---|
| ensemblid | ENSG00000204147.11 |
| hgncid | 23456 |
| symbol | ASAH2B |
| name | N-acylsphingosine amidohydrolase 2B |
| refseq_nuc | NM_001321958.2 |
| refseq_prot | NP_001308887.1 |
| ensembl_nuc | ENST00000647317.2 |
| ensembl_prot | ENSP00000496089.1 |
| mane_status | MANE Select |
| chr | chr10 |
| start | 50739936 |
| end | 50759255 |
| strand | + |
| ver | v1.2 |
| region | chr10:50739936-50759255 |
| region5000 | chr10:50734936-50764255 |
| regionname0 | ASAH2B_chr10_50739936_50759255 |
| regionname5000 | ASAH2B_chr10_50734936_50764255 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr10:50743009
|
C | T | 0.0024 | splice_region_variant | LOW | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0073 | a0001c0001t0073g0001 | 1 | 414 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 2/6 | c.-5C>T | ||||||
|
chr10:50745132
|
T | C | 0.8382 | start_lost | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(344): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(135): Show | 347 | 414 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 3/6 | c.2T>C | p.Met1? | 149/5145 | 2/483 | 1/160 | ||
|
chr10:50754645
|
T | C | 0.0024 | missense_variant | MODERATE | HG02615.hp2 | a0001 | a0001c0004 | a0001c0004t0081 | a0001c0004t0081g0054 | 1 | 414 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 6/6 | c.388T>C | p.Tyr130His | 535/5145 | 388/483 | 130/160 | ||
|
chr10:50754658
|
A | G | 0.0048 | missense_variant | MODERATE | NA18979.hp1 NA18980.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0002 | 2 | 414 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 6/6 | c.401A>G | p.Asn134Ser | 548/5145 | 401/483 | 134/160 |
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr10:50754891
|
GGTGTGT | G | 0.0145 | 3_prime_UTR_variant | MODIFIER | HG00642.hp2 HG01243.hp2 HG02280.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0029a0001c0001t0061a0002c0002t0028others(1): Show | a0001c0001t0029g0078a0001c0001t0029g0080a0001c0001t0061g0003others(2): Show | 6 | 414 | -6 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 6/6 | c.*192_*197delGTGTGT | 192 | INFO_REALIGN_3_PRIME | ||||
|
chr10:50756225
|
C | A | 0.8261 | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(339): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(129): Show | 342 | 414 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 6/6 | c.*1485C>A | 1485 | |||||
|
chr10:50757099
|
G | T | 0.8696 | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(357): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(68): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(145): Show | 360 | 414 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 6/6 | c.*2359G>T | 2359 |
| chr:pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr10:50740145
|
G | A | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00621.hp1 others(39): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0006a0001c0001t0056others(4): Show | a0001c0001t0005g0003a0001c0001t0005g0026a0001c0001t0005g0027others(11): Show | 42 | 414 | 0.1015 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 1/5 | c.-100+162G>A | ||||||
|
chr10:50740772
|
T | C | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00621.hp1 others(40): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0001t0006a0001c0001t0055others(5): Show | a0001c0001t0005g0003a0001c0001t0005g0026a0001c0001t0005g0027others(12): Show | 43 | 414 | 0.1039 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 1/5 | c.-100+789T>C | ||||||
|
chr10:50742654
|
G | A | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00621.hp1 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0056others(3): Show | a0001c0001t0005g0003a0001c0001t0005g0026a0001c0001t0005g0027others(10): Show | 41 | 414 | 0.0990 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 1/5 | c.-99-261G>A | ||||||
|
chr10:50743028
|
G | A | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00621.hp1 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0055others(4): Show | a0001c0001t0005g0003a0001c0001t0005g0026a0001c0001t0005g0027others(11): Show | 42 | 414 | 0.1015 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 2/5 | c.-4+18G>A | ||||||
|
chr10:50743043
|
C | CGT | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00621.hp1 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0055others(4): Show | a0001c0001t0005g0003a0001c0001t0005g0026a0001c0001t0005g0027others(11): Show | 42 | 414 | 0.1015 | 2 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 2/5 | c.-4+48_-4+49dupGT | INFO_REALIGN_3_PRIME | |||||
|
chr10:50743249
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(336): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(128): Show | 339 | 414 | 0.8188 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 2/5 | c.-4+239G>A | ||||||
|
chr10:50743380
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(355): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(67): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(144): Show | 358 | 414 | 0.8647 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 2/5 | c.-4+370T>C | ||||||
|
chr10:50743958
|
A | ATTAG | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(329): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(124): Show | 332 | 414 | 0.8019 | 4 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 2/5 | c.-4+951_-4+952insGTTA | INFO_REALIGN_3_PRIME | |||||
|
chr10:50744494
|
A | G | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00621.hp1 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0026others(5): Show | a0001c0001t0005g0003a0001c0001t0005g0026a0001c0001t0005g0027others(12): Show | 44 | 414 | 0.1063 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 2/5 | c.-3-634A>G | ||||||
|
chr10:50744644
|
G | C | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00621.hp1 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0055others(4): Show | a0001c0001t0005g0003a0001c0001t0005g0026a0001c0001t0005g0027others(11): Show | 42 | 414 | 0.1015 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 2/5 | c.-3-484G>C | ||||||
|
chr10:50744996
|
T | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(323): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(118): Show | 326 | 414 | 0.7874 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 2/5 | c.-3-132T>G | ||||||
|
chr10:50745804
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(334): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(127): Show | 337 | 414 | 0.8140 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 3/5 | c.144+530T>C | ||||||
|
chr10:50745818
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(329): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(124): Show | 332 | 414 | 0.8019 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 3/5 | c.144+544T>C | ||||||
|
chr10:50745944
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(329): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(124): Show | 332 | 414 | 0.8019 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 3/5 | c.144+670C>T | ||||||
|
chr10:50746032
|
C | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(321): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(116): Show | 324 | 414 | 0.7826 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 3/5 | c.144+758C>A | ||||||
|
chr10:50746606
|
T | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(323): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(118): Show | 326 | 414 | 0.7874 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 3/5 | c.144+1332T>A | ||||||
|
chr10:50747099
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(344): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(135): Show | 347 | 414 | 0.8382 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 3/5 | c.144+1825A>G | ||||||
|
chr10:50747636
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(342): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(134): Show | 345 | 414 | 0.8333 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 3/5 | c.145-1707G>A | ||||||
|
chr10:50748261
|
T | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(329): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(124): Show | 332 | 414 | 0.8019 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 3/5 | c.145-1082T>G | ||||||
|
chr10:50748417
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(338): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(129): Show | 341 | 414 | 0.8237 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 3/5 | c.145-926C>T | ||||||
|
chr10:50748756
|
C | T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(186): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(26): Show | a0001c0001t0002g0002a0001c0001t0002g0011a0001c0001t0002g0013others(68): Show | 189 | 414 | 0.4565 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 3/5 | c.145-587C>T | ||||||
|
chr10:50749306
|
G | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(329): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(124): Show | 332 | 414 | 0.8019 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 3/5 | c.145-37G>T | ||||||
|
chr10:50750792
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(322): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(117): Show | 325 | 414 | 0.7850 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 4/5 | c.204+1390A>G | ||||||
|
chr10:50751552
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(256): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(101): Show | 259 | 414 | 0.6256 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 4/5 | c.205-916G>A | ||||||
|
chr10:50752858
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(201): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(40): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(82): Show | 204 | 414 | 0.4928 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 5/5 | c.293+302G>A | ||||||
|
chr10:50753017
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(338): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(129): Show | 341 | 414 | 0.8237 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 5/5 | c.293+461G>A | ||||||
|
chr10:50753078
|
C | T | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00621.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0026others(8): Show | a0001c0001t0005g0003a0001c0001t0005g0026a0001c0001t0005g0027others(16): Show | 48 | 414 | 0.1159 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 5/5 | c.293+522C>T | ||||||
|
chr10:50753079
|
A | G | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(207): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(42): Show | a0001c0001t0002g0002a0001c0001t0002g0011a0001c0001t0002g0013others(85): Show | 210 | 414 | 0.5073 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 5/5 | c.293+523A>G | ||||||
|
chr10:50753121
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(261): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(105): Show | 264 | 414 | 0.6377 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 5/5 | c.293+565C>T | ||||||
|
chr10:50753140
|
A | G | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00621.hp1 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0055others(4): Show | a0001c0001t0005g0003a0001c0001t0005g0026a0001c0001t0005g0027others(11): Show | 42 | 414 | 0.1015 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 5/5 | c.293+584A>G | ||||||
|
chr10:50753671
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(361): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(70): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(148): Show | 364 | 414 | 0.8792 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 5/5 | c.294-880A>G | ||||||
|
chr10:50753987
|
T | G | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00621.hp1 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0056others(3): Show | a0001c0001t0005g0003a0001c0001t0005g0026a0001c0001t0005g0027others(10): Show | 41 | 414 | 0.0990 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 5/5 | c.294-564T>G | ||||||
|
chr10:50754166
|
C | CAT | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00621.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0095a0001c0001t0002g0107a0001c0001t0005g0003others(14): Show | 45 | 414 | 0.1087 | 2 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 5/5 | c.294-373_294-372dupTA | INFO_REALIGN_3_PRIME | |||||
|
chr10:50754336
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(260): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(60): Show | a0001c0001t0001g0010a0001c0001t0001g0023a0001c0001t0001g0105others(114): Show | 263 | 414 | 0.6353 | 0 | ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 5/5 | c.294-215G>A |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ASAH2B | 0/1 | a0001 | 20 | 347 | 49 | 61 | 194 | 10 | 32 | subcellular location copy fasta | chr10 | 50734936 | 50764255 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
chapid | clen | total | AFR | AMR | EAS | EUR | SAS | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ASAH2B | 0/1 | c0001 | 483 | 344 | 48 | 61 | 192 | 10 | 32 | copy fasta | chr10 | 50734936 | 50764255 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ASAH2B | 0/0 | t0061 | 4657 | 1 | 1 | 0 | 0 | 0 | 0 | copy fasta | chr10 | 50734936 | 50764255 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ASAH2B | 0/0 | g0003 | 31 | 7 | 1 | 19 | 0 | 4 | chr10 | 50734936 | 50764255 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ASAH2B | 0/1 | a0001c0001 | 344 | 48 | 61 | 192 | 10 | 32 | 483 | copy fasta | chr10 | 50734936 | 50764255 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ASAH2B | 0/0 | a0001c0001t0061 | 1 | 1 | 0 | 0 | 0 | 0 | 5139 | copy fasta | chr10 | 50734936 | 50764255 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
actghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ASAH2B | 0/0 | a0001c0001t0061g0003 | 1 | 1 | 0 | 0 | 0 | 0 | chr10 | 50734936 | 50764255 |
Click to load Haplotype QTL data...
| pos | S. Strand |
E# Exon Number |
max | median | min | diff | type | haplotypeid | max_hap_list | min_hap_list | symbol | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 50739983 | + | 1 | -0.6487 | -0.6487 | -0.6487 | 0.0000 | acceptor | a0001c0001t0061g0003 | HG02280.hp1 | HG02280.hp1 | ASAH2B | chr10 | 50734936 | 50764255 |
| 50742915 | + | 2 | 0.8829 | 0.8829 | 0.8829 | 0.0000 | donor | a0001c0001t0061g0003 | HG02280.hp1 | HG02280.hp1 | ASAH2B | chr10 | 50734936 | 50764255 |
| 50743010 | + | 2 | -0.9419 | -0.9419 | -0.9419 | 0.0000 | acceptor | a0001c0001t0061g0003 | HG02280.hp1 | HG02280.hp1 | ASAH2B | chr10 | 50734936 | 50764255 |
| 50745128 | + | 3 | 0.6701 | 0.6701 | 0.6701 | 0.0000 | donor | a0001c0001t0061g0003 | HG02280.hp1 | HG02280.hp1 | ASAH2B | chr10 | 50734936 | 50764255 |
| 50745274 | + | 3 | -0.7600 | -0.7600 | -0.7600 | 0.0000 | acceptor | a0001c0001t0061g0003 | HG02280.hp1 | HG02280.hp1 | ASAH2B | chr10 | 50734936 | 50764255 |
| 50749343 | + | 4 | 0.9902 | 0.9902 | 0.9902 | 0.0000 | donor | a0001c0001t0061g0003 | HG02280.hp1 | HG02280.hp1 | ASAH2B | chr10 | 50734936 | 50764255 |
| 50749402 | + | 4 | -0.9853 | -0.9853 | -0.9853 | 0.0000 | acceptor | a0001c0001t0061g0003 | HG02280.hp1 | HG02280.hp1 | ASAH2B | chr10 | 50734936 | 50764255 |
| 50752468 | + | 5 | 0.9942 | 0.9941 | 0.9942 | 0.0000 | donor | a0001c0001t0061g0003 | HG02280.hp1 | HG02280.hp1 | ASAH2B | chr10 | 50734936 | 50764255 |
| 50752556 | + | 5 | -0.9905 | -0.9905 | -0.9905 | 0.0000 | acceptor | a0001c0001t0061g0003 | HG02280.hp1 | HG02280.hp1 | ASAH2B | chr10 | 50734936 | 50764255 |
| 50754551 | + | 6 | 0.9667 | 0.9667 | 0.9667 | 0.0000 | donor | a0001c0001t0061g0003 | HG02280.hp1 | HG02280.hp1 | ASAH2B | chr10 | 50734936 | 50764255 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
|
thapid thapid_count
|
ghapid ghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|