view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARRDC2_chr19_18003170_18019102 | 18004581 | CAG | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00673.hp1 others(58): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0005others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0010others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0022others(20): Show | 61 | 414 | 0.1473 | -2 | c.-37 others(13): Show |
ARRDC2 | ENSG00000105643.11 | transcript | ENST00000222250.5 | protein_coding | 3588 | chr19 | TogoVar | |||||||
ARRDC2_chr19_18003170_18019102 | 18011934 | GTA | G | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02109.hp2 others(6): Show |
a0002a0008 | a0002c0003a0008c0010 | a0002c0003t0004a0008c0010t0004 | a0002c0003t0004g0010a0002c0003t0004g0061a0002c0003t0004g0084others(1): Show | 9 | 414 | 0.0217 | -2 | c.117 others(19): Show |
ARRDC2 | ENSG00000105643.11 | transcript | ENST00000222250.5 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARRDC2_chr19_18003170_18019102 | 18014894 | CAG | C | downstream_gene_variant | MODIFIER | HG00558.hp2 HG01167.hp2 NA18970.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0003 | 4 | 414 | 0.0097 | -2 | c.*19 others(13): Show |
ARRDC2 | ENSG00000105643.11 | transcript | ENST00000222250.5 | protein_coding | 793 | chr19 | TogoVar | |||||||
ARRDC2_chr19_18003170_18019102 | 18016212 | GGA | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(315): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0012a0001c0015others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(79): Show | 318 | 414 | 0.7681 | -2 | c.*32 others(13): Show |
ARRDC2 | ENSG00000105643.11 | transcript | ENST00000222250.5 | protein_coding | 2111 | chr19 | TogoVar | |||||||
ARRDC2_chr19_18003170_18019102 | 18016271 | GGA | G | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01071.hp1 others(21): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(6): Show | a0001c0001t0001g0016a0001c0001t0001g0023a0001c0001t0001g0039others(12): Show | 24 | 414 | 0.0580 | -2 | c.*33 others(13): Show |
ARRDC2 | ENSG00000105643.11 | transcript | ENST00000222250.5 | protein_coding | 2170 | chr19 | TogoVar | |||||||
ARRDC3_chr5_91363631_91388317 | 91364350 | CAA | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(124): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0002a0001c0001t0002g0007a0001c0001t0002g0011others(33): Show | 127 | 402 | 0.3159 | -2 | c.*70 others(13): Show |
ARRDC3 | ENSG00000113369.9 | transcript | ENST00000265138.4 | protein_coding | 4280 | chr5 | TogoVar | |||||||
ARRDC3_chr5_91363631_91388317 | 91365455 | CAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(199): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(61): Show | 202 | 402 | 0.5025 | -2 | c.*59 others(13): Show |
ARRDC3 | ENSG00000113369.9 | transcript | ENST00000265138.4 | protein_coding | 3175 | chr5 | TogoVar | |||||||
ARRDC3_chr5_91363631_91388317 | 91366948 | ATT | A | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02280.hp2 HG02486.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0020a0001c0001t0023others(1): Show | a0001c0001t0005g0031a0001c0001t0005g0084a0001c0001t0020g0062others(4): Show | 13 | 402 | 0.0323 | -2 | c.*44 others(13): Show |
ARRDC3 | ENSG00000113369.9 | transcript | ENST00000265138.4 | protein_coding | 1682 | chr5 | TogoVar | |||||||
ARRDC3_chr5_91363631_91388317 | 91377428 | ACT | A | intron_variant | MODIFIER | HG01952.hp2 HG02148.hp1 NA18939.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0009a0001c0001t0006g0022 | 11 | 402 | 0.0274 | -2 | c.363 others(17): Show |
ARRDC3 | ENSG00000113369.9 | transcript | ENST00000265138.4 | protein_coding | 2/7 | chr5 | TogoVar | |||||||
ARRDC4_chr15_97955703_97978833 | 97957443 | CTT | C | upstream_gene_variant | MODIFIER | HG01074.hp1 HG01167.hp2 HG01256.hp1 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0003a0002c0002t0004g0035 | 3 | 422 | 0.0071 | -2 | c.-34 others(13): Show |
ARRDC4 | ENSG00000140450.9 | transcript | ENST00000268042.7 | protein_coding | 3259 | chr15 | TogoVar | |||||||
ARRDC4_chr15_97955703_97978833 | 97964997 | TAC | T | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp1 HG02258.hp2 others(8): Show |
a0002a0003 | a0002c0002a0002c0008a0003c0003 | a0002c0002t0010a0002c0008t0016a0003c0003t0010 | a0002c0002t0010g0025a0002c0002t0010g0031a0002c0002t0010g0063others(2): Show | 11 | 422 | 0.0261 | -2 | c.308 others(17): Show |
ARRDC4 | ENSG00000140450.9 | transcript | ENST00000268042.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ARRDC4_chr15_97955703_97978833 | 97965429 | ACG | A | intron_variant | MODIFIER | NA19005.hp1 NA19011.hp1 NA19056.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 4 | 422 | 0.0095 | -2 | c.308 others(17): Show |
ARRDC4 | ENSG00000140450.9 | transcript | ENST00000268042.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ARRDC4_chr15_97955703_97978833 | 97967460 | CAT | C | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG01884.hp1 others(13): Show |
a0002a0003 | a0002c0009a0002c0012a0003c0006 | a0002c0009t0017a0002c0009t0028a0002c0012t0022others(3): Show | a0002c0009t0017g0030a0002c0009t0028g0030a0002c0012t0022g0124others(6): Show | 16 | 422 | 0.0379 | -2 | c.523 others(17): Show |
ARRDC4 | ENSG00000140450.9 | transcript | ENST00000268042.7 | protein_coding | 3/7 | chr15 | TogoVar | |||||||
ARRDC4_chr15_97955703_97978833 | 97969856 | CTT | C | intron_variant | MODIFIER | HG02055.hp2 HG02056.hp1 HG02132.hp1 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0001a0002c0002t0010a0002c0008t0016others(2): Show | a0001c0001t0001g0043a0001c0001t0001g0046a0001c0001t0001g0069others(8): Show | 18 | 422 | 0.0427 | -2 | c.883 others(15): Show |
ARRDC4 | ENSG00000140450.9 | transcript | ENST00000268042.7 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ARRDC5_chr19_4885437_4907896 | 4886658 | GTC | G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG01081.hp1 HG01884.hp1 others(38): Show |
a0001a0003a0007 | a0001c0001a0001c0004a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0012a0001c0001t0001g0029a0001c0001t0001g0067others(37): Show | 41 | 412 | 0.0995 | -2 | c.*43 others(13): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 3778 | chr19 | TogoVar | |||||||
ARRDC5_chr19_4885437_4907896 | 4887624 | CAA | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG01167.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0323a0001c0001t0001g0348a0001c0001t0002g0042others(20): Show | 24 | 412 | 0.0583 | -2 | c.*34 others(13): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 2812 | chr19 | TogoVar | |||||||
ARRDC5_chr19_4885437_4907896 | 4889930 | CAT | C | downstream_gene_variant | MODIFIER | HG01123.hp1 HG01261.hp1 HG01891.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0343a0001c0001t0001g0344a0001c0001t0001g0345others(5): Show | 8 | 412 | 0.0194 | -2 | c.*11 others(13): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 506 | chr19 | TogoVar | |||||||
ARRDC5_chr19_4885437_4907896 | 4893726 | CAA | C | intron_variant | MODIFIER | HG00280.hp2 HG01106.hp1 HG01168.hp2 others(6): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0002a0003c0005t0002 | a0001c0002t0002g0362a0001c0002t0002g0363a0001c0002t0002g0364others(5): Show | 9 | 412 | 0.0218 | -2 | c.460 others(19): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 2/2 | chr19 | TogoVar | |||||||
ARRDC5_chr19_4885437_4907896 | 4894046 | TAA | T | intron_variant | MODIFIER | HG01257.hp2 HG02280.hp1 HG02572.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0285a0001c0001t0001g0287a0001c0001t0001g0298others(6): Show | 9 | 412 | 0.0218 | -2 | c.460 others(19): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 2/2 | chr19 | TogoVar | |||||||
ARRDC5_chr19_4885437_4907896 | 4894694 | AAG | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00642.hp2 others(36): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0002g0031a0001c0001t0002g0068a0001c0001t0002g0069others(34): Show | 39 | 412 | 0.0947 | -2 | c.459 others(19): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 2/2 | chr19 | TogoVar | |||||||
ARRDC5_chr19_4885437_4907896 | 4896313 | CAA | C | intron_variant | MODIFIER | HG01884.hp1 HG02080.hp1 HG02615.hp1 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0029a0001c0001t0001g0163a0001c0001t0001g0270others(8): Show | 11 | 412 | 0.0267 | -2 | c.459 others(17): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 2/2 | chr19 | TogoVar | |||||||
ARRDC5_chr19_4885437_4907896 | 4896361 | TAC | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00609.hp1 others(55): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0003c0006others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0002others(4): Show | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0032others(53): Show | 58 | 412 | 0.1408 | -2 | c.459 others(17): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 2/2 | chr19 | TogoVar | |||||||
ARRDC5_chr19_4885437_4907896 | 4896405 | CAT | C | intron_variant | MODIFIER | HG01099.hp2 HG01261.hp1 HG02647.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242a0001c0001t0001g0280a0001c0001t0001g0282others(4): Show | 7 | 412 | 0.0170 | -2 | c.459 others(17): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 2/2 | chr19 | TogoVar | |||||||
ARRDC5_chr19_4885437_4907896 | 4900143 | CTT | C | intron_variant | MODIFIER | HG00642.hp2 HG01081.hp1 HG01106.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0156a0001c0001t0001g0157a0001c0001t0001g0158others(28): Show | 32 | 412 | 0.0777 | -2 | c.253 others(19): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 1/2 | chr19 | TogoVar | |||||||
ARRDC5_chr19_4885437_4907896 | 4907704 | CTT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(277): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(270): Show | 280 | 412 | 0.6796 | -2 | c.-48 others(13): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 4809 | chr19 | TogoVar | |||||||
ARSA_chr22_50617754_50633152 | 50621925 | ATT | A | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(71): Show |
a0001a0006a0009others(1): Show | a0001c0001a0006c0008a0009c0011others(1): Show | a0001c0001t0003a0001c0001t0014a0001c0001t0017others(6): Show | a0001c0001t0003g0003a0001c0001t0003g0007a0001c0001t0003g0059others(10): Show | 74 | 460 | 0.1609 | -2 | c.*32 others(13): Show |
ARSA | ENSG00000100299.18 | transcript | ENST00000216124.10 | protein_coding | 828 | chr22 | TogoVar | |||||||
ARSA_chr22_50617754_50633152 | 50628204 | CGG | C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(59): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0005others(2): Show | a0001c0001t0003a0001c0001t0014a0001c0001t0057others(6): Show | a0001c0001t0003g0003a0001c0001t0003g0007a0001c0001t0003g0059others(10): Show | 62 | 460 | 0.1348 | -2 | c.-42 others(11): Show |
ARSA | ENSG00000100299.18 | transcript | ENST00000216124.10 | protein_coding | 53 | chr22 | TogoVar | |||||||
ARSA_chr22_50617754_50633152 | 50628884 | GGT | G | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02970.hp2 HG03471.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0012a0002c0002t0008 | a0001c0001t0012g0070a0002c0002t0008g0035 | 3 | 460 | 0.0065 | -2 | c.-11 others(13): Show |
ARSA | ENSG00000100299.18 | transcript | ENST00000216124.10 | protein_coding | 733 | chr22 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78784988 | CAG | C | intron_variant | MODIFIER | HG01433.hp1 HG01993.hp1 HG02071.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0008a0001c0003t0002 | a0001c0001t0008g0065a0001c0001t0008g0113a0001c0001t0008g0131others(1): Show | 4 | 360 | 0.0111 | -2 | c.121 others(21): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 6/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78812592 | AAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00733.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(3): Show | a0001c0001t0002a0001c0001t0007a0001c0003t0002others(8): Show | a0001c0001t0002g0261a0001c0001t0007g0115a0001c0003t0002g0013others(15): Show | 18 | 360 | 0.0500 | -2 | c.121 others(23): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 6/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78818598 | CTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(177): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(74): Show | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0027others(176): Show | 180 | 360 | 0.5000 | -2 | c.121 others(23): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 6/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78834607 | GTA | G | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG00642.hp1 others(51): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0263a0001c0001t0001g0305a0001c0001t0001g0315others(50): Show | 54 | 360 | 0.1500 | -2 | c.121 others(21): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 6/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78863911 | CAT | C | intron_variant | MODIFIER | HG00544.hp2 HG00733.hp1 HG01069.hp1 others(29): Show |
a0001a0007 | a0001c0003a0001c0021a0007c0012 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(14): Show | a0001c0003t0001g0047a0001c0003t0001g0048a0001c0003t0001g0049others(29): Show | 32 | 360 | 0.0889 | -2 | c.114 others(23): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78882775 | ATT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(175): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(60): Show | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0027others(175): Show | 178 | 360 | 0.4944 | -2 | c.114 others(21): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78884775 | CAA | C | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02572.hp1 others(10): Show |
a0001 | a0001c0003a0001c0005a0001c0008 | a0001c0003t0006a0001c0003t0007a0001c0003t0008others(8): Show | a0001c0003t0006g0156a0001c0003t0006g0267a0001c0003t0006g0274others(10): Show | 13 | 360 | 0.0361 | -2 | c.114 others(19): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78890247 | TTA | T | intron_variant | MODIFIER | HG03017.hp1 NA18961.hp2 NA18984.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0018 | a0001c0001t0001g0134a0001c0001t0004g0328a0002c0002t0018g0308 | 3 | 360 | 0.0083 | -2 | c.899 others(19): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78892248 | CTT | C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00621.hp2 others(56): Show |
a0001a0005a0006 | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0245a0001c0001t0001g0263a0001c0001t0001g0265others(56): Show | 59 | 360 | 0.1639 | -2 | c.899 others(19): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78904685 | CTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(287): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(106): Show | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0027others(287): Show | 290 | 360 | 0.8056 | -2 | c.899 others(21): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78921393 | CAT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp1 others(28): Show |
a0001a0003 | a0001c0001a0003c0004a0003c0014 | a0001c0001t0002a0001c0001t0005a0003c0004t0001others(15): Show | a0001c0001t0002g0039a0001c0001t0005g0038a0003c0004t0001g0001others(27): Show | 31 | 360 | 0.0861 | -2 | c.898 others(21): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78928305 | CTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(95): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0135a0001c0001t0001g0315a0001c0001t0001g0321others(94): Show | 98 | 360 | 0.2722 | -2 | c.898 others(21): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78929792 | CAA | C | intron_variant | MODIFIER | HG01261.hp2 HG01943.hp1 HG01975.hp1 others(38): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0135a0001c0001t0001g0245a0001c0001t0001g0263others(38): Show | 41 | 360 | 0.1139 | -2 | c.898 others(21): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78937323 | GAT | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(153): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0027others(153): Show | 156 | 360 | 0.4333 | -2 | c.898 others(21): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78939282 | CTT | C | intron_variant | MODIFIER | HG00621.hp2 HG00741.hp1 HG01243.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0002g0200a0001c0001t0003g0327a0001c0001t0004g0330others(18): Show | 21 | 360 | 0.0583 | -2 | c.898 others(21): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78965291 | AAT | A | intron_variant | MODIFIER | HG00544.hp2 HG00733.hp1 HG00741.hp1 others(97): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0245a0001c0001t0001g0263a0001c0001t0001g0265others(97): Show | 100 | 360 | 0.2778 | -2 | c.500 others(17): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 2/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78972516 | TAC | T | intron_variant | MODIFIER | HG00438.hp1 HG02698.hp2 NA18946.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(1): Show | a0001c0001t0002g0143a0001c0001t0003g0214a0001c0001t0013g0170others(1): Show | 4 | 360 | 0.0111 | -2 | c.313 others(19): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 1/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78976278 | CTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(95): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0144a0001c0001t0001g0245a0001c0001t0001g0315others(95): Show | 98 | 360 | 0.2722 | -2 | c.313 others(19): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 1/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78977185 | GCT | G | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0012a0001c0003t0022a0001c0005t0017 | a0001c0003t0012g0166a0001c0003t0012g0177a0001c0003t0022g0178others(1): Show | 4 | 360 | 0.0111 | -2 | c.312 others(19): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 1/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78978335 | TAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(226): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(98): Show | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0027others(225): Show | 229 | 360 | 0.6361 | -2 | c.312 others(19): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 1/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78988176 | CTA | C | upstream_gene_variant | MODIFIER | HG01106.hp2 HG01243.hp1 HG02451.hp1 others(14): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(13): Show | a0001c0001t0001g0087a0001c0001t0002g0277a0001c0001t0007g0250others(14): Show | 17 | 360 | 0.0472 | -2 | c.-29 others(13): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 2867 | chr5 | TogoVar | |||||||
ARSD_chrX_2898972_2934339 | 2902786 | CAG | C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00558.hp1 others(97): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(11): Show | a0001c0001t0013a0001c0001t0019a0001c0001t0031others(30): Show | a0001c0001t0013g0167a0001c0001t0013g0208a0001c0001t0013g0221others(84): Show | 100 | 344 | 0.2907 | -2 | c.*44 others(13): Show |
ARSD | ENSG00000006756.16 | transcript | ENST00000381154.6 | protein_coding | 1185 | chrX | TogoVar |