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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARFGEF1_chr8_67192658_67348781 | 67258818 | T | TACAC | intron_variant | MODIFIER | HG01167.hp1 HG02615.hp2 HG02809.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0004 | a0001c0001t0001g0069 a0001c0001t0001g0148 a0001c0001t0001g0174 others(3): Show |
6 | 106 | 0.0566 | 4 | c.223 others(21): Show |
ARFGEF1 | ENSG00000066777.9 | transcript | ENST00000262215.8 | protein_coding | 15/38 | chr8 | TogoVar | |||||||
ARFGEF1_chr8_67192658_67348781 | 67283758 | T | TAGTC | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG00642.hp1 others(108): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(7): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(108): Show |
111 | 206 | 0.5388 | 4 | c.102 others(23): Show |
ARFGEF1 | ENSG00000066777.9 | transcript | ENST00000262215.8 | protein_coding | 7/38 | chr8 | TogoVar | |||||||
ARFGEF1_chr8_67192658_67348781 | 67329529 | A | AAAAT | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG00741.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0016 others(30): Show |
33 | 195 | 0.1692 | 4 | c.124 others(23): Show |
ARFGEF1 | ENSG00000066777.9 | transcript | ENST00000262215.8 | protein_coding | 1/38 | chr8 | TogoVar | |||||||
ARFGEF2_chr20_48916711_49041693 | 48920820 | C | CCTCA | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00609.hp1 others(134): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0005others(9): Show | a0001c0001t0002g0198 a0001c0002t0001g0122 a0001c0002t0001g0123 others(133): Show |
137 | 350 | 0.3914 | 4 | c.-10 others(15): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 890 | chr20 | TogoVar | |||||||
ARFGEF2_chr20_48916711_49041693 | 48959571 | C | CTCCT | intron_variant | MODIFIER | HG02486.hp2 HG02970.hp2 HG03453.hp2 |
a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0267 a0001c0005t0008g0268 a0001c0005t0008g0276 |
3 | 350 | 0.0086 | 4 | c.839 others(21): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 6/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ARFGEF2_chr20_48916711_49041693 | 48974118 | A | ATTTT | intron_variant | MODIFIER | HG01361.hp1 HG02258.hp2 HG02559.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0219 a0001c0001t0002g0223 a0001c0001t0002g0228 others(4): Show |
7 | 35 | 0.2000 | 4 | c.166 others(21): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 12/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ARFGEF2_chr20_48916711_49041693 | 48997265 | T | TATTG | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00609.hp1 others(122): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(10): Show | a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0011 others(122): Show |
125 | 266 | 0.4699 | 4 | c.322 others(21): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 23/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ARFGEF2_chr20_48916711_49041693 | 49002608 | A | ATTAT | intron_variant | MODIFIER | HG00639.hp1 HG00673.hp2 HG00741.hp1 others(30): Show |
a0001a0003a0004others(1): Show | a0001c0002a0003c0007a0004c0011others(1): Show | a0001c0002t0001a0001c0002t0009a0003c0007t0001others(2): Show | a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 others(30): Show |
33 | 350 | 0.0943 | 4 | c.343 others(23): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 25/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ARFGEF2_chr20_48916711_49041693 | 49012496 | T | TTTTG | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp2 others(243): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0173 a0001c0001t0002g0003 a0001c0001t0002g0008 others(243): Show |
246 | 350 | 0.7029 | 4 | c.391 others(21): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 28/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ARFGEF2_chr20_48916711_49041693 | 49036827 | C | CTTTG | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp2 others(243): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0009 others(243): Show |
246 | 350 | 0.7029 | 4 | c.*36 others(15): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 135 | chr20 | TogoVar | |||||||
ARFGEF3_chr6_138156939_138349663 | 138158818 | C | CTTTT | upstream_gene_variant | MODIFIER | HG01099.hp1 HG01106.hp2 HG02809.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0015 | a0001c0001t0001a0001c0001t0045a0001c0004t0001others(2): Show | a0001c0001t0001g0109 a0001c0001t0045g0123 a0001c0004t0001g0108 others(2): Show |
5 | 23 | 0.2174 | 4 | c.-32 others(15): Show |
ARFGEF3 | ENSG00000112379.9 | transcript | ENST00000251691.5 | protein_coding | 3120 | chr6 | TogoVar | |||||||
ARFGEF3_chr6_138156939_138349663 | 138174469 | T | TAAAA | intron_variant | MODIFIER | HG00597.hp1 HG01109.hp2 NA18942.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0019a0002c0002t0001a0002c0002t0003others(1): Show | a0001c0001t0019g0072 a0002c0002t0001g0018 a0002c0002t0001g0028 others(3): Show |
6 | 22 | 0.2727 | 4 | c.137 others(21): Show |
ARFGEF3 | ENSG00000112379.9 | transcript | ENST00000251691.5 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ARFGEF3_chr6_138156939_138349663 | 138177057 | C | CTTTA | intron_variant | MODIFIER | HG01106.hp2 NA18522.hp2 NA18968.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0009others(3): Show | a0001c0001t0029a0001c0004t0001a0001c0009t0001others(3): Show | a0001c0001t0029g0148 a0001c0004t0001g0108 a0001c0009t0001g0002 others(3): Show |
6 | 166 | 0.0361 | 4 | c.137 others(21): Show |
ARFGEF3 | ENSG00000112379.9 | transcript | ENST00000251691.5 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ARFGEF3_chr6_138156939_138349663 | 138194989 | A | ATTTT | intron_variant | MODIFIER | HG00639.hp1 HG02809.hp2 HG02922.hp2 others(3): Show |
a0001a0002a0005 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0005t0021a0002c0002t0006others(2): Show | a0001c0001t0001g0070 a0001c0005t0021g0005 a0002c0002t0006g0014 others(3): Show |
6 | 68 | 0.0882 | 4 | c.138 others(23): Show |
ARFGEF3 | ENSG00000112379.9 | transcript | ENST00000251691.5 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ARFGEF3_chr6_138156939_138349663 | 138206343 | C | CTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00558.hp1 others(35): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0039a0001c0004t0004others(13): Show | a0001c0001t0001g0087 a0001c0001t0039g0177 a0001c0004t0004g0045 others(35): Show |
38 | 163 | 0.2331 | 4 | c.138 others(19): Show |
ARFGEF3 | ENSG00000112379.9 | transcript | ENST00000251691.5 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ARFGEF3_chr6_138156939_138349663 | 138248821 | G | GAAAT | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp1 |
a0003 | a0003c0010 | a0003c0010t0016a0003c0010t0020 | a0003c0010t0016g0081 a0003c0010t0020g0080 |
2 | 188 | 0.0106 | 4 | c.665 others(21): Show |
ARFGEF3 | ENSG00000112379.9 | transcript | ENST00000251691.5 | protein_coding | 8/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ARFGEF3_chr6_138156939_138349663 | 138270463 | C | CACAT | intron_variant | MODIFIER | HG02027.hp2 HG03834.hp2 |
a0002a0014 | a0002c0028a0014c0023 | a0002c0028t0056a0014c0023t0009 | a0002c0028t0056g0091 a0014c0023t0009g0020 |
2 | 182 | 0.0110 | 4 | c.212 others(23): Show |
ARFGEF3 | ENSG00000112379.9 | transcript | ENST00000251691.5 | protein_coding | 12/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ARFGEF3_chr6_138156939_138349663 | 138272142 | C | CATTT | intron_variant | MODIFIER | HG02027.hp1 HG02615.hp2 NA18944.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0011 | a0001c0001t0001a0002c0003t0002a0002c0011t0046 | a0001c0001t0001g0142 a0002c0003t0002g0030 a0002c0003t0002g0035 others(1): Show |
4 | 75 | 0.0533 | 4 | c.212 others(23): Show |
ARFGEF3 | ENSG00000112379.9 | transcript | ENST00000251691.5 | protein_coding | 12/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ARFGEF3_chr6_138156939_138349663 | 138299198 | T | TAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG02074.hp2 others(24): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0005a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0029others(14): Show | a0001c0001t0001g0142 a0001c0001t0003g0125 a0001c0001t0003g0156 others(24): Show |
27 | 81 | 0.3333 | 4 | c.382 others(21): Show |
ARFGEF3 | ENSG00000112379.9 | transcript | ENST00000251691.5 | protein_coding | 22/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ARFGEF3_chr6_138156939_138349663 | 138316545 | A | ATCTT | intron_variant | MODIFIER | HG02027.hp2 HG02109.hp1 HG02559.hp2 others(5): Show |
a0001a0002a0014 | a0001c0009a0001c0034a0001c0038others(2): Show | a0001c0009t0001a0001c0009t0006a0001c0009t0041others(4): Show | a0001c0009t0001g0002 a0001c0009t0001g0009 a0001c0009t0006g0176 others(5): Show |
8 | 188 | 0.0426 | 4 | c.434 others(21): Show |
ARFGEF3 | ENSG00000112379.9 | transcript | ENST00000251691.5 | protein_coding | 26/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ARFGEF3_chr6_138156939_138349663 | 138321898 | C | CATGT | intron_variant | MODIFIER | HG00423.hp1 HG00741.hp1 HG01106.hp1 others(15): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0034a0001c0001t0039others(14): Show | a0001c0001t0001g0070 a0001c0001t0034g0021 a0001c0001t0039g0177 others(15): Show |
18 | 188 | 0.0957 | 4 | c.476 others(21): Show |
ARFGEF3 | ENSG00000112379.9 | transcript | ENST00000251691.5 | protein_coding | 29/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ARFGEF3_chr6_138156939_138349663 | 138331782 | T | TTTTG | intron_variant | MODIFIER | HG01106.hp1 HG02809.hp2 HG03209.hp1 |
a0005a0008 | a0005c0025a0005c0026a0008c0036 | a0005c0025t0012a0005c0026t0012a0008c0036t0012 | a0005c0025t0012g0074 a0005c0026t0012g0017 a0008c0036t0012g0178 |
3 | 188 | 0.0160 | 4 | c.512 others(23): Show |
ARFGEF3 | ENSG00000112379.9 | transcript | ENST00000251691.5 | protein_coding | 32/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ARFGEF3_chr6_138156939_138349663 | 138337944 | G | GAAAT | 3_prime_UTR_variant | MODIFIER | HG02027.hp2 NA18968.hp1 NA18986.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0028 | a0001c0001t0015a0001c0001t0029a0001c0004t0015others(1): Show | a0001c0001t0015g0173 a0001c0001t0029g0148 a0001c0004t0015g0138 others(1): Show |
4 | 188 | 0.0213 | 4 | c.*14 others(15): Show |
ARFGEF3 | ENSG00000112379.9 | transcript | ENST00000251691.5 | protein_coding | 34/34 | 1465 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ARFGEF3_chr6_138156939_138349663 | 138345452 | T | TATAC | downstream_gene_variant | MODIFIER | HG01109.hp2 HG04184.hp2 |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0019a0002c0007t0025 | a0001c0001t0019g0072 a0002c0007t0025g0088 |
2 | 164 | 0.0122 | 4 | c.*89 others(15): Show |
ARFGEF3 | ENSG00000112379.9 | transcript | ENST00000251691.5 | protein_coding | 790 | chr6 | TogoVar | |||||||
ARFIP1_chr4_152774954_152917357 | 152782223 | G | GGTGT | intron_variant | MODIFIER | HG00558.hp1 HG01167.hp1 HG01169.hp2 others(27): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0002g0190 others(27): Show |
30 | 64 | 0.4688 | 4 | c.-10 others(21): Show |
ARFIP1 | ENSG00000164144.16 | transcript | ENST00000353617.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ARFIP1_chr4_152774954_152917357 | 152790728 | C | CTTTT | intron_variant | MODIFIER | HG02523.hp1 HG02735.hp1 HG03239.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0316 others(10): Show |
13 | 306 | 0.0425 | 4 | c.-10 others(23): Show |
ARFIP1 | ENSG00000164144.16 | transcript | ENST00000353617.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ARFIP1_chr4_152774954_152917357 | 152804211 | A | ATATT | intron_variant | MODIFIER | HG01257.hp2 HG02074.hp2 HG02132.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0199 a0001c0001t0003g0222 a0001c0001t0003g0225 others(10): Show |
13 | 299 | 0.0435 | 4 | c.-10 others(23): Show |
ARFIP1 | ENSG00000164144.16 | transcript | ENST00000353617.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ARFIP1_chr4_152774954_152917357 | 152804241 | A | ATTTT | intron_variant | MODIFIER | HG00733.hp2 HG01081.hp1 HG01257.hp2 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006 | a0001c0001t0002g0180 a0001c0001t0002g0195 a0001c0001t0003g0051 others(49): Show |
52 | 270 | 0.1926 | 4 | c.-10 others(23): Show |
ARFIP1 | ENSG00000164144.16 | transcript | ENST00000353617.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
ARFIP1_chr4_152774954_152917357 | 152808283 | A | ATTTT | intron_variant | MODIFIER | HG01175.hp2 HG02155.hp2 HG02922.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0129 a0001c0001t0001g0342 a0001c0001t0002g0044 others(7): Show |
10 | 14 | 0.7143 | 4 | c.-9- others(21): Show |
ARFIP1 | ENSG00000164144.16 | transcript | ENST00000353617.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ARFIP1_chr4_152774954_152917357 | 152874663 | C | CTGTT | intron_variant | MODIFIER | HG02572.hp1 HG02647.hp2 HG02717.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0046 a0001c0001t0001g0067 a0001c0001t0001g0077 others(4): Show |
7 | 340 | 0.0206 | 4 | c.411 others(21): Show |
ARFIP1 | ENSG00000164144.16 | transcript | ENST00000353617.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ARFIP1_chr4_152774954_152917357 | 152889498 | C | CATAT | intron_variant | MODIFIER | HG01123.hp1 HG01175.hp1 HG01243.hp1 others(36): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0210 a0001c0001t0001g0316 a0001c0001t0001g0321 others(36): Show |
39 | 243 | 0.1605 | 4 | c.966 others(21): Show |
ARFIP1 | ENSG00000164144.16 | transcript | ENST00000353617.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ARFIP1_chr4_152774954_152917357 | 152905545 | G | GTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG01070.hp1 others(28): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(3): Show | a0001c0001t0002g0033 a0001c0001t0002g0048 a0001c0001t0002g0054 others(28): Show |
31 | 130 | 0.2385 | 4 | c.967 others(21): Show |
ARFIP1 | ENSG00000164144.16 | transcript | ENST00000353617.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ARFIP1_chr4_152774954_152917357 | 152907356 | T | TAAAC | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(242): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0046 a0001c0001t0001g0055 a0001c0001t0001g0056 others(242): Show |
245 | 340 | 0.7206 | 4 | c.967 others(21): Show |
ARFIP1 | ENSG00000164144.16 | transcript | ENST00000353617.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ARFIP1_chr4_152774954_152917357 | 152908891 | A | AGTGT | intron_variant | MODIFIER | HG00408.hp2 HG01167.hp2 HG01192.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013a0001c0001t0018 | a0001c0001t0002g0002 a0001c0001t0002g0018 a0001c0001t0002g0019 others(26): Show |
29 | 61 | 0.4754 | 4 | c.967 others(21): Show |
ARFIP1 | ENSG00000164144.16 | transcript | ENST00000353617.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ARFIP1_chr4_152774954_152917357 | 152913672 | C | CATTT | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02886.hp1 HG02976.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 others(3): Show |
6 | 340 | 0.0176 | 4 | c.*34 others(15): Show |
ARFIP1 | ENSG00000164144.16 | transcript | ENST00000353617.7 | protein_coding | 1316 | chr4 | TogoVar | |||||||
ARFRP1_chr20_63693647_63712976 | 63701998 | G | GCCCC | intron_variant | MODIFIER | HG00621.hp1 HG01109.hp1 HG01175.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0019 | a0001c0001t0001g0004 a0001c0001t0001g0025 a0001c0001t0001g0064 others(2): Show |
22 | 36 | 0.6111 | 4 | c.347 others(18): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 5/7 | chr20 | TogoVar | |||||||
ARG1_chr6_131568226_131589329 | 131581099 | T | TATCA | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG02559.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0038 others(4): Show |
16 | 418 | 0.0383 | 4 | c.306 others(19): Show |
ARG1 | ENSG00000118520.16 | transcript | ENST00000368087.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ARG1_chr6_131568226_131589329 | 131584363 | A | AACAC | downstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02622.hp2 others(6): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0085 others(2): Show |
9 | 295 | 0.0305 | 4 | c.*45 others(13): Show |
ARG1 | ENSG00000118520.16 | transcript | ENST00000368087.8 | protein_coding | 35 | chr6 | TogoVar | |||||||
ARG1_chr6_131568226_131589329 | 131584363 | A | AATAC | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0068 others(1): Show |
6 | 292 | 0.0205 | 4 | c.*45 others(13): Show |
ARG1 | ENSG00000118520.16 | transcript | ENST00000368087.8 | protein_coding | 35 | chr6 | TogoVar | |||||||
ARG1_chr6_131568226_131589329 | 131584816 | T | TACAC | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00741.hp2 others(14): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0005t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(6): Show |
17 | 200 | 0.0850 | 4 | c.*90 others(13): Show |
ARG1 | ENSG00000118520.16 | transcript | ENST00000368087.8 | protein_coding | 488 | chr6 | TogoVar | |||||||
ARG2_chr14_67614920_67656708 | 67617717 | G | GTTGT | upstream_gene_variant | MODIFIER | HG00609.hp1 HG02080.hp1 HG03017.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0354 a0001c0001t0001g0360 a0001c0001t0001g0361 others(12): Show |
23 | 436 | 0.0528 | 4 | c.-22 others(15): Show |
ARG2 | ENSG00000081181.8 | transcript | ENST00000261783.4 | protein_coding | 2202 | chr14 | TogoVar | |||||||
ARG2_chr14_67614920_67656708 | 67623534 | C | CTTTT | intron_variant | MODIFIER | HG01496.hp1 HG02109.hp2 HG02572.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0210 a0001c0001t0003g0205 a0001c0001t0003g0209 others(8): Show |
11 | 76 | 0.1447 | 4 | c.184 others(21): Show |
ARG2 | ENSG00000081181.8 | transcript | ENST00000261783.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ARG2_chr14_67614920_67656708 | 67627256 | G | GATAT | intron_variant | MODIFIER | HG00323.hp2 HG01123.hp2 HG01167.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0031 a0001c0001t0001g0103 a0001c0001t0001g0213 others(19): Show |
24 | 57 | 0.4211 | 4 | c.184 others(21): Show |
ARG2 | ENSG00000081181.8 | transcript | ENST00000261783.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ARG2_chr14_67614920_67656708 | 67642793 | C | CTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00621.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0040 a0001c0001t0002g0028 a0001c0001t0002g0041 others(30): Show |
34 | 65 | 0.5231 | 4 | c.362 others(19): Show |
ARG2 | ENSG00000081181.8 | transcript | ENST00000261783.4 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ARG2_chr14_67614920_67656708 | 67643852 | T | TAAAA | intron_variant | MODIFIER | HG01358.hp1 HG02027.hp2 HG02148.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 a0001c0001t0002g0127 a0001c0001t0002g0128 others(3): Show |
7 | 27 | 0.2593 | 4 | c.362 others(21): Show |
ARG2 | ENSG00000081181.8 | transcript | ENST00000261783.4 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ARG2_chr14_67614920_67656708 | 67651654 | A | ACTGT | 3_prime_UTR_variant | MODIFIER | HG02109.hp2 HG02895.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0206 a0001c0001t0006g0207 a0001c0001t0006g0208 |
3 | 436 | 0.0069 | 4 | c.*73 others(13): Show |
ARG2 | ENSG00000081181.8 | transcript | ENST00000261783.4 | protein_coding | 8/8 | 741 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ARGFX_chr3_121562949_121595622 | 121565716 | C | CATAT | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01891.hp2 HG02074.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0002a0001c0001t0005a0005c0005t0006 | a0001c0001t0002g0091 a0001c0001t0005g0121 a0001c0001t0005g0223 others(1): Show |
4 | 232 | 0.0172 | 4 | c.-23 others(15): Show |
ARGFX | ENSG00000186103.5 | transcript | ENST00000334384.5 | protein_coding | 2232 | chr3 | TogoVar | |||||||
ARGFX_chr3_121562949_121595622 | 121565808 | C | CATAT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG02027.hp1 HG02300.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0030 a0001c0001t0001g0229 a0001c0001t0001g0347 others(5): Show |
9 | 215 | 0.0419 | 4 | c.-22 others(15): Show |
ARGFX | ENSG00000186103.5 | transcript | ENST00000334384.5 | protein_coding | 2140 | chr3 | TogoVar | |||||||
ARGFX_chr3_121562949_121595622 | 121576707 | T | TTTTC | intron_variant | MODIFIER | HG01243.hp2 HG01256.hp2 HG01517.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(1): Show | a0001c0001t0001g0235 a0001c0001t0001g0278 a0001c0001t0001g0336 others(3): Show |
6 | 134 | 0.0448 | 4 | c.104 others(17): Show |
ARGFX | ENSG00000186103.5 | transcript | ENST00000334384.5 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ARGFX_chr3_121562949_121595622 | 121577226 | C | CATAT | intron_variant | MODIFIER | HG00544.hp2 HG01517.hp1 HG02083.hp2 others(13): Show |
a0001a0005a0006 | a0001c0001a0005c0009a0006c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(5): Show | a0001c0001t0001g0224 a0001c0001t0001g0250 a0001c0001t0001g0271 others(12): Show |
16 | 360 | 0.0444 | 4 | c.220 others(19): Show |
ARGFX | ENSG00000186103.5 | transcript | ENST00000334384.5 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |