| geneid | 116988 |
|---|---|
| ensemblid | ENSG00000133612.20 |
| hgncid | 16923 |
| symbol | AGAP3 |
| name | ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 |
| refseq_nuc | NM_031946.7 |
| refseq_prot | NP_114152.3 |
| ensembl_nuc | ENST00000397238.7 |
| ensembl_prot | ENSP00000380413.2 |
| mane_status | MANE Select |
| chr | chr7 |
| start | 151086475 |
| end | 151144434 |
| strand | + |
| ver | v1.2 |
| region | chr7:151086475-151144434 |
| region5000 | chr7:151081475-151149434 |
| regionname0 | AGAP3_chr7_151086475_151144434 |
| regionname5000 | AGAP3_chr7_151081475_151149434 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr7:151086812
|
G | GT | 0.0254 | frameshift_variant | HIGH | HG01884.hp2 HG01891.hp1 HG02280.hp1 others(6): Show |
a0001 | a0001c0002a0001c0020 | a0001c0002t0002a0001c0020t0002 | a0001c0002t0002g0310a0001c0002t0002g0311a0001c0002t0002g0312others(6): Show | 9 | 354 | 1 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | c.71_72insT | p.Ala25fs | 339/3494 | 72/2736 | 24/911 | ||
|
chr7:151086813
|
C | CG | 0.9718 | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(341): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(332): Show | 344 | 354 | 1 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | c.73dupG | p.Ala25fs | 341/3494 | 74/2736 | 25/911 | INFO_REALIGN_3_PRIME | |
|
chr7:151086821
|
C | CG | 0.9972 | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 1 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | c.81dupG | p.Gln28fs | 349/3494 | 82/2736 | 28/911 | INFO_REALIGN_3_PRIME | |
|
chr7:151086824
|
A | G | 0.9972 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | c.83A>G | p.Gln28Arg | 350/3494 | 83/2736 | 28/911 | ||
|
chr7:151086830
|
T | G | 0.9972 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | c.89T>G | p.Leu30Arg | 356/3494 | 89/2736 | 30/911 | ||
|
chr7:151086831
|
C | CG | 0.9972 | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 1 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | c.91dupG | p.Val31fs | 359/3494 | 92/2736 | 31/911 | INFO_REALIGN_3_PRIME | |
|
chr7:151086833
|
T | G | 0.9972 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | c.92T>G | p.Val31Gly | 359/3494 | 92/2736 | 31/911 | ||
|
chr7:151086835
|
T | G | 0.9972 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | c.94T>G | p.Cys32Gly | 361/3494 | 94/2736 | 32/911 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr7:151086816
|
T | G | 0.9972 | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | c.75T>G | p.Ala25Ala | 342/3494 | 75/2736 | 25/911 | ||
|
chr7:151086819
|
C | G | 0.9972 | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | c.78C>G | p.Ala26Ala | 345/3494 | 78/2736 | 26/911 | ||
|
chr7:151086834
|
C | G | 0.9972 | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | c.93C>G | p.Val31Val | 360/3494 | 93/2736 | 31/911 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr7:151086669
|
TGCCGCC | T | 0.2542 | 5_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00558.hp2 others(87): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0002g0001a0001c0001t0002g0005a0001c0001t0002g0010others(84): Show | 90 | 354 | -6 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | c.-54_-49delGCCGCC | 49 | INFO_REALIGN_3_PRIME |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr7:151088666
|
C | T | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG00738.hp2 others(48): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0006a0001c0002t0002others(5): Show | a0001c0001t0002g0178a0001c0001t0002g0293a0001c0001t0002g0294others(48): Show | 51 | 354 | 0.1441 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+1594C>T | ||||||
|
chr7:151088974
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(128): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(124): Show | 131 | 354 | 0.3701 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+1902C>T | ||||||
|
chr7:151090310
|
A | G | intron_variant | MODIFIER | HG01081.hp2 HG01884.hp2 HG01891.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0002a0001c0002t0002a0001c0007t0002others(1): Show | a0001c0001t0002g0178a0001c0001t0002g0313a0001c0001t0002g0322others(12): Show | 15 | 354 | 0.0424 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+3238A>G | ||||||
|
chr7:151090380
|
CTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(96): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0004a0001c0001t0001g0015a0001c0001t0001g0018others(92): Show | 99 | 354 | 0.2797 | -3 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+3331_331+3333delTTT | INFO_REALIGN_3_PRIME | |||||
|
chr7:151090652
|
C | T | intron_variant | MODIFIER | HG01081.hp2 HG02970.hp1 NA19030.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0001 | a0001c0001t0002g0322a0001c0001t0002g0323a0001c0004t0001g0013others(2): Show | 5 | 354 | 0.0141 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+3580C>T | ||||||
|
chr7:151090743
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(312): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(303): Show | 315 | 354 | 0.8898 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+3671A>G | ||||||
|
chr7:151091217
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(319): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(310): Show | 322 | 354 | 0.9096 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+4145T>C | ||||||
|
chr7:151092704
|
C | G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(74): Show |
a0001a0005a0006 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0004a0001c0001t0001g0026a0001c0001t0001g0116others(70): Show | 77 | 354 | 0.2175 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+5632C>G | ||||||
|
chr7:151094165
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(297): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(288): Show | 300 | 354 | 0.8475 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+7093C>T | ||||||
|
chr7:151094228
|
T | TGAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(174): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(169): Show | 177 | 354 | 0.5000 | 4 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+7158_331+7161dupAAAG | INFO_REALIGN_3_PRIME | |||||
|
chr7:151094592
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(326): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(317): Show | 329 | 354 | 0.9294 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+7520T>C | ||||||
|
chr7:151095184
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(300): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(291): Show | 303 | 354 | 0.8559 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+8112G>A | ||||||
|
chr7:151095450
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(300): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(291): Show | 303 | 354 | 0.8559 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+8378C>T | ||||||
|
chr7:151095701
|
CAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(209): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(204): Show | 212 | 354 | 0.5989 | -2 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+8654_331+8655delAA | INFO_REALIGN_3_PRIME | |||||
|
chr7:151097391
|
C | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(303): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(294): Show | 306 | 354 | 0.8644 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+10319C>G | ||||||
|
chr7:151097517
|
C | CA | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp1 HG02109.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0282a0001c0001t0002g0297a0001c0001t0002g0298others(4): Show | 7 | 354 | 0.0198 | 1 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+10463dupA | INFO_REALIGN_3_PRIME | |||||
|
chr7:151097639
|
G | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(316): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(307): Show | 319 | 354 | 0.9011 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+10567G>C | ||||||
|
chr7:151098522
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(299): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(290): Show | 302 | 354 | 0.8531 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+11450G>A | ||||||
|
chr7:151098982
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(299): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(290): Show | 302 | 354 | 0.8531 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+11910C>T | ||||||
|
chr7:151098983
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(325): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(316): Show | 328 | 354 | 0.9266 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+11911A>G | ||||||
|
chr7:151099113
|
G | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(181): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(176): Show | 184 | 354 | 0.5198 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+12041G>C | ||||||
|
chr7:151099342
|
CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(194): Show |
a0001a0006a0008 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(186): Show | 197 | 354 | 0.5565 | -1 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+12287delA | INFO_REALIGN_3_PRIME | |||||
|
chr7:151099432
|
TG | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(296): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(287): Show | 299 | 354 | 0.8446 | -1 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+12361delG | ||||||
|
chr7:151099819
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(78): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(74): Show | 81 | 354 | 0.2288 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+12747T>C | ||||||
|
chr7:151099840
|
T | A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(78): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(74): Show | 81 | 354 | 0.2288 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+12768T>A | ||||||
|
chr7:151099859
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(296): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(287): Show | 299 | 354 | 0.8446 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+12787T>C | ||||||
|
chr7:151100002
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(296): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(287): Show | 299 | 354 | 0.8446 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+12930T>C | ||||||
|
chr7:151100165
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(325): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(316): Show | 328 | 354 | 0.9266 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+13093T>C | ||||||
|
chr7:151101564
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(325): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(316): Show | 328 | 354 | 0.9266 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+14492C>T | ||||||
|
chr7:151101639
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(302): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(293): Show | 305 | 354 | 0.8616 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+14567T>C | ||||||
|
chr7:151101893
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(174): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(169): Show | 177 | 354 | 0.5000 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+14821G>A | ||||||
|
chr7:151102598
|
CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(72): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(68): Show | 75 | 354 | 0.2119 | -1 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-14178delA | INFO_REALIGN_3_PRIME | |||||
|
chr7:151103652
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(298): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(289): Show | 301 | 354 | 0.8503 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-13141A>G | ||||||
|
chr7:151103736
|
G | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(296): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(287): Show | 299 | 354 | 0.8446 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-13057G>T | ||||||
|
chr7:151104005
|
C | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(325): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(316): Show | 328 | 354 | 0.9266 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-12788C>G | ||||||
|
chr7:151104151
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(75): Show |
a0001a0005a0006 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(71): Show | 78 | 354 | 0.2203 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-12642A>G | ||||||
|
chr7:151104253
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(306): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(297): Show | 309 | 354 | 0.8729 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-12540T>C | ||||||
|
chr7:151104333
|
C | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(303): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(294): Show | 306 | 354 | 0.8644 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-12460C>A | ||||||
|
chr7:151105869
|
C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(153): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0017others(149): Show | 156 | 354 | 0.4407 | 1 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-10910dupT | INFO_REALIGN_3_PRIME | |||||
|
chr7:151106462
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(292): Show |
a0001a0004a0007others(1): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(284): Show | 295 | 354 | 0.8333 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-10331A>G | ||||||
|
chr7:151106678
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(325): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(316): Show | 328 | 354 | 0.9266 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-10115C>T | ||||||
|
chr7:151107317
|
A | AG | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00597.hp1 others(48): Show |
a0001 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0107others(45): Show | 51 | 354 | 0.1441 | 1 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-9476_332-9475insG | ||||||
|
chr7:151107628
|
A | T | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00597.hp1 others(53): Show |
a0001 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(49): Show | 56 | 354 | 0.1582 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-9165A>T | ||||||
|
chr7:151108050
|
A | G | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00597.hp1 others(48): Show |
a0001 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0107others(45): Show | 51 | 354 | 0.1441 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-8743A>G | ||||||
|
chr7:151108185
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(289): Show |
a0001a0004a0007others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(281): Show | 292 | 354 | 0.8249 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-8608A>G | ||||||
|
chr7:151110885
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(313): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(304): Show | 316 | 354 | 0.8927 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-5908A>G | ||||||
|
chr7:151111191
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(326): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(317): Show | 329 | 354 | 0.9294 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-5602A>G | ||||||
|
chr7:151111662
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(344): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(335): Show | 347 | 354 | 0.9802 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-5131C>T | ||||||
|
chr7:151112396
|
CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG01081.hp2 others(30): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0020others(29): Show | 33 | 354 | 0.0932 | -12 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-4368_332-4357delGTGTGTGTGTGT | INFO_REALIGN_3_PRIME | |||||
|
chr7:151115406
|
G | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(310): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(301): Show | 313 | 354 | 0.8842 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-1387G>C | ||||||
|
chr7:151115565
|
G | A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(30): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0026a0001c0001t0001g0112a0001c0001t0001g0113others(27): Show | 33 | 354 | 0.0932 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-1228G>A | ||||||
|
chr7:151115652
|
G | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(156): Show |
a0001a0006a0008 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0007others(149): Show | 159 | 354 | 0.4492 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-1141G>C | ||||||
|
chr7:151115700
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(159): Show |
a0001a0006a0008 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0007others(152): Show | 162 | 354 | 0.4576 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-1093A>G | ||||||
|
chr7:151116271
|
C | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(141): Show |
a0001a0006a0008 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0007others(134): Show | 144 | 354 | 0.4068 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-522C>G | ||||||
|
chr7:151117587
|
A | G | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0322 | 1 | 354 | 0.0028 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 4/17 | c.565-49A>G | ||||||
|
chr7:151119341
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(92): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0004a0001c0001t0001g0051a0001c0001t0001g0078others(88): Show | 95 | 354 | 0.2684 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 7/17 | c.970-646C>T | ||||||
|
chr7:151119346
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(89): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0004a0001c0001t0001g0051a0001c0001t0001g0078others(85): Show | 92 | 354 | 0.2599 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 7/17 | c.970-641C>T | ||||||
|
chr7:151119426
|
C | T | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(63): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0051a0001c0001t0001g0097a0001c0001t0001g0112others(60): Show | 66 | 354 | 0.1864 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 7/17 | c.970-561C>T | ||||||
|
chr7:151119983
|
T | G | splice_region_variant others(1): Show |
LOW | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0322 | 1 | 354 | 0.0028 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 7/17 | c.970-4T>G | ||||||
|
chr7:151121119
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(83): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0004a0001c0001t0001g0078a0001c0001t0001g0083others(79): Show | 86 | 354 | 0.2429 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 8/17 | c.1128+974A>G | ||||||
|
chr7:151121579
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG01257.hp1 others(35): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0078a0001c0001t0001g0083others(34): Show | 38 | 354 | 0.1073 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 8/17 | c.1128+1434C>T | ||||||
|
chr7:151122504
|
C | CCCG | intron_variant | MODIFIER | HG00140.hp1 HG01257.hp1 HG01258.hp1 others(37): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0078a0001c0001t0001g0101others(36): Show | 40 | 354 | 0.1130 | 3 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 8/17 | c.1129-1275_1129-1273dupGCC | INFO_REALIGN_3_PRIME | |||||
|
chr7:151124920
|
G | A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(53): Show |
a0001 | a0001c0001a0001c0018 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0056others(50): Show | 56 | 354 | 0.1582 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 9/17 | c.1221+1034G>A | ||||||
|
chr7:151125572
|
G | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(346): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(337): Show | 349 | 354 | 0.9859 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 9/17 | c.1221+1686G>C | ||||||
|
chr7:151126055
|
TGGGTG | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(326): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(317): Show | 329 | 354 | 0.9294 | -5 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 9/17 | c.1221+2178_1221+2182delTGGGG | INFO_REALIGN_3_PRIME | |||||
|
chr7:151126202
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(110): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0017others(109): Show | 113 | 354 | 0.3192 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 9/17 | c.1221+2316C>T | ||||||
|
chr7:151126356
|
GGAGCA | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(316): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(307): Show | 319 | 354 | 0.9011 | -5 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 9/17 | c.1222-2214_1222-2210delAGAGC | INFO_REALIGN_3_PRIME | |||||
|
chr7:151126422
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(159): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0015others(154): Show | 162 | 354 | 0.4576 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 9/17 | c.1222-2158G>A | ||||||
|
chr7:151127155
|
G | A | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0322 | 1 | 354 | 0.0028 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 9/17 | c.1222-1425G>A | ||||||
|
chr7:151127784
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(116): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0017others(115): Show | 119 | 354 | 0.3362 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 9/17 | c.1222-796C>T | ||||||
|
chr7:151128000
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(260): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(255): Show | 263 | 354 | 0.7429 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 9/17 | c.1222-580G>A | ||||||
|
chr7:151128480
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(259): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(254): Show | 262 | 354 | 0.7401 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 9/17 | c.1222-100C>T | ||||||
|
chr7:151128957
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(306): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(297): Show | 309 | 354 | 0.8729 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 10/17 | c.1326+273G>A | ||||||
|
chr7:151129231
|
C | T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(100): Show |
a0001a0008 | a0001c0001a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(97): Show | 103 | 354 | 0.2910 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 10/17 | c.1326+547C>T | ||||||
|
chr7:151129468
|
A | G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(109): Show |
a0001a0008 | a0001c0001a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(105): Show | 112 | 354 | 0.3164 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 10/17 | c.1326+784A>G | ||||||
|
chr7:151130120
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(326): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(317): Show | 329 | 354 | 0.9294 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 10/17 | c.1326+1436A>G | ||||||
|
chr7:151132134
|
G | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(297): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(288): Show | 300 | 354 | 0.8475 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 10/17 | c.1327-2266G>C | ||||||
|
chr7:151132371
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(319): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(310): Show | 322 | 354 | 0.9096 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 10/17 | c.1327-2029A>G | ||||||
|
chr7:151132928
|
A | G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00423.hp1 others(159): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(152): Show | 162 | 354 | 0.4576 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 10/17 | c.1327-1472A>G | ||||||
|
chr7:151133254
|
G | A | intron_variant | MODIFIER | HG01255.hp1 HG02145.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0214a0001c0001t0001g0263a0001c0001t0002g0322 | 3 | 354 | 0.0085 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 10/17 | c.1327-1146G>A | ||||||
|
chr7:151135826
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(314): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(305): Show | 317 | 354 | 0.8955 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 11/17 | c.1495+1258A>G | ||||||
|
chr7:151135906
|
A | C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(68): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0025others(64): Show | 71 | 354 | 0.2006 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 11/17 | c.1495+1338A>C |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AGAP3 | 0/1 | a0001 | 912 | 347 | 93 | 64 | 137 | 15 | 37 | subcellular location copy fasta | chr7 | 151081475 | 151149434 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AGAP3 | 0/1 | c0001 | 2739 | 316 | 68 | 61 | 135 | 15 | 36 | copy fasta | chr7 | 151081475 | 151149434 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AGAP3 | 0/1 | t0002 | 753 | 79 | 31 | 13 | 22 | 2 | 10 | copy fasta | chr7 | 151081475 | 151149434 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AGAP3 | 0/1 | g0322 | 1 | 0 | 0 | 0 | 0 | 0 | chr7 | 151081475 | 151149434 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AGAP3 | 0/1 | a0001c0001 | 316 | 68 | 61 | 135 | 15 | 36 | 2739 | copy fasta | chr7 | 151081475 | 151149434 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AGAP3 | 0/1 | a0001c0001t0002 | 67 | 19 | 13 | 22 | 2 | 10 | 3491 | copy fasta | chr7 | 151081475 | 151149434 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AGAP3 | 0/1 | a0001c0001t0002g0322 | 1 | 0 | 0 | 0 | 0 | 0 | chr7 | 151081475 | 151149434 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 151087072 | + | 1 | -0.9412 | -0.9412 | -0.9412 | 0.0000 | acceptor | a0001c0001t0002g0322 | homoSapiens_chm13v2.hp1 | homoSapiens_chm13v2.hp1 |
