| 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
|
TGCC | T | 0.7034 | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(246): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(240): Show | 249 | 354 | -3 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | c.-51_-49delGCC | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr7:151090380
|
CT | C | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(112): Show |
a0001a0008 | a0001c0001a0001c0011a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(108): Show | 115 | 354 | 0.3249 | -1 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+3333delT | INFO_REALIGN_3_PRIME | |||||
|
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 | ||||||
|
chr7:151090801
|
G | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(117): Show |
a0001a0008 | a0001c0001a0001c0011a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(113): Show | 120 | 354 | 0.3390 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+3729G>A | ||||||
|
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 | ||||||
|
chr7:151093949
|
A | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(119): Show |
a0001a0008 | a0001c0001a0001c0011a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(115): Show | 122 | 354 | 0.3446 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+6877A>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 | ||||||
|
chr7:151094592
|
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 | ||||||
|
chr7:151097639
|
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 | ||||||
|
chr7:151098529
|
T | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(116): Show |
a0001a0008 | a0001c0001a0001c0011a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(112): Show | 119 | 354 | 0.3362 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+11457T>G | ||||||
|
chr7:151098733
|
CT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(126): Show |
a0001a0008 | a0001c0001a0001c0011a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(122): Show | 129 | 354 | 0.3644 | -1 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+11680delT | INFO_REALIGN_3_PRIME | |||||
|
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 | ||||||
|
chr7:151099342
|
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 | ||||||
|
chr7:151099859
|
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 | ||||||
|
chr7:151100494
|
G | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(116): Show |
a0001a0008 | a0001c0001a0001c0011a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(112): Show | 119 | 354 | 0.3362 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+13422G>A | ||||||
|
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 | ||||||
|
chr7:151101986
|
G | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(119): Show |
a0001a0008 | a0001c0001a0001c0011a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(115): Show | 122 | 354 | 0.3446 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-14807G>A | ||||||
|
chr7:151102292
|
T | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(116): Show |
a0001a0008 | a0001c0001a0001c0011a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(112): Show | 119 | 354 | 0.3362 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-14501T>C | ||||||
|
chr7:151102598
|
C | CA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(121): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(117): Show | 124 | 354 | 0.3503 | 1 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-14178dupA | INFO_REALIGN_3_PRIME | |||||
|
chr7:151103398
|
G | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(116): Show |
a0001a0008 | a0001c0001a0001c0011a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(112): Show | 119 | 354 | 0.3362 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-13395G>A | ||||||
|
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 | ||||||
|
chr7:151104253
|
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 | ||||||
|
chr7:151105792
|
C | CCACACAC others(7): Show |
intron_variant | MODIFIER | NA18970.hp2 NA19056.hp1 NA19090.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0187a0001c0001t0001g0223a0001c0001t0001g0224others(1): Show | 4 | 354 | 0.0113 | 14 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-10974_332-10961dupCACACACACACACA | INFO_REALIGN_3_PRIME | |||||
|
chr7:151105869
|
C | CTT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(111): Show |
a0001a0007a0008 | a0001c0001a0001c0011a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(107): Show | 114 | 354 | 0.3220 | 2 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-10911_332-10910dupTT | 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 | ||||||
|
chr7:151108185
|
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 | ||||||
|
chr7:151109165
|
T | TA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(210): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(206): Show | 213 | 354 | 0.6017 | 1 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-7613dupA | INFO_REALIGN_3_PRIME | |||||
|
chr7:151110856
|
G | A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp2 others(36): Show |
a0001 | a0001c0001a0001c0011a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0011t0001others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0045a0001c0001t0001g0181others(35): Show | 39 | 354 | 0.1102 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-5937G>A | ||||||
|
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 | ||||||
|
chr7:151111022
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(159): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0015others(157): Show | 162 | 354 | 0.4576 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-5771G>A | ||||||
|
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 | ||||||
|
chr7:151112077
|
C | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(229): Show |
a0001a0004a0007others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(224): Show | 232 | 354 | 0.6554 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-4716C>A | ||||||
|
chr7:151112396
|
C | CGT | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00609.hp1 others(44): Show |
a0001a0003a0007 | a0001c0001a0001c0002a0003c0019others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0007a0001c0001t0001g0029a0001c0001t0001g0032others(43): Show | 47 | 354 | 0.1328 | 2 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-4358_332-4357dupGT | INFO_REALIGN_3_PRIME | |||||
|
chr7:151113676
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(147): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0015others(145): Show | 150 | 354 | 0.4237 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-3117T>C | ||||||
|
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 | ||||||
|
chr7:151119138
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00558.hp1 others(83): Show |
a0001a0004a0007 | a0001c0001a0001c0006a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0017others(82): Show | 86 | 354 | 0.2429 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 7/17 | c.969+506T>C | ||||||
|
chr7:151122497
|
G | A | intron_variant | MODIFIER | NA18970.hp2 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223a0001c0001t0001g0224 | 2 | 354 | 0.0057 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 8/17 | c.1129-1297G>A | ||||||
|
chr7:151124408
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00558.hp1 others(73): Show |
a0001a0004a0007 | a0001c0001a0001c0009a0004c0016others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0021others(72): Show | 76 | 354 | 0.2147 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 9/17 | c.1221+522G>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 | ||||||
|
chr7:151126052
|
G | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(118): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0015others(116): Show | 121 | 354 | 0.3418 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 9/17 | c.1221+2166G>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 | ||||||
|
chr7:151127784
|
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 | ||||||
|
chr7:151128228
|
G | A | 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.1222-352G>A | ||||||
|
chr7:151128405
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(119): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0017others(118): Show | 122 | 354 | 0.3446 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 9/17 | c.1222-175A>G | ||||||
|
chr7:151128480
|
C | G | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 354 | 0.0028 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 9/17 | c.1222-100C>G | ||||||
|
chr7:151128752
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00558.hp1 others(103): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0017others(102): Show | 106 | 354 | 0.2994 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 10/17 | c.1326+68G>A | ||||||
|
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 | ||||||
|
chr7:151129298
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(118): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0017others(117): Show | 121 | 354 | 0.3418 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 10/17 | c.1326+614A>G | ||||||
|
chr7:151129319
|
C | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(117): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0017others(116): Show | 120 | 354 | 0.3390 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 10/17 | c.1326+635C>G | ||||||
|
chr7:151129458
|
C | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(148): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0015others(146): Show | 151 | 354 | 0.4266 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 10/17 | c.1326+774C>G | ||||||
|
chr7:151129825
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(143): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0015others(141): Show | 146 | 354 | 0.4124 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 10/17 | c.1326+1141G>A | ||||||
|
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 | ||||||
|
chr7:151139153
|
A | G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00423.hp2 others(92): Show |
a0001a0008 | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(86): Show | 95 | 354 | 0.2684 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 12/17 | c.1667-826A>G |
| 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 | 0/0 | t0001 | 756 | 235 | 45 | 49 | 102 | 12 | 27 | copy fasta | chr7 | 151081475 | 151149434 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AGAP3 | 0/0 | g0224 | 1 | 0 | 0 | 1 | 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 | 0/0 | a0001c0001t0001 | 215 | 35 | 46 | 97 | 11 | 26 | 3494 | 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 | 0/0 | a0001c0001t0001g0224 | 1 | 0 | 0 | 1 | 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 | -0.9408 | -0.9407 | -0.9408 | 0.0000 | acceptor | a0001c0001t0001g0224 | NA19091.hp1 | NA19091.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151116793 | + | 2 | 0.9966 | 0.9966 | 0.9966 | 0.0000 | donor | a0001c0001t0001g0224 | NA19091.hp1 | NA19091.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151116851 | + | 2 | -0.9986 | -0.9986 | -0.9986 | 0.0000 | acceptor | a0001c0001t0001g0224 | NA19091.hp1 | NA19091.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151117095 | + | 3 | 0.9983 | 0.9983 | 0.9983 | 0.0000 | donor | a0001c0001t0001g0224 | NA19091.hp1 | NA19091.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151117182 | + | 3 | -0.9982 | -0.9982 | -0.9982 | 0.0000 | acceptor | a0001c0001t0001g0224 | NA19091.hp1 | NA19091.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151117371 | + | 4 | 0.9931 | 0.9931 | 0.9931 | 0.0000 | donor | a0001c0001t0001g0224 | NA19091.hp1 | NA19091.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151117456 | + | 4 | -0.9872 | -0.9872 | -0.9872 | 0.0000 | acceptor | a0001c0001t0001g0224 | NA19091.hp1 | NA19091.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151117636 | + | 5 | 0.9984 | 0.9984 | 0.9984 | 0.0000 | donor | a0001c0001t0001g0224 | NA19091.hp1 | NA19091.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151117777 | + | 5 | -0.8924 | -0.8924 | -0.8924 | 0.0000 | acceptor | a0001c0001t0001g0224 | NA19091.hp1 | NA19091.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151118210 | + | 6 | 0.9986 | 0.9986 | 0.9986 | 0.0000 | donor | a0001c0001t0001g0224 | NA19091.hp1 | NA19091.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151118344 | + | 6 | -0.9844 | -0.9844 | -0.9844 | 0.0000 | acceptor | a0001c0001t0001g0224 | NA19091.hp1 | NA19091.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151118505 | + | 7 | 0.9963 | 0.9963 | 0.9963 | 0.0000 | donor | a0001c0001t0001g0224 | NA19091.hp1 | NA19091.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151118632 | + | 7 | -0.9969 | -0.9969 | -0.9969 | 0.0000 | acceptor | a0001c0001t0001g0224 | NA19091.hp1 | NA19091.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151119987 | + | 8 | 0.9978 | 0.9978 | 0.9978 | 0.0000 | donor | a0001c0001t0001g0224 | NA19091.hp1 | NA19091.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151120145 | + | 8 | -0.9995 | -0.9995 | -0.9995 | 0.0000 | acceptor | a0001c0001t0001g0224 | NA19091.hp1 | NA19091.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151123794 | + | 9 | 0.9994 | 0.9994 | 0.9994 | 0.0000 | donor | a0001c0001t0001g0224 | NA19091.hp1 | NA19091.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151123886 | + | 9 | -0.9894 | -0.9893 | -0.9894 | 0.0000 | acceptor | a0001c0001t0001g0224 | NA19091.hp1 | NA19091.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151128580 | + | 10 | 0.9879 | 0.9879 | 0.9879 | 0.0000 | donor | a0001c0001t0001g0224 | NA19091.hp1 | NA19091.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151128684 | + | 10 | -0.9858 | -0.9858 | -0.9858 | 0.0000 | acceptor | a0001c0001t0001g0224 | NA19091.hp1 | NA19091.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151134400 | + | 11 | 0.9096 | 0.9096 | 0.9096 | 0.0000 | donor | a0001c0001t0001g0224 | NA19091.hp1 | NA19091.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151134568 | + | 11 | -0.9806 | -0.9806 | -0.9806 | 0.0000 | acceptor | a0001c0001t0001g0224 | NA19091.hp1 | NA19091.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151138143 | + | 12 | 0.4469 | 0.4469 | 0.4469 | 0.0000 | donor | a0001c0001t0001g0224 | NA19091.hp1 | NA19091.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151138313 | + | 12 | -0.6899 | -0.6899 | -0.6899 | 0.0000 | acceptor | a0001c0001t0001g0224 | NA19091.hp1 | NA19091.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151139979 | + | 13 | 0.8519 | 0.8519 | 0.8519 | 0.0000 | donor | a0001c0001t0001g0224 | NA19091.hp1 | NA19091.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151140116 | + | 13 | -0.9712 | -0.9712 | -0.9712 | 0.0000 | acceptor | a0001c0001t0001g0224 | NA19091.hp1 | NA19091.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151141898 | + | 14 | 0.9918 | 0.9918 | 0.9918 | 0.0000 | donor | a0001c0001t0001g0224 | NA19091.hp1 | NA19091.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151142052 | + | 14 | -0.9918 | -0.9918 | -0.9918 | 0.0000 | acceptor | a0001c0001t0001g0224 | NA19091.hp1 | NA19091.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151142163 | + | 15 | 0.9973 | 0.9973 | 0.9973 | 0.0000 | donor | a0001c0001t0001g0224 | NA19091.hp1 | NA19091.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151142253 | + | 15 | -0.9992 | -0.9992 | -0.9992 | 0.0000 | acceptor | a0001c0001t0001g0224 | NA19091.hp1 | NA19091.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151142412 | + | 16 | 0.9951 | 0.9951 | 0.9951 | 0.0000 | donor | a0001c0001t0001g0224 | NA19091.hp1 | NA19091.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151142634 | + | 16 | -0.9940 | -0.9940 | -0.9940 | 0.0000 | acceptor | a0001c0001t0001g0224 | NA19091.hp1 | NA19091.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151143341 | + | 17 | 0.9955 | 0.9955 | 0.9955 | 0.0000 | donor | a0001c0001t0001g0224 | NA19091.hp1 | NA19091.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151143596 | + | 17 | -0.9972 | -0.9972 | -0.9972 | 0.0000 | acceptor | a0001c0001t0001g0224 | NA19091.hp1 | NA19091.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151143737 | + | 18 | 0.9243 | 0.9243 | 0.9243 | 0.0000 | donor | a0001c0001t0001g0224 | NA19091.hp1 | NA19091.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
|
thapid thapid_count
|
ghapid ghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 151086831:splice 151086831:variant goto | c.91dupGp.Val31fs | 3910649 | Benign | AGAP3:116988 | SO:0001589 frameshift_variant,SO:0001623 5_prime_UTR_variant,SO:0001627 intron_variant |
MedGen:CN169374 | + | 7 | 19 | 28 | 344 | a0001a0003a0004a0005a0006others(2): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(339): Show |