| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr7:151087320
|
T | C | 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 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+248T>C | ||||||
|
chr7:151087426
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(177): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(172): Show | 180 | 354 | 0.5085 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+354C>T | ||||||
|
chr7:151087650
|
C | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(89): Show |
a0001a0004a0007 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0018others(88): Show | 92 | 354 | 0.2599 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+578C>A | ||||||
|
chr7:151087737
|
G | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(175): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(170): Show | 178 | 354 | 0.5028 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+665G>T | ||||||
|
chr7:151087925
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(175): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(170): Show | 178 | 354 | 0.5028 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+853G>A | ||||||
|
chr7:151088234
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(175): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(170): Show | 178 | 354 | 0.5028 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+1162C>T | ||||||
|
chr7:151089802
|
CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(99): Show |
a0001a0004a0007 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0012others(98): Show | 102 | 354 | 0.2881 | -1 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+2731delA | ||||||
|
chr7:151089959
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(99): Show |
a0001a0004a0007 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0012others(98): Show | 102 | 354 | 0.2881 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+2887G>A | ||||||
|
chr7:151090236
|
TG | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(172): Show |
a0001a0004a0007 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(167): Show | 175 | 354 | 0.4944 | -1 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+3176delG | INFO_REALIGN_3_PRIME | |||||
|
chr7:151090363
|
T | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(177): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(172): Show | 180 | 354 | 0.5085 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+3291T>G | ||||||
|
chr7:151090380
|
CTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(102): Show |
a0001a0004a0007 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0012others(101): Show | 105 | 354 | 0.2966 | -2 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+3332_331+3333delTT | 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 | ||||||
|
chr7:151091217
|
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 | ||||||
|
chr7:151091590
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(98): Show |
a0001a0004a0007 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0012others(97): Show | 101 | 354 | 0.2853 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+4518A>G | ||||||
|
chr7:151092469
|
G | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(95): Show |
a0001a0004a0007 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0018others(94): Show | 98 | 354 | 0.2768 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+5397G>C | ||||||
|
chr7:151092516
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(95): Show |
a0001a0004a0007 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0018others(94): Show | 98 | 354 | 0.2768 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+5444C>T | ||||||
|
chr7:151093032
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(95): Show |
a0001a0004a0007 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0018others(94): Show | 98 | 354 | 0.2768 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+5960C>T | ||||||
|
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 | |||||
|
chr7:151096383
|
TC | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(96): Show |
a0001a0004a0007 | a0001c0001a0001c0006a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0018others(95): Show | 99 | 354 | 0.2797 | -1 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+9312delC | ||||||
|
chr7:151096872
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(96): Show |
a0001a0004a0007 | a0001c0001a0001c0006a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0018others(95): Show | 99 | 354 | 0.2797 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+9800G>A | ||||||
|
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 | ||||||
|
chr7:151098982
|
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 | ||||||
|
chr7:151099339
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(96): Show |
a0001a0004a0007 | a0001c0001a0001c0006a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0018others(95): Show | 99 | 354 | 0.2797 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+12267T>C | ||||||
|
chr7:151099342
|
C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(93): Show |
a0001a0004a0007 | a0001c0001a0001c0006a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0018others(92): Show | 96 | 354 | 0.2712 | 1 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.331+12287dupA | 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 | ||||||
|
chr7:151101564
|
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 | ||||||
|
chr7:151103652
|
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 | ||||||
|
chr7:151105776
|
G | GCCCCCC | intron_variant | MODIFIER | HG00673.hp2 HG00733.hp2 HG01081.hp1 others(21): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0025a0001c0001t0001g0031a0001c0001t0001g0032others(21): Show | 24 | 354 | 0.0678 | 6 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-11011_332-11006dupCCCCCC | INFO_REALIGN_3_PRIME | |||||
|
chr7:151105792
|
C | CCACACA | intron_variant | MODIFIER | HG00140.hp2 HG00673.hp1 HG01099.hp1 others(41): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0008others(38): Show | 44 | 354 | 0.1243 | 6 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-10966_332-10961dupCACACA | INFO_REALIGN_3_PRIME | |||||
|
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 | ||||||
|
chr7:151108185
|
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 | |||||
|
chr7:151110885
|
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 | CGTGT | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00673.hp2 others(55): Show |
a0001a0004a0005 | a0001c0001a0004c0016a0005c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0017others(54): Show | 58 | 354 | 0.1638 | 4 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-4360_332-4357dupGTGT | 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 | ||||||
|
chr7:151114757
|
C | T | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 354 | 0.0028 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | c.332-2036C>T | ||||||
|
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 | ||||||
|
chr7:151125572
|
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 | ||||||
|
chr7:151140442
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(110): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0017others(109): Show | 113 | 354 | 0.3192 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 13/17 | c.1804+326C>T | ||||||
|
chr7:151142706
|
G | A | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 354 | 0.0028 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 16/17 | c.2273+72G>A |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | g0043 | 1 | 0 | 1 | 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 | 0/0 | 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 | a0001c0001t0001g0043 | 1 | 0 | 1 | 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 | -0.9374 | -0.9374 | -0.9374 | 0.0000 | acceptor | a0001c0001t0001g0043 | HG01243.hp2 | HG01243.hp2 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151116793 | + | 2 | 0.9966 | 0.9966 | 0.9966 | 0.0000 | donor | a0001c0001t0001g0043 | HG01243.hp2 | HG01243.hp2 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151116851 | + | 2 | -0.9986 | -0.9986 | -0.9986 | 0.0000 | acceptor | a0001c0001t0001g0043 | HG01243.hp2 | HG01243.hp2 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151117095 | + | 3 | 0.9983 | 0.9983 | 0.9983 | 0.0000 | donor | a0001c0001t0001g0043 | HG01243.hp2 | HG01243.hp2 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151117182 | + | 3 | -0.9982 | -0.9982 | -0.9982 | 0.0000 | acceptor | a0001c0001t0001g0043 | HG01243.hp2 | HG01243.hp2 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151117371 | + | 4 | 0.9931 | 0.9931 | 0.9931 | 0.0000 | donor | a0001c0001t0001g0043 | HG01243.hp2 | HG01243.hp2 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151117456 | + | 4 | -0.9872 | -0.9872 | -0.9872 | 0.0000 | acceptor | a0001c0001t0001g0043 | HG01243.hp2 | HG01243.hp2 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151117636 | + | 5 | 0.9984 | 0.9984 | 0.9984 | 0.0000 | donor | a0001c0001t0001g0043 | HG01243.hp2 | HG01243.hp2 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151117777 | + | 5 | -0.8923 | -0.8923 | -0.8923 | 0.0000 | acceptor | a0001c0001t0001g0043 | HG01243.hp2 | HG01243.hp2 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151118210 | + | 6 | 0.9986 | 0.9986 | 0.9986 | 0.0000 | donor | a0001c0001t0001g0043 | HG01243.hp2 | HG01243.hp2 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151118344 | + | 6 | -0.9842 | -0.9842 | -0.9842 | 0.0000 | acceptor | a0001c0001t0001g0043 | HG01243.hp2 | HG01243.hp2 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151118505 | + | 7 | 0.9964 | 0.9964 | 0.9964 | 0.0000 | donor | a0001c0001t0001g0043 | HG01243.hp2 | HG01243.hp2 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151118632 | + | 7 | -0.9970 | -0.9970 | -0.9970 | 0.0000 | acceptor | a0001c0001t0001g0043 | HG01243.hp2 | HG01243.hp2 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151119987 | + | 8 | 0.9978 | 0.9978 | 0.9978 | 0.0000 | donor | a0001c0001t0001g0043 | HG01243.hp2 | HG01243.hp2 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151120145 | + | 8 | -0.9995 | -0.9995 | -0.9995 | 0.0000 | acceptor | a0001c0001t0001g0043 | HG01243.hp2 | HG01243.hp2 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151123794 | + | 9 | 0.9994 | 0.9994 | 0.9994 | 0.0000 | donor | a0001c0001t0001g0043 | HG01243.hp2 | HG01243.hp2 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151123886 | + | 9 | -0.9894 | -0.9894 | -0.9894 | 0.0000 | acceptor | a0001c0001t0001g0043 | HG01243.hp2 | HG01243.hp2 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151128580 | + | 10 | 0.9876 | 0.9876 | 0.9876 | 0.0000 | donor | a0001c0001t0001g0043 | HG01243.hp2 | HG01243.hp2 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151128684 | + | 10 | -0.9837 | -0.9837 | -0.9837 | 0.0000 | acceptor | a0001c0001t0001g0043 | HG01243.hp2 | HG01243.hp2 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151134400 | + | 11 | 0.9096 | 0.9096 | 0.9096 | 0.0000 | donor | a0001c0001t0001g0043 | HG01243.hp2 | HG01243.hp2 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151134568 | + | 11 | -0.9806 | -0.9806 | -0.9806 | 0.0000 | acceptor | a0001c0001t0001g0043 | HG01243.hp2 | HG01243.hp2 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151138143 | + | 12 | 0.4459 | 0.4459 | 0.4459 | 0.0000 | donor | a0001c0001t0001g0043 | HG01243.hp2 | HG01243.hp2 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151138313 | + | 12 | -0.6889 | -0.6889 | -0.6889 | 0.0000 | acceptor | a0001c0001t0001g0043 | HG01243.hp2 | HG01243.hp2 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151139979 | + | 13 | 0.8516 | 0.8516 | 0.8516 | 0.0000 | donor | a0001c0001t0001g0043 | HG01243.hp2 | HG01243.hp2 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151140116 | + | 13 | -0.9716 | -0.9716 | -0.9716 | 0.0000 | acceptor | a0001c0001t0001g0043 | HG01243.hp2 | HG01243.hp2 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151141898 | + | 14 | 0.9919 | 0.9919 | 0.9919 | 0.0000 | donor | a0001c0001t0001g0043 | HG01243.hp2 | HG01243.hp2 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151142052 | + | 14 | -0.9922 | -0.9922 | -0.9922 | 0.0000 | acceptor | a0001c0001t0001g0043 | HG01243.hp2 | HG01243.hp2 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151142163 | + | 15 | 0.9973 | 0.9973 | 0.9973 | 0.0000 | donor | a0001c0001t0001g0043 | HG01243.hp2 | HG01243.hp2 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151142253 | + | 15 | -0.9992 | -0.9992 | -0.9992 | 0.0000 | acceptor | a0001c0001t0001g0043 | HG01243.hp2 | HG01243.hp2 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151142412 | + | 16 | 0.9953 | 0.9952 | 0.9953 | 0.0000 | donor | a0001c0001t0001g0043 | HG01243.hp2 | HG01243.hp2 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151142634 | + | 16 | -0.9926 | -0.9926 | -0.9926 | 0.0000 | acceptor | a0001c0001t0001g0043 | HG01243.hp2 | HG01243.hp2 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151143341 | + | 17 | 0.9956 | 0.9956 | 0.9956 | 0.0000 | donor | a0001c0001t0001g0043 | HG01243.hp2 | HG01243.hp2 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151143596 | + | 17 | -0.9972 | -0.9972 | -0.9972 | 0.0000 | acceptor | a0001c0001t0001g0043 | HG01243.hp2 | HG01243.hp2 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151143737 | + | 18 | 0.9261 | 0.9261 | 0.9261 | 0.0000 | donor | a0001c0001t0001g0043 | HG01243.hp2 | HG01243.hp2 | 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 | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(348): Show |
HIGH | chr7 | C | CG | TogoVar |
| 151086833:splice 151086833:variant goto | c.92T>Gp.Val31Gly | 3910650 | Likely_benign | AGAP3:116988 | SO:0001583 missense_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 | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(348): Show |
MODERATE | chr7 | T | G | TogoVar |
| 151086835:splice 151086835:variant goto | c.94T>Gp.Cys32Gly | 3910652 | Likely_benign | AGAP3:116988 | SO:0001583 missense_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 | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(348): Show |
MODERATE | chr7 | T | G | TogoVar |
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr7:151101893
|
c.331+14821G>A | Body mass index | a0001a0004a0006a0007 | a0001c0001a0001c0003a0001c0004a0001c0006a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0017others(167): Show | HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 others(172): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 458,000 European ancestry individual others(2): Show |
AGAP3 | rs749319-? | + | MODIFIER | chr7 | G | A | |
|
chr7:151108185
|
c.332-8608A>G | Lung function (FVC) | a0001a0004a0007a0008 | a0001c0001a0001c0002a0001c0003a0001c0006a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(16): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(279): Show | HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 others(287): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 372,000 European ancestry individual others(2): Show |
AGAP3 | rs10952302-? | + | MODIFIER | chr7 | A | G | |
|
chr7:151103652
|
c.332-13141A>G | Response to vandetanib | a0001a0004a0006a0007a0008 | a0001c0001a0001c0003a0001c0004a0001c0006a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(15): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(287): Show |