Individual #00000009

Reference de Araujo TK et al (2016) de Araujo TK et al (2016)
Remarks Q37.5 Left (IDC-10 Version 2016)
Panel size 60
Diseases NSCLP
Owner name Admin


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000010 DNA TaqMan - 253 Admin



Variants

253 entries on 3 pages. Showing entries 1 - 100.
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Chr     

Allele     

AscendingDNA change (genomic) (hg38)     

Reference     

DB-ID     

Frequency     

Allele Count     

Allele Number     

Owner     

Gene     

Effect     

Exon     

DNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen prediction     
1 Unknown g.23745865C>T dbSNP chr1_000001 0.917 Patients_Q37.5_left 110 120 Admin - - - - - - -
1 Unknown g.23749386C>T dbSNP chr1_000002 0.223 Patients_Q37.5_left 25 112 Admin - - - - - - -
1 Unknown g.23750961C>T dbSNP chr1_000003 0.181 Patients_Q37.5_left 21 116 Admin - - - - - - -
1 Unknown g.23757004C>T dbSNP chr1_000004 0.229 Patients_Q37.5_left 27 118 Admin - - - - - - -
1 Unknown g.23757159T>C dbSNP chr1_000005 0.254 Patients_Q37.5_left 30 118 Admin - - - - - - -
1 Unknown g.75128190G>A dbSNP chr1_000008 0.375 Patients_Q37.5_left 45 120 Admin - - - - - - -
1 Unknown g.75133215C>T dbSNP LHX8_000008 0.233 Patients_Q37.5_left 28 120 Admin LHX8 ./. - NM_001001933.1:c.18+2483C>T - r.(=) p.(=) -
1 Unknown g.75135460C>T dbSNP LHX8_000005 0.258 Patients_Q37.5_left 31 120 Admin LHX8 ./. - NM_001001933.1:c.19-1143C>T - r.(=) p.(=) -
1 Unknown g.75143364A>C dbSNP LHX8_000006 0.208 Patients_Q37.5_left 25 120 Admin LHX8 ./. - NM_001001933.1:c.610+26A>C - r.(=) p.(=) -
1 Unknown g.75144766C>T dbSNP LHX8_000007 0.300 Patients_Q37.5_left 36 120 Admin LHX8 ./. - NM_001001933.1:c.714+818C>T - r.(=) p.(=) -
1 Unknown g.75149341A>G dbSNP LHX8_000004 0.267 Patients_Q37.5_left 32 120 Admin LHX8 ./. - NM_001001933.1:c.810+659A>G - r.(=) p.(=) -
1 Unknown g.75151588C>T dbSNP LHX8_000001 0.275 Patients_Q37.5_left 33 120 Admin LHX8 ./. - NM_001001933.1:c.810+2906C>T - r.(=) p.(=) -
1 Unknown g.75152288C>A dbSNP LHX8_000002 0.119 Patients_Q37.5_left 14 118 Admin LHX8 ./. - NM_001001933.1:c.810+3606C>A - r.(=) p.(=) -
1 Unknown g.75156931C>T dbSNP LHX8_000003 0.393 Patients_Q37.5_left 44 112 Admin LHX8 ./. - NM_001001933.1:c.849C>T - r.(=) p.(=) -
1 Unknown g.209789449G>A dbSNP IRF6_000008 0.208 Patients_Q37.5_left 25 120 Admin IRF6 ./. - NM_006147.3:c.1179+218C>T - r.(=) p.(=) -
1 Unknown g.209791530G>T dbSNP IRF6_000006 0.867 Patients_Q37.5_left 104 120 Admin IRF6 ./. - NM_006147.3:c.668-643C>A - r.(=) p.(=) -
1 Unknown g.209795066C>T dbSNP IRF6_000007 0.158 Patients_Q37.5_left 19 120 Admin IRF6 ./. - NM_006147.3:c.508+224G>A - r.(=) p.(=) -
1 Unknown g.209796557G>C dbSNP IRF6_000004 0.283 Patients_Q37.5_left 34 120 Admin IRF6 ./. - NM_006147.3:c.175-5C>G - r.spl? p.? -
1 Unknown g.209798295G>C dbSNP IRF6_000005 0.375 Patients_Q37.5_left 45 120 Admin IRF6 ./. - NM_006147.3:c.175-1743C>G - r.(=) p.(=) -
1 Unknown g.209802870G>A dbSNP IRF6_000001 0.356 Patients_Q37.5_left 42 118 Admin IRF6 ./. - NM_006147.3:c.-75-827C>T - r.(=) p.(=) -
1 Unknown g.209803301T>C dbSNP IRF6_000002 0.367 Patients_Q37.5_left 44 120 Admin IRF6 ./. - NM_006147.3:c.-75-1258A>G - r.(=) p.(=) -
1 Unknown g.209804619G>C dbSNP IRF6_000003 0.150 Patients_Q37.5_left 18 120 Admin IRF6 ./. - NM_006147.3:c.-76+1328C>G - r.(=) p.(=) -
1 Unknown g.228004696G>A dbSNP chr1_000006 0.703 Patients_Q37.5_left 83 118 Admin - - - - - - -
1 Unknown g.228005052T>A dbSNP chr1_000007 0.509 Patients_Q37.5_left 59 116 Admin - - - - - - -
1 Unknown g.228020556A>G dbSNP WNT3A_000009 0.010 Patients_Q37.5_left 1 100 Admin WNT3A ./. - NM_033131.3:c.72-2111A>G - r.(=) p.(=) -
1 Unknown g.228022114T>A dbSNP WNT3A_000006 0.483 Patients_Q37.5_left 58 120 Admin WNT3A ./. - NM_033131.3:c.72-553T>A - r.(=) p.(=) -
1 Unknown g.228029296C>A dbSNP WNT3A_000001 0.283 Patients_Q37.5_left 34 120 Admin WNT3A ./. - NM_033131.3:c.313+6388C>A - r.(=) p.(=) -
1 Unknown g.228032181C>A dbSNP WNT3A_000002 0.242 Patients_Q37.5_left 29 120 Admin WNT3A ./. - NM_033131.3:c.313+9273C>A - r.(=) p.(=) -
1 Unknown g.228035335A>G dbSNP WNT3A_000003 0.792 Patients_Q37.5_left 95 120 Admin WNT3A ./. - NM_033131.3:c.313+12427A>G - r.(=) p.(=) -
1 Unknown g.228037123A>G dbSNP WNT3A_000004 0.633 Patients_Q37.5_left 76 120 Admin WNT3A ./. - NM_033131.3:c.314-13533A>G - r.(=) p.(=) -
1 Unknown g.228047307A>G dbSNP WNT3A_000005 0.219 Patients_Q37.5_left 25 114 Admin WNT3A ./. - NM_033131.3:c.314-3349A>G - r.(=) p.(=) -
1 Unknown g.228057123G>T dbSNP WNT3A_000007 0.742 Patients_Q37.5_left 89 120 Admin WNT3A ./. - NM_033131.3:c.580-1863G>T - r.(=) p.(=) -
1 Unknown g.228059650T>C dbSNP WNT3A_000008 0.319 Patients_Q37.5_left 37 116 Admin WNT3A ./. - NM_033131.3:c.*185T>C - r.(=) p.(=) -
2 Unknown g.202205344C>T dbSNP chr2_000002 0.398 Patients_Q37.5_left 47 118 Admin - - - - - - -
2 Unknown g.202214584T>C dbSNP SUMO1_000001 0.858 Patients_Q37.5_left 103 120 Admin SUMO1 ./. - NM_003352.4:c.88-150A>G - r.(=) p.(=) -
2 Unknown g.202224545G>A dbSNP SUMO1_000002 0.425 Patients_Q37.5_left 51 120 Admin SUMO1 ./. - NM_003352.4:c.13-4439C>T - r.(=) p.(=) -
2 Unknown g.202230180T>C dbSNP SUMO1_000003 0.076 Patients_Q37.5_left 9 118 Admin SUMO1 ./. - NM_003352.4:c.12+8260A>G - r.(=) p.(=) -
2 Unknown g.202233836C>T dbSNP SUMO1_000004 0.417 Patients_Q37.5_left 50 120 Admin SUMO1 ./. - NM_003352.4:c.12+4604G>A - r.(=) p.(=) -
2 Unknown g.202238678G>A dbSNP chr2_000001 0.325 Patients_Q37.5_left 39 120 Admin - - - - - - -
3 Unknown g.55465379C>T dbSNP chr3_000001 0.147 Patients_Q37.5_left 17 116 Admin - - - - - - -
3 Unknown g.55466380T>A dbSNP WNT5A_000001 0.517 Patients_Q37.5_left 62 120 Admin WNT5A ./. - NM_003392.4:c.*3712A>T - r.(=) p.(=) -
3 Unknown g.55467147T>C dbSNP WNT5A_000002 0.509 Patients_Q37.5_left 58 114 Admin WNT5A ./. - NM_003392.4:c.*2945A>G - r.(=) p.(=) -
3 Unknown g.55470702A>G dbSNP WNT5A_000003 0.483 Patients_Q37.5_left 58 120 Admin WNT5A ./. - NM_003392.4:c.685-152T>C - r.(=) p.(=) -
3 Unknown g.55471362G>C dbSNP WNT5A_000004 0.305 Patients_Q37.5_left 36 118 Admin WNT5A ./. - NM_003392.4:c.685-812C>G - r.(=) p.(=) -
3 Unknown g.55477647G>A dbSNP WNT5A_000005 0.345 Patients_Q37.5_left 40 116 Admin WNT5A ./. - NM_003392.4:c.391+1667C>T - r.(=) p.(=) -
3 Unknown g.55482935G>C dbSNP WNT5A_000006 0.083 Patients_Q37.5_left 10 120 Admin WNT5A ./. - NM_003392.4:c.7-2017C>G - r.(=) p.(=) -
3 Unknown g.55486750T>G dbSNP WNT5A_000007 0.698 Patients_Q37.5_left 81 116 Admin WNT5A ./. - NM_003392.4:c.6+230A>C - r.(=) p.(=) -
4 Unknown g.4862018C>A dbSNP MSX1_000001 0.381 Patients_Q37.5_left 45 118 Admin MSX1 ./. - NM_002448.3:c.470-683C>A - r.(=) p.(=) -
4 Unknown g.4863419A>G dbSNP MSX1_000002 0.567 Patients_Q37.5_left 59 104 Admin MSX1 ./. - NM_002448.3:c.*276A>G - r.(=) p.(=) -
4 Unknown g.123394883A>G dbSNP chr4_000001 0.754 Patients_Q37.5_left 89 118 Admin - - - - - - -
4 Unknown g.123399769A>G dbSNP SPRY1_000002 0.491 Patients_Q37.5_left 56 114 Admin SPRY1 ./. - NM_001258038.1:c.-55-1768A>G - r.(=) p.(=) -
4 Unknown g.123402583T>C dbSNP SPRY1_000001 0.475 Patients_Q37.5_left 57 120 Admin SPRY1 ./. - NM_001258038.1:c.*32T>C - r.(=) p.(=) -
5 Unknown g.138083805G>T dbSNP chr5_000001 0.136 Patients_Q37.5_left 16 118 Admin - - - - - - -
5 Unknown g.138084036A>G dbSNP WNT8A_000001 0.208 Patients_Q37.5_left 25 120 Admin WNT8A ./. - NM_058244.3:c.-54A>G - r.(=) p.(=) -
5 Unknown g.138084300C>T dbSNP WNT8A_000002 0.136 Patients_Q37.5_left 16 118 Admin WNT8A ./. - NM_058244.3:c.102+17C>T - r.(=) p.(=) -
5 Unknown g.138090758G>A dbSNP WNT8A_000003 0.417 Patients_Q37.5_left 50 120 Admin WNT8A ./. - NM_058244.3:c.741G>A - r.(=) p.(=) -
5 Unknown g.174726034A>G dbSNP MSX2_000003 0.575 Patients_Q37.5_left 69 120 Admin MSX2 ./. - NM_002449.4:c.379+996A>G - r.(=) p.(=) -
5 Unknown g.174728779T>C dbSNP MSX2_000004 0.825 Patients_Q37.5_left 99 120 Admin MSX2 ./. - NM_002449.4:c.380-380T>C - r.(=) p.(=) -
5 Unknown g.174729165T>A dbSNP MSX2_000002 0.800 Patients_Q37.5_left 96 120 Admin MSX2 ./. - NM_002449.4:c.386T>A - r.(?) p.(Met129Lys) -
5 Unknown g.174730093A>G dbSNP MSX2_000001 0.808 Patients_Q37.5_left 97 120 Admin MSX2 ./. - NM_002449.4:c.*510A>G - r.(=) p.(=) -
6 Unknown g.10394973C>T dbSNP chr6_000002 0.167 Patients_Q37.5_left 20 120 Admin - - - - - - -
6 Unknown g.10395339A>G dbSNP chr6_000003 0.551 Patients_Q37.5_left 65 118 Admin - - - - - - -
6 Unknown g.10398749A>T dbSNP TFAP2A_000001 0.342 Patients_Q37.5_left 41 120 Admin TFAP2A ./. - NM_003220.2:c.1026-44T>A - r.(=) p.(=) -
6 Unknown g.10402950T>C dbSNP TFAP2A_000002 0.308 Patients_Q37.5_left 37 120 Admin TFAP2A ./. - NM_003220.2:c.765-340A>G - r.(=) p.(=) -
6 Unknown g.10408524C>T dbSNP TFAP2A_000003 0.125 Patients_Q37.5_left 15 120 Admin TFAP2A ./. - NM_003220.2:c.480+1377G>A - r.(=) p.(=) -
6 Unknown g.10411955T>C dbSNP TFAP2A_000004 0.297 Patients_Q37.5_left 35 118 Admin TFAP2A ./. - NM_003220.2:c.46-1620A>G - r.(=) p.(=) -
6 Unknown g.10414773G>C dbSNP TFAP2A_000005 0.708 Patients_Q37.5_left 85 120 Admin TFAP2A, TFAP2A-AS1 ./. - NM_003220.2:c.45+168C>G, NR_033910.1:n.143G>C - r.(=), r.(?) p.(=), - -
6 Unknown g.83513844G>A dbSNP PRSS35_000008 0.583 Patients_Q37.5_left 70 120 Admin PRSS35 ./. - NM_153362.2:c.-21+1150G>A - r.(=) p.(=) -
6 Unknown g.83515044C>T dbSNP PRSS35_000009 0.186 Patients_Q37.5_left 22 118 Admin PRSS35 ./. - NM_153362.2:c.-21+2350C>T - r.(=) p.(=) -
6 Unknown g.83515280G>A dbSNP PRSS35_000001 0.767 Patients_Q37.5_left 92 120 Admin PRSS35 ./. - NM_153362.2:c.-21+2586G>A - r.(=) p.(=) -
6 Unknown g.83517927T>C dbSNP PRSS35_000002 0.588 Patients_Q37.5_left 67 114 Admin PRSS35 ./. - NM_153362.2:c.-21+5233T>C - r.(=) p.(=) -
6 Unknown g.83518056A>G dbSNP PRSS35_000003 0.208 Patients_Q37.5_left 25 120 Admin PRSS35 ./. - NM_153362.2:c.-21+5362A>G - r.(=) p.(=) -
6 Unknown g.83520556T>C dbSNP PRSS35_000004 0.292 Patients_Q37.5_left 35 120 Admin PRSS35 ./. - NM_153362.2:c.-20-2866T>C - r.(=) p.(=) -
6 Unknown g.83520934A>G dbSNP PRSS35_000005 0.833 Patients_Q37.5_left 100 120 Admin PRSS35 ./. - NM_153362.2:c.-20-2488A>G - r.(=) p.(=) -
6 Unknown g.83522978A>G dbSNP PRSS35_000006 0.767 Patients_Q37.5_left 92 120 Admin PRSS35 ./. - NM_153362.2:c.-20-444A>G - r.(=) p.(=) -
6 Unknown g.83524112G>A dbSNP PRSS35_000007 0.925 Patients_Q37.5_left 111 120 Admin PRSS35 ./. - NM_153362.2:c.671G>A - r.(?) p.(Arg224Gln) -
6 Unknown g.83526030G>T dbSNP chr6_000001 0.517 Patients_Q37.5_left 62 120 Admin - - - - - - -
7 Unknown g.27100259G>A dbSNP chr7_000001 0.842 Patients_Q37.5_left 101 120 Admin - - - - - - -
7 Unknown g.27102038C>A dbSNP HOXA2_000001 0.254 Patients_Q37.5_left 29 114 Admin HOXA2 ./. - NM_006735.3:c.391+72G>T - r.(=) p.(=) -
7 Unknown g.155807723T>C dbSNP SHH_000001 0.771 Patients_Q37.5_left 91 118 Admin SHH ./. - NM_000193.2:c.301-1166A>G - r.(=) p.(=) -
8 Unknown g.10724372A>C dbSNP SOX7_000007 0.692 Patients_Q37.5_left 83 120 Admin SOX7 ./. - NM_031439.3:c.*1366T>G - r.(=) p.(=) -
8 Unknown g.10724531G>C dbSNP SOX7_000004 0.075 Patients_Q37.5_left 9 120 Admin SOX7 ./. - NM_031439.3:c.*1207C>G - r.(=) p.(=) -
8 Unknown g.10724587C>G dbSNP SOX7_000006 0.125 Patients_Q37.5_left 15 120 Admin SOX7 ./. - NM_031439.3:c.*1151G>C - r.(=) p.(=) -
8 Unknown g.10725996A>G dbSNP SOX7_000005 0.466 Patients_Q37.5_left 55 118 Admin SOX7 ./. - NM_031439.3:c.909T>C - r.(=) p.(=) -
8 Unknown g.10726702C>T dbSNP SOX7_000001 0.642 Patients_Q37.5_left 77 120 Admin SOX7 ./. - NM_031439.3:c.239-36G>A - r.(=) p.(=) -
8 Unknown g.10727652T>C dbSNP SOX7_000002 0.175 Patients_Q37.5_left 21 120 Admin SOX7 ./. - NM_031439.3:c.239-986A>G - r.(=) p.(=) -
8 Unknown g.10729498G>C dbSNP SOX7_000003 0.517 Patients_Q37.5_left 62 120 Admin SOX7 ./. - NM_031439.3:c.238+698C>G - r.(=) p.(=) -
9 Unknown g.95441917C>T dbSNP chr9_000002 0.442 Patients_Q37.5_left 53 120 Admin - - - - - - -
9 Unknown g.95442510G>A dbSNP chr9_000001 0.083 Patients_Q37.5_left 10 120 Admin - - - - - - -
9 Unknown g.95445020C>G dbSNP PTCH1_000001 0.050 Patients_Q37.5_left 6 120 Admin PTCH1 ./. - NM_000264.3:c.*1373G>C - r.(=) p.(=) -
9 Unknown g.95447312G>A dbSNP PTCH1_000002 0.345 Patients_Q37.5_left 40 116 Admin PTCH1 ./. - NM_000264.3:c.3944C>T - r.(?) p.(Pro1315Leu) -
9 Unknown g.95476076G>A dbSNP PTCH1_000003 0.125 Patients_Q37.5_left 15 120 Admin PTCH1 ./. - NM_000264.3:c.1686C>T - r.(=) p.(=) -
9 Unknown g.95476908G>C dbSNP PTCH1_000004 0.300 Patients_Q37.5_left 36 120 Admin PTCH1 ./. - NM_000264.3:c.1504-51C>G - r.(=) p.(=) -
9 Unknown g.95480643A>G dbSNP PTCH1_000005 0.212 Patients_Q37.5_left 25 118 Admin PTCH1 ./. - NM_000264.3:c.747-55T>C - r.(=) p.(=) -
9 Unknown g.95493953T>G dbSNP PTCH1_000006 0.083 Patients_Q37.5_left 10 120 Admin PTCH1 ./. - NM_000264.3:c.395-8079A>C - r.(=) p.(=) -
9 Unknown g.95494027G>A dbSNP PTCH1_000007 0.050 Patients_Q37.5_left 6 120 Admin PTCH1 ./. - NM_000264.3:c.395-8153C>T - r.(=) p.(=) -
9 Unknown g.97855301T>C dbSNP FOXE1_000002 0.667 Patients_Q37.5_left 80 120 Admin FOXE1 ./. - NM_004473.3:c.*265T>C - r.(=) p.(=) -
9 Unknown g.97856378G>A dbSNP FOXE1_000001 1.000 Patients_Q37.5_left 118 118 Admin FOXE1 ./. - NM_004473.3:c.*1342G>A - r.(=) p.(=) -
10 Unknown g.117131062T>C dbSNP VAX1_000001 0.750 Patients_Q37.5_left 87 116 Admin VAX1 ./. - NM_001112704.1:c.*2946A>G - r.(=) p.(=) -
10 Unknown g.117131182G>A dbSNP VAX1_000002 0.525 Patients_Q37.5_left 62 118 Admin VAX1 ./. - NM_001112704.1:c.*2826C>T - r.(=) p.(=) -
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