+ Filter Options

SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
 GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
 EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
 CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP 		READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP 		ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE 		MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

+ Genes 8

+ Genes associated with diseases 7

Genes at Omim

IL10RA, IL1RN, MEFV, MVK, NLRP3, NOD2, PLCG2,
IL10RA Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3)
IL1RN {Gastric cancer risk after H. pylori infection}, 137215 (3)
{Microvascular complications of diabetes 4}, 612628 (3)
Interleukin 1 receptor antagonist deficiency, 612852 (3)
MEFV Familial Mediterranean fever, AD, 134610 (3)
Familial Mediterranean fever, AR, 249100 (3)
MVK Hyper-IgD syndrome, 260920 (3)
Mevalonic aciduria, 610377 (3)
Porokeratosis 3, multiple types, 175900 (3)
NLRP3 CINCA syndrome, 607115 (3)
Deafness, autosomal dominant 34, with or without inflammation, 617772 (3)
Familial cold inflammatory syndrome 1, 120100 (3)
Keratoendothelitis fugax hereditaria, 148200 (3)
Muckle-Wells syndrome, 191900 (3)
NOD2 Blau syndrome, 186580 (3)
{Inflammatory bowel disease 1, Crohn disease}, 266600 (3)
{Psoriatic arthritis, susceptibility to}, 607507 (2)
{Yao syndrome}, 617321 (3)
PLCG2 Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878 (3)
Familial cold autoinflammatory syndrome 3, 614468 (3)

Genes at Clinical Genomics Database

IL10RA, IL10RB, IL1RN, MEFV, MVK, NLRP3, NOD2, PLCG2,
IL10RA Inflammatory bowel disease 28, autosomal recessive
IL10RB Inflammatory bowel disease 25, early onset, autosomal recessive
IL1RN Osteomyelitis, sterile multifocal, with periostitis and pustulosis
MEFV Familial Mediterranean fever
MVK Mevalonic aciduria
Hyper-IgD syndrome
NLRP3 Chronic Infantile Neurologic Cutaneous Articular (CINCA) syndrome
Neonatal Onset Multisystem Inflammatory Disease (NOMID)
Muckle-Wells syndrome
NOD2 Blau syndrome
Sarcoidosis, early-onset
PLCG2 Familial cold autoinflammatory syndrome 3 (PLAID)
Autoinflammation, antibody deficiency, and immune dysregulation syndrome (APLAID)

Genes at HGMD

Summary

Number of Variants: 148
Number of Genes: 8

Export to: CSV
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs446433
dbSNP Clinvar 		113887273 9853.9 G A PASS 0/1 3222 None None None 0.19169 0.19170 0.20583 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 1 rs10925022
dbSNP Clinvar 		247597365 1444.32 G A PASS 1/1 148 None None None 0.11402 0.78870 0.09257 None None None None None None NLRP3|0.017756451|75.44%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs442710
dbSNP Clinvar 		113887399 9727.84 G A PASS 0/1 2860 None None None 0.19169 0.19170 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs451578
dbSNP Clinvar 		113888557 310.522 G A PASS 0/1 35 None None None 0.19469 0.19470 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 1 rs10754557
dbSNP Clinvar 		247599232 5188.02 G A PASS 0/1 2257 None None None 0.48403 0.48400 0.49685 None None None None None None NLRP3|0.017756451|75.44%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs16956011
dbSNP Clinvar 		81970353 7097.92 G A PASS 0/1 3116 None None None 0.20707 0.20710 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs3135500
dbSNP Clinvar 		50766886 21796.1 G A PASS 1/1 2212 None None None 0.35224 0.35220 None None None None None None NOD2|0.13707172|44.87%

NOD2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs5743291
dbSNP Clinvar 		50757276 6024.67 G A PASS 0/1 2764 NON_SYNONYMOUS_CODING MODERATE None 0.03335 0.03335 0.06902 0.03 0.27 None None None None None None NOD2|0.13707172|44.87%

MEFV
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs224213
dbSNP Clinvar 		3299749 3094.66 G A PASS 0/1 1421 SYNONYMOUS_CODING LOW None 0.69070 0.69070 0.40434 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs1231124
dbSNP Clinvar 		3294678 3814.51 G A PASS 0/1 1907 None None None 0.35324 0.35320 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs224204
dbSNP Clinvar 		3296429 5652.63 G A PASS 0/1 2829 None None None 0.45407 0.45410 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs12617010
dbSNP Clinvar 		228092459 5760.64 C A PASS 0/1 2741 None None None 0.31530 0.31530 None None None None None None COL4A3|0.119573089|47.51%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 15 rs184445497
dbSNP Clinvar 		77323473 3664.15 G A PASS 0/1 1614 None None None 0.00359 0.00359 0.00979 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 15 rs12903227
dbSNP Clinvar 		77323029 319.798 C A PASS 0/1 120 None None None 0.31390 0.31390 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 19 rs2361019
dbSNP Clinvar 		22729613 8769.94 T A PASS 0/1 4398 None None None 0.49621 0.49620 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 5 rs370672
dbSNP Clinvar 		2448146 8181.39 G A PASS 0/1 5133 None None None 0.47824 0.47820 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 15 rs2254441
dbSNP Clinvar 		77288018 1447.06 G A PASS 0/1 817 None None None 0.38898 0.38900 0.26696 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 12 rs2270374
dbSNP Clinvar 		110029186 6836.45 G A PASS 0/1 2834 None None None 0.11142 0.11140 0.12886 None None None None None None MVK|0.043603767|64.65%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 21 rs2838081
dbSNP Clinvar 		43062859 8302.64 G A PASS 0/1 3617 None None None 0.43231 0.43230 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 1 rs1533622
dbSNP Clinvar 		18722846 39000.5 G A PASS 1/1 5637 None None None 0.21326 0.21330 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs2234677
dbSNP Clinvar 		113875509 5859.06 G A PASS 0/1 2981 None None None 0.18650 0.18650 0.20587 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 . 81914669 123.539 G A PASS 0/1 1336 None None None None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 1 rs1533623
dbSNP Clinvar 		18722801 39435.3 G A PASS 1/1 5574 None None None 0.71765 0.71770 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 21 rs2239573
dbSNP Clinvar 		34638859 160.495 G A PASS 0/1 89 None None None 0.61981 0.61980 0.33268 None None None None None None None

NLRP3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 1 rs3806268
dbSNP Clinvar 		247587477 1967.32 G A PASS 0/1 1482 SYNONYMOUS_CODING LOW None 0.00040 0.38740 0.40597 None None None None None None NLRP3|0.017756451|75.44%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 18 . 76089760 22.237 T A PASS 0/1 1657 None None None None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs4405546
dbSNP Clinvar 		81973474 35026.8 C A PASS 1/1 3515 None None None 0.92213 0.92210 0.08457 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs4889420
dbSNP Clinvar 		81903055 29374.9 G A PASS 1/1 2964 None None None 0.51198 0.51200 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs4888183
dbSNP Clinvar 		81892708 2477.68 T A PASS 0/1 931 None None None 0.54113 0.54110 0.44304 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 . 81887937 28168.2 AT A,AC PASS 2/2 2845 None None None None None None None None None PLCG2|0.32771221|25.64%

IL1RN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs315952
dbSNP Clinvar 		113890304 8695.13 T C PASS 0/1 3461 SYNONYMOUS_CODING LOW None 0.35004 0.35000 0.33315 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 1 rs3024494
dbSNP Clinvar 		206943351 34235.4 T C PASS 1/1 3459 None None None 0.97684 0.97680 None None None None None None IL10|0.653335058|9.97%

MEFV
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs224224
dbSNP Clinvar 		3304654 2596.15 T C PASS 0/1 1239 SYNONYMOUS_CODING LOW None 0.38658 0.38660 0.46637 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 1 rs1518111
dbSNP Clinvar 		206944645 23940.6 T C PASS 1/1 2407 None None None 0.57308 0.57310 0.26741 None None None None None None IL10|0.653335058|9.97%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 1 rs1518110
dbSNP Clinvar 		206944861 20295.1 A C PASS 1/1 2069 None None None 0.57428 0.57430 None None None None None None IL10|0.653335058|9.97%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 1 rs3806265
dbSNP Clinvar 		247586336 4795.76 T C PASS 0/1 2051 None None None 0.45967 0.45970 None None None None None None NLRP3|0.017756451|75.44%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 1 rs1539019
dbSNP Clinvar 		247600301 8382.52 A C PASS 0/1 3852 None None None 0.65435 0.65440 None None None None None None NLRP3|0.017756451|75.44%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 1 . 247611582 288.749 T C PASS 0/1 252 None None None None None None None None None NLRP3|0.017756451|75.44%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 1 rs10754558
dbSNP Clinvar 		247612036 4782.18 G C PASS 0/1 2168 None None None 0.65355 0.65360 None None None None None None NLRP3|0.017756451|75.44%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs2234679
dbSNP Clinvar 		113875584 5849.76 G C PASS 0/1 2942 None None None 0.18590 0.18590 0.19822 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs16065
dbSNP Clinvar 		113875631 5615.53 T C PASS 0/1 2936 None None None 0.18570 0.18570 0.19399 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs4251986
dbSNP Clinvar 		113877538 7525.59 G C PASS 0/1 3775 None None None 0.18750 0.18750 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs878972
dbSNP Clinvar 		113877713 7608.03 A C PASS 0/1 3806 None None None 0.18970 0.18970 0.19899 None None None None None None None

IL1RN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs419598
dbSNP Clinvar 		113887207 9954.87 T C PASS 0/1 3115 SYNONYMOUS_CODING LOW None 0.19169 0.19170 0.20614 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs495282
dbSNP Clinvar 		113887294 9681.12 G C PASS 0/1 3199 None None None 0.19169 0.19170 0.21397 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs495410
dbSNP Clinvar 		113887338 9827.62 A C PASS 0/1 3188 None None None 0.19169 0.19170 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs432014
dbSNP Clinvar 		113888579 632.131 T C PASS 0/1 36 None None None 0.22105 0.22100 0.23658 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 11 rs4252274
dbSNP Clinvar 		117864961 7057.36 G C PASS 0/1 3365 None None None 0.11462 0.11460 None None None None None None IL10RA|0.008850497|81.79%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 10 rs10796165
dbSNP Clinvar 		14208588 39852.4 T C PASS 1/1 4665 None None None 0.81909 0.81910 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 11 rs12421109
dbSNP Clinvar 		99880163 5130.84 T C PASS 0/1 1988 None None None 0.40715 0.40710 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 13 rs7492234
dbSNP Clinvar 		54060892 8779.58 T C PASS 0/1 5553 None None None 0.46945 0.46940 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 15 rs3812911
dbSNP Clinvar 		77310636 3640.57 G C PASS 0/1 1688 None None None 0.60603 0.60600 0.26976 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 15 rs2469237
dbSNP Clinvar 		77323009 1193.5 T C PASS 1/1 119 None None None 0.98103 0.98100 None None None None None None None

MEFV
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs224207
dbSNP Clinvar 		3297175 8548.43 T C PASS 0/1 3790 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.65056 0.65060 0.43143 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs224212
dbSNP Clinvar 		3298865 5202.09 T C PASS 0/1 1941 None None None 0.66114 0.66110 0.41619 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs3135499
dbSNP Clinvar 		50766127 25038.4 A C PASS 1/1 2483 None None None 0.35823 0.35820 None None None None None None NOD2|0.13707172|44.87%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs4072830
dbSNP Clinvar 		81887957 27842.4 A C PASS 1/1 2856 None None None 0.23782 0.23780 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs34028338
dbSNP Clinvar 		81887977 6384.93 G C PASS 0/1 2883 None None None 0.07628 0.07628 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs4072828
dbSNP Clinvar 		81888237 31127.3 G C PASS 1/1 3112 None None None 0.20927 0.20930 0.25417 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs4341734
dbSNP Clinvar 		81891998 9600.8 G C PASS 0/1 3287 None None None 0.70827 0.70830 0.24650 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs533300322
dbSNP Clinvar 		81892635 2507.63 G C PASS 0/1 931 None None None 0.00060 0.00060 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs545254533
dbSNP Clinvar 		81892890 2521.51 A C PASS 0/1 936 None None None 0.00080 0.00080 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs7202250
dbSNP Clinvar 		81902570 39761.2 T C PASS 1/1 5250 None None None 0.52836 0.52840 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs12448130
dbSNP Clinvar 		81953081 29505.8 T C PASS 1/1 2964 None None None 0.98862 0.98860 0.01157 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs7195281
dbSNP Clinvar 		81902600 39973.2 G C PASS 1/1 5299 None None None 0.51238 0.51240 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs73594838
dbSNP Clinvar 		81904638 8478.51 T C PASS 0/1 4006 None None None 0.04393 0.04393 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs7192509
dbSNP Clinvar 		81904674 37609.6 T C PASS 1/1 3781 None None None 0.51258 0.51260 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs6564933
dbSNP Clinvar 		81934047 3539.39 T C PASS 0/1 1662 None None None 0.67213 0.67210 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs4435248
dbSNP Clinvar 		81939150 27309.2 G C PASS 1/1 2745 None None None 0.79553 0.79550 0.25360 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs4306504
dbSNP Clinvar 		81946714 3667.08 T C PASS 0/1 1745 None None None 0.52816 0.52820 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 . 81953339 2534.88 T C PASS 0/1 2781 None None None None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs4366702
dbSNP Clinvar 		81962071 4797.33 A C PASS 0/1 2060 None None None 0.00180 0.68890 None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs3934955
dbSNP Clinvar 		81970366 7014.63 A C PASS 0/1 3117 None None None 0.52955 0.52960 None None None None None None PLCG2|0.32771221|25.64%

PLCG2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs1071644
dbSNP Clinvar 		81971403 4828.85 T C PASS 0/1 2252 SYNONYMOUS_CODING LOW None 0.31390 0.31390 0.40560 None None None None None None PLCG2|0.32771221|25.64%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 21 rs4919921
dbSNP Clinvar 		43062771 34075.9 T C PASS 1/1 3438 None None None 0.36302 0.51840 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 Y rs9786184
dbSNP Clinvar 		2887824 22933.1 A C PASS 1/1 2297 None None None 0.82563 0.82560 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 5 rs148080283,rs11283037
dbSNP Clinvar 		2448060 6559.63 C CG... PASS 0/1 5257 None None None 0.12220 0.12220 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs757127641
dbSNP Clinvar 		81954789 9248.3 CT C,GT PASS 1/2 2847 None None None None None None None None None PLCG2|0.32771221|25.64%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 1 rs12117378
dbSNP Clinvar 		247597281 402.563 A G PASS 0/1 27 None None None None None None None None None NLRP3|0.017756451|75.44%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 11 rs12289401
dbSNP Clinvar 		99880224 3350.53 A G PASS 0/1 1781 None None None 0.36482 0.36480 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 11 rs12420819
dbSNP Clinvar 		99880282 4638.31 A G PASS 0/1 1801 None None None 0.06629 0.06629 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 12 rs10849443
dbSNP Clinvar 		6439255 2303.11 A G PASS 1/1 232 None None None 1.00000 1.00000 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 12 rs12426675
dbSNP Clinvar 		6439470 2698.64 A G PASS 0/1 1181 None None None 0.33367 0.33370 0.23235 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs6728149
dbSNP Clinvar 		228092334 27329.5 A G PASS 1/1 2741 None None None 0.70387 0.70390 None None None None None None COL4A3|0.119573089|47.51%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 12 rs2270375
dbSNP Clinvar 		110024541 9279.62 A G PASS 0/1 4625 None None None 0.22863 0.22860 0.27195 None None None None None None MVK|0.043603767|64.65%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 21 rs2838083
dbSNP Clinvar 		43063044 7068.79 A G PASS 0/1 3435 None None None 0.48722 0.48720 None None None None None None None

MEFV
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 . 3304411 1457.75 GC G PASS 1/1 245 FRAME_SHIFT HIGH None None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 10 rs10796164
dbSNP Clinvar 		14208510 8589.55 A G PASS 0/1 4694 None None None 0.60383 0.60380 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 2 rs6714835
dbSNP Clinvar 		228092389 6406.2 T G PASS 0/1 2782 None None None 0.31769 0.31770 None None None None None None COL4A3|0.119573089|47.51%

IL10RB
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 21 rs2834167
dbSNP Clinvar 		34640788 7006.51 A G PASS 0/1 3200 NON_SYNONYMOUS_CODING MODERATE None 0.33946 0.33950 0.21452 0.05 0.39 None None None None None None None

MEFV
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs224225
dbSNP Clinvar 		3304762 1762.63 A G PASS 0/1 957 SYNONYMOUS_CODING LOW None 0.38938 0.38940 0.47631 None None None None None None None

PLCG2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs1143686
dbSNP Clinvar 		81888152 31928.1 A G PASS 1/1 3194 SYNONYMOUS_CODING LOW None 0.21206 0.21210 0.25572 None None None None None None PLCG2|0.32771221|25.64%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 5 rs6555108
dbSNP Clinvar 		2448160 39824.4 A G PASS 1/1 5174 None None None 0.56709 0.56710 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 15 rs12900395
dbSNP Clinvar 		77310345 3638.2 C G PASS 0/1 1660 None None None 0.33646 0.33650 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 21 . 34660653 524.377 A G PASS 0/1 450 None None None None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 5 rs438055
dbSNP Clinvar 		2448052 7865.3 A G PASS 0/1 5247 None None None 0.30631 0.30630 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 1 rs1554286
dbSNP Clinvar 		206944233 23975.2 A G PASS 1/1 2419 None None None 0.59185 0.59190 0.24912 None None None None None None IL10|0.653335058|9.97%
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 10 rs10796166
dbSNP Clinvar 		14208652 39058.5 A G PASS 1/1 4612 None None None 0.90615 0.90620 None None None None None None None
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 16 rs7201045
dbSNP Clinvar 		81959952 5109.52 A G PASS 0/1 2013 None None None 0.75939 0.75940 None None None None None None PLCG2|0.32771221|25.64%

IL10RA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View abdullah_h_mahmood_ngs_032_17 ionxpress_011 r_2017_11_03_08_01_58_user_s5-0138-35-copy_of_ngs_032_17_aip_48_ornek_2 11 rs2229113
dbSNP Clinvar 		117869670 15909.8 A G PASS 1/1 1618 NON_SYNONYMOUS_CODING MODERATE None 0.81110 0.81110 0.27155 0.56 0.00 None None None None None None IL10RA|0.008850497|81.79%