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| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 10 | 112771421 | 112771421 | A > G | SHOC2 SHOC2 |
NM_001269039.1:c.1456A>G NM_007373.3:c.1594A>G |
NP_001255968.1:p.Ser486Gly NP_031399.2:p.Ser532Gly |
22/9594 | 0.00115 | 5 | non_synonymous | Benign |
| View | 10 | 123310871 | 123310871 | A > G | FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 |
NR_073009.1:n.859T>C NM_001144913.1:c.557T>C NM_001144914.1:c.557T>C NM_000141.4:c.557T>C NM_023029.2:c.290T>C NM_001144919.1:c.290T>C NM_001144915.1:c.290T>C NM_001144916.1:c.212T>C NM_001144917.1:c.557T>C NM_022970.3:c.557T>C NM_001144918.1:c.212T>C |
NP_001138385.1:p.Met186Thr NP_001138386.1:p.Met186Thr NP_000132.3:p.Met186Thr NP_075418.1:p.Met97Thr NP_001138391.1:p.Met97Thr NP_001138387.1:p.Met97Thr NP_001138388.1:p.Met71Thr NP_001138389.1:p.Met186Thr NP_075259.4:p.Met186Thr NP_001138390.1:p.Met71Thr |
663/9599 | 0.03891 | 5 | Benign | |
| View | 10 | 131760506 | 131760506 | G > A | EBF3 |
NM_001005463.2:c.356-16C>T |
12/9555 | 0.00063 | 5 | three_prime_flank | Benign | |
| View | 11 | 640253 | 640253 | C > G | DRD4 |
NM_000797.3:c.1004C>G |
NP_000788.2:p.Ala335Gly |
64/9594 | 0.00339 | 5 | non_synonymous | Benign |
| View | 11 | 1271906 | 1271906 | C > T | MUC5B |
NM_002458.2:c.13796C>T |
NP_002449.2:p.Thr4599Met |
113/9555 | 0.00617 | 5 | non_synonymous | Benign |
| View | 11 | 2930593 | 2930593 | C > - | SLC22A18 SLC22A18 |
NM_183233.2:c.403+8del NM_002555.5:c.403+8del |
15/9594 | 0.00083 | 5 | five_prime_intronic | Benign | |
| View | 11 | 5248243 | 5248243 | A > G | HBB |
NM_000518.4:c.9T>C |
NP_000509.1:p.His3= |
10687/11422 | 0.79005 | 5 | Benign | |
| View | 11 | 6412854 | 6412854 | C > T | SMPD1 SMPD1 |
NM_000543.4:c.559C>T NM_001007593.2:c.556C>T |
NP_000534.3:p.Pro187Ser NP_001007594.2:p.Pro186Ser |
93/11422 | 0.0042 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 11 | 6413182 | 6413182 | G > A | SMPD1 SMPD1 |
NM_000543.4:c.887G>A NM_001007593.2:c.884G>A |
NP_000534.3:p.Arg296Gln NP_001007594.2:p.Arg295Gln |
87/11422 | 0.00394 | 5 | Benign | |
| View | 11 | 6636668 | 6636668 | C > T | TPP1 |
NM_000391.3:c.1266+5G>A |
137/11422 | 0.00617 | 5 | Common ExAC MAF original cat: TYPE_3 - five_prime_flank | Benign | |
| View | 11 | 6638938 | 6638938 | T > C | TPP1 |
NM_000391.3:c.299A>G |
NP_000382.3:p.Gln100Arg |
79/11422 | 0.00355 | 5 | Benign | |
| View | 11 | 6648332 | 6648332 | T > A | DCHS1 |
ENST00000299441.3:c.5938A>T |
ENSP00000299441.3:p.Thr1980Ser |
88/9594 | 0.00464 | 5 | non_synonymous | Benign |
| View | 11 | 7060977 | 7060977 | A > T | NLRP14 |
NM_176822.3:c.322A>T |
NP_789792.1:p.Lys108Ter |
105/9594 | 0.00563 | 1 | Benign | |
| View | 11 | 9871781 | 9871784 | GATT > - | SBF2 |
NM_030962.3:c.2611-19_2611-16del |
133/9556 | 0.00717 | 5 | three_prime_flank | Benign | |
| View | 11 | 10521644 | 10521644 | T > G | AMPD3 AMPD3 AMPD3 AMPD3 AMPD3 |
NM_001025389.1:c.1569T>G NM_001025390.1:c.1590T>G NM_001172430.1:c.1569T>G NM_001172431.1:c.1092T>G NM_000480.2:c.1596T>G |
NP_001020560.1:p.Phe523Leu NP_001020561.1:p.Phe530Leu NP_001165901.1:p.Phe523Leu NP_001165902.1:p.Phe364Leu NP_000471.1:p.Phe532Leu |
16/9594 | 0.00083 | 5 | non_synonymous | Benign |
| View | 11 | 17663382 | 17663382 | C > A | OTOG |
NM_001277269.1:c.8227-12C>A |
80/9546 | 0.00429 | 5 | polypyrimidine_tract | Benign | |
| View | 11 | 22249088 | 22249088 | G > A | ANO5 ANO5 |
NM_213599.2:c.604G>A NM_001142649.1:c.601G>A |
NP_998764.1:p.Glu202Lys NP_001136121.1:p.Glu201Lys |
61/9594 | 0.00328 | 5 | Benign | |
| View | 11 | 26463582 | 26463582 | C > T | ANO3 |
NM_031418.2:c.164C>T |
NP_113606.2:p.Ser55Phe |
126/9594 | 0.00667 | 5 | non_synonymous | Benign |
| View | 11 | 34981990 | 34981990 | G > A | PDHX PDHX PDHX |
NM_001166158.1:c.342+12837G>A NM_003477.2:c.566G>A NM_001135024.1:c.521G>A |
NP_003468.2:p.Arg189His NP_001128496.1:p.Arg174His |
59/11422 | 0.00258 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 11 | 36595760 | 36595760 | C > A | RAG1 |
ENST00000299440.5:c.906C>A |
ENSP00000299440.5:p.Asp302Glu |
163/11422 | 0.00735 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 11 | 44129386 | 44129386 | A > G | EXT2 EXT2 EXT2 |
NM_000401.3:c.223A>G NM_001178083.1:c.124A>G NM_207122.1:c.124A>G |
NP_000392.3:p.Met75Val NP_001171554.1:p.Met42Val NP_997005.1:p.Met42Val |
71/9595 | 0.0038 | 5 | non_synonymous | Benign |
| View | 11 | 47368170 | 47368170 | G > A | MYBPC3 |
NM_000256.3:c.926+8C>T |
16/9594 | 0.00083 | 5 | five_prime_intronic | Benign | |
| View | 11 | 47469654 | 47469654 | A > G | RAPSN RAPSN |
NM_032645.4:c.241T>C NM_005055.4:c.241T>C |
NP_116034.2:p.Phe81Leu NP_005046.2:p.Phe81Leu |
157/11422 | 0.00687 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 11 | 57561543 | 57561543 | A > G | CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 CTNND1 TMX2-CTNND1 |
ENST00000358694.6:c.257A>G ENST00000361332.4:c.257A>G ENST00000530094.1:c.-47A>G ENST00000528232.1:c.-47A>G ENST00000532463.1:c.-47A>G ENST00000399050.4:c.257A>G ENST00000426142.2:c.-47A>G ENST00000532787.1:c.-47A>G ENST00000415361.2:c.-47A>G ENST00000526357.1:c.95A>G ENST00000529873.1:c.95A>G ENST00000428599.2:c.257A>G ENST00000532245.1:c.-36-1506A>G ENST00000532649.1:c.95A>G ENST00000529986.1:c.-47A>G ENST00000528621.1:c.95A>G ENST00000530748.1:c.95A>G ENST00000532844.1:c.95A>G ENST00000361391.6:c.257A>G ENST00000361796.4:c.257A>G ENST00000529526.1:c.95A>G NR_037646.1:n.816A>G |
ENSP00000351527.6:p.Asn86Ser ENSP00000354823.4:p.Asn86Ser ENSP00000382004.4:p.Asn86Ser ENSP00000433334.1:p.Asn32Ser ENSP00000435494.1:p.Asn32Ser ENSP00000413586.2:p.Asn86Ser ENSP00000435379.1:p.Asn32Ser ENSP00000432243.1:p.Asn32Ser ENSP00000436744.1:p.Asn32Ser ENSP00000433276.1:p.Asn32Ser ENSP00000354785.6:p.Asn86Ser ENSP00000354907.4:p.Asn86Ser ENSP00000436323.1:p.Asn32Ser |
17/9594 | 0.00089 | 5 | non_synonymous | Benign |
| View | 11 | 61724453 | 61724453 | C > A | BEST1 BEST1 |
NM_001139443.1:c.439C>A NM_004183.3:c.619C>A |
NP_001132915.1:p.Leu147Ile NP_004174.1:p.Leu207Ile |
81/9594 | 0.00433 | 5 | Benign | |
| View | 11 | 66287196 | 66287196 | G > A | BBS1 |
NM_024649.4:c.700G>A |
NP_078925.3:p.Glu234Lys |
190/9594 | 0.01027 | 5 | Benign | |
| View | 11 | 67807143 | 67807144 | - > C | TCIRG1 |
ENST00000265686.3:c.-5+560dupC |
1006/4835 | 0.20776 | 5 | ClinVar Benign variant | Benign | |
| View | 11 | 67813930 | 67813930 | A > G | TCIRG1 TCIRG1 |
ENST00000265686.3:c.1166-970A>G ENST00000532635.1:c.518-970A>G |
1012/11386 | 0.07891 | 5 | ClinVar Benign variant | Benign | |
| View | 11 | 67814979 | 67814979 | G > C | TCIRG1 TCIRG1 |
ENST00000265686.3:c.1245G>C ENST00000532635.1:c.597G>C |
ENSP00000265686.3:p.Leu415= ENSP00000434407.1:p.Leu199= |
11123/11422 | 0.96599 | 5 | ClinVar Benign variant | Benign |
| View | 11 | 67817991 | 67817992 | - > GGCCTG | TCIRG1 TCIRG1 |
ENST00000265686.3:c.2285_2290dupTGGGCC ENST00000532635.1:c.1637_1642dupTGGGCC |
ENSP00000265686.3:p.Leu762_Gly763dup ENSP00000434407.1:p.Leu546_Gly547dup |
142/11422 | 0.00643 | 5 | Common ExAC MAF original cat: TYPE_3 - in_frame_indel | Benign |
| View | 11 | 67926515 | 67926515 | T > C | KMT5B |
ENST00000304363.4:c.1298A>G |
ENSP00000305899.4:p.Asn433Ser |
21/9594 | 0.00109 | 5 | non_synonymous | Benign |
| View | 11 | 70821059 | 70821059 | G > A | SHANK2 |
NM_012309.3:c.520C>T |
NP_036441.2:p.Arg174Cys |
127/9594 | 0.00678 | 5 | Benign | |
| View | 11 | 70858151 | 70858151 | G > A | SHANK2 |
NM_012309.3:c.207+15C>T |
41/9555 | 0.00215 | 5 | five_prime_intronic | Benign | |
| View | 11 | 73753271 | 73753272 | - > A | C2CD3 |
NM_015531.4:c.5496-6dupT |
21/9594 | 0.00109 | 5 | polypyrimidine_tract | Benign | |
| View | 11 | 76868309 | 76868310 | - > TGCCCACATTTT | MYO7A MYO7A MYO7A |
NM_000260.3:c.736-15_736-4dupTGCCCACATTTT NM_001127179.2:c.736-15_736-4dupTGCCCACATTTT NM_001127180.1:c.736-15_736-4dupTGCCCACATTTT |
120/11383 | 0.00536 | 5 | Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract | Benign | |
| View | 11 | 76925733 | 76925733 | G > A | MYO7A MYO7A |
NM_000260.3:c.6640G>A NM_001127180.1:c.6520G>A |
NP_000251.3:p.Gly2214Ser NP_001120652.1:p.Gly2174Ser |
112/11422 | 0.00512 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 11 | 108114727 | 108114727 | G > C | ATM |
ENST00000278616.4:c.544G>C |
ENSP00000278616.4:p.Val182Leu |
60/11422 | 0.00267 | 5 | Benign | |
| View | 11 | 108121413 | 108121413 | T > - | ATM |
ENST00000278616.4:c.1236-3del |
246/11384 | 0.0108 | 5 | polypyrimidine_tract | Benign | |
| View | 11 | 108121733 | 108121733 | G > A | ATM |
ENST00000278616.4:c.1541G>A |
ENSP00000278616.4:p.Gly514Asp |
130/11422 | 0.00573 | 5 | Benign | |
| View | 11 | 108122592 | 108122592 | C > G | ATM |
ENST00000278616.4:c.1636C>G |
ENSP00000278616.4:p.Leu546Val |
78/11422 | 0.0035 | 5 | Benign | |
| View | 11 | 108138045 | 108138045 | C > T | ATM |
ENST00000278616.4:c.2614C>T |
ENSP00000278616.4:p.Pro872Ser |
68/11422 | 0.00302 | 5 | Benign | |
| View | 11 | 108141958 | 108141959 | - > T | ATM |
ENST00000278616.4:c.2922-8dupT |
56/11383 | 0.0025 | 5 | three_prime_flank | Benign | |
| View | 11 | 108151707 | 108151708 | - > T | ATM |
ENST00000278616.4:c.3403-15dupT |
26/11383 | 0.00119 | 5 | polypyrimidine_tract | Benign | |
| View | 11 | 108159732 | 108159732 | C > T | ATM |
ENST00000278616.4:c.4138C>T |
ENSP00000278616.4:p.His1380Tyr |
182/11422 | 0.00801 | 5 | Benign | |
| View | 11 | 111897031 | 111897032 | - > T | DLAT |
NM_001931.4:c.381+22dupT |
10/9594 | 0.00052 | 5 | five_prime_intronic | Benign | |
| View | 11 | 113857661 | 113857661 | G > A | HTR3A HTR3A HTR3A HTR3A |
NM_000869.5:c.1049G>A NM_213621.3:c.1145G>A NR_046363.1:n.1121G>A NM_001161772.2:c.986G>A |
NP_000860.2:p.Arg350His NP_998786.2:p.Arg382His NP_001155244.1:p.Arg329His |
172/9594 | 0.00912 | 5 | Benign | |
| View | 11 | 117252491 | 117252491 | C > G | CEP164 CEP164 |
NM_014956.4:c.1484C>G NM_001271933.1:c.1493C>G |
NP_055771.4:p.Pro495Arg NP_001258862.1:p.Pro498Arg |
11/9594 | 0.00063 | 5 | non_synonymous | Benign |
| View | 11 | 118343378 | 118343378 | G > A | KMT2A KMT2A |
NM_001197104.1:c.1504G>A NM_005933.3:c.1504G>A |
NP_001184033.1:p.Glu502Lys NP_005924.2:p.Glu502Lys |
107/9594 | 0.00558 | 5 | non_synonymous | Benign |
| View | 11 | 118373179 | 118373179 | G > A | KMT2A KMT2A |
NM_001197104.1:c.6572G>A NM_005933.3:c.6563G>A |
NP_001184033.1:p.Arg2191Gln NP_005924.2:p.Arg2188Gln |
29/9594 | 0.00151 | 5 | non_synonymous | Benign |
| View | 11 | 119145667 | 119145667 | A > G | CBL |
NM_005188.3:c.869+4A>G |
112/9594 | 0.00594 | 5 | Common ExAC MAF original cat: TYPE_3 - five_prime_flank | Benign |