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Dr. Son's Somatic Mutation Databases, First Steps

Look one variant up in five places
and five answers come back

One KRAS G12C goes by a coordinate, an HGVS string, an rs number and a COSMIC id β€” and its hg19 and hg38 positions differ by 152,935 bases.
Yet most of the actual work is joining: attaching recurrence, clinical calls, population frequency and actionability to your own variant table. When that join slips, it throws no error β€” conclusions appear that were never there, and real ones disappear.
Over these 20 lessons you perform those joins by hand on a real 982-row MAF and 2,731 samples from four cBioPortal studies, and count exactly where they leak. Python runs right inside this page.

🐍 PythonπŸ—‚οΈ variant databasesπŸ”— join keys 🧬 HGVSπŸ“ hg19/hg38🎯 driver callingπŸ‡¬πŸ‡§ English
Start lesson 1 β†’

How you'll learn

πŸ”—You do the joins

You join the same data on four different keys and count how many rows go missing or spurious each time. Nothing raises an error.

πŸ”Found in the data itself

Within 982 rows, 17 protein names already point at several coordinates, and the EGFR exon-19 deletion sits there under two of them. This is not a hypothetical.

▢️With the real data

The original TCGA MAF, 2,731 samples across four cBioPortal studies, and five real gene panels. Not a stand-in dataset.

🚫Saying what is missing

COSMIC, ClinVar, gnomAD and OncoKB records are absent β€” and the final lesson's card prints those four blanks rather than filling them in.

Full curriculum

01
변이 ν•˜λ‚˜λ₯Ό λ‹€μ„― κ΅°λ°μ„œ 찾으면 닡이 λ‹€μ„― 개 μ˜¨λ‹€
TCGA 폐선암 MAF 982쀄 Β· 검체 490 Β· μ„œλ‘œ λ‹€λ₯Έ 변이 629κ°€μ§€
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02
λ°μ΄ν„°λ² μ΄μŠ€ 지도 β€” 무엇이 어디에 μžˆλ‚˜
COSMIC Β· cBioPortal Β· ClinVar Β· gnomAD Β· OncoKB Β· GENIE Β· dbSNP
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03
생식세포 변이와 체세포 변이 β€” λ‹€λ₯Έ 것이고 λ°μ΄ν„°λ² μ΄μŠ€λ„ λ‹€λ₯΄λ‹€
νƒœμ–΄λ‚  λ•ŒλΆ€ν„° 있던 것과 μ‚΄λ©΄μ„œ 생긴 것
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04
λ³€μ΄μ˜ 이름은 무엇인가 β€” 쑰인 ν‚€λ₯Ό λ§Œλ“ λ‹€
chr:pos:ref>alt Β· μ‹€μ œ 982μ€„μ—μ„œ 629κ°€μ§€
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05
rs λ²ˆν˜ΈλŠ” 무엇을 κ°€λ¦¬ν‚€λ‚˜ β€” 그리고 μ™œ μ²΄μ„Έν¬μ—λŠ” 잘 μ•ˆ λΆ™λ‚˜
μ‹λ³„μžλŠ” νŽΈν•˜μ§€λ§Œ λͺ¨λ“  변이에 μžˆμ§€λŠ” μ•Šλ‹€
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06
HGVS β€” p. 와 c. 와 g. λŠ” μ„œλ‘œ λ°”κΏ” μ“Έ 수 μ—†λ‹€
μ‹€μ œ MAF μ—μ„œ λ‹¨λ°±μ§ˆ 이름 17κ°œκ°€ μ’Œν‘œ μ—¬λŸΏμ„ 가리킨닀
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07
hg19 와 hg38 β€” μ’Œν‘œκ°€ ν†΅μ§Έλ‘œ λ°€λ¦°λ‹€
KRAS G12C Β· 25,398,285 λŒ€ 25,245,350 Β· 차이 152,935
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08
μœ μ „μž 이름이 바뀐닀 β€” 별칭과 μ—‘μ…€ 참사
MARCH1 이 λ‚ μ§œκ°€ 되고, 같은 μœ μ „μžκ°€ 이름 셋을 κ°–λŠ”λ‹€
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09
같은 결싀을 두 κ°€μ§€λ‘œ 적을 수 μžˆλ‹€ β€” μ’ŒμΈ‘μ •λ ¬
μ‹€μ œ MAF 의 EGFR E746_A750del 이 μ’Œν‘œ 두 κ°€μ§€λ‘œ λ“€μ–΄ μžˆλ‹€
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10
γ€μ‹€μŠ΅γ€‘ 두 ν‘œλ₯Ό μ‹€μ œλ‘œ 이어 뢙인닀 β€” λͺ‡ κ°œκ°€ μ‚¬λΌμ§€λ‚˜
같은 982쀄을 λ„€ κ°€μ§€ ν‚€λ‘œ 쑰인해 λ³Έλ‹€
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11
μž¬λ°œμ„± β€” 같은 μžλ¦¬κ°€ λͺ‡ 번 λ‚˜μ˜€λ‚˜
KRAS G12C 70회 Β· 이 μ½”ν˜ΈνŠΈμ˜ μ΅œλ‹€ 재발 자리
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12
λͺ°λ € μžˆλŠ”κ°€ 흩어져 μžˆλŠ”κ°€ β€” ν•«μŠ€νŒŸμ˜ λͺ¨μ–‘
cBioPortal 4연ꡬ Β· 검체 2,731 Β· μœ μ „μžλ§ˆλ‹€ ν•«μŠ€νŒŸ 점유율
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13
길이둜 λ‚˜λˆˆλ‹€ β€” κΈ΄ μœ μ „μžλŠ” κ·Έλƒ₯ 자주 λ§žλŠ”λ‹€
폐선암 μ‹€μ œ κ°’ Β· KRAS 157.05 λŒ€ TTN 1.40 (ν‚¬λ‘œμ•„λ―Έλ…Έμ‚°λ‹Ή)
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14
μš΄μ „μžμ™€ 승객 β€” 걸러 λ‚΄λŠ” 논리
κΈ°λŒ€μΉ˜λ₯Ό λ§Œλ“€κ³  그것보닀 λ§Žμ€μ§€λ₯Ό λ³Έλ‹€
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15
μΌœμ•Ό ν•˜λ‚˜ κΊΌμ•Ό ν•˜λ‚˜ β€” λ°©ν–₯이 약을 μ •ν•œλ‹€
μ‹€μ œ μ‘°κΈ°μ’…κ²° λΉ„μœ¨ Β· KRAS λŒ€ TP53
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16
λ°μ΄ν„°λ² μ΄μŠ€λŠ” 세상이 μ•„λ‹ˆλ‹€ β€” 무엇이 λ“€μ–΄μ˜€κ³  무엇이 μ•ˆ λ“€μ–΄μ˜€λ‚˜
μ‹€μ œ MSK μ½”ν˜ΈνŠΈ 1,661κ²€μ²΄μ˜ μ•”μ’… ꡬ성
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17
νŒ¨λ„μ΄ λ³Έ κ²ƒλ§Œ λ°μ΄ν„°λ² μ΄μŠ€μ— λ“€μ–΄κ°„λ‹€
μ „μž₯μ—‘μ†œ 157,142개 β†’ IMPACT468 둜 자λ₯΄λ©΄ 6,253개 (4.0%)
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18
이게 정말 체세포인가 β€” VAF 와 gnomAD ν•„ν„°
μ‹€μ œ 982쀄 Β· VAF 쀑앙값 0.319 Β· 0.5 κ·Όμ²˜μ— 249쀄
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19
γ€μ‹€μŠ΅ 쒅합】 변이 ν•˜λ‚˜λ₯Ό μ²˜μŒλΆ€ν„° λκΉŒμ§€ μ‘°νšŒν•œλ‹€
KRAS G12C β€” 쑰인 ν‚€λΆ€ν„° μ‹€ν–‰κ°€λŠ₯μ„±κΉŒμ§€
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20
정리 β€” 말할 수 μžˆλŠ” 것과 말할 수 μ—†λŠ” 것
쑰인 μ κ²€ν‘œ Β· 그리고 이 κ°•μ˜μ— μ—†λŠ” 넉 쀄
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