DDIG results for job: 72d821d5-1101-42d7-b9a7-56192e3b9808

Results in a tab-delimited format: results.txt

The query submitted for this job: query

Please see the description of DDIG's output format.

chrom.  position  ref. 
allele
alt. 
allele
gene 
name
protein 
sequence
protein 
position
ref.  alt.  prediction  prob.[?] raw[?]
score
DDIG[?]
model
chr2 215855594 C T ABCA12 CCDS33372 1152 S S disease 53.5 0.534946 synonymous
chr2 215819926 C T ABCA12 CCDS33372 2131 P P disease 63.7 0.636828 synonymous
chr16 16253384 G A ABCC6 CCDS10568 1230 I I neutral 98.2 0.018186 synonymous
chr21 45708253 C G AIRE CCDS13706 188 V V neutral 96.8 0.031729 synonymous
chr20 10637069 A C JAG1 CCDS13112 244 S S neutral 99.6 0.003574 synonymous
chr20 10629709 C A JAG1 CCDS13112 465 R R disease 72.1 0.721402 synonymous
chrX 152034485 C T NSDHL CCDS14717 222 G G disease 51.8 0.518029 synonymous
chrX 152036178 G A NSDHL CCDS14717 250 A A neutral 98.9 0.010871 synonymous
chr1 173873198 A G SERPINC1 CCDS1313 408 N N neutral 95.2 0.048075 synonymous
chr16 71602614 C A TAT CCDS10903 408 T T disease 50.8 0.508466 synonymous
chr16 71602170 A G TAT CCDS10903 414 N N neutral 98.2 0.018207 synonymous
chr1 154570909 GATG G ADAR CCDS1071 584 SS S neutral 92.0 0.079687 NFS indel
chr1 100382042 C TATC AGL CCDS759 1446 H YH disease 88.0 0.879610 NFS indel
chr1 100346671 GTTT T AGL CCDS759 647 VS S disease 81.0 0.809624 NFS indel
chr7 91652177 T TAAA AKAP9 CCDS5622 1334 T TK neutral 95.3 0.047480 NFS indel
chr7 91652178 A AAAC AKAP9 CCDS5622 1335 K KQ neutral 93.7 0.063334 NFS indel
chrX 77298823 TCTG G ATP7A CCDS35339 1338 LL L disease 87.0 0.870173 NFS indel
chrX 77298841 TA AT ATP7A CCDS35339 1344 SI RF disease 86.2 0.861776 NFS indel
chrX 76944375 T TGTT ATRX CCDS14434 177 Q QQ disease 85.2 0.852175 NFS indel
chrX 76944320 AAGA A ATRX CCDS14434 194 VL V disease 87.5 0.875131 NFS indel
chr7 27239320 G GCAGC... HOXA13 CCDS5412 126 A AAAAAAA neutral 70.3 0.296736 NFS indel
chr7 27239446 G GCCGC... HOXA13 CCDS5412 84 A AAAAAAA disease 74.6 0.745565 NFS indel
chr7 26192217 C CCTG NFE2L3 CCDS5396 33 Y YL neutral 62.6 0.373977 NFS indel
chrX 77373600 AAGG G PGK1 CCDS14438 192 KE E disease 89.3 0.893242 NFS indel
chrX 79281229 T AGCT TBX22 CCDS14445 196 F SF disease 88.5 0.884540 NFS indel
chr17 34182100 T TT C17orf66 CCDS11299 561 Q TAPGPC* neutral 97.7 0.023107 FS indel
chr15 42691818 GT T CAPN3 CCDS10085 393 G VALPE... disease 92.7 0.926592 FS indel
chr15 40764413 A GTACC... CHST14 CCDS10059 334 E GTGQP... disease 88.7 0.887009 FS indel
chr13 20797557 CC C GJB6 CCDS9291 22 K RCGSQ... disease 51.6 0.515774 FS indel
chr19 7267604 TT T INSR CCDS12176 135 N T* disease 86.3 0.863273 FS indel
chr12 110019250 C GC MVK CCDS9132 141 A GGLGL... disease 87.0 0.869744 FS indel
chr15 23021236 CC C NIPA2 CCDS10010 34 G ASFDL... disease 87.0 0.870051 FS indel
chr19 7542175 T TAT PEX11G CCDS12178 214 V * disease 75.1 0.750800 FS indel
chr1 161044495 AA A PVRL4 CCDS1216 304 P H* disease 91.7 0.916761 FS indel
chr12 110969389 GAAAG G RAD9B CCDS9148 416 K NLMEV... neutral 89.4 0.106274 FS indel
chr17 17697099 GCA A RAI1 CCDS11188 280 Q AAAAA... disease 77.0 0.769903 FS indel
chr1 11082588 T AT TARDBP CCDS122 374 Y * disease 65.3 0.652732 FS indel
chr12 114836456 GGTGG... T TBX5 CCDS9173 140 D EGRIG* disease 92.9 0.929192 FS indel
chr17 15406543 G CTG TVP23C CCDS11170 156 R QGLAT... neutral 91.8 0.081817 FS indel
chr1 11253722 G A ANGPTL7 CCDS128 188 W * disease 89.9 0.898675 nonsense
chr1 11254607 C A ANGPTL7 CCDS128 254 Y * disease 91.2 0.911770 nonsense
chrX 2853025 G A ARSE CCDS14122 540 R * disease 64.2 0.641603 nonsense
chrX 2852900 C T ARSE CCDS14122 581 W * disease 68.3 0.682964 nonsense
chrX 3002366 T A ARSF CCDS14123 163 Y * neutral 99.4 0.005915 nonsense
chrX 3021856 C T ARSF CCDS14123 386 R * neutral 99.5 0.005325 nonsense
chr15 40750721 C T BAHD1 CCDS10058 20 R * disease 75.3 0.753137 nonsense
chr15 40468873 C T BUB1B CCDS10053 194 R * disease 77.8 0.777966 nonsense
chr15 40476003 C T BUB1B CCDS10053 224 R * disease 78.0 0.780091 nonsense
chr15 40488843 C T BUB1B CCDS10053 386 Q * disease 80.3 0.802650 nonsense
chr15 40462282 C T BUB1B CCDS10053 67 R * disease 77.0 0.769708 nonsense
chr1 169512110 G A F5 CCDS1281 740 R * neutral 56.9 0.431193 nonsense
chr1 169511927 G A F5 CCDS1281 801 Q * neutral 56.2 0.437711 nonsense
chr15 40861573 G T RPUSD2 CCDS10061 13 G * disease 55.5 0.555096 nonsense