Table S1 Genes selected for re-sequencing to identify single nucleotide polymorphisms (SNPs) in QTL for canine hip dysplasia in German shepherd dogs

CFA / Locus / Gene symbol / Gene name
1 / LOC484142 / DAPK1 / death-associated protein kinase 1
1 / GNAQ / GNAQ / guanine nucleotide binding protein (G protein), q polypeptide
1 / LOC484161 / OSTF1 / osteoclast stimulating factor 1
1 / LOC476331 / PIP5K1B / phosphatidylinositol-4-phosphate 5-kinase, type I, beta
1 / LOC610693 / CENPP/OMD / centromer protein P/osteomodulin
1 / LOC610704 / OGN / osteoglycin (osteoinductive factor, mimecan)
1 / LOC611700 / HAS1 / hyaluronan synthase 1
1 / LOC484449 / MARK4 / MAP/microtubule affinity-regulating kinase 4
1 / LOC476475 / TBCB
alias CKAP1 / tubulin folding cofactor B
3 / LOC488683 / OCA2 / oculocutaneous albinism II (pink-eye dilution homolog, mouse)
3 / LOC488704 / CHSY1 / carbohydrate (chondroitin) synthase 1
3 / IGF1R / IGF1R / insulin-like growth factor 1 receptor
3 / LOC488722 / ST8SIA2 / ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2
3 / AGC1 / AGC1 / aggrecan 1 (chondroitin sulfate proteoglycan 1, large aggregating proteoglycan, antigen identified by monoclonal antibody A0122)
3 / LOC609165 / HAPLN3 / hyaluronan and proteoglycan link protein 3
3 / LOC608366 / ARNT2 / aryl-hydrocarbon receptor nuclear translocator 2
3 / LOC488806 / WHSC2 / Wolf-Hirschhorn syndrome candidate 2
3 / LOC479077 / WHSC1 / Wolf-Hirschhorn syndrome candidate 1
3 / LOC488808 / FGFR3 / fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)
3 / LOC477884 / RAB28 / RAB28, member RAS oncogene family
3 / LOC611156 / EVC2 / Ellis van Creveld syndrome 2 (limbin)
3 / LOC611166 / EVC / Ellis van Creveld syndrome
3 / LOC479116 / PGM2 / phosphoglucomutase 2
3 / LOC479120 / STIM2 / stromal interaction molecule 2
3 / LOC488857 / GBA3 / glucosidase, beta, acid 3 (cytosolic)
4 / CHRM3 / CHRM3 / cholinergic receptor, muscarinic 3
4 / LOC479200 / TARBP1 / Tar (HIV-1) RNA binding protein 1
4 / LOC479214 / PHYHIPL / phytanoyl-CoA 2-hydroxylase interacting protein-like
4 / LOC489013 / MYPN / myopalladin
4 / LOC489036 / CHST3 / carbohydrate (chondroitin 6) sulfotransferase 3
4 / LOC479242 / P4HA1 / procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I
4 / LOC489063 / ZMIZ1
alias RAI17 / zinc finger, MIZ-type containing 1
4 / LOC489077 / BMPR1A / bone morphogenetic protein receptor, type IA
4 / LOC611149 / GDF2 / growth differentiation factor 2 [
4 / LOC611168 / GDF10 / growth differentiation factor 10
4 / LOC489095 / FGFR4 / fibroblast growth factor receptor 4
4 / LOC489112 / STC2 / stanniocalcin 2
4 / LOC611838 / HMMR / hyaluronan-mediated motility receptor (RHAMM)
8 / LOC480295 / SEC23A / Sec23 homolog A
8 / LOC490666 / LRFN5 / leucine rich repeat and fibronectin type III domain containing 5
8 / LOC480310 / MAMDC1 / MAM domain containing 1
8 / LOC480325 / GNPNAT1 / glucosamine-phosphate N-acetyltransferase 1
8 / BMP4 / BMP4 / bone morphogenetic protein 4
8 / LOC480342 / DHRS7 / dehydrogenase/reductase (SDR family) member 7
8 / LOC480369 / ACTN1 / actinin, alpha 1
9 / LOC483350 / TBC1D16 / TBC1 domain family, member 16
9 / LOC610065 / SLC39A11 / solute carrier family 39 (metal ion transporter), member 11
9 / LOC480465 / PSMD12 / proteasome (prosome, macropain) 26S subunit, non-ATPase, 12
9 / LOC490948 / SOST / sclerosteosis
9 / LOC609296 / CHAD / chondroadherin
9 / LOC480566 / SCPEP1 / serine carboxypeptidase 1
9 / LOC480595 / AATF / apoptosis antagonizing transcription factor
9 / LOC610451 / KSR1 / kinase suppressor of ras 1
9 / LOC480656 / PAFAH1B1 / platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa
9 / LOC491284 / NTNG2 / netrin G2
9 / LOC608303 / C9H9orf116 / chromosome 9 open reading frame, human C9orf116
9 / LOC491336 / OLFML2A / olfactomedin-like 2A
16 / LOC475509 / PTN / pleiotrophin (heparin binding growth factor 8, neurite growth-promoting factor 1)
16 / LOC475549 / ACTR3B / ARP3 actin-related protein 3 homolog B (yeast)
16 / LOC482831 / ChGn / chondroitin beta1,4 N-acetylgalactosaminyltransferase
16 / LOC482844 / SFRP1 / secreted frizzled-related protein 1
16 / LOC475582 / FGFR1 / fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome)
16 / LOC475584 / WHSC1L1 / Wolf-Hirschhorn syndrome candidate 1-like 1
16 / WRN / WRN / Werner syndrome
16 / LOC482891 / MSR1 / macrophage scavenger receptor 1
16 / LOC475621 / FAT / FAT tumor suppressor homolog 1
16 / LOC607328 / DCTD / dCMP deaminase
16 / LOC475639 / NEIL3 / nei endonuclease VIII-like 3 (E. coli)
19 / LOC476101 / UGCGL1 / UDP-glucose ceramide glucosyltransferase-like 1
19 / LOC483876 / TSN / translin
19 / LOC610496 / INSIG2 / insulin induced gene 2
19 / LOC476127 / RAB3GAP1 / RAB3 GTPase activating protein subunit 1 (catalytic)
19 / LOC476136 / LRP1B / low density lipoprotein-related protein 1B (deleted in tumors)
19 / LOC476140 / ACVR2A / activin A receptor, type IIA
19 / LOC476151 / FMNL2 / formin-like 2
22 / ATP7B / ATP7B / ATPase, Cu++ transporting, beta polypeptide
22 / RB1 / RB1 / retinoblastoma 1 (including osteosarcoma)
22 / LOC476931 / EPSTI1 / epithelial stromal interaction 1 (breast)
22 / LOC609613 / LECT1 / leukocyte cell derived chemotaxin 1
26 / LOC477520 / GIT2 / G protein-coupled receptor kinase interactor 2
26 / TFIP11 / TFIP11 / tuftelin interacting protein 11
26 / SLC5A1 / SLC5A1 / solute carrier family 5 (sodium/glucose cotransporter), member 1
26 / LOC608008 / PCQAP / PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein
26 / LOC609616 / PRKG1 / protein kinase, cGMP-dependent, type I
26 / LOC610650 / LIPA / lipase A, lysosomal acid, cholesterol esterase (Wolman disease)
29 / ASPH / ASPH / aspartate beta-hydroxylase
29 / LOC486983 / CPA6 / carboxypeptidase A6
29 / LOC487001 / JPH1 / junctophilin 1
29 / LOC487007 / PXMP3 / peroxisomal membrane protein 3, 35kDa (Zellweger syndrome)
29 / LOC477918 / STMN2 / stathmin-like 2
32 / LOC487826 / BMP3 / bone morphogenetic protein 3 (osteogenic)
32 / LOC487840 / CDS1 / CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1
32 / PTPN13 / PTPN13 / protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)
32 / LOC609146 / IBSP / integrin-binding sialoprotein (bone sialoprotein, bone sialoprotein II)
32 / LOC487851 / MEPE / matrix, extracellular phosphoglycoprotein with ASARM motif (bone)
32 / SPP1 / SPP1 / secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)
32 / GPRIN3 / GPRIN3 / GPRIN family member 3
32 / MMRN1 / MMRN1 / multimerin 1
32 / LOC609472
32 / LOC487863 / GRID2 / glutamate receptor, ionotropic, delta 2
32 / LOC478484 / BMPR1B / bone morphogenetic protein receptor, type IB
32 / RAP1GDS1 / RAB1GDS1 / RAP1, GTP-GDP dissociation stimulator 1
33 / LOC606769 / C3orf38 / chromosome 3 open reading frame 38
33 / LOC487930 / EPHA3 / EPH receptor A3
33 / NSUN3 / NSUN3 / NOL1/NOP2/Sun domain family, member 3
33 / LOC487937
33 / EPHA6 / EPHA6 / EPH receptor A6
33 / LOC612796 / ARL6 / ADP-ribosylation factor-like 6
33 / LOC487942 / OLF-Cluster / several olfacoric genes
33 / COL8A1 / COL8A1 / collagen, type VIII, alpha 1
33 / ABI3BP / ABI3BP / ABI gene family, member 3 (NESH) binding protein
33 / LOC478546 / PCNP / PEST proteolytic signal containing nuclear protein
33 / ZPLD1 / ZPLD1 / zona pellucida-like domain containing 1
33 / LRP1B / activated leukocyte cell adhesion molecule
33 / LOC487977 / CD200R2 / CD200 cell surface glycoprotein receptor isoform 2
34 / LOC478610 / TRIO / triple functional domain (PTPRF interacting)
34 / LOC478622 / SEMA5A / sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
34 / LOC609304 / SLC6A3 / solute carrier family 6 (neurotransmitter transporter, dopamine), member 3
34 / LOC607289 / CHRD / chordin
34 / LOC608280 / OSTN / osteocrin
34 / LOC478676 / FGF12 / fibroblast growth factor 12
34 / BCHE / BCHE / butyrylcholinesterase
34 / LOC488167 / PLD1 / phospholipase D1, phosphatidylcholine-specific
34 / LOC488179 / KCNMB2 / potassium large conductance calcium-activated channel, subfamily M, beta member 2
35 / LOC606970 / DUSP22 / dual specificity phosphatase 22
35 / LOC478715 / BMP6 / bone morphogenetic protein 6
35 / LOC478725 / TBC1D7 / TBC1 domain family, member 7
35 / TPMT / TPMT / thiopurine S-methyltransferase
35 / LOC488245 / MRS2L / MRS2-like, magnesium homeostasis factor (S. cerevisiae)
35 / LOC488340 / GABBR1 / gamma-aminobutyric acid (GABA) B receptor, 1

Table S2Amplicons used for SNP (single nucleotide polymorphism) and indel detection in canine genes and adjacent intergenic regions, theircorresponding human genes,their primer pairs, their product size in base pairs (bp), their targets within genes andpolymorphisms identified. Between breed polymorphisms are in italics, polymorphisms within German shepherd dogs are in standard type settings.

CFA / Gene symbol / Conserved synteny to HSA / Canine locus / Canine gene location (Mb) / No. / Forward primer 5’ -> 3’
Reverse primer 5’ -> 3’ / Target / Product size
(bp) / Polymorphism
1 / DAPK1 / 9q34.1 / LOC484142 / 75.335
–
75.504 / 1 / TTCCTTTCCCAGACATTCAG
ATGTAGGGTGATGACGTTGG / intron1/
exon2 / 569 / -
2 / GCTCACTTTCCTCTGAATGC
AACACACAGCCTTTCTCTGC / exon11/
intron11 / 552 / -
1 / GNAQ / 9q21 / GNAQ / 83.898
–
83.997 / 1 / CACAGGGATCATCGAATACC
GCAGACTTGGTGGAAACAAC / exon3/ intron3 / 504 / -
2 / TGGCTAAGGCTGTAGTGAGC
AGTTTGGCATGCTTTCTCTG / intron6 / 527 / -
1 / OSTF1 / 9q13 –9q21.2 / LOC484161 / 86.154
–
86.179 / 1 / GCAGCATACCTCTACCATGC
AAGCAATAAGGCAACACCAC / intron3 / 533 / LOC484161:g.7646G>A
LOC484161:g.7691_7692insA/G
2 / CACATGCCTGCCTAATTCTC
ATCAAGAGAACGGCAAACAG / intron6 / 567 / LOC484161:g.12437T>C
1 / PIP5K1B / 9q13 / LOC476331 / 91.438
–
91.632 / 1 / TCCTTCCCTCTTGGGAGTAG
GCATCATGGAAGAACTCCTG / intron2 / 563 / -
2 / TTGGAAAGAACACCCACTTC
AGGCATGCTAGCAGACAAAC / intron9 / 510 / -
1 / OMD / 9q22.31 / LOC610693 / 101.998
–
102.000 / 1 / GTCGAGCATGTGTCCTTTTC
AACATGGAATCCTCAAGCTG / exon1 / 595 / -
2 / CTGGTCTGCCTTCTTCACTG
TCACTTATAGTCCCAACTACTCAGG / exon1/
intron1 / 519 / LOC610693:g.1107CA>C
1 / OGN / 9q22 / LOC610704 / 102.009
–
102.027 / 1 / TGAGCGTGTAATGCTACCAC
CATGTGAAATGCTGTTCTTTG / exon2/
intron2 / 546 / LOC610704:g.3635A>G
2 / CGTGGGACTACATTGTGTTG
TTCCCTTTTGATGAGGTCTG / intron4 / 503 / LOC610704:g.15197T>C
LOC610704:g.15569A>T
1 / HAS1 / 19q13.4 / LOC611700 / 108.257
–
108.266 / 1 / GAAACTCTGTCCCTTTGCTG
CTGGAATTCTCCTTCTATGTCC / intron1 / 405 / -
2 / GATGACCTATGAGGCAGTGG
CAGTAGAGCGTCAGCATGAG / exon5 / 480 / LOC611700:g.9028C>T
1 / MARK4 / 19q13.3 / LOC484449 / 113.114
–
113.139 / 1 / AGAAGACGCTGTACCTGGTG
TACTTCCCACATGCCTCATC / exon5-intron6 / 499 / -
2 / CCTCATCTGTCATCCTCCTG
AGAAACAGCATCTGCTCTGG / intron11-intron12 / 420 / LOC484449:g.13186C>T
LOC484449:g.13190G>A
LOC484449:g.13222T>C
LOC484449:g.13241A>G
1 / CKAP1 / 19q13.11–19q13.12 / LOC476475 / 119.485
–
119.495 / 1 / GTACGTGCATGTGTTTGTGG
TCCCGGGATTTAAGTCTCTC / intron2 / 476 / LOC476475:g.3966T>C
LOC476475:g.3966_3967insG
LOC476475:g.3980A>G
LOC476475:g.4031C>T
LOC476475:g.4040_4041insA
LOC476475:g.4056T>C
LOC476475:g.4092T>C
LOC476475:g.4160C>T
LOC476475:g.4321T>G
2 / GGGCACCGTCATGTATGTAG
CACCCTTTCTCTCACACAGC / exon5/
intron5 / 403 / -
3 / OCA2 / 15q11.2 – 15q.12 / LOC488683 / 35.209
–
35.443 / 1 / CGGTTTCATGGGTGATAGTC
AGGCAACTCACAAGAAGTGC / intron6 / 592 / -
2 / TGCAACAGAATGTGCTTCAG
GGAAGGGAGCAGGTAATAGC / intron19 / 594 / -
3 / CHSY1 / 15q26.3 / LOC488704 / 42.697
–
42.773 / 1 / CCTGTGTTTCCTGTGAGGAC
GACTCCCTCCCTAAGAGGTG / intron1-intron2 / 581 / -
2 / CTTTGCAATACCTCGTAGCC
CTCGGAGACACTTTCCAATG / intron3/
exon4 / 586 / -
3 / IGF1R / 15q26.3 / IGF1R / 44.652
–
44.948 / 1 / TGTGTTGCATTGAGGATGAG
AGCCTGGAGTGTACAAGTGC / intron2 / 534 / -
3 / IGF1R / 15q26.3 / IGF1R / 44.652
–
44.948 / 2 / ATCATGAGGCTGAGAAGCTG
GGAAGGTGAAGACCCAAGAG / exon16/
intron16 / 524 / -
3 / ST8SIA2 / 15q26 / LOC488722 / 50.457
–
50.518 / 1 / ATGGGATAAGCGGAAGTAGG
AGAGAGAGCGTCTGGTTGTG / intron1/
exon2 / 584 / -
2 / GGAATGGAGATGGGTTCTTC
ACGAGAGAGCCACAGATGAC / intron4 / 560 / -
3 / AGC1 / 15q26.1 / AGC1 / 54.856
–
54.893 / 1 / TGGCTACGAACAATGTGATG
CACATGAAGGCCTATTCCAG / exon7/
intron7 / 559 / -
2 / CACAACAGTCACACCTGAGC
CTCACCAAGGAGTGTCCATC / exon13-exon14 / 515 / -
3 / HAPLN3 / 15q26.1 / LOC609165 / 54.896
–
54.903 / 1 / TGAAGCTGGTGGTAGAGACG
TTAAATGGGGGTGACGATAG / intron1 / 504 / -
2 / CTACCTGGGGGAAACCTTAC
AAAAGCTCAACGGACATGAG / exon2/
intron2 / 557 / -
3 / ARNT2 / 15q24 / LOC608366 / 59.871
–
59.992 / 1 / AATCGTAGGTGTGGAAATGC
TGGGATGAGTATGTGGCTTC / exon6-intron7 / 531 / -
2 / CAGAGAGATGGGTTGTCGTC
TGTGACCATCAAGTCCAATG / exon12/
intron12 / 571 / -
3 / WHSC2 / 4p16.3 / LOC488806 / 64.967
–
64.984 / 1 / TGTCCACCTTACGGAATAGC
CCCAATACAAACACGAGACC / intron1 / 515 / -
2 / ATGCAGAAGTGGTGGAAAAG
CCTCTGCCATGAATACCAAC / exon7/
intron7 / 520 / -
3 / WHSC1 / 4p16.3 / LOC479077 / 64.987
–
65.047 / 1 / AACTTTGCCCAAGTATGCTG
GCAGCTTCTTCAATGACTCC / intron3/
exon4 / 570 / -
2 / GAGTGTTCCCGTACATGGAG
CCCAGAGTAAATGCCACATC / exon14/
intron14 / 504 / -
3 / FGFR3 / 4p16.3 / LOC488808 / 65.130
–
65.142 / 1 / GCTCAGTATTCCTGCTTTGG
AGACCTCATACCTGCAGCAC / intron3-intron5 / 277 / -
3 / FGFR3 / 4p16.3 / LOC488808 / 65.130
–
65.142 / 2 / CTGGTGGGAATACTCATTGC
ACCTGATAGGCACAGGACAC / intron12-exon15 / 595 / -
3 / RAB28 / 4p15.33 / LOC477884 / 69.430
–
69.541 / 1 / ACTGTCCATGGGTGTGAGAG
TTAAAGCCCCAATTGTTCAG / intron2 / 532 / LOC477884:g.5572A>T
2 / CTGCTGAAATCCTTGGAATC
CAGTGGGGGATATTTTAGAGAAG / exon6/
intron6 / 538 / LOC477884:g95359A>T
LOC477884:g.95360A>T
3 / EVC2 / 4p16.2 – 4p16.1 / LOC611156 / 73.637
–
73.764 / 1 / GAGTGTAAGCGGTTTGTTGG
AAGTGTAGCAAGCACCTTGG / intron4 / 562 / -
2 / TAGTCGTCTGTCCCTTCCAC
GATGGCTTTTGGGTCTTACC / intron12/
exon13 / 596 / -
3 / EVC / 4p16 / LOC611166 / 73.765
–
73.829 / 1 / TTCCTGGGAACATTTACTGG
CTAGCGCCTACAACATCTGG / intron3 / 526 / -
2 / TCCTTACTGCCTGGTCTCTG
CTCTAGGACCGCATGAAAAG / intron10/
exon11 / 562 / -
3 / PGM2 / 4p14 / LOC479116 / 77.170
–
77.208 / 1 / TCATTGTATCCTTGGGTGTG
GGTCATGAAGGAGTGGACTG / intron4-exon6 / 507 / -
2 / ACCACTTTGAGCCTTGTTTG
GTTCAACACCCTTTGAGCAC / intron8-intron10 / 587 / LOC479116:g.21668C>T
3 / STIM2 / 4p15.2 / LOC479120 / 86.385
–
86.537 / 1 / AGCATTATCATTTTCCCCTTC
CTGATGACACCTGATTGAAAAG / intron2 / 561 / -
2 / AGAGCTAAGGGAAGGAGCTG
AAGGCTGACATTCCATCTTG / exon5/
intron5 / 562 / -
3 / GBA3 / 4p15.31 / LOC488857 / 89.906
–
90.016 / 1 / CTCTCATTTCAATGGGGTTG
CACACAGGCCAGTAGTGATG / intron1 / 531 / LOC488857:g.7225C>T
2 / TTTGGGTTGGATCTACATGG
CAGCATCTGCTGATTGTCAC / exon3/
intron3 / 511 / LOC488857:g49363A>G
LOC488857:g.49475G>A
LOC488857:g.49504C>T
LOC488857:g.49550A>G
4 / CHRM3 / 1q43 / CHRM3 / 3.506
–
3.520 / 1 / TAGGGCTTCCCTTAGCTCTC
GTCTCTGCACAGCACACATC / intron1 / 595 / -
2 / AGCTGGAATAACAACGATGC
ATGTAGCACAGCCAGTAGCC / exon2 / 599 / -
4 / TARBP1 / 1q42.3 / LOC479200 / 8.390
–
8.440 / 1 / TGATCAGAAGCCGGAACTAC
TCCTCAGCAAGAAAGACAGG / exon5-exon6 / 581 / -
2 / TTCCAGAGCCTCAGTGTTTC
AAGCTGTATTGCGTCAGGTC / exon18-exon19 / 553 / LOC479200:g.49284C>T
LOC479200:g.49334C>T LOC479200:g49435A>T
4 / PHYHIPL / 10q11 / LOC479214 / 14.590
–
14.665 / 1 / CTTAGTGATTTGGGGCTGTG
TGGAAACAAGACCTTTGCTC / intron1 / 560 / -
2 / GAGATCCACCGTTTTGTACTG
GCCAAAGGTCTTTCTTAGCC / intron3 / 542 / -
4 / MYPN / 10q21.3 / LOC489013 / 22.584
–
22.673 / 1 / TTGAAAGGCATTTACATCAGTG
ATCAGCAATCCAATCTCAGC / intron2 / 512 / LOC489013:g.35837T>G
2 / AACAAGGCTCCAGATTTTCC
ACAGCTCCGATTTCAGTGAC / intron11 / 539 / LOC489013:g.66406_66408delGAA
LOC489013:g.66435T>C
LOC489013:g.66521T>C
LOC489013:g.66611G>A
4 / CHST3 / 10q22.1 / LOC489036 / 25.903
–
25.905 / 1 / TTCGAGAAGTACCACTGCAAG
CTTCTGCGTGGAGTAGATGC / exon2 / 531 / -
4 / P4HA1 / 10q21.3 – 10q23.1 / LOC479242 / 26.812
–
26.889 / 1 / AAGGTAAGCCTTGGGACTTG
TCAACCAAGATTTGCTCTCC / intron3 / 536 / -
2 / GCTTTGCATCTCTCTTCAGG
ATAGCACTGGGTTTCACAGG / intron9 / 527 / -
4 / RAI17 / 10q22.3 / LOC489063 / 32.140
–
32.245 / 1 / GTAAAAGGCGTCTCACGATG
CTTTTGACGGAAGTTTGCTG / intron3 / 519 / -
2 / CAGGCAAATAGTCCAGCTTC
TCATCCCTGACCACTCTCTC / intron11-intron12 / 590 / -
4 / BMPR1A / 10q22.3 / LOC489077 / 37.710
–
37.771 / 1 / TCGTGATTTGGAACAAGATG
AAATCAGTGCAACCAAACAAC / intron2 / 540 / LOC489077:g.8700_8701 insT
4 / BMPR1A / 10q22.3 / LOC489077 / 37.710
–
37.771 / 2 / TGAAAATAGGAGTGCATTTGG
TAACTGATGGGACGGAGTTG / exon7/
intron7 / 583 / LOC489077:g.26073G>A
LOC489077:g.26214_26217del
LOC489077:g.26419G>A
4 / GDF2 / 10q11.22 / LOC611149 / 38.190
–
38.197 / 1 / ATTTCCCGAGTTACCCTCAC
CACTGGTCTCTGTCCATTCC / intron1 / 595 / LOC611149:g.5422A>G
LOC611149:g.5708A>C
LOC611149:g.5742A>G
LOC611149:g.5832A>G
2 / CTCCCCACTTGAACACAGAC
CATCTGGGTGATCCGTAGAC / intron2 / 600 / LOC611149:g.3564_3565insA
LOC611149:g.3705G>A
LOC611149:g.3824G>A
LOC611149:g.3962T>C
LOC611149:g.3990G>A
4 / GDF10 / 10q11.22 / LOC611168 / 38.201
–
38.219 / 1 / ATACTGACCTTTGCCCTTCC
GTCAAGTCACCACGAAGCTC / intron3-intron4 / 588 / -
2 / GTGCTGGACTTCGACGAG
ACTAGGTCGGCCCTTCAG / exon7/
intron7 / 506 / -
4 / FGFR4 / 5q35.1 / LOC489095 / 39.435
–
39.445 / 1 / GTGTCAAGGGGTACTTGTGC
AGCTGGGAGGTAGGGATATG / intron2-intron4 / 587 / LOC489095:g2976T>C
2 / ACACACACCAGAGTGACGTG
ATATAGGGGCAGGGTTTGAG / exon15-intron16 / 542 / -
4 / STC2 / 5q35.2 / LOC489112 / 42.344
–
42.354 / 1 / GGGTAGGACTTGTTGCTGTC
CTTTCTCTCCCAGGAGCTG / intron1 / 520 / LOC489112:g.906G>T
2 / ACACCCAGTTGAGAAAGCTG
GGGGTGACACAGAAGAAATG / intron3 / 523 / LOC489112:g.8599T>C
4 / HMMR / 5q33.2 / LOC611838 / 50.941 – 50.989 / 1 / ACCGTCTCCAGGTGCTTATG
CTTGGTTGGTGCTTACACG / exon2/
intron2 / 529 / -
2 / TGGTGCAGTTCTTGACTTCTC
AATCCTGTCACGCATCTCTG / intron9-intron10 / 588 / LOC611838:g.19580A>T
LOC611838:g19786G>A
8 / SEC23A / 14q21.1 / LOC480295 / 20.240
–
20.298 / 1 / CATTCTTGATTCTCGCATTG
GCTGCATAAGGCTTCATTTC / intron2 / 574 / -
8 / SEC23A / 14q21.1 / LOC480295 / 20.240
–
20.298 / 2 / TAGTGGCCAGAGAGATGAGG
CACACATCACAGCAACAAAAC / intron13-intron14 / 544 / LOC480295:g.17217C>T
8 / LRFN5 / 14q21.2 / LOC490666 / 22.591
–
22.596 / 1 / AGGTGCTTTTACCTGCATTG
CCCACAGGTATTCACCTTTC / exon1/
intron1 / 503 / -
2 / TATCAGGAGGTCTGCTTTGC
ACCTTGGTGACCTTGTGTTG / intron1/
exon2 / 583 / -
8 / MAMDC1 / 14q21.3 / LOC480310 / 26.840
–
27.348 / 1 / ATTGGCCTGTAACATTGAGG
CAGAACAAATGCTTCCTTGG / exon5/
intron5 / 512 / -
2 / AATCTTGGGCGACTACAGC
GTTCATTTTCCAACGAATGG / intron14 / 561 / -
8 / GNPNAT1 / 14q22.2 / LOC480325 / 31.997
–
32.011 / 1 / GTGGAGATAATTTGCCTTGG
GTGGGCATTTGTGTTTTCAC / intron2 / 587 / -
2 / GGAGGGTTTAGGGTGAATTTAG
CCACCAGCCCAAAGTAATC / intron5/
exon6 / 600 / LOC480325:g.11882A>G
LOC480325:g.12020_12021insG
8 / BMP4 / 14q22 – 14q23 / BMP4 / 33.027
–
33.035 / 1 / GAATTGCATGATCAGAGACG
TCGCAAATTTGGTTTTCTTC / UTR 5’ / 501 / -
2 / CAGAGCTGCTTACCTCCAAG
CCTTACTCCACCACCATCAG / intron1 / 559 / -
8 / DHRS7 / 14q23.1 / LOC480342 / 38.282
–
38.300 / 1 / GACCTGACCCTGCTGTGG
CAGGCCAGTAATGACCTCAC / exon1/
intron1 / 534 / -
2 / GTGTGCGGCTGATGTTAATC
ACAGTGCTTCCAGAATGAGG / exon6/intron6 / 600 / -
8 / ACTN1 / 14q24.1 – 14q24.2 / LOC480369 / 45.751
–
45.844 / 1 / ATACTTGGGGTCAGTCGTTG
CGATTCAGGGCTTAGGATTC / intron1 / 555 / -
2 / CCATGACCCTACTGTTGAGG
GAACACAGTGGAGCCTTTTG / intron12-intron13 / 572 / -
9 / TBC1D16 / 17q25.3 / LOC483350 / 4.659
–
4.718 / 1 / CTCTGACGCCTTCTCTTCAC
TGGGATGGGTGACAATCTAC / exon3/
intron3 / 409 / LOC483350:g.3897G>C
LOC483350:g.3933C>G
LOC483350:g.3940_3941insG
LOC483350:g.3991T>C
LOC483350:g.4011T>C
2 / GTTCCCTGAGAGGAGGAGAG
TTTACGGGCTGCTAATTTTG / intron9 / 438 / -
9 / SLC39A11 / 17q24.3 – 17q25.1 / LOC610065 / 10.054
–
10.382 / 1 / AGGCTGCATATGCTTCTGTC
TGACATTCAAGGTTGTGGTG / intron3 / 523 / -
2 / GGCTTCTTTCTTCGAGAACC
TGAGTTGAGGGGCAGATTAG / intron7 / 574 / -
9 / PSMD12 / 17q24.2 / LOC480465 / 16.264
–
16.298 / 1 / AGAAGTCATTGAAACCCTTCTC
TGAAGACATGGAGCAAGATG / exon2-intron3 / 503 / -
2 / TGGAAACCTATGGGTCAATG
TGTCACAGTTCGTTTGAGTCAG / exon6-intron7 / 535 / -
9 / SOST / 17q11.2 / LOC490948 / 22.858
–
22.861 / 1 / AGAACGATGCCACAGAAATC
GGCGTATGGTTCAGGTACAG / exon1/
intron1 / 509 / -
2 / AAAACAAAGTCACCCTCTGC
CCATTTTAATGGATCCCTAATG / intron1 / 501 / -
9 / CHAD / 17q21.33 / LOC609296 / 29.723
–
29.726 / 1 / CCTGGTCCATTTCAACTGAG
CCTCCGCTCCCTACTAAAAG / intron1 / 592 / -
2 / TCACTCTCCAGTTCTCAGACG
CTTTCTTGGACCTCTTGGTG / exon2-exon3 / 562 / -
9 / SCPEP1 / 17q22 / LOC480566 / 35.094
–
35.127 / 1 / TTCAGGTAAAAGTGGCTTGG
GGAAGGCTCCTCTGACTACC / exon2/
intron2 / 566 / -
2 / TCTCTTCTTGACGACCAAGG
GCTCAGATGCTGGAGAAAAC / exon8/
intron8 / 525 / -
9 / AATF / 17q11.2 – 17q12 / LOC480595 / 40.094
–
40.203 / 1 / TGGAGATGGAGATTCAGAGG
CTAGATAGGGGAGGCAGGTC / exon3/
intron3 / 528 / -
2 / TTCTAGTCATGCAAAGCAACC
GCCCTTTTTATTTTCCAACC / intron9 / 584 / -
9 / KSR1 / 17q11.1 / LOC610451 / 45.307
–
45.455 / 1 / ACTTTGGCCACTTCTGTGAG
GGATGCAATTTGGGATACTG / intron1 / 529 / -
2 / AAAGCATTGGAAGAATGTCG
CTCTCCCTGCCTTCTAGGAC / intron13 / 539 / LOC610451:g.16607A>G
LOC610451:g.16826_16827T/C
9 / PAFAH1B1 / 17p13.3 / LOC480656 / 49.975
–
50.056 / 1 / TCCCAGAGACAACGAGATG
CAGTGGTCAAATCATTTTATGC / exon1/
intron1 / 537 / -
2 / CCGTCCACCAGAAAAATATG
CCTACATTCCCACATTCCTG / exon4/
intron4 / 513 / -
9 / NTNG2 / 9q34 / LOC491284 / 55.338
–
55.402 / 1 / CAGTCATGGTCCTGGAGAAG
AGCAGCATCTTGGAAAACAG / exon2/
intron2 / 564 / -
2 / ACTTCTGGTACCCCACTTCC
CCTACAGCAGCACACATCAC / intron10 / 545 / -
9 / OLFML2A / 9q33.3 / LOC491336 / 61.535
–
61.565 / 1 / GCGCTGACAGTAAGGTACG
GGTTTATTGGGTGGGAACTC / intron2 / 550 / -
2 / GTGTGGCTCCCAATTCTTC
AGAGGATGAAGCCCTTTGAC / intron6 / 546 / -
16 / PTN / 7q33 – 7q34 / LOC475509 / 14.234
–
14.334 / 1 / GACATGGGGAAATTTGAATC
GCCAATCTGTGCATTAGACC / UTR 5’ / 526 / LOC475509:g.9586A>C
LOC475509:g.9851A>G
2 / GCATATGTTAATGGGTCATGC
ATTTGTTTTGGTTCCCCTTC / intron3 / 548 / LOC475509:g.80093A>G
LOC475509:g.80254G>A
LOC475509:g.80260C>T
LOC475509:g.80490G>A
16 / ACTR3B / 7q36.1 / LOC475549 / 19.380
–
19.506 / 1 / AACAAGATCTGCTCCTGTGG
CAGGCTCAGCTCGAAGATAC / intron3/
exon4 / 506 / -
2 / AATACTGCCACCTCATGTGC
TGCCACTTCCACCAGAATAC / intron8 / 547 / LOC475549:g.94689T>C
16 / ChGn / 8p21.3 / LOC482831 / 25.176
–
25.262 / 1 / CTGTGAGTGTTGCTGTCAGG
ACCTAATTGCCTCCTCTTGC / UTR 5’ / 565 / -
2 / CCTCTGAATTCCTCAACACG
GTGACTTCACGCAGCAGTAG / exon3/
intron3 / 536 / -
3 / TTTAATGTGGGAGCATTTGG
TCGGAAGGTAAATCTGCTTG / UTR 5’ – intron1 / 569 / -
16 / ChGn / 8p21.3 / LOC482831 / 25.176
–
25.262 / 4 / TGGACAGAGCCTTTCTTCAG
GTCATTCGGTCATTCAGGAG / intron4 / 576 / -
16 / SFRP1 / 8p12 – 8p11.1 / LOC482844 / 27.152
–
27.257 / 1 / CTGTTGGAATCAAGGTGCTC
AGGTAGAAGACGCTGCATTG / UTR 5’ / 503 / -
2 / GTGGATGCATCTCTTTGGAG
CCTTCTCCTGGGGCTATAAG / intron2 / 544 / -
16 / FGFR1 / 8p11.2 – 8p11.1 / LOC475582 / 29.985
–
30.032 / 1 / AGGTTGGCTGTCTACTCTGG
CCTCCTCATACCCCCTCTAC / UTR 5’ / 519 / -
2 / CATCTCACTTTGTCCCTTGG
ATGCCTGGTCACTGCTTATC / intron9-intron10 / 530 / LOC475582:g.43133C>T
16 / WHSC1L1 / 8p11.2 / LOC475584 / 30.060
–
30.174 / 1 / TGCTTTCCTTTGACCTTCAC
GTGGGAGTAATTTGGACTGG / UTR 5’ / 525 / -
2 / AGAGAGAACGTGCTCAGTGG
TGACTTTGTGCTGTTTGTGG / exon5/
intron5 / 587 / -
3 / AGATTTAGGGCATTGGGAAG
TACAACTGAGGGCTTTCTGG / intron16-intron17 / 527 / -
4 / ACAATGCTTTGCCTGATTTG
TCTCTCCAGCAGGAGGTAAG / intron9-intron10 / 528 / LOC475584:g.37907G>T
5 / GATCACCATCTCTCCGTCAC
CTGAAAATGTCAATCTCTCAGG / intron12-intron13 / 511 / -
16 / WRN / 8p12 – 8p11.2 / WRN / 36.120
–
36.258 / 1 / GGCATCGATTCAGAAGAGTG
GCAACAGAGTTGATCACAACC / exon7/
intron7 / 584 / -
2 / TGAAGAGCAGGAGACTCAGG
TTGATGGCTGAACACAGTTG / exon32-intron33 / 591 / -
16 / MSR1 / 8p22 / LOC482891 / 42.395
–
42.461 / 1 / AGACTCACAAGGGAAACGTC
AACATGTGGCCATATTCCTG / intron2 / 507 / -
2 / GTTGATGGATTGCTGACCTC
GGAATCACGCTAAAGTGCTG / intron7 / 561 / LOC482891:g.28625A>C
16 / FAT / 4q35 / LOC475621 / 47.090
–
47.204 / 1 / CCTGCTTGTAAGTGGGTAGC
GGACAGCGAAGACTGGTAAG / intron2 / 501 / -
2 / AGTTCAGGCGTCTGATAACG
GAGAAGAGAAAGGGGTGGAG / exon16/
intron16 / 539 / -
16 / DCTD / 4q35.1 / LOC607328 / 50.313
–
50.338 / 1 / CGCTCTCGACTTCTTGTACC
CCATTTGTGGACTCTCCTTG / intron1-intron2 / 513 / -
2 / GACGGGATCTCAAGATGATG
GAGCTCAAGAGATTCATTACACG / intron4 / 530 / -
16 / NEIL3 / 4q34.3 / LOC475639 / 55.353
–
55.441 / 1 / CGAACAGGATTCTTCATTGC
GGCTTTATATGCCAGACACC / intron2 / 547 / -
2 / AGAGGTGGATCTGCAGTTTG
CCATTTGGGGAGAATGTTTC / intron5-intron6 / 570 / -
19 / UGCGL1 / 2q14.3 / LOC476101 / 25.436
–
25.556 / 1 / GGGCTCAAGAACTATTTTGG
TTCTGCTGTAGAGGGGACAG / intron4/
exon5 / 533 / -
2 / TTGCAAGCGAAACTATCCTC
GGATCAACGATGAAAACCTG / intron15/
exon16 / 572 / -
19 / TSN / 2q21.1 / LOC483876 / 31.489
–
31.507 / 1 / TACAGCACCAACAACTCTGC
CGGCTTCCGTGTTTGTTC / exon3 / 542 / -
2 / TCTCAGTGGTATGCAGTTGG
ACTGTTCAGCAGGGAACTTG / intron5/
exon6 / 511 / -
19 / INSIG2 / 2q14.1 / LOC610496 / 34.824
–
34.836 / 1 / TGAAGGCTTGAAAGATGGAG
AGAAGCCACACTGAAACCTG / intron1 / 586 / LOC610496:g.1637C>T
2 / AAGCACTCAATTCCCCTCTC
GCTTACCATTGCCAGTTGTC / intron2-exon4 / 584 / -
19 / RAB3GAP1 / 2q21.3 / LOC476127 / 40.883
–
40.978 / 1 / GAATGGGAAATGATTTGCAG
CAGTGGAGGAAGAGAATTGG / intron3 / 519 / -
2 / ACAGGTAAGGATTTCCCAATG
TTCTTGCCACTCTCTTGTCC / intron16/
exon17 / 501 / LOC476127:g.64687T>C
19 / LRP1B / 2q21.2 / LOC476136 / 45.627
–
46.660 / 1 / TGGCAATGAACTCAAAACTG
GCATGGCCTCTGACTACAAC / exon7-exon8 / 517 / -
2 / TTTTGCTCTTGGCTTCATTC
CCTTTCTCTGGGTGCAAAG / intron34/
exon35 / 573 / LOC476136:g.525682insG
19 / ACVR2A / 2q22.3 / LOC476140 / 52.664
–
52.746 / 1 / ACATTATTCCCTCCCAAACC
CTTCCAGCATGCCAGATTAC / intron1 / 524 / -
2 / GATTGGCTTATTTGCACGAG
TTTTCCCTTTTGTGGTTCTG / exon9/
intron9 / 576 / LOC476136:g.72096T>G
19 / FMNL2 / 2q23.3 / LOC476151 / 56.553
–
56.674 / 1 / TCAGAATAGCTCACCCATCC
CGTCGGAACTCACATAAACC / intron4 / 534 / LOC476151:g.3052T>C
LOC476151:g.3310G>A
LOC476151:g.3334C>T
LOC476151:g.3358T>G
2 / CTCCTCTGCTCTTTCACTCG
AAAGGCATGTGCTACTCAGG / intron22-intron23 / 513 / -
22 / ATP7B / 13q14.3 / ATP7B / 3.168
–
3.338 / 1 / ACAGCAACCATGTTGGAAAC
GCTGGAGGGAAACTAGAGATG / exon2/
intron2 / 549 / -
2 / AGAGGCTCAGATGTCAAAGG
ACGATTTTGCTGCCAATAAG / exon10-intron11 / 512 / -
22 / RB1 / 13q14.2 / RB1 / 6.005
–
6.147 / 1 / GATGCCATTCACTTTTACCG
TGCTCCAAGATAAAGTTCAGG / exon3/
intron3 / 591 / -
2 / AATTTGTGGCTTTGAAGTGC
TGCTCTCTTAATGCCTGACC / intron23 / 583 / -
22 / EPSTI1 / 13q13.3 / LOC476931 / 10.826
–
10.898 / 1 / TGAGAAGTGGAAGGAGCAAC
GGCCCAAAGGTCTCTCTATC / exon2/intron2 / 563 / -
2 / CGTGAGGATCTCAGGAGAAG
AACAACCAATGTTAAAGAAATGC / intron8 / 509 / -
22 / LECT1 / 13q14 – 13q21 / LOC609613 / 12.693
–
12.739 / 1 / GAGGGCCTTCATCAAGTATG
GGTAAGAGGGGAGTGGAGAG / intron1 / 553 / -
2 / GAAGCCAACGTATCCAAGAG
GAGCCAGAGCCACAGAGTAG / exon4/
intron4 / 540 / -
26 / GIT2 / 12q24.1 / LOC477520 / 20.196
–
20.241 / 1 / CAAGTCAGTGGCTTCTCCAG
TTGATCCAGCAGTTTTAGGG / intron3-intron4 / 586 / -
2 / TCTGCCACTCCTAGTGAAGC
AGTAACGGACCCCCAACTAC / intron15 / 556 / -
26 / TFIP11 / 22q12.1 / TFIP11 / 23.206
–
23.221 / 1 / TGGTTCGTATGACCCTTTTC
CAGCCTGTTTGTTTGTAGCC / intron2-intron3 / 515 / -
2 / TTCTTGGTTTCTTCGTTTCG
ATGGCACTTCTTGGATTGAG / intron8-intron9 / 534 / -
26 / SLC5A1 / 22q13.1 – 22q12.3 / SLC5A1 / 27.914
–
27.986 / 1 / GGAGCATTCAACAAATCCAC
TCAACTGTTCTCCCAGTTCC / intron2 / 530 / -
2 / TGTGTGGGTACATGAAGCTG
AAATGGCAATGCTGAAGAAG / exon9/
intron9 / 569 / -
26 / PCQAP / 22q11.2 / LOC608008 / 33.365
–
33.434 / 1 / GATTTCCGCTGTGTGAGTTC
CTCAGTGCTCAGAGCTTTCC / intron2 / 591 / LOC608008:g.24319_24320insG
2 / CTCGTGTAACCCACACACAG
CCCCAGCAGACACATCTAAG / intron10-intron12 / 588 / -
26 / PRKG1 / 10q11.2 / LOC609616 / 38.807
–
39.109 / 1 / TTACCTTGTTTGCTCCTTGC
TGATGGAGTTTTACCCAAGC / intron3 / 541 / -
2 / CTTGGTAGGCAATGTCATCC
CCAATGGAAGGCCATAACTC / intron11 / 524 / LOC609616:g.285681T>G
LOC609616:g.285832T>C
LOC609616:g.285849A>T
26 / LIPA / 10q23.2 – 10q23.3 / LOC610650 / 41.959
–
41.983 / 1 / AATGCCAAGCAGAAATAACG
GAGGGCTGGTAGAGAACTGG / intron4/
exon5 / 550 / -
2 / ACGTATTCTGCGTGTGTGTG
CTCAAAGCTGCTCCAAAATC / intron6-intron7 / 536 / -
29 / ASPH / 8q12.1 / ASPH / 14.970
–
14.997 / 1 / CATGGAGGACACAAAAATGG
CCAACAAAGATGAAGGGTTG / exon2/
intron2 / 569 / -
2 / TTGCTCTCTTGCCTATGAGC
CATTGGCTAAAACCAGATGC / intron4 / 581 / -
29 / CPA6 / 8q13.2 / LOC486983 / 19.917
–
20.006 / 1 / ATCTGTGGATTTTGCATTCC
GGTATGATGGCAGCAGAGAC / intron4 / 565 / -
2 / CTGTGAATGCACTTCAGTCG
GGGGAAATTCAGTTGAAGG / exon8/
intron8 / 510 / -
29 / JPH1 / 8q21 / LOC487001 / 25.691
–
25.785 / 1 / CCATGAGCAGAATCAGTTCC
TGGCAGTTGTAGAGGCTACC / exon2/
intron2 / 522 / -
2 / AGCTGTCGCCTGACTTCTAC
CCATGACTTGGATTTTCCTG / exon3/
intron3 / 530 / -
29 / PXMP3 / 8q21.1 / LOC487007 / 27.944
–
27.960 / 1 / ATCCCTCTTTGATGCATGTC
GAGTATTGTCAAGGGCCTGTC / intron1 / 589 / LOC487007:g.5654T>C
2 / CAGTCCGGCAGTAATTTGAG
GCAGTCATTTCAAACACACG / intron3 / 527 / LOC487007:g.13368C>A
29 / STMN2 / 8q21.13 / LOC477918 / 30.055
–
30.105 / 1 / ACCTTCTGGGAATTCCTGTC
CCATCAGGATGGTTCTCAAG / intron1 / 567 / LOC477918:g.24700T>G
2 / GCAACATGGTAGAGGAATGG
AGCAGTAGAGCCCACACAAG / intron4 / 559 / LOC477918:g.39859C>T
LOC477918:g.40215T>C
32 / BMP3 / 4p14 – 4q21 / LOC487826 / 8.170
–
8.196 / 1 / TTTACCCAAAGGCAGATGTC
GTACAGAAACCGGGTCAGTG / intron1 / 507 / LOC487826:g.2591G>A
2 / AAGGTGATTTTGGAGGGAAC
TGTATGGCAGAGATGCACAC / intron2 / 533 / LOC487826:g.19466C>T
32 / CDS1 / 4q21.23 / LOC487840 / 11.311
–
11.376 / 1 / GTGGCTGCAAATGTAGAAGG
GGAAGCATTTCACTTGGATG / intron3/
exon4 / 596 / LOC487826:g.31459A>G
2 / GCAGTGTTGAGACGGGTAAG
GTTCTATTGGGCAGCATGTC / exon10/
intron10 / 563 / LOC487840:g.56856G>A
LOC487840:g.56920G>A
LOC487840:g.56938A>T
32 / PTPN13 / 4q21.3 / PTPN13 / 13.142
–
13.289 / 1 / GATGAATGTTGGGCTGTTTC
TGAAATGGCATTAAGTATTTGC / intron3 / 534 / -
2 / ATCCTTCATCCCAAGTACCC
AGTTCTCAAGCATCTCTCTGG / exon19/
intron19 / 511 / -
3 / TGTAAGCGCTCTCCAAATTC
TTGTATTGCACGAGTCATGG / intron1 / 509 / -
32 / PTPN13 / 4q21.3 / PTPN13 / 13.142
–
13.289 / 4 / AGTGTTCTGCTGGAGGTTTG
TTGTTTGTTTTGCACAATGG / intron6 / 502 / LOC403662:g.51924A>C
LOC403662:g.52006T>C
32 / IBSP / 4q21 – 4q25 / LOC609146 / 14.148
–
14.161 / 1 / TCGAAGAGCCAAATTAGAGG
TGACAGTGGCCTTATCACTG / exon4-intron5 / 542 / LOC609146:g.2956G>A
LOC609146:g.3158C>T
LOC609146:g.3177T>C
32 / IBSP / 4q21 – 4q25 / LOC609146 / 14.148
–
14.161 / 2 / ATTTTCCCAGGCAAGTTCTC
CTGCTACCATTGCCATTTTC / intron7/
exon8 / 566 / LOC609146:g.12371A>T
32 / MEPE / 4q21.1 / LOC487851 / 14.170
–
14.183 / 1 / AACTGTCTGTTTGGGACTGC
TAGCACGATTTCAGTGTTGG / exon1/
intron1 / 550 / -
2 / AACCAAGGATGACTGTGTGG
GTTGGCAGTTTTTACCTTCG / exon2/
intron2 / 547 / -
3 / TCAAGAGCCAGCACCTAAAG
TGGGTGCTTTTGCTTTTAAC / exon3 / 477 / LOC487851:g.11646A>G
32 / SPP1 / 4q21 – 4q25 / SPP1 / 14.312
–
14.323 / 1 / CCTGGAGGAAAGGTAACTGG
CAGCGTGCATTTTAAGTGTG / intron2 / 521 / LOC475582:g.43133C>T
2 / ATGGATGCTCCAATCTTCTG
CAGTGGGAAAATCAGTGACC / intron5/
exon6 / 535 / -
32 / GPRIN / 4q22.1 / GPRIN / 15.461
-
15.495 / 1 / TCGTCATTACTGGTGACGTG
CCACACATGGAGCTATAGGG / intron1 / 593 / -
2 / TACCTGACCCTTTGAGATCG
CGTTTCCTGGATTGTTTCTG / intron1 / 581 / -
3 / TCCAGGAAGGGGAATATAGG
GGCTCCAGATTCAAAAGTCC / intron1 / 535 / -
4 / TATCCCTTTTCTCCCACTCC
GAGGTGATTATGCCTGGATG / exon3 / 597 / LOC487856:g.11984T>C
LOC487856:g.12114A>G
LOC487856:g.12125C>T
32 / MMRN1 / 4q22 / MMRN1 / 16.085
-
16.143 / 1 / GCTGCGGCTAATAAGAACTG
TAAAAGTGAAGAGCGGGATG / intron3 / 590 / -
2 / TTGGTTGGTTGGTTGTTTTC
ATAAATGGCTTTGGGCTTTC / intron5 / 515 / -
32 / MMRN1 / 4q22 / MMRN1 / 16.085
-
16.143 / 3 / CCAGTTGAATCCAAGAGCAG
GCCAACGTATCCTTGAGTTG / exon1/
intron1 / 536 / -
4 / TTCCAGATTTAAGGCACTGG
TTTGCCCAAGTTCAAGAAAG / exon6/
intron6 / 539 / -
32 / intergenic / 4 / BICFPJ134187 / 17.071 / 1 / GGACTGGCAAGATTTCTGAC
AATGTATAAAATCTGCATGACACTC / intergenic / 506 / -
32 / intergenic / 4 / BICFPJ191586 / 18.115 / 1 / TTTGGCTTAGGTGTGTTTGC
CAAATTGCTTCAGGGCAAAT / intergenic / 480 / -
32 / GRID2 / 4q22 / LOC487863 / 19.038
–
19.719 / 1 / ATTCTGTGATGTGGGCAGAC
AGGCATCGCAATTCATTAAC / intron5 / 529 / -
2 / AGTTGGCAGAGTGCTTATGG
TCTCTCATGCAGATTGATGG / intron12 / 544 / -
3 / TGCTACAGATGGACCGTTATG
TGCTTGGTGTACCATGTTTG / exon1/
intron1 / 589 / LOC487863:g.200A>G
LOC487863:g.203A>G
LOC487863:g.434T>G
4 / TGGTCCTTGTTGCTTCTTTC
GGCACATGCCACTTTCTAAG / intron14 / 562 / LOC487863:g.677684A>T
5 / TTTTTGCATGTTCCACCTTC
AATTTTGTTGGCAAATCCAC / intron1 / 544 / LOC487863:g.2617A>G
6 / ACTGTCTGGTGGGAGTTGAG
CCACTGAATTGTGTGGACTC / intron7 / 533 / -
32 / intergenic / 4 / BICFG630J642341 / 20.485 / 1 / AAGCTTGGAGCCATTGCTTA
TTGCCTCCATTTCATTCACA / intergenic / 682 / BICFG630J642341
32 / BMPR1B / 4q22 – 4q24 / LOC478484 / 20.901
–
20.941 / 1 / TTGTTGAACTGCAAAAGCTG
AGCATGAAGCCACAGATGAC / intron2-intron3 / 510 / LOC478484:g.7484C>A
LOC478484:g.7608T>C
2 / TGTTGATGCAATCACAGTCC
TTGGGCAAGCTCAATATTTC / intron8 / 596 / LOC478484:g.35235T>C
32 / intergenic / 4 / BICFG630J643894 / 22.094 / 1 / TTTTGTCACATCCCCATTTG
TATCGTTGGCCCTCATTTTG / intergenic / 551 / BICFG630J643894
32 / RAB1GDS1 / 4q23-q25 / RAB1GDS1 / 23.457
-
23.610 / 1 / AACTGGCCACCTATTGTTTG
GCAGCAAATTAAAGCAGGAG / intron2 / 531 / -
2 / TCTTCAGTTGAGGTAAGATAATGG
AAGAATAGGACTGGGGATGG / intron9 / 502 / -
32 / RAB1GDS1 / 4q23-q25 / RAB1GDS1 / 23.457
-
23.610 / 3 / ACCCCTGTCGTAATCTCCTC
CCTTGAAACACGGGTAAATG / UTR 5’ / 559 / LOC487868:g.1264G>T
4 / CTTCATTTGGGACATCTTGG
TCGCAGGTTTTGGAATAATG / intron4 / 529 / -
33 / C3orf38 / 3p11.2 / LOC606769 / 3.016
-
3.021 / 1 / ATTTAGGTCCATTGGCCTTC
TAACTGGCTCTGGTGTTTCC / intron1/
exon2 / 555 / -
33 / C3orf38 / 3p11.2 / LOC606769 / 3.016
-
3.021 / 2 / TTCCTGACCCACACAAAAAG
CCAGCAACTCCAACCATAAC / intron3/
exon4 / 506 / -
3 / GAGCCTCGTAGGTCAAACAC
TGCCAAGTGAAATAAACACG / intron1 / 173 / -
4 / CCCTAAATCATAGTTCTGTGTAAACTC
CCTGATGTGAAAGGAAATGC / intron2 / 514 / -
33 / intergenic / 3 / BICFPJ726588 / 3.037 / 1 / ATTGAACGGTCAAACTGAGG
GCCCACATTAAGAACCAATG / intergenic / 542 / -
33 / intergenic / 3 / BICFPJ571177 / 3.056 / 1 / AATTCCTCCTGTCCTTCACC
CACTGTTGTCACCACAAAGG / intergenic / 412 / -
33 / EPHA3 / 3p11.2 / LOC487930 / 3.787
–
4.091 / 1 / TTCCCACCTACCACATAAGC
GCCTATCGCCTAGCCTATTC / UTR 5’ / 528 / -
2 / TGGAGCAACAGTGAGATGTG
GCATGGGAAATTCAATAACG / UTR 5’ / 527 / -
3 / TGTGTGCGTGTCTCTTTACC
CACGTCTTGGTTCCAGTCTC / intron10 / 515 / -
4 / GGCCTGTTAATGATGAGTGG
GCTGTGTGGGCGATATTTAC / intron5-intron6 / 559 / -
5 / CCACTTCCCCTCTCTCTCTC
CAGTTTTCTCCAGTTGTCAGG / intron12-intron13 / 547 / LOC487930:g.285154A>G
6 / TCGAAACATGTGCCAAATAG
ATGGTAATCAATGGGCTGTC / UTR 5’ / 528 / -
7 / GCAGCTTCCATTACACTTGG
TGTTCAAGGCCTCTGTTAGC / UTR 5’ / 504 / LOC487930:g.115884A>C
33 / NSUN3 / 3q11.2 / NSUN3 / 4.776
-
4.828 / 1 / AAATTGCTTCTGCCTTTGTG
GGCTGAGAGTTACCACTTCG / intron2 / 544 / -
2 / CAGAGGATTTTGGGACATTC
AAGGTATAGCCACAGCAAGG / intron5 / 579 / -
3 / AGCAGCTTTTTCTTGTCGTC
GAAAGTGGATGCTCCTCTCA / intron1-intron2 / 508 / -
4 / GCCTTATGGTTCATCACAGC
TATCTCCTCTCCACCAGCAG / intron5 / 600 / -
33 / intergenic / 3 / BICFG630J650932 / 4.945 / 1 / CTTTCAGCTCTGAGGCTGTC
TTACCTGGGCTACGTGAGAG / intergenic / 596 / -
33 / intergenic / 3 / LOC487937 / 5.723
-
5.766 / 1 / ACCATTACCCTTTTCCTTGC
GCTGCTGACCTCTTGCTATC / intron2 / 527 / -
2 / ATGTTGAAATTTTGCCATGC
TGGATCAGAAACCCTGACTC / intron3 / 573 / LOC487937:g.41644C>T
3 / TTGAAAAGGTGGTCCTTCAG
TTTACTGGCCTTGTGATTCC / intron2 / 525 / -
4 / TCCACGGAACACACATACAG
TTTCAAATAACGGGCTTAGG / intron3 / 559 / -
33 / intergenic / 3 / BICFPJ1290608 / 6.023 / 1 / AGCAAACACCATGGGAACTA
ACCATTTGAAAACGGTGAAA / intergenic / 474 / gnl|ti|276391719:g.417T>A
gnl|ti|276391719:g.476G>C
33 / intergenic / 3 / BICFPJ818404 / 7.006 / 1 / GGGATGTAGGCAAAGACTTG
CAGGCACACTAATTGCATTG / intergenic / 646 / BICFPJ818404
33 / EPHA6 / 3q11.2 / EPHA6 / 7.019
-
7.755 / 1 / AAAGCATTTGCTGGAAACAC
TCTGCAAAGCAATAGCACAG / exon5/
intron5 / 575 / -
2 / GTTTCCAGGTTTGTTTGTGG
TTGTTAATTCAGAGGCTCACG / intron10 / 501 / -
3 / TGGTTTTGCACTTAGTCTGATG
AACTCCAGGGAGAGAACTGG / intron2-intron3 / 507 / LOC607935:g.2901T>C
4 / CTACACATGCCTGATGGATTC
CGAATGATATTTGGGTGGTC / intron11/
exon12 / 564 / -
33 / ARL6 / 3q11.2 / LOC612796 / 7.769
–
7.808 / 1 / ACTTTGAAAACGATGGTTGG
TTGGCCACTTGTAATCTTGG / intron1 / 540 / -
2 / CCTCTCTCCCTCTTGTTTCC
CAGAACTTGGTTTCATTCACG / intron7 / 548 / LOC612796:g.34565T>G
33 / OLF Cluster / 3 / LOC487942 / 8.065
-
8.132 / 1 / AAGCTCTGTGTGAAGCATCC
CCTGATAACAACAGCGTGTG / intron3-intron4 / 533 / -
2 / GGGCTCACCACAGAAATATG
GTTGGGCCTACAATGATTTG / intron8 / 519 / LOC487942:g.60876A>G
LOC487942:g.60925G>T
3 / GCTTCAGTGCTGTGTGTTTG
TGGAAGGGGAAATTAAAACC / intron2 / 525 / -
4 / ACAATGCCCAGTAGAACAGC
GTGACAAGCATCCAGAATTG / intron4 / 560 / -
5 / CTTGATTTCCATTGGGACAG
AGGTACCCAAGATGGGAGAG / intron9/
exon10 / 544 / -
6 / GCTTCAGTGCTGTGTGTTTG
TGGAAGGGGAAATTAAAACC / intron2 / 526 / LOC487942:g.2821C>A
33 / intergenic / 3 / BICFPJ7528 / 8.514 / 1 / AGAGCTACTGACACGCAAGC
GGAGCCCTAAGGTCATCTTC / intergenic / 255 / -
33 / intergenic / 3 / BICFPJ303355 / 9.008 / 1 / GTCCTCTTCCAAGGATCACA
TCCATCAATACTTTTTGCCTTT / intergenic / 285 / -
33 / intergenic / 3 / BICFPJ1522227 / 9.332 / 1 / AAGTGGCCACAGTTCTCAAG
ATTAGGGGGAGCTTGAGATG / intergenic / 321 / gnl|ti|293534224:g.598A>C
33 / COL8A1 / 3q12.3 / COL8A1 / 9.364
-
9.396 / 1 / TATCCACGATGTTCCAAAGC
TTTCTCTGGGTTTGCTGAAC / intron1 / 583 / LOC487950:g.3682A>G
2 / GAGTGCTGCTTACCATTTCC
GGTTTGTGCCATATAATGCTG / exon3/
intron3 / 532 / -
3 / TGATGCTTCTGCTCTCATTG
CATAAGAAGCCTGAGGCAAG / intron1 / 540 / -
4 / GAAGCAAAAAGGAAGGGAAC
GTGGAAGAATGGTTCAATGC / intron1 / 534 / -
5 / CCTGTTGTAATGGCTCAGTG
AGAGGTAGGAGCCAGTCCAG / intron1 / 511 / -
33 / COL8A1 / 3q12.3 / COL8A1 / 9.364
-
9.396 / 6 / TCTCATGGCTCTGACTTTCC
TGCTCTTTTCCAGGTTTTTG / intron1 / 505 / -
33 / ABI3BP / 3q12 / ABI3BP / 10.282
-
10.516 / 1 / TTCCCATGTGTAACCCTGTC
TCACCTCTTAGGGAAAGGAAG / intron3 / 502 / LOC478544:g.60932C>T
2 / GCACCTATGACCAAATCCAC
AGAGGGAAAGAGAGCGAGAG / exon7/
intron7 / 565 / -
33 / PCNP / 3q12.3 / LOC478546 / 10.976
–
10.993 / 1 / GCGATCAGCTGAAGAAGAAG
AGCTCCAAAGTAACCAGGAAG / exon2/
intron2 / 546 / -
2 / ATGCGGATGAAGAATATTGG
ACGCCTGCATATGGACTTAG / exon4/
intron4 / 558 / -
3 / GCTCACCAGTCTTTTTGGAG
GGGCTTTTAATCAAGAACTGC / intron1 / 546 / -
4 / AGATGGGAGGGTTTTGTTTG
TGATTCGGTTCTCTGGTCTC / intron2 / 577 / LOC478546:g.7346T>C
LOC478546:g.7540G>A
33 / intergenic / 3 / BICFPJ518789 / 11.012 / 1 / GCATGCTCATTCACAGTTTG
GGAGGTTGGTAGCATGTTTG / intergenic / 298 / BICFPJ518789
33 / ZPLD1 / 3q12.3 / ZPLD1 / 11.631
-
11.694 / 1 / AACAATTGGAGTGCTTCTGG
AATATTGATGGTTGCCATGC / intron2 / 576 / -
2 / GGAGGAAGGCTGTGTATTTG
GCAGAAAGAGGCAAGCATAG / intron6 / 501 / -
3 / AGAGATTTTCAGCAATGTCCTC
AGACAAAACACAGCAAACCAG / UTR 5’ / 524 / -
4 / CAGCACATTTGTTTTCATTCC
CAGTCACAAAAGCACAGCAC / intron2 / 543 / -
33 / intergenic / 3 / BICF234J36732 / 11.995 / 1 / CTGCTCAAATCTTGCCATCT
CTCTCACACTTGGCACCTTT / intergenic / 373 / -
33 / ALCAM / 3q13.1 / ALCAM / 14.181
–
14.238 / 1 / AACCTTTCAAGTCCGAATCC
GACTGTCAGCCTGTTTGCTC / intron5 / 568 / LOC478550:g.12520G>A
LOC478550:g.12668G>A
LOC478550:g.12731G>A
LOC478550:g.12900G>A
33 / ALCAM / 3q13.1 / ALCAM / 14.181
–
14.238 / 2 / TCTTTGTAGGGAAGCTCACG
GACAACACCAGCAACTAGGG / intron11-exon13 / 594 / -
33 / CD200R2 / 3q13.2 / LOC487977 / 20.376
–
20.399 / 1 / TAAAACAACCGAAGCAGTCC
CATCCAAGATCCATTTTCTCC / intron1 / 597 / LOC487977:g.2545_2546insG
2 / TGATCAGAACTTTGCCCTTC
CACATCCTCCATTTTCGTTC / exon4-intron5 / 561 / LOC487977:g.19019C>T
34 / TRIO / 5p15.1 – 5p14 / LOC478610 / 3.280
–
3.512 / 1 / AATGGAAGACGTTCTCATGC
AGGGGAAAGACAGAAGGAAG / intron12-intron13 / 539 / LOC478610:g.90754C>T
2 / TCAGGCTCAGAGTTGTAGGC
TGGTTTCAAAGCACACACAG / intron21-intron23 / 595 / -
34 / SEMA5A / 5p15.2 / LOC478622 / 7.788
–
8.086 / 1 / TGGGCATCATCCTGATTTAG
TTGAAGAACTTGTCCCAAGC / intron3 / 517 / LOC478622:g.62478A>G
2 / TGGCTCTCATCTTGGAGAAG
AGCATCGTCAAATTCTCTGC / intron22 / 583 / -
34 / SLC6A3 / 5p15.3 / LOC609304 / 14.217
–
14.248 / 1 / CTCCTGTGGAGTGAGTCCTG
GAAATCCCTCCTTTCCTGAG / intron4 / 593 / -
2 / GCCTCTACTGGAGGGTGTG
AACTCTGCAGGTCCAGACAC / exon12/
intron12 / 577 / LOC609304:g.28931G>A
LOC609304:g.29157A>G
LOC609304:g.29178A>G
34 / CHRD / 3q27 / LOC607289 / 20.263
–
20.271 / 1 / AGCTGCAAGAACATCAAACC
CTAGAGCGCAGCAGAGAGAC / exon3-exon5 / 535 / LOC607289:g.1553C>T
2 / TGCCTTCACTCTTTCTTTGG
GTTCTCATCCTTGAGCCTTC / intron17-intron19 / 587 / -
34 / OSTN / 3q28 / LOC608280 / 26.085
–
26.111 / 1 / ATGTGAGGACATCTCCATGC
CCTTAACACTGCCATGAAGC / intron2 / 503 / -
2 / TTGATTCAGTTGTCTCTGTCTTC
TCTGCTGAGTGTTTAGCTTGG / intron3 / 511 / -
34 / FGF12 / 3q28 / LOC478676 / 26.830
–
27.076 / 1 / CAAGGTTATTCAGCCAGCAG
TCCTCAATCAAAATGAAATCAC / exon2/
intron2 / 536 / LOC478676:g.41474A>C
LOC478676:g.41567A>G
LOC478676:g.41693T>C
34 / FGF12 / 3q28 / LOC478676 / 26.830
–
27.076 / 2 / TGTGTGCTGTGGTTGTATTTG
ATGAGGGCTTGGTTTTCTTC / intron3/
exon4 / 577 / -
34 / BCHE / 3q26.1 – 3q26.2 / BCHE / 33.920
–
33.985 / 1 / GGAGTTGGCCCTCAGATTAC
TGGAAGAGAAAACCAGAAAGC / intron1 / 546 / -
2 / GCTTGCTATAGGAGCAGCAC
CACAGAAGAGGCGATCATTC / intron2 / 566 / -
34 / PLD1 / 3q26 / LOC488167 / 38.927
–
39.051 / 1 / TAGGGCCAGAGAGGAGTAGG
CGGTCTTAAGGCATTTGTTG / intron4 / 528 / LOC488167:g.5988A>G
LOC488167:g.5991_5992insAGG
LOC488167:g.6139C>A
LOC488167:g.6216T>C
2 / GAGAGGGTCTCACAGAAAGC
GTGCTTAGCCGGTATCAGTC / intron18 / 511 / -
34 / KCNMB2 / 3q26.2 – 3q27.1 / LOC488179 / 44.963
–
44.997 / 1 / ATGATAATCCAGCGAGCAAC
GGTGAGTGACAGCCTTTGTC / intron2 / 589 / LOC488179:g.2322T>C
LOC488179:g.2564C>T
LOC488179:g.2653G>A
2 / CTTCCTCATCACCGTGTCTC
CATGTCGTAGCATCTTGTCG / intron6 / 565 / LOC488179:g.22293G>C
LOC488179:g.22660T>C
35 / DUSP22 / 6p25.3 / LOC606970 / 3.679
–
3.734 / 1 / GTCTGTCGATGTACGCTGTG
GGTGGGACCTCACAGTTAAG / intron2 / 509 / LOC606970:g.11811T>C
2 / CGATGCCCATAGCCTAGC
GTTTCCAATGCAGACCTGAC / intron7-intron8 / 589 / LOC606970:g.54502A>G
35 / BMP6 / 6p24 – 6p23 / LOC478715 / 10.692
–
10.840 / 1 / GTGGACCTGGAGGTGATATG
GCTTGACCACGATTCTAAGC / exon3-intron4 / 578 / -
2 / ATGTGAGCTTCCAAGACCTG
ATAATGCCACCTGCTTATGG / exon13-intron13 / 534 / LOC478715:g.147181G>T
35 / TBC1D7 / 6p24.1 / LOC478725 / 13.413
–
13.437 / 1 / GATGAGTGGCTGAAGGAAAG
ACATAAAGACGTGCCAGGAC / intron2 / 503 / -
2 / TCTGGTTCAAGAGGTGCTTC
GACTCTCAAATGCCAGCAAC / exon6/
intron6 / 542 / -
35 / TPMT / 6p22.3 / TPMT / 19.948
–
19.972 / 1 / ATTCTCAGGAAATGCACAGG
GAAAATGATTGCCAGGTTTG / intron2 / 525 / LOC403536:g.5372T>A
LOC403536:g.5626A>C
LOC403536:g.5633T>C
2 / TTCTGTGACACGGATAGCAG
AAAGCTCAGTTGTGGCAAAG / intron6 / 567 / LOC403536:g.18763G>A
LOC403536:g.18837A>T
LOC403536:g.18850G>A
LOC403536:g.19054G>A
LOC403536:g.19089C>T
35 / MRS2L / 6p22.3 – 6p22.1 / LOC488245 / 25.475
–
25.509 / 1 / TTGTCCATCGGTCCTAATTG
TCACACCTGTGACAGAGCAC / intron3 / 513 / -
2 / AGCTCTGCCTAACAAAGTGG
CGAGTGCACATAAGAGTAAACG / exon7/
intron7 / 546 / -
35 / GABBR1 / 6p21.31 / LOC488340 / 29.232
–
29.263 / 1 / CACCAGCAACACTGAGTCTG
AATTCCTGCATCCCTATGTG / intron2 / 590 / -
2 / CATTTCGCTTCATGTCACAG
GGAGCCGAATTAACCTCTTC / exon16/
intron16 / 504 / LOC488340:g.26312C>T
LOC488340:g.26342T>A
LOC488340:g.26384T>C
LOC488340:g.26413G>A