### LOVD-version 3000-21c ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = KRT16)
# charset = UTF-8

## Genes ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{name}}"	"{{chromosome}}"	"{{chrom_band}}"	"{{imprinting}}"	"{{refseq_genomic}}"	"{{refseq_UD}}"	"{{reference}}"	"{{url_homepage}}"	"{{url_external}}"	"{{allow_download}}"	"{{allow_index_wiki}}"	"{{id_hgnc}}"	"{{id_entrez}}"	"{{id_omim}}"	"{{show_hgmd}}"	"{{show_genecards}}"	"{{show_genetests}}"	"{{note_index}}"	"{{note_listing}}"	"{{refseq}}"	"{{refseq_url}}"	"{{disclaimer}}"	"{{disclaimer_text}}"	"{{header}}"	"{{header_align}}"	"{{footer}}"	"{{footer_align}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{updated_by}}"	"{{updated_date}}"
"KRT16"	"keratin 16"	"17"	"q21.2"	"unknown"	"NG_008301.1"	"UD_132119129796"	""	"http://www.LOVD.nl/KRT16"	""	"1"	"1"	"6423"	"3868"	"148067"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"http://databases.lovd.nl/shared/refseq/KRT16_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00000"	"2012-09-13 00:00:00"	"00006"	"2015-12-01 05:09:30"	"00006"	"2015-12-01 05:11:39"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00001488"	"KRT16"	"keratin 16"	"001"	"NM_005557.3"	""	"NP_005548.2"	""	""	""	"-139"	"1579"	"1422"	"39766030"	"39769079"	"00000"	"2012-09-13 13:35:50"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"01157"	"CHTE"	"Hypothyroidism, central, testicular enlargement (CHTE)"	"300888"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2015-10-24 17:14:32"
"01485"	"PC-1"	"pachyonychia congenita, type 1"	"167200"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2016-07-05 08:24:40"
"03226"	"FNEPPK-1"	"keratoderma, palmoplantar, nonepidermolytic, focal, type 1 (FNEPPK-1)"	"613000"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2015-12-08 23:59:30"
"03514"	"EPM-6"	"epilepsy, myoclonic, progressive, type 6 (EPM-6)"	"614018"	""	"autosomal recessive"	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2018-02-20 21:24:37"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"KRT16"	"01485"
"KRT16"	"03226"


## Individuals ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{fatherid}}"	"{{motherid}}"	"{{panelid}}"	"{{panel_size}}"	"{{owned_by}}"	"{{statusid}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Individual/Reference}}"	"{{Individual/Remarks}}"	"{{Individual/Gender}}"	"{{Individual/Consanguinity}}"	"{{Individual/Origin/Geographic}}"	"{{Individual/Age_of_death}}"	"{{Individual/VIP}}"	"{{Individual/Data_av}}"	"{{Individual/Treatment}}"	"{{Individual/Origin/Population}}"	"{{Individual/Individual_ID}}"
"00000208"	""	""	""	"1"	"00037"	"9"	"00001"	"2012-09-13 12:01:44"	"00006"	"2015-10-24 17:50:54"	"{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00054881"	""	""	""	"1"	"00006"	"9"	"00006"	"2015-12-01 04:31:33"	""	""	"{PMID:Corbett 2011:21549339}, {DOI:Corbett 2011:10.1016/j.ajhg.2011.04.011}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents/sib"	"F"	"yes"	"Australia"	"32y"	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}"	"{{diseaseid}}"
"00000208"	"01157"
"00054881"	"03514"


## Phenotypes ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{statusid}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Pancreas/Insufficiency}}"	"{{Phenotype/Scalp/Defects}}"	"{{Phenotype/Anorectum/Anomalies}}"	"{{Phenotype/Genitals/Malformations}}"	"{{Phenotype/Hypothyroidism}}"	"{{Phenotype/Length/Stature}}"	"{{Phenotype/Malformations/Other}}"	"{{Phenotype/Biochem_param}}"	"{{Phenotype/enzyme_act}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Head/Microcephaly}}"	"{{Phenotype/Heart/Defects}}"	"{{Phenotype/Teeth/Oligodontia}}"	"{{Phenotype/Brain/Corpus_Callosum/Agenesis}}"	"{{Phenotype/Behavior/Abnormality}}"	"{{Phenotype/Birth/Gestational_age_wk}}"	"{{Phenotype/Birth/OFC_at_birth_SDS}}"	"{{Phenotype/Birth/Weight}}"	"{{Phenotype/Brain_MRI}}"	"{{Phenotype/Choanal_stenosis}}"	"{{Phenotype/Bone/Age}}"	"{{Phenotype/Development/Cognition}}"	"{{Phenotype/Development/Speech/Delayed}}"	"{{Phenotype/Elbow/Dislocated}}"	"{{Phenotype/Extremities/Brachydactyly}}"	"{{Phenotype/Extremities/Epiphyses/Cone_shaped}}"	"{{Phenotype/Extremities/Nails/Small}}"	"{{Phenotype/Extremities/Phalanges/Distal/Absent_5th}}"	"{{Phenotype/Extremities/Phalanges/Distal/Prominent}}"	"{{Phenotype/Extremities/Phalanges/Hypoplasia}}"	"{{Phenotype/Extremities/Joints/Interphalangeal/Prominent}}"	"{{Phenotype/Facial/Ears/Abnormal}}"	"{{Phenotype/Facial/Ears/Tags}}"	"{{Phenotype/Facial/Mouth/Wide}}"	"{{Phenotype/Facial/Nose/Bridge}}"	"{{Phenotype/Facial/Nose/Anteverted}}"	"{{Phenotype/Facial/Philtrum/Length}}"	"{{Phenotype/Facial/Philtrum/Width}}"	"{{Phenotype/Facial/Ptosis}}"	"{{Phenotype/Facial/Eyebrows/Density}}"	"{{Phenotype/Feeding/Problems}}"	"{{Phenotype/Feeding/Problems/Duration}}"	"{{Phenotype/Feeding/Problems/Start}}"	"{{Phenotype/Infections/Recurrent}}"	"{{Phenotype/Growth}}"	"{{Phenotype/Growth/Height_SDS}}"	"{{Phenotype/Hair/Scalp}}"	"{{Phenotype/Hearing/Other}}"	"{{Phenotype/Hearing/Problems}}"	"{{Phenotype/Hypertrichosis}}"	"{{Phenotype/Hypotonia/Muscular/Generalized}}"	"{{Phenotype/Hernia/Inguinal}}"	"{{Phenotype/Intestinal/GastroEsophoegal_Reflux}}"	"{{Phenotype/Intestinal/Stenosis_Pyloric}}"	"{{Phenotype/Joint/Laxity}}"	"{{Phenotype/Malformations/Cardiac}}"	"{{Phenotype/Mouth/Cleft_palate}}"	"{{Phenotype/Intestine/Abnormality}}"	"{{Phenotype/Kidney/Anomaly}}"	"{{Phenotype/Facial/Lacrimal_Duct/Abnormality}}"	"{{Phenotype/Pectus_excavatum}}"	"{{Phenotype/Scoliosis}}"	"{{Phenotype/Seizures}}"	"{{Phenotype/Seizures/Age/Onset}}"	"{{Phenotype/Seizures/Frequency}}"	"{{Phenotype/Seizures/Type}}"	"{{Phenotype/Skin/Cutis_marmorata}}"	"{{Phenotype/Skin/Eczema}}"	"{{Phenotype/Skin/Wrinkling}}"	"{{Phenotype/Patella/Small}}"	"{{Phenotype/Vision/Astigmatism}}"	"{{Phenotype/Vision/Coloboma}}"	"{{Phenotype/Vision/Other}}"	"{{Phenotype/Vision/Problems}}"	"{{Phenotype/Enzyme/CreatineKinase}}"	"{{Phenotype/Muscle/Electromyography}}"	"{{Phenotype/Muscle/Biopsy}}"	"{{Phenotype/Teeth/Anomalies}}"	"{{Phenotype/Development/Speech}}"	"{{Phenotype/Development/Motor_skills}}"	"{{Phenotype/Age/Examined/Last}}"	"{{Phenotype/Teeth}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Severity_score}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/TSC}}"	"{{Phenotype/Diagnosis/Original}}"	"{{Phenotype/Face/Shape}}"	"{{Phenotype/Hemihypertrophy/HPO_0001528}}"	"{{Phenotype/Intrauterine_growth_retardation/HPO/0001511}}"	"{{Phenotype/Adrenal_hypoplasia/HPO_0000835}}"	"{{Phenotype/Hypercalciuria/HPO_0002150}}"	"{{Phenotype/Facial/Frontal_bossing/HPO_0002007}}"	"{{Phenotype/Facial/Nose}}"	"{{Phenotype/Arms_short/HPO_0009824}}"	"{{Phenotype/Limbs_short/HPO_0006385}}"	"{{Phenotype/Craniosynostosis/HPO_1363}}"	"{{Phenotype/Osteopenia/HPO_0000938}}"	"{{Phenotype/Epiphyses_smal/HPO_0010585}}"	"{{Phenotype/Metaphyses_irregular/HPO_0003025}}"	"{{Phenotype/Macrosomia/HPO_0001520}}"	"{{Phenotype/Macroglossia/HPO_0000158}}"	"{{Phenotype/Abdominal_wall_defect/HPO_0010866}}"	"{{Phenotype/Hypoglycemia/HPO_0001943}}"	"{{Phenotype/Tumor}}"	"{{Phenotype/Karyotype}}"	"{{Phenotype/Organomegaly}}"	"{{Phenotype/Heart/Abnormality}}"	"{{Phenotype/Eyelid/Naevus_flammeus/HPO_0010733}}"	"{{Phenotype/Fever_episodic/HPO_0001954}}"	"{{Phenotype/Dehydration/HPO_0001944}}"	"{{Phenotype/Cyanosis/HPO_0000961}}"	"{{Phenotype/Swallowing_poor/HPO_0002015}}"	"{{Phenotype/Camptodactyly/HPO_0012385}}"	"{{Phenotype/Cheeks_full/HPO_0000293}}"	"{{Phenotype/Foot_abnormality/HPO_0001760}}"	"{{Phenotype/Palate_high/HPO_0000218}}"	"{{Phenotype/Sweating/Cold_induced}}"	"{{Phenotype/Contractures/Joints_large/HPO_0005781}}"	"{{Phenotype/Development_delay_global/HPO_0001263}}"	"{{Phenotype/Neuropathy_peripheral/HPO_0009830}}"	"{{Phenotype/Tumor/IHC}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Family/Criteria}}"	"{{Phenotype/Family/History}}"	"{{Phenotype/BleedingScore}}"	"{{Phenotype/BleedingScore/Tool}}"	"{{Phenotype/Sub_type}}"	"{{Phenotype/Iron/Hepatic_elevated/HPO_0012465}}"	"{{Phenotype/Hand/Small/HPO_0200055}}"	"{{Phenotype/Hypermobility}}"	"{{Phenotype/Obesity/HPO_0001513}}"	"{{Phenotype/Intellectual_dis/HPO_0001249}}"	"{{Phenotype/Puberty}}"	"{{Phenotype/AmnioticFluid/Abnormality/HPO_0001560}}"	"{{Phenotype/Placentomegaly}}"	"{{Phenotype/Prenatal}}"	"{{Phenotype/Birth/Length}}"	"{{Phenotype/Hirsutism/Forehead/HPO_0011335}}"	"{{Phenotype/Blepharophimosis/HPO_0000581}}"	"{{Phenotype/Facial/Lips}}"	"{{Phenotype/Facial/Micrognathia/HPO_0000347}}"	"{{Phenotype/Neck/Webbed/HPO_0000465}}"	"{{Phenotype/Laryngomalacia/HPO_0001601}}"	"{{Phenotype/Thorax/Bell_shaped/HPO_0001591}}"	"{{Phenotype/Ribs/Coat_hanger/HPO_0006665}}"	"{{Phenotype/Diastasis_recti/HPO_0001540}}"	"{{Phenotype/Hip/Coxa_valga/HPO_0002673}}"	"{{Phenotype/Orbits/Shallow/HPO_0000586}}"	"{{Phenotype/Ossification/Ectopic/HPO_0011986}}"	"{{Phenotype/Hair/Alopecia}}"	"{{Phenotype/Eye/Chorioretinopathy/HPO_0001145}}"	"{{Phenotype/Eye/Eyelashes}}"	"{{Phenotype/Kidney/Disease}}"	"{{Phenotype/Cysts}}"	"{{Phenotype/Aneurysm}}"	"{{Phenotype/Hypertension/HPO_0000822}}"	"{{Phenotype/Hematuria/HPO_0000790}}"	"{{Phenotype/Nephrolithiasis/HPO_0000787}}"	"{{Phenotype/Disease/Status}}"	"{{Phenotype/Kidney/Size}}"	"{{Phenotype/Dilatation}}"	"{{Phenotype/Sleep}}"	"{{Phenotype/Eye/Pupil}}"	"{{Phenotype/Umbilicus}}"	"{{Phenotype/Eye}}"	"{{Phenotype/Creatinine/Level}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Protein/F8_Ag}}"	"{{Phenotype/Protein/F8_C/Stage1}}"	"{{Phenotype/Protein/F8_C/Stage2}}"	"{{Phenotype/Protein/FAssay_ratio}}"	"{{Phenotype/Immunology/Auto_antibodies}}"	"{{Phenotype/Severity}}"	"{{Phenotype/Abnormality}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Inclusion}}"	"{{Phenotype/MRI/brain}}"	"{{Phenotype/Eye/Lens/Cataract}}"	"{{Phenotype/Head/Fontanel}}"	"{{Phenotype/Eye/Ball}}"	"{{Phenotype/Fistula}}"	"{{Phenotype/Cancer/Sub_type}}"	"{{Phenotype/BCells}}"	"{{Phenotype/BCells_surf_Ig}}"	"{{Phenotype/CD19}}"	"{{Phenotype/CD20}}"	"{{Phenotype/Immunoglobulin/IgA}}"	"{{Phenotype/Immunoglobulin/IgE}}"	"{{Phenotype/Immunoglobulin/IgG}}"	"{{Phenotype/Immunoglobulin/IgG/IgG1}}"	"{{Phenotype/Immunoglobulin/IgG/IgG2}}"	"{{Phenotype/Immunoglobulin/IgG/IgG3}}"	"{{Phenotype/Immunoglobulin/IgG/IgG4}}"	"{{Phenotype/Immunoglobulin/IgM}}"	"{{Phenotype/Enzyme/Kinase}}"	"{{Phenotype/CD3}}"	"{{Phenotype/CD4}}"	"{{Phenotype/CD8}}"	"{{Phenotype/Calcification}}"	"{{Phenotype/Ion_Homeostasis}}"	"{{Phenotype/Hormones}}"	"{{Phenotype/Vitamin}}"	"{{Phenotype/Protein/Multimer_profile}}"	"{{Phenotype/DTI_Tractography}}"	"{{Phenotype/Eye/OCT}}"	"{{Phenotype/Vision/Field}}"	"{{Phenotype/Vision/Acuity}}"	"{{Phenotype/Vision/Optic_nerve/Hypoplasia}}"	"{{Phenotype/Vision/Colour}}"	"{{Phenotype/Eye/Retina}}"	"{{Phenotype/Neoplasm}}"	"{{Phenotype/Growth/Retardation/Postnatal/HPO_0008897}}"	"{{Phenotype/Asymmetry/Body}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Habits}}"	"{{Phenotype/Reproduction/Abnormal/Physiology}}"	"{{Phenotype/Testis/Abnormal}}"	"{{Phenotype/Eye/Movement}}"	"{{Phenotype/Skin}}"	"{{Phenotype/Finger_Toe/Abnormal}}"	"{{Phenotype/Urine}}"	"{{Phenotype/Hair/Pigmentation}}"	"{{Phenotype/Histology}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000038983"	"01157"	"00000208"	"00006"	"9"	"00006"	"2015-10-24 17:16:34"	"00006"	"2015-10-24 17:58:50"	"Familial, X-linked recessive"	""	"central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"3w"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000041542"	"03514"	"00054881"	"00006"	"9"	"00006"	"2015-12-01 04:31:33"	""	""	"Isolated (sporadic)"	""	"7y tremor; 7-8y absences; 8y obvious myoclonus; 13y drop attacks; 13y convulsive seizures; 2y areflexia; 14y wheelchair; 22y bedfast; normal cognition until 25y, mmemory difficulties later; scoliosis, pes cavus; EEG generalized spike-wave, posterior emphasis photosensitive; CK 570–800 (normal <170)"	""	""	""	""	""	""	""	""	""	"2y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"ataxia"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000209"	"00000208"	"1"	"00037"	"00001"	"2012-09-13 12:02:03"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000054833"	"00054881"	"1"	"00006"	"00006"	"2015-12-01 04:31:33"	""	""	"arraySNP;SEQ;SEQ-NG"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000054833"	"COASY"
"0000054833"	"GOSR2"
"0000054833"	"KRT16"


## Variants_On_Genome ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Count = 7
"{{id}}"	"{{allele}}"	"{{effectid}}"	"{{chromosome}}"	"{{position_g_start}}"	"{{position_g_end}}"	"{{type}}"	"{{mapping_flags}}"	"{{average_frequency}}"	"{{owned_by}}"	"{{statusid}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{VariantOnGenome/DBID}}"	"{{VariantOnGenome/DNA}}"	"{{VariantOnGenome/Frequency}}"	"{{VariantOnGenome/Reference}}"	"{{VariantOnGenome/Restriction_site}}"	"{{VariantOnGenome/Published_as}}"	"{{VariantOnGenome/Remarks}}"	"{{VariantOnGenome/Genetic_origin}}"	"{{VariantOnGenome/Segregation}}"	"{{VariantOnGenome/dbSNP}}"	"{{VariantOnGenome/VIP}}"	"{{VariantOnGenome/Methylation}}"	"{{VariantOnGenome/ISCN}}"	"{{VariantOnGenome/DNA/hg38}}"	"{{VariantOnGenome/ClinVar}}"
"0000005690"	"3"	"30"	"17"	"39767836"	"39767836"	"subst"	"35"	"0.56636"	"00037"	"9"	"00001"	"2012-09-13 12:05:04"	"00006"	"2015-12-01 05:11:39"	"KRT16_000001"	"g.39767836G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.41611584G>A"	""
"0000084860"	"3"	"50"	"17"	"39766640"	"39766640"	"subst"	"0"	"0"	"00006"	"9"	"00006"	"2015-12-01 05:08:44"	""	""	"KRT16_000002"	"g.39766640G>A"	""	"{PMID:Corbett 2011:21549339}, {DOI:Corbett 2011:10.1016/j.ajhg.2011.04.011}"	""	""	"not associated with disease phenotype"	"Germline"	""	""	"0"	""	""	"g.41610388G>A"	""
"0000248693"	"0"	"10"	"17"	"39767744"	"39767744"	"subst"	"33"	"0.628325"	"02325"	"9"	"00006"	"2018-01-15 20:58:59"	"00000"	"2018-03-09 12:10:22"	"KRT16_000004"	"g.39767744A>G"	""	""	""	"KRT16:c.624T>C (=)"	"VKGL data sharing initiative Nederland; correct HGVS to be checked"	"CLASSIFICATION record"	""	""	"0"	""	""	""	""
"0000249225"	"0"	"10"	"17"	"39766504"	"39766504"	"subst"	"33"	"0.966626"	"02325"	"9"	"00006"	"2018-01-15 20:58:59"	"00000"	"2018-03-09 12:10:18"	"KRT16_000003"	"g.39766504A>G"	""	""	""	"KRT16:c.1281-16T>C"	"VKGL data sharing initiative Nederland; correct HGVS to be checked"	"CLASSIFICATION record"	""	""	"0"	""	""	""	""
"0000281884"	"0"	"30"	"17"	"39768734"	"39768734"	"subst"	"33"	"0"	"02325"	"9"	"00006"	"2018-01-15 20:58:59"	"00000"	"2018-03-09 12:11:48"	"KRT16_000006"	"g.39768734G>T"	""	""	""	"KRT16:c.207C>A (=)"	"VKGL data sharing initiative Nederland; correct HGVS to be checked"	"CLASSIFICATION record"	""	""	"0"	""	""	""	""
"0000281885"	"0"	"50"	"17"	"39768724"	"39768725"	"ins"	"33"	"0"	"02325"	"9"	"00006"	"2018-01-15 20:58:59"	"00000"	"2018-03-09 12:11:12"	"KRT16_000005"	"g.39768724_39768725insCTG"	""	""	""	"KRT16:c.227_229dupAGC (S77dup)"	"VKGL data sharing initiative Nederland; correct HGVS to be checked"	"CLASSIFICATION record"	""	""	"0"	""	""	""	""
"0000281886"	"0"	"30"	"17"	"39768881"	"39768881"	"subst"	"33"	"0"	"02325"	"9"	"00006"	"2018-01-15 20:58:59"	"00000"	"2018-03-09 12:12:58"	"KRT16_000007"	"g.39768881G>A"	""	""	""	"KRT16:c.60C>T (=)"	"VKGL data sharing initiative Nederland; correct HGVS to be checked"	"CLASSIFICATION record"	""	""	"0"	""	""	""	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Count = 7
"{{id}}"	"{{transcriptid}}"	"{{effectid}}"	"{{position_c_start}}"	"{{position_c_start_intron}}"	"{{position_c_end}}"	"{{position_c_end_intron}}"	"{{VariantOnTranscript/DNA}}"	"{{VariantOnTranscript/RNA}}"	"{{VariantOnTranscript/Protein}}"	"{{VariantOnTranscript/Exon}}"	"{{VariantOnTranscript/PolyPhen}}"	"{{VariantOnTranscript/GVS/Function}}"	"{{VariantOnTranscript/Haplotype}}"	"{{VariantOnTranscript/SIFT}}"	"{{VariantOnTranscript/PolyPhen/Score}}"	"{{VariantOnTranscript/Classification}}"	"{{VariantOnTranscript/Protein/Domain}}"	"{{VariantOnTranscript/Protein/CodonNr}}"	"{{VariantOnTranscript/Exon_old}}"	"{{VariantOnTranscript/Variant/Type}}"	"{{VariantOnTranscript/Consequence/Predicted}}"	"{{VariantOnTranscript/Screen/Method}}"	"{{VariantOnTranscript/DNA/Legacy}}"	"{{VariantOnTranscript/Protein/Legacy}}"	"{{VariantOnTranscript/Predict/MutationTaster}}"	"{{VariantOnTranscript/Grantham}}"	"{{VariantOnTranscript/Predict/AGVGD}}"	"{{VariantOnTranscript/Codon_change}}"	"{{VariantOnTranscript/VariO/DNA}}"	"{{VariantOnTranscript/VariO/Protein}}"	"{{VariantOnTranscript/VariO/RNA}}"	"{{VariantOnTranscript/CpG}}"	"{{VariantOnTranscript/Enzyme/Kinase_activity}}"	"{{VariantOnTranscript/mRNA_level}}"	"{{VariantOnTranscript/Protein_level}}"	"{{VariantOnTranscript/Conservation}}"	"{{VariantOnTranscript/Predict/Splice}}"	"{{VariantOnTranscript/Protein/Stain}}"	"{{VariantOnTranscript/Predict/CADD}}"
"0000005690"	"00001488"	"30"	"614"	"55"	"614"	"55"	"c.614+55C>T"	"r.(?)"	"p.(=)"	"2i"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000084860"	"00001488"	"50"	"1223"	"0"	"1223"	"0"	"c.1223C>T"	"r.(?)"	"p.(Thr408Met)"	"6"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000248693"	"00001488"	"10"	"624"	"0"	"624"	"0"	"c.624T>C"	"r.(=)"	"p.(=)"	""	""	""	""	""	""	"benign"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000249225"	"00001488"	"10"	"1281"	"-16"	"1281"	"-16"	"c.1281-16T>C"	"r.(=)"	"p.(=)"	""	""	""	""	""	""	"benign"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000281884"	"00001488"	"30"	"207"	"0"	"207"	"0"	"c.207C>A"	"r.(=)"	"p.(=)"	""	""	""	""	""	""	"likely benign"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000281885"	"00001488"	"50"	"216"	"0"	"217"	"0"	"c.216_217insCAG"	"r.(?)"	"p.(Phe72_Ser73insGln)"	""	""	""	""	""	""	"VUS"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000281886"	"00001488"	"30"	"60"	"0"	"60"	"0"	"c.60C>T"	"r.(=)"	"p.(=)"	""	""	""	""	""	""	"likely benign"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{variantid}}"
"0000000209"	"0000005690"
"0000054833"	"0000084860"