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INDIVIDUALS: SNP LIST:	GROUPS: SAVED GENE LIST: GENE LIST:	INDIVIDUALS: EXCLUDE SNP LIST:	EXCLUDE GROUPS: EXCLUDE SAVED GENE LIST: EXCLUDE GENE LIST:
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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
MUTATION TYPE:	CHR: POS:

DBSNP BUILD: EXCLUDE VARIANTS AT VARISNP	READ DEPTH: QUAL:	VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES	DBSNP FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN DBSNP	ESP6500 FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE	EXCLUDE VARIANTS WITHOUT SIFT SCORE	POLYPHEN2 SCORE	EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD	EXCLUDE VARIANTS WITHOUT CADD SCORE	MCAP	EXCLUDE VARIANTS WITHOUT M-CAP SCORE

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+ Genes 23

Genes:
AC074212.3, AKAP12, BCL6B, C18orf25, DNHD1, DSPP, EME1, FAM90A1, FMNL2, HADHB, HOXD9, IFI27, NR1H2, OR7C2, OXA1L, RAB44, REC8, SH3BGR, SLC28A1, SYNGR1, TBP, TMEM37, ZBTB33,

+ Genes associated with diseases 3

Genes at Omim

DSPP, HADHB, TBP,

DSPP	Deafness, autosomal dominant 39, with dentinogenesis, 605594 (3) Dentin dysplasia, type II, 125420 (3) Dentinogenesis imperfecta, Shields type II, 125490 (3) Dentinogenesis imperfecta, Shields type III, 125500 (3)
HADHB	Trifunctional protein deficiency, 609015 (3)
TBP	{Parkinson disease, susceptibility to}, 168600 (3) Spinocerebellar ataxia 17, 607136 (3)

Genes at Clinical Genomics Database

DSPP, HADHB, TBP,

DSPP	Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1 Dentinogenesis imperfecta, Shields type II Dentinogenesis imperfecta, Shields type III Dentin dysplasia, type II
HADHB	Trifunctional protein deficiency
TBP	Spinocerebellar ataxia 17

Genes at HGMD

Summary

Number of Variants: 23
Number of Genes: 23

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AC074212.3
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	gg_mutation_report	19	rs59054027 dbSNP Clinvar	46265085	0.0	C	CC...	flt	0/1	30	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	None
AKAP12
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	gg_mutation_report	6	.	151674121	0.0	A	AGGA	flt	1/1	322	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	AKAP12\|0.001631589\|92.22%
BCL6B
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	gg_mutation_report	17	rs55799550 dbSNP Clinvar	6928049	0.0	G	GCAG	flt	0/1	35	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	BCL6B\|0.213572706\|35.16%
C18orf25
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	gg_mutation_report	18	.	43833704	0.0	G	GCTG	flt	0/1	358	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	C18orf25\|0.503978181\|15.65%
DNHD1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	gg_mutation_report	11	.	6567906	0.0	C	CA...	flt	0/1	181	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	DNHD1\|0.019835865\|74.26%
DSPP
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	gg_mutation_report	4	.	88536459	0.0	G	GT...	PASS	0/1	139	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	DSPP\|0.054175637\|61.42%
EME1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	gg_mutation_report	17	.	48452981	0.0	C	CAGC	flt	0/1	110	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	EME1\|0.046021007\|63.91%,LRRC59\|0.084985608\|54.21%
FAM90A1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	gg_mutation_report	12	rs71265055 dbSNP Clinvar	8374781	0.0	C	CACG	flt	1/1	110	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.43271	0.43270	0.47518				None None	None None None None	FAM90A1\|0.000638586\|97.62%
FMNL2
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	gg_mutation_report	2	rs774744090 dbSNP Clinvar	153476069	0.0	C	A,...	PASS	1/2	25	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	FMNL2\|0.571016453\|12.93%
HADHB
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	gg_mutation_report	2	.	26477129	0.0	A	ACTA	PASS	1/1	468	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	HADHB\|0.207953227\|35.81%
HOXD9
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	gg_mutation_report	2	.	176988302	0.0	A	AGCA	PASS	0/1	6	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	HOXD9\|0.934212013\|2.67%
IFI27
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	gg_mutation_report	14	rs3064076 dbSNP Clinvar	94582133	0.0	C	CC...	flt	0/1	73	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	IFI27\|0.001693986\|91.92%
NR1H2
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	gg_mutation_report	19	rs1052533 dbSNP Clinvar	50881825	0.0	G	A,...	flt	1/2	19	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	NR1H2\|0.484472054\|16.53%
OR7C2
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	gg_mutation_report	19	.	15052986	0.0	C	CATC	flt	1/1	290	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	OR7C2\|0.001466113\|92.96%
OXA1L
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	gg_mutation_report	14	.	23240726	0.0	A	AGCA	flt	0/1	185	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	OXA1L\|0.120087489\|47.42%
RAB44
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	gg_mutation_report	6	rs60578851 dbSNP Clinvar	36688984	0.0	C	CT...	PASS	0/1	36	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	RAB44\|0.013840487\|77.99%
REC8
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	gg_mutation_report	14	rs34582034 dbSNP Clinvar	24646413	0.0	G	GAAG	flt	1/1	174	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	REC8\|0.030069397\|69.37%
SH3BGR
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	gg_mutation_report	21	.	40883677	0.0	A	AAGA	flt	0/1	78	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	SH3BGR\|0.025744385\|71.44%
SLC28A1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	gg_mutation_report	15	.	85438312	0.0	T	TTGT	flt	0/1	99	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	SLC28A1\|0.017310732\|75.67%
SYNGR1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	gg_mutation_report	22	rs57910921 dbSNP Clinvar	39777824	0.0	A	AACA	flt	1/1	40	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	SYNGR1\|0.100294024\|51.11%
TBP
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	gg_mutation_report	6	rs71010672 dbSNP Clinvar	170871039	0.0	A	AGCA	flt	0/1	38	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	TBP\|0.773041941\|6.48%
TMEM37
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	gg_mutation_report	2	rs3217464 dbSNP Clinvar	120194651	0.0	A	AG...	PASS	1/1	103	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.89637	0.89640	0.11529				None None	None None None None	TMEM37\|0.024253839\|72.11%
ZBTB33
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	gg_mutation_report	X	.	119387853	0.0	G	GATG	flt	0/1	28	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	ZBTB33\|0.393506803\|21.17%

+ Filter Options

FREQUENCIES

SCORES

+ Genes 23

+ Genes associated with diseases 3

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

AC074212.3

AKAP12

BCL6B

C18orf25

DNHD1

DSPP

EME1

FAM90A1

FMNL2

HADHB

HOXD9

IFI27

NR1H2

OR7C2

OXA1L

RAB44

REC8

SH3BGR

SLC28A1

SYNGR1

TBP

TMEM37

ZBTB33

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