Joint Open Genome and Omics Platform (JoGo)

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Item	Value
geneid	653282
ensemblid	ENSG00000228517.3
hgncid	33288
symbol	CT47A7
name	cancer/testis antigen family 47 member A7
refseq_nuc	NM_001080140.1
refseq_prot	NP_001073609.1
ensembl_nuc	ENST00000434883.3
ensembl_prot	ENSP00000392283.2
mane_status	MANE Select
chr	chrX
start	120953282
end	120956600
strand	-
ver	v1.2
region	chrX:120953282-120956600
region5000	chrX:120948282-120961600
regionname0	CT47A7_chrX_120953282_120956600
regionname5000	CT47A7_chrX_120948282_120961600

ahapid	grch38/ chm13v2	alen	total	AFR	AMR	EAS	EUR	SAS	JPT	regionname	genename	aa	chr	start	end
a0001	1/0	288	18	2	1	6	2	6	4	CT47A7_chrX_120948282_120961600	CT47A7	MSATG others(283): Show MSATGDRHPTQGDQEAPVSQEGAQAEAAGAGNQEGGDSGPDSSDVVPAAE VVGVAGPVEGLGEEEGEQAAGLAAVPRGGSAEEDSDIGPATEEEEEEEGN EAANFDLAVVARRYPASGIHFVLLDMVHSLLHRLSHNDHILIENRQLSRL MVGPHAAARNLWGNLPPLLLPQRLGAGAAARAGEGLGLIQEAASVPEPAV PADLAEMAREPAEEAAEEKLSEEATEEPDAEEPATEEPTAQEATAPEEVT KSQPEKWDEEAQDAAGEEEKEQEKEKDAENKVKNSKGT	chrX	120948282	120961600
a0002	0/0	294	1	0	0	0	1	0	0	CT47A7_chrX_120948282_120961600	CT47A7	MSATG others(289): Show MSATGDRHPTQGDQEAPVSQEGAQAEAAGAGNQEGGDSGPDSSDMVPAAE VVGVAGPVEGLGEEEGEQAAGLAAVPQGGSAEEDSDIGPATEEEEEEEGN EAANFDLAVATRRYPAAGIGFVFLYLVHSLLRRLYHNDHIQIANRHLSRL MVGPHAAVPNLWDNPPLLLLSQRLGAGAAAPEGEGLGLIQEAASVQEAAS VPEPAVPADLAEMAREPAEEAADEKPPEEAAEETEAEEPAAEEPTSEEAV APEEVTKSQPEKWDEEAQDAAGEEEKEQEKEKDVENKVKNSKGT	chrX	120948282	120961600

achapid	grch38/ chm13v2	alen	clen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	aseq	cseq	chr	start	end
a0001c0001	1/0		864	18	2	1	6	2	6	CT47A7_chrX_120948282_120961600	CT47A7		ATGTC others(859): Show ATGTCTGCCACAGGGGACCGACACCCGACCCAAGGGGACCAGGAGGCCCC GGTAAGCCAGGAGGGAGCACAGGCCGAGGCGGCCGGAGCTGGTAACCAGG AGGGCGGCGACTCCGGCCCCGACAGCAGCGACGTGGTGCCTGCGGCCGAG GTGGTCGGAGTCGCAGGGCCCGTGGAAGGCCTCGGGGAGGAGGAGGGTGA GCAGGCGGCAGGCCTGGCCGCAGTCCCCCGGGGCGGGAGCGCCGAGGAGG ACTCAGATATCGGGCCCGCGACGGAGGAAGAGGAGGAGGAAGAGGGGAAC GAGGCGGCCAACTTCGACTTGGCGGTGGTCGCCCGTCGCTACCCGGCGTC GGGCATTCACTTCGTGCTCCTGGACATGGTCCACTCCCTTCTCCACCGCC TCTCTCACAACGACCACATCCTCATAGAGAACCGTCAACTCAGCCGCCTG ATGGTGGGGCCACACGCTGCTGCGCGCAACCTCTGGGGCAACCTCCCCCC GCTGCTGCTGCCCCAGAGGCTGGGTGCAGGGGCCGCAGCCCGGGCGGGCG AGGGCCTGGGCCTGATCCAGGAGGCCGCATCGGTCCCAGAGCCTGCAGTG CCAGCTGACCTGGCCGAGATGGCCAGGGAGCCCGCGGAGGAGGCCGCAGA GGAGAAGCTCTCAGAGGAGGCCACAGAGGAACCAGACGCAGAGGAACCGG CCACAGAAGAACCGACCGCACAGGAGGCCACGGCCCCAGAGGAAGTCACT AAATCTCAGCCCGAAAAGTGGGATGAAGAGGCCCAAGATGCTGCAGGCGA GGAAGAGAAAGAACAAGAAAAAGAGAAGGATGCGGAAAACAAGGTGAAGA ACTCCAAAGGGACC	chrX	120948282	120961600
a0002c0002	0/0		882	1	0	0	0	1	0	CT47A7_chrX_120948282_120961600	CT47A7		ATGTC others(877): Show ATGTCTGCCACAGGGGACCGACACCCGACCCAAGGGGACCAGGAGGCCCC GGTAAGCCAGGAGGGAGCACAGGCCGAGGCGGCCGGAGCTGGTAACCAGG AGGGCGGCGACTCCGGCCCCGACAGCAGCGACATGGTGCCTGCGGCCGAG GTGGTCGGAGTCGCAGGGCCCGTGGAAGGCCTCGGGGAGGAGGAGGGTGA GCAGGCGGCAGGCCTGGCCGCAGTCCCCCAGGGCGGGAGCGCCGAGGAGG ACTCAGATATCGGGCCCGCGACGGAGGAAGAGGAGGAGGAAGAGGGGAAC GAGGCGGCCAACTTCGACTTGGCGGTGGCCACCCGTCGGTACCCGGCGGC GGGCATTGGCTTCGTGTTCCTGTACCTGGTCCACTCCCTTCTCCGCCGCC TCTATCACAACGACCACATCCAGATAGCGAACCGTCACCTCAGCCGCCTG ATGGTGGGGCCCCACGCTGCTGTGCCCAACCTCTGGGACAACCCTCCCCT GCTGCTGCTGTCCCAGAGGCTGGGTGCAGGGGCTGCAGCCCCGGAAGGCG AGGGCCTCGGCCTGATCCAGGAGGCTGCGTCGGTCCAGGAGGCCGCGTCG GTCCCAGAGCCTGCAGTGCCAGCTGACCTGGCCGAGATGGCCAGGGAGCC CGCGGAGGAGGCCGCAGATGAGAAACCCCCAGAGGAGGCCGCAGAGGAGA CAGAGGCAGAGGAACCGGCCGCAGAGGAACCGACCTCAGAGGAGGCCGTG GCCCCCGAGGAAGTCACTAAATCTCAGCCCGAAAAGTGGGATGAAGAGGC CCAAGATGCTGCAGGCGAGGAAGAGAAAGAACAAGAAAAAGAGAAGGATG TGGAAAACAAGGTGAAGAACTCCAAAGGGACC	chrX	120948282	120961600

acthapid	grch38 chm13v2	tlen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	tseq	chr	start	end
a0001c0001t0001	0/0	1294	14	2	1	4	2	5	CT47A7_chrX_120948282_120961600	CT47A7	ACCAG others(1289): Show ACCAGAATCTTTCCCAACTTGTCTAAGTCCTCTCAGGCCAGCCTTGGTGG GAGGTTTCTAGGATTCGCTCCCTGCCCTTCCCATCTTAGGGTGTCGTCTG AGACAGACTCTTATTCCCTCAATAAAGAGAGAGACTCTTATTCCCTCAGC GGCCAGCTCCTCGCCTCCCCTCGGCCGTAGCCACCTCAGTGGTCACCGTC TTCACCGTGGTCGCCTCAGCCCGCTCGCCACCCCAGTTGAGGCGCTGCTG GTGTCATGTCTGCCACAGGGGACCGACACCCGACCCAAGGGGACCAGGAG GCCCCGGTAAGCCAGGAGGGAGCACAGGCCGAGGCGGCCGGAGCTGGTAA CCAGGAGGGCGGCGACTCCGGCCCCGACAGCAGCGACGTGGTGCCTGCGG CCGAGGTGGTCGGAGTCGCAGGGCCCGTGGAAGGCCTCGGGGAGGAGGAG GGTGAGCAGGCGGCAGGCCTGGCCGCAGTCCCCCGGGGCGGGAGCGCCGA GGAGGACTCAGATATCGGGCCCGCGACGGAGGAAGAGGAGGAGGAAGAGG GGAACGAGGCGGCCAACTTCGACTTGGCGGTGGTCGCCCGTCGCTACCCG GCGTCGGGCATTCACTTCGTGCTCCTGGACATGGTCCACTCCCTTCTCCA CCGCCTCTCTCACAACGACCACATCCTCATAGAGAACCGTCAACTCAGCC GCCTGATGGTGGGGCCACACGCTGCTGCGCGCAACCTCTGGGGCAACCTC CCCCCGCTGCTGCTGCCCCAGAGGCTGGGTGCAGGGGCCGCAGCCCGGGC GGGCGAGGGCCTGGGCCTGATCCAGGAGGCCGCATCGGTCCCAGAGCCTG CAGTGCCAGCTGACCTGGCCGAGATGGCCAGGGAGCCCGCGGAGGAGGCC GCAGAGGAGAAGCTCTCAGAGGAGGCCACAGAGGAACCAGACGCAGAGGA ACCGGCCACAGAAGAACCGACCGCACAGGAGGCCACGGCCCCAGAGGAAG TCACTAAATCTCAGCCCGAAAAGTGGGATGAAGAGGCCCAAGATGCTGCA GGCGAGGAAGAGAAAGAACAAGAAAAAGAGAAGGATGCGGAAAACAAGGT GAAGAACTCCAAAGGGACCTAGACGCAGCAGAGGTGAAGCCAAGAAAATC CAGATGCCTGTGGGAATTGTAACACATATCATTCCAAAGTTCGTTACATC AAAAGTGATATCCAGTGACATCTAACTTTCATGGATGTATGTGACAGTGT TCAAGTTAAAAAATAAAAGTTTGTTTTAAATGAATAAACTGAAA	chrX	120948282	120961600
a0001c0001t0002	1/0	1294	4	0	0	2	0	1	CT47A7_chrX_120948282_120961600	CT47A7	ACCAG others(1289): Show ACCAGAATCTTTCCCGCCTTATCTAAGTCCTCTCAGGCCAGACTTGGTGG GAGGTTCCTAGGATTCGCTCCCTGCCCTTCCCACCTTAGGGTGTCCTCTG AGACAGACTCTTATTTCCTCAATAAAGAGAAAGACTCTTATTCCCTCAGC GGCCAGCTCCTCGCCTCCCCTCGGCCGTAGCCACCTCAGTGGTCACCGTC TTCACCGTGGTCGCCTCAGCCCGCTCGCCACCCCAGTTGAGGCGCTGCTG GTGTCATGTCTGCCACAGGGGACCGACACCCGACCCAAGGGGACCAGGAG GCCCCGGTAAGCCAGGAGGGAGCACAGGCCGAGGCGGCCGGAGCTGGTAA CCAGGAGGGCGGCGACTCCGGCCCCGACAGCAGCGACGTGGTGCCTGCGG CCGAGGTGGTCGGAGTCGCAGGGCCCGTGGAAGGCCTCGGGGAGGAGGAG GGTGAGCAGGCGGCAGGCCTGGCCGCAGTCCCCCGGGGCGGGAGCGCCGA GGAGGACTCAGATATCGGGCCCGCGACGGAGGAAGAGGAGGAGGAAGAGG GGAACGAGGCGGCCAACTTCGACTTGGCGGTGGTCGCCCGTCGCTACCCG GCGTCGGGCATTCACTTCGTGCTCCTGGACATGGTCCACTCCCTTCTCCA CCGCCTCTCTCACAACGACCACATCCTCATAGAGAACCGTCAACTCAGCC GCCTGATGGTGGGGCCACACGCTGCTGCGCGCAACCTCTGGGGCAACCTC CCCCCGCTGCTGCTGCCCCAGAGGCTGGGTGCAGGGGCCGCAGCCCGGGC GGGCGAGGGCCTGGGCCTGATCCAGGAGGCCGCATCGGTCCCAGAGCCTG CAGTGCCAGCTGACCTGGCCGAGATGGCCAGGGAGCCCGCGGAGGAGGCC GCAGAGGAGAAGCTCTCAGAGGAGGCCACAGAGGAACCAGACGCAGAGGA ACCGGCCACAGAAGAACCGACCGCACAGGAGGCCACGGCCCCAGAGGAAG TCACTAAATCTCAGCCCGAAAAGTGGGATGAAGAGGCCCAAGATGCTGCA GGCGAGGAAGAGAAAGAACAAGAAAAAGAGAAGGATGCGGAAAACAAGGT GAAGAACTCCAAAGGGACCTAGACGCAGCAGAGGTGAAGCCAAGAAAATC CAGATGCCTGTGGGAATTGTAACACATATCATTCCAAAGTTCGTTACATC AAAAGTGATATCCAGTGACATCTAACTTTCATGGATGTATGTGACAGTGT TCAAGTTAAAAAATAAAAGTTTGTTTTAAATGAATAAACTGAAA	chrX	120948282	120961600
a0002c0002t0002	0/0	1312	1	0	0	0	1	0	CT47A7_chrX_120948282_120961600	CT47A7	ACCAG others(1307): Show ACCAGAATCTTTCCCGCCTTATCTAAGTCCTCTCAGGCCAGACTTGGTGG GAGGTTCCTAGGATTCGCTCCCTGCCCTTCCCACCTTAGGGTGTCCTCTG AGACAGACTCTTATTTCCTCAATAAAGAGAAAGACTCTTATTCCCTCAGC GGCCAGCTCCTCGCCTCCCCTCGGCCGTAGCCACCTCAGTGGTCACCGTC TTCACCGTGGTCGCCTCAGCCCGCTCGCCACCCCAGTTGAGGCGCTGCTG GTGTCATGTCTGCCACAGGGGACCGACACCCGACCCAAGGGGACCAGGAG GCCCCGGTAAGCCAGGAGGGAGCACAGGCCGAGGCGGCCGGAGCTGGTAA CCAGGAGGGCGGCGACTCCGGCCCCGACAGCAGCGACATGGTGCCTGCGG CCGAGGTGGTCGGAGTCGCAGGGCCCGTGGAAGGCCTCGGGGAGGAGGAG GGTGAGCAGGCGGCAGGCCTGGCCGCAGTCCCCCAGGGCGGGAGCGCCGA GGAGGACTCAGATATCGGGCCCGCGACGGAGGAAGAGGAGGAGGAAGAGG GGAACGAGGCGGCCAACTTCGACTTGGCGGTGGCCACCCGTCGGTACCCG GCGGCGGGCATTGGCTTCGTGTTCCTGTACCTGGTCCACTCCCTTCTCCG CCGCCTCTATCACAACGACCACATCCAGATAGCGAACCGTCACCTCAGCC GCCTGATGGTGGGGCCCCACGCTGCTGTGCCCAACCTCTGGGACAACCCT CCCCTGCTGCTGCTGTCCCAGAGGCTGGGTGCAGGGGCTGCAGCCCCGGA AGGCGAGGGCCTCGGCCTGATCCAGGAGGCTGCGTCGGTCCAGGAGGCCG CGTCGGTCCCAGAGCCTGCAGTGCCAGCTGACCTGGCCGAGATGGCCAGG GAGCCCGCGGAGGAGGCCGCAGATGAGAAACCCCCAGAGGAGGCCGCAGA GGAGACAGAGGCAGAGGAACCGGCCGCAGAGGAACCGACCTCAGAGGAGG CCGTGGCCCCCGAGGAAGTCACTAAATCTCAGCCCGAAAAGTGGGATGAA GAGGCCCAAGATGCTGCAGGCGAGGAAGAGAAAGAACAAGAAAAAGAGAA GGATGTGGAAAACAAGGTGAAGAACTCCAAAGGGACCTAGACGCAGCAGA GGTGAAGCCAAGAAAATCCAGATGCCTGTGGGAATTGTAACACATATCAT TCCAAAGTTCGTTACATCAAAAGTGATATCCAGTGACATCTAACTTTCAT GGATGTATGTGACAGTGTTCAAGTTAAAAAATAAAAGTTTGTTTTAAATG AATAAACTGAAA	chrX	120948282	120961600

actghapid	grch38/ chm13v2	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	chr	start	end
a0001c0001t0001g0001	0/0	4	0	0	0	1	3	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
a0001c0001t0001g0002	0/0	4	2	1	0	1	0	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
a0001c0001t0001g0003	0/0	3	0	0	3	0	0	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
a0001c0001t0001g0005	0/0	2	0	0	1	0	1	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
a0001c0001t0001g0006	0/0	1	0	0	0	0	1	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
a0001c0001t0002g0004	1/0	3	0	0	2	0	0	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
a0001c0001t0002g0008	0/0	1	0	0	0	0	1	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
a0002c0002t0002g0007	0/0	1	0	0	0	1	0	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600

sampleid	ID haplotypeid	ahapid	chapid	thapid	ghapid	gpopname	popname	regionname	genename	chr	start	end
HG00140	hp1	a0002	c0002	t0002	g0007	EUR	GBR	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
HG00280	hp1	a0001	c0001	t0001	g0002	EUR	FIN	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
HG00621	hp1	a0001	c0001	t0001	g0003	EAS	CHS	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
HG01358	hp1	a0001	c0001	t0001	g0002	AMR	CLM	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
HG02056	hp1	a0001	c0001	t0001	g0003	EAS	KHV	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
HG03831	hp1	a0001	c0001	t0001	g0001	SAS	BEB	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
HG03831	hp2	a0001	c0001	t0002	g0008	SAS	BEB	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
HG03927	hp1	a0001	c0001	t0001	g0005	SAS	BEB	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
HG03927	hp2	a0001	c0001	t0001	g0006	SAS	BEB	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
HG03942	hp1	a0001	c0001	t0001	g0001	SAS	BEB	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
HG04204	hp1	a0001	c0001	t0001	g0001	SAS	STU	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
NA18946	hp1	a0001	c0001	t0001	g0003	EAS	JPT	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
NA18946	hp2	a0001	c0001	t0002	g0004	EAS	JPT	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
NA19004	hp1	a0001	c0001	t0002	g0004	EAS	JPT	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
NA19043	hp1	a0001	c0001	t0001	g0002	AFR	LWK	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
NA19088	hp1	a0001	c0001	t0001	g0005	EAS	JPT	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
NA20805	hp1	a0001	c0001	t0001	g0001	EUR	TSI	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
HG02486	hp1	a0001	c0001	t0001	g0002	AFR	ACB	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
homoSapiens	grch38p0	a0001	c0001	t0002	g0004	REF	REF	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600

chr:pos	ref	alt	# # of ahapid:amino-acid(protein) level	ahapids	# # of haplotypeids	haplotypeids	annotation	impact	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	pos
chrX:120954626	G G	A A	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.833C>T c.833C>T	p.Ala278Val p.Ala278Val	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	2/3	1088/1294	833/867	278/288	chrX	120954626
chrX:120955615	G G	A A	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.731C>T c.731C>T	p.Thr244Met p.Thr244Met	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	986/1294	731/867	244/288	chrX	120955615
chrX:120955616	T T	C C	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.730A>G c.730A>G	p.Thr244Ala p.Thr244Ala	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	985/1294	730/867	244/288	chrX	120955616
chrX:120955625	G G	C C	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.721C>G c.721C>G	p.Gln241Glu p.Gln241Glu	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	976/1294	721/867	241/288	chrX	120955625
chrX:120955628	C C	A A	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.718G>T c.718G>T	p.Ala240Ser p.Ala240Ser	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	973/1294	718/867	240/288	chrX	120955628
chrX:120955643	T T	C C	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.703A>G c.703A>G	p.Thr235Ala p.Thr235Ala	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	958/1294	703/867	235/288	chrX	120955643
chrX:120955659	G G	C C	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.687C>G c.687C>G	p.Asp229Glu p.Asp229Glu	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	942/1294	687/867	229/288	chrX	120955659
chrX:120955664	G G	T T	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.682C>A c.682C>A	p.Pro228Thr p.Pro228Thr	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	937/1294	682/867	228/288	chrX	120955664
chrX:120955673	T T	C C	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.673A>G c.673A>G	p.Thr225Ala p.Thr225Ala	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	928/1294	673/867	225/288	chrX	120955673
chrX:120955685	A A	G G	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.661T>C c.661T>C	p.Ser221Pro p.Ser221Pro	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	916/1294	661/867	221/288	chrX	120955685
chrX:120955687	A A	G G	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.659T>C c.659T>C	p.Leu220Pro p.Leu220Pro	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	914/1294	659/867	220/288	chrX	120955687
chrX:120955695	C C	A A	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.651G>T c.651G>T	p.Glu217Asp p.Glu217Asp	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	906/1294	651/867	217/288	chrX	120955695
chrX:120955770	G G	GGCCTCCT others(11): Show GGCCTCCTGGACCGACGCA	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	disruptive_inframe_insertion	MODERATE	c.575_576insTGCGTCGG others(10): Show c.575_576insTGCGTCGGTCCAGGAGGC	p.Ala192_Ala193insAl others(16): Show p.Ala192_Ala193insAlaSerValGlnGluAla	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	830/1294	575/867	192/288	chrX	120955770
chrX:120955801	G G	T T	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.545C>A c.545C>A	p.Ala182Glu p.Ala182Glu	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	800/1294	545/867	182/288	chrX	120955801
chrX:120955804	C C	G G	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.542G>C c.542G>C	p.Arg181Pro p.Arg181Pro	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	797/1294	542/867	181/288	chrX	120955804
chrX:120955835	G G	A A	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.511C>T c.511C>T	p.Pro171Ser p.Pro171Ser	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	766/1294	511/867	171/288	chrX	120955835
chrX:120955846	G G	A A	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.500C>T c.500C>T	p.Pro167Leu p.Pro167Leu	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	755/1294	500/867	167/288	chrX	120955846
chrX:120955852	A A	G G	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.494T>C c.494T>C	p.Leu165Pro p.Leu165Pro	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	749/1294	494/867	165/288	chrX	120955852
chrX:120955858	C C	T T	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.488G>A c.488G>A	p.Gly163Asp p.Gly163Asp	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	743/1294	488/867	163/288	chrX	120955858
chrX:120955870	C C	G G	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.476G>C c.476G>C	p.Arg159Pro p.Arg159Pro	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	731/1294	476/867	159/288	chrX	120955870
chrX:120955873	G G	A A	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.473C>T c.473C>T	p.Ala158Val p.Ala158Val	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	728/1294	473/867	158/288	chrX	120955873
chrX:120955908	T T	G G	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.438A>C c.438A>C	p.Gln146His p.Gln146His	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	693/1294	438/867	146/288	chrX	120955908
chrX:120955918	T T	G G	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.428A>C c.428A>C	p.Glu143Ala p.Glu143Ala	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	683/1294	428/867	143/288	chrX	120955918
chrX:120955924	A A	T T	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.422T>A c.422T>A	p.Leu141His p.Leu141His	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	677/1294	422/867	141/288	chrX	120955924
chrX:120955942	G G	T T	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.404C>A c.404C>A	p.Ser135Tyr p.Ser135Tyr	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	659/1294	404/867	135/288	chrX	120955942
chrX:120955951	T T	C C	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.395A>G c.395A>G	p.His132Arg p.His132Arg	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	650/1294	395/867	132/288	chrX	120955951
chrX:120955970	T T	G G	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.376A>C c.376A>C	p.Met126Leu p.Met126Leu	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	631/1294	376/867	126/288	chrX	120955970
chrX:120955973	C C	A A	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.373G>T c.373G>T	p.Asp125Tyr p.Asp125Tyr	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	628/1294	373/867	125/288	chrX	120955973
chrX:120955979	G G	A A	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.367C>T c.367C>T	p.Leu123Phe p.Leu123Phe	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	622/1294	367/867	123/288	chrX	120955979
chrX:120955987	T T	C C	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.359A>G c.359A>G	p.His120Arg p.His120Arg	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	614/1294	359/867	120/288	chrX	120955987
chrX:120955988	G G	C C	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.358C>G c.358C>G	p.His120Asp p.His120Asp	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	613/1294	358/867	120/288	chrX	120955988
chrX:120955997	A A	C C	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.349T>G c.349T>G	p.Ser117Ala p.Ser117Ala	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	604/1294	349/867	117/288	chrX	120955997
chrX:120956015	C C	T T	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.331G>A c.331G>A	p.Ala111Thr p.Ala111Thr	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	586/1294	331/867	111/288	chrX	120956015
chrX:120956017	A A	G G	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.329T>C c.329T>C	p.Val110Ala p.Val110Ala	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	584/1294	329/867	110/288	chrX	120956017
chrX:120956116	C C	T T	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.230G>A c.230G>A	p.Arg77Gln p.Arg77Gln	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	485/1294	230/867	77/288	chrX	120956116
chrX:120956213	C C	T T	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.133G>A c.133G>A	p.Val45Met p.Val45Met	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	388/1294	133/867	45/288	chrX	120956213

chr:pos	ref	alt	# # of chapid	chapids	# # of haplotypeids	haplotypeids	annotation	impact	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	pos
chrX:120955608	T T	G G	1	a0002c0002 a0002c0002	1	HG00140.hp1 HG00140.hp1	synonymous_variant	LOW	c.738A>C c.738A>C	p.Pro246Pro p.Pro246Pro	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	993/1294	738/867	246/288	chrX	120955608
chrX:120955638	T T	C C	1	a0002c0002 a0002c0002	1	HG00140.hp1 HG00140.hp1	synonymous_variant	LOW	c.708A>G c.708A>G	p.Glu236Glu p.Glu236Glu	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	963/1294	708/867	236/288	chrX	120955638
chrX:120955665	T T	C C	1	a0002c0002 a0002c0002	1	HG00140.hp1 HG00140.hp1	synonymous_variant	LOW	c.681A>G c.681A>G	p.Glu227Glu p.Glu227Glu	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	936/1294	681/867	227/288	chrX	120955665
chrX:120955689	C C	T T	1	a0002c0002 a0002c0002	1	HG00140.hp1 HG00140.hp1	synonymous_variant	LOW	c.657G>A c.657G>A	p.Lys219Lys p.Lys219Lys	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	912/1294	657/867	219/288	chrX	120955689
chrX:120955767	T T	C C	1	a0002c0002 a0002c0002	1	HG00140.hp1 HG00140.hp1	synonymous_variant	LOW	c.579A>G c.579A>G	p.Ala193Ala p.Ala193Ala	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	834/1294	579/867	193/288	chrX	120955767
chrX:120955788	C C	G G	1	a0002c0002 a0002c0002	1	HG00140.hp1 HG00140.hp1	synonymous_variant	LOW	c.558G>C c.558G>C	p.Leu186Leu p.Leu186Leu	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	813/1294	558/867	186/288	chrX	120955788
chrX:120955800	C C	T T	1	a0002c0002 a0002c0002	1	HG00140.hp1 HG00140.hp1	synonymous_variant	LOW	c.546G>A c.546G>A	p.Ala182Ala p.Ala182Ala	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	801/1294	546/867	182/288	chrX	120955800
chrX:120955812	G G	A A	1	a0002c0002 a0002c0002	1	HG00140.hp1 HG00140.hp1	synonymous_variant	LOW	c.534C>T c.534C>T	p.Ala178Ala p.Ala178Ala	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	789/1294	534/867	178/288	chrX	120955812
chrX:120955851	G G	A A	1	a0002c0002 a0002c0002	1	HG00140.hp1 HG00140.hp1	synonymous_variant	LOW	c.495C>T c.495C>T	p.Leu165Leu p.Leu165Leu	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	750/1294	495/867	165/288	chrX	120955851
chrX:120955884	T T	G G	1	a0002c0002 a0002c0002	1	HG00140.hp1 HG00140.hp1	synonymous_variant	LOW	c.462A>C c.462A>C	p.Pro154Pro p.Pro154Pro	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	717/1294	462/867	154/288	chrX	120955884
chrX:120955923	G G	C C	1	a0002c0002 a0002c0002	1	HG00140.hp1 HG00140.hp1	synonymous_variant	LOW	c.423C>G c.423C>G	p.Leu141Leu p.Leu141Leu	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	678/1294	423/867	141/288	chrX	120955923
chrX:120956007	G G	C C	1	a0002c0002 a0002c0002	1	HG00140.hp1 HG00140.hp1	synonymous_variant	LOW	c.339C>G c.339C>G	p.Arg113Arg p.Arg113Arg	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	594/1294	339/867	113/288	chrX	120956007

chr:pos	ref	alt	# # of thapid:transcript level	thapids	# # of haplotypeids	haplotypeids	annotation	impact	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	chr	pos
chrX:120956470	T T	C C	1	a0001c0001t0001 a0001c0001t0001	14	HG00280.hp1 HG00621.hp1 HG01358.hp1 others(11): Show HG00280.hp1 HG00621.hp1 HG01358.hp1 HG02056.hp1 HG02486.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 NA18946.hp1 NA19043.hp1 NA19088.hp1 NA20805.hp1	5_prime_UTR_variant	MODIFIER	c.-125A>G c.-125A>G	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	125	chrX	120956470
chrX:120956485	A A	G G	1	a0001c0001t0001 a0001c0001t0001	14	HG00280.hp1 HG00621.hp1 HG01358.hp1 others(11): Show HG00280.hp1 HG00621.hp1 HG01358.hp1 HG02056.hp1 HG02486.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 NA18946.hp1 NA19043.hp1 NA19088.hp1 NA20805.hp1	5_prime_UTR_variant	MODIFIER	c.-140T>C c.-140T>C	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	140	chrX	120956485
chrX:120956505	G G	C C	1	a0001c0001t0001 a0001c0001t0001	14	HG00280.hp1 HG00621.hp1 HG01358.hp1 others(11): Show HG00280.hp1 HG00621.hp1 HG01358.hp1 HG02056.hp1 HG02486.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 NA18946.hp1 NA19043.hp1 NA19088.hp1 NA20805.hp1	5_prime_UTR_variant	MODIFIER	c.-160C>G c.-160C>G	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	160	chrX	120956505
chrX:120956517	G G	A A	1	a0001c0001t0001 a0001c0001t0001	14	HG00280.hp1 HG00621.hp1 HG01358.hp1 others(11): Show HG00280.hp1 HG00621.hp1 HG01358.hp1 HG02056.hp1 HG02486.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 NA18946.hp1 NA19043.hp1 NA19088.hp1 NA20805.hp1	5_prime_UTR_variant	MODIFIER	c.-172C>T c.-172C>T	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	172	chrX	120956517
chrX:120956544	G G	A A	1	a0001c0001t0001 a0001c0001t0001	14	HG00280.hp1 HG00621.hp1 HG01358.hp1 others(11): Show HG00280.hp1 HG00621.hp1 HG01358.hp1 HG02056.hp1 HG02486.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 NA18946.hp1 NA19043.hp1 NA19088.hp1 NA20805.hp1	5_prime_UTR_variant	MODIFIER	c.-199C>T c.-199C>T	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	199	chrX	120956544
chrX:120956559	T T	G G	1	a0001c0001t0001 a0001c0001t0001	14	HG00280.hp1 HG00621.hp1 HG01358.hp1 others(11): Show HG00280.hp1 HG00621.hp1 HG01358.hp1 HG02056.hp1 HG02486.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 NA18946.hp1 NA19043.hp1 NA19088.hp1 NA20805.hp1	5_prime_UTR_variant	MODIFIER	c.-214A>C c.-214A>C	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	214	chrX	120956559
chrX:120956580	T T	C C	1	a0001c0001t0001 a0001c0001t0001	14	HG00280.hp1 HG00621.hp1 HG01358.hp1 others(11): Show HG00280.hp1 HG00621.hp1 HG01358.hp1 HG02056.hp1 HG02486.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 NA18946.hp1 NA19043.hp1 NA19088.hp1 NA20805.hp1	5_prime_UTR_premature_start_codon_gain_variant	LOW	c.-235A>G c.-235A>G	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3		chrX	120956580
chrX:120956584	G G	T T	1	a0001c0001t0001 a0001c0001t0001	14	HG00280.hp1 HG00621.hp1 HG01358.hp1 others(11): Show HG00280.hp1 HG00621.hp1 HG01358.hp1 HG02056.hp1 HG02486.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 NA18946.hp1 NA19043.hp1 NA19088.hp1 NA20805.hp1	5_prime_UTR_variant	MODIFIER	c.-239C>A c.-239C>A	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	239	chrX	120956584
chrX:120956585	C C	T T	1	a0001c0001t0001 a0001c0001t0001	14	HG00280.hp1 HG00621.hp1 HG01358.hp1 others(11): Show HG00280.hp1 HG00621.hp1 HG01358.hp1 HG02056.hp1 HG02486.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 NA18946.hp1 NA19043.hp1 NA19088.hp1 NA20805.hp1	5_prime_UTR_variant	MODIFIER	c.-240G>A c.-240G>A	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	240	chrX	120956585

chr:pos	ref	alt	# # of ghapid:genebody level	ghapids	# # of haplotypeids	haplotypeids	annotation	impact	hgvs_c	genename	geneid	featuretype	featureid	genebody_biotype	rank	chr	pos
chrX:120953476	A A	G G	1	a0001c0001t0001g0001 a0001c0001t0001g0001	4	HG03831.hp1 HG03942.hp1 HG04204.hp1 others(1): Show HG03831.hp1 HG03942.hp1 HG04204.hp1 NA20805.hp1	intron_variant	MODIFIER	c.32-54T>C c.32-54T>C	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	2/2	chrX	120953476
chrX:120953808	A A	G G	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.32-386T>C c.32-386T>C	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	2/2	chrX	120953808
chrX:120953945	C C	T T	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.32-523G>A c.32-523G>A	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	2/2	chrX	120953945
chrX:120953955	T T	C C	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.32-533A>G c.32-533A>G	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	2/2	chrX	120953955
chrX:120953956	G G	A A	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.32-534C>T c.32-534C>T	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	2/2	chrX	120953956
chrX:120954065	A A	G G	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.31+496T>C c.31+496T>C	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	2/2	chrX	120954065
chrX:120954066	T T	C C	4	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0002g0008	7	HG00621.hp1 HG02056.hp1 HG03831.hp2 others(4): Show HG00621.hp1 HG02056.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 NA18946.hp1 NA19088.hp1	intron_variant	MODIFIER	c.31+495A>G c.31+495A>G	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	2/2	chrX	120954066
chrX:120954071	C C	A A	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.31+490G>T c.31+490G>T	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	2/2	chrX	120954071
chrX:120954187	C C	T T	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.31+374G>A c.31+374G>A	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	2/2	chrX	120954187
chrX:120954349	G G	A A	5	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0002g0008 a0002c0002t0002g0007	13	HG00140.hp1 HG00280.hp1 HG00621.hp1 others(10): Show HG00140.hp1 HG00280.hp1 HG00621.hp1 HG01358.hp1 HG02056.hp1 HG02486.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04204.hp1 NA18946.hp1 NA19043.hp1 NA20805.hp1	intron_variant	MODIFIER	c.31+212C>T c.31+212C>T	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	2/2	chrX	120954349
chrX:120954534	G G	C C	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.31+27C>G c.31+27C>G	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	2/2	chrX	120954534
chrX:120955018	C C	T T	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.743-302G>A c.743-302G>A	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955018
chrX:120955031	C C	T T	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.743-315G>A c.743-315G>A	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955031
chrX:120955120	C C	T T	4	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0008 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0008 a0002c0002t0002g0007	10	HG00140.hp1 HG00280.hp1 HG01358.hp1 others(7): Show HG00140.hp1 HG00280.hp1 HG01358.hp1 HG02486.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04204.hp1 NA19043.hp1 NA20805.hp1	intron_variant	MODIFIER	c.743-404G>A c.743-404G>A	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955120
chrX:120955126	C C	T T	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.743-410G>A c.743-410G>A	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955126
chrX:120955150	C C	T T	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.743-434G>A c.743-434G>A	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955150
chrX:120955213	T T	C C	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+391A>G c.742+391A>G	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955213
chrX:120955218	G G	A A	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+386C>T c.742+386C>T	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955218
chrX:120955220	G G	C C	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+384C>G c.742+384C>G	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955220
chrX:120955227	G G	C C	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+377C>G c.742+377C>G	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955227
chrX:120955245	TCCTTGGC others(5): Show TCCTTGGCGCATC	T T	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+347_742+358del others(12): Show c.742+347_742+358delGATGCGCCAAGG	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955245
chrX:120955301	C C	T T	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+303G>A c.742+303G>A	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955301
chrX:120955316	G G	A A	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+288C>T c.742+288C>T	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955316
chrX:120955322	A A	G G	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+282T>C c.742+282T>C	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955322
chrX:120955332	C C	T T	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+272G>A c.742+272G>A	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955332
chrX:120955377	A A	G G	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+227T>C c.742+227T>C	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955377
chrX:120955396	C C	T T	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+208G>A c.742+208G>A	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955396
chrX:120955404	G G	A A	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+200C>T c.742+200C>T	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955404
chrX:120955428	T T	C C	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+176A>G c.742+176A>G	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955428
chrX:120955441	T T	A A	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+163A>T c.742+163A>T	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955441
chrX:120955464	C C	A A	1	a0001c0001t0001g0006 a0001c0001t0001g0006	1	HG03927.hp2 HG03927.hp2	intron_variant	MODIFIER	c.742+140G>T c.742+140G>T	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955464
chrX:120955465	G G	A A	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+139C>T c.742+139C>T	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955465
chrX:120955468	T T	A A	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+136A>T c.742+136A>T	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955468
chrX:120955522	A A	G G	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+82T>C c.742+82T>C	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955522
chrX:120955533	G G	A A	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+71C>T c.742+71C>T	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955533
chrX:120955535	G G	A A	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+69C>T c.742+69C>T	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955535
chrX:120955544	T T	C C	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+60A>G c.742+60A>G	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955544
chrX:120955548	A A	G G	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+56T>C c.742+56T>C	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955548
chrX:120955553	G G	T T	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+51C>A c.742+51C>A	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955553
chrX:120955561	C C	T T	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+43G>A c.742+43G>A	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955561
chrX:120955564	G G	A A	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+40C>T c.742+40C>T	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955564
chrX:120955572	C C	T T	1	a0002c0002t0002g0007 a0002c0002t0002g0007	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+32G>A c.742+32G>A	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955572

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JoGo Haplotype Explorer

CT47A7_chrX_120948282_120961600 Genic Haplotype Structure on iGV

Translation Multiple Alignment View

Gene Summary (with MANE)

Amino acid(protein) Level Haplotype Info (Total: 2)

Coding Level Haplotype Info (Total: 2)

Transcript Level Haplotype Info (Total: 3)

Genebody Level Haplotype Info (Total: 8)

Haplotype Details by Sample (Haploid Level) (Total: 19)

Amino acid(protein) Level Haplotype Related Variants (Effect to Protein Coding Variants) (Total: 36)

Coding Level Variants (On coding region but no effect to protein coding variants: Synonymous Mutations) (Total: 12)

Transcript Level Haplotype Variants (Exon) (Total: 9)

Genebody Level Haplotype Variants (Intron) (Total: 42)

Annotation (Repeats)

Annotation (SNP Array)