Joint Open Genome and Omics Platform (JoGo)

Search by Genic region

Item	Value
geneid	728226
ensemblid	ENSG00000274252.1
hgncid	33426
symbol	GGTLC3
name	gamma-glutamyltransferase light chain family member 3
refseq_nuc	NM_001355479.1
refseq_prot	NP_001342408.1
ensembl_nuc	ENST00000619998.1
ensembl_prot	ENSP00000477856.1
mane_status	MANE Select
chr	chr22
start	18516344
end	18518161
strand	-
ver	v1.2
region	chr22:18516344-18518161
region5000	chr22:18511344-18523161
regionname0	GGTLC3_chr22_18516344_18518161
regionname5000	GGTLC3_chr22_18511344_18523161

ahapid	grch38/ chm13v2	alen	total	AFR	AMR	EAS	SAS	JPT	regionname	genename	aa	chr	start	end
a0001	0/0	225	26	5	7	13	1	11	GGTLC3_chr22_18511344_18523161	GGTLC3	MTSEF others(220): Show MTSEFFAAQLRSQISDHTTHPISYYKPEFYTPDDGGTAHLSVVAEDGSAV SATSTINLYFGSKVCSPVSGILFNNEWTTSALPAFTNEFGAPPSPANFIQ PGKQPLLSMCPTIMVGQDGQVRMVVGAAGGTQITTDTALAIIYNLWFGYD VKRAVEEPRLHNKLLPNVTTVERNIDQAVTAALETRHHHTQIASTFIAVV QAIVRTAGGWAAASDSRKGGEPAGY	chr22	18511344	18523161
a0002	0/0	225	3	0	0	3	0	3	GGTLC3_chr22_18511344_18523161	GGTLC3	MTSEF others(220): Show MTSEFFAAQLRSQISDHTTHPISYDKPEFYTPDDGGTAHLSVVAEDGSAV SATSTINLYFGSKVCSPVSGILFNNEWTTSALPAFTNEFGAPPSPANFIQ PGKQPLLSMCPTIMVGQDGQVRMVVGAAGGTQITTDTALAIIYNLWFGYD VKRAVEEPRLHNKLLPNVTTVERNIDQAVTAALETRHHHTQIASTFIAVV QAIVRTAGGWAAASDSRKGGEPAGY	chr22	18511344	18523161
a0003	0/0	225	2	1	1	0	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	MTSEF others(220): Show MTSEFFAAQLRSQISDHTTHPISYYKPEFYTPDDGGTAHLSVVAEDGSAV SATSTINLYFGSKVCSPVSGILFNNEWTTSALPAFTNEFGAPPSPANFIQ PGKQPLLSMCPTIMVGQDGQVRMVVGAAAGTQITTDTALAIIYNLWFGYD VKRAVEEPRLHNKLLPNVTTVERNIDQAVTAALETQHHHTQIASTFIAVV QAIVRTAGGWAAASDSRKGGEPAGY	chr22	18511344	18523161
a0004	0/0	58	1	0	0	0	1	0	GGTLC3_chr22_18511344_18523161	GGTLC3	MTSEF others(53): Show MTSEFFAAQLRSQISDHTTHPISYYKPEFYTLDDGGTAHLSVVAEDGSAV SATSTINL	chr22	18511344	18523161
a0005	0/0	225	1	1	0	0	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	MTSEF others(220): Show MTSEFFAAQLRSQISDHTTHPISYYKPEFYTPDDGGTAHLSVVAEDRSAV SATSTINLYFGSKVCSPVSGILFNNEWTTSALPAFTNEFGAPPSPANFIQ PGKQPLLSMCLTIMVGQDGQVRMVVGAAGGTQITTDTALAIIYNLWFGYD VKRAVEEPRLHNKLLPNVTTVERNIDQAVTAALETRHHHTQIASTFIAVV QAIVRTAGGWAAASDSRKGGEPAGY	chr22	18511344	18523161
a0006	0/0	225	1	1	0	0	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	MTSEF others(220): Show MTSEFFAAQLRSQISDHTTHPISYYKPEFYTPDDGGTAHLSVVAEDGSAV SATSTINLYFGSKVCSPVSGILFNNEWTTSALPAFTNEFGAPPSPANFIQ PGKQPLLSMCLTIMVGQDGQVRMVVGAAGGTQITTDTALAIIYNLWFGYD VKRAVEEPRLHNKLLPNVTTVERNIDQAVTAALETRHHHTQIASTFIAVV QAIVRTAGGWAAASDSRKGGEPAGY	chr22	18511344	18523161

achapid	grch38/ chm13v2	clen	total	AFR	AMR	EAS	SAS	regionname	genename	cseq	chr	start	end
a0001c0001	0/0	675	26	5	7	13	1	GGTLC3_chr22_18511344_18523161	GGTLC3	ATGAC others(670): Show ATGACCTCTGAGTTCTTCGCTGCCCAGCTCCGGTCCCAGATCTCTGACCA CACCACTCACCCGATCTCCTACTACAAGCCCGAGTTCTACACGCCGGATG ACGGGGGCACTGCTCACCTGTCTGTCGTCGCAGAGGACGGCAGTGCTGTG TCCGCCACCAGCACCATCAACCTCTACTTTGGCTCCAAGGTCTGCTCCCC GGTCAGTGGGATCCTGTTCAATAATGAATGGACGACTTCAGCTCTCCCAG CATTCACCAATGAGTTTGGGGCACCCCCCTCACCTGCCAATTTCATCCAG CCAGGGAAGCAGCCGCTCTTGTCCATGTGCCCGACGATCATGGTGGGCCA GGACGGCCAGGTCCGGATGGTGGTGGGAGCTGCTGGGGGCACGCAGATCA CCACAGACACTGCACTGGCCATCATCTACAACCTCTGGTTCGGCTATGAC GTGAAGAGGGCCGTGGAGGAGCCCCGGCTGCACAACAAGCTTCTGCCCAA CGTCACGACAGTGGAGAGAAACATTGACCAGGCAGTGACTGCAGCCCTGG AGACCCGGCACCATCACACCCAGATCGCATCCACCTTCATCGCTGTGGTG CAAGCCATCGTCCGCACGGCTGGTGGCTGGGCAGCTGCCTCGGACTCCAG GAAAGGCGGGGAACCTGCTGGCTAC	chr22	18511344	18523161
a0002c0002	0/0	675	3	0	0	3	0	GGTLC3_chr22_18511344_18523161	GGTLC3	ATGAC others(670): Show ATGACCTCTGAGTTCTTCGCTGCCCAGCTCCGGTCCCAGATCTCTGACCA CACCACTCACCCGATCTCCTACGACAAGCCCGAGTTCTACACGCCGGATG ACGGGGGCACTGCTCACCTGTCTGTCGTCGCAGAGGACGGCAGTGCTGTG TCCGCCACCAGCACCATCAACCTCTACTTTGGCTCCAAGGTCTGCTCCCC GGTCAGTGGGATCCTGTTCAATAATGAATGGACGACTTCAGCTCTCCCAG CATTCACCAATGAGTTTGGGGCACCCCCCTCACCTGCCAATTTCATCCAG CCAGGGAAGCAGCCGCTCTTGTCCATGTGCCCGACGATCATGGTGGGCCA GGACGGCCAGGTCCGGATGGTGGTGGGAGCTGCTGGGGGCACGCAGATCA CCACAGACACTGCACTGGCCATCATCTACAACCTCTGGTTCGGCTATGAC GTGAAGAGGGCCGTGGAGGAGCCCCGGCTGCACAACAAGCTTCTGCCCAA CGTCACGACAGTGGAGAGAAACATTGACCAGGCAGTGACTGCAGCCCTGG AGACCCGGCACCATCACACCCAGATCGCATCCACCTTCATCGCTGTGGTG CAAGCCATCGTCCGCACGGCTGGTGGCTGGGCAGCTGCCTCGGACTCCAG GAAAGGCGGGGAACCTGCTGGCTAC	chr22	18511344	18523161
a0003c0003	0/0	675	2	1	1	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	ATGAC others(670): Show ATGACCTCTGAGTTCTTCGCTGCCCAGCTCCGGTCCCAGATCTCTGACCA CACCACTCACCCGATCTCCTACTACAAGCCCGAGTTCTACACGCCGGATG ACGGGGGCACTGCTCACCTGTCTGTCGTCGCAGAGGACGGCAGTGCTGTG TCCGCCACCAGCACCATCAACCTCTACTTTGGCTCCAAGGTCTGCTCCCC GGTCAGTGGGATCCTGTTCAATAATGAATGGACGACTTCAGCTCTCCCAG CATTCACCAATGAGTTTGGGGCACCCCCCTCACCTGCCAATTTCATCCAG CCAGGGAAGCAGCCGCTCTTGTCCATGTGCCCGACGATCATGGTGGGCCA GGACGGCCAGGTCCGGATGGTGGTGGGAGCTGCTGCGGGCACGCAGATCA CCACAGACACTGCACTGGCCATCATCTACAACCTCTGGTTCGGCTATGAC GTGAAGAGGGCCGTGGAGGAGCCCCGGCTGCACAACAAGCTTCTGCCCAA CGTCACGACAGTGGAGAGAAACATTGACCAGGCAGTGACTGCAGCCCTGG AGACCCAGCACCATCACACCCAGATCGCGTCCACCTTCATCGCTGTGGTG CAAGCCATCGTCCGCACGGCTGGTGGCTGGGCAGCTGCCTCGGACTCCAG GAAAGGCGGGGAACCTGCTGGCTAC	chr22	18511344	18523161
a0004c0006	0/0	675	1	0	0	0	1	GGTLC3_chr22_18511344_18523161	GGTLC3	ATGAC others(670): Show ATGACCTCTGAGTTCTTCGCTGCCCAGCTCCGGTCCCAGATCTCTGACCA CACCACTCACCCGATCTCCTACTACAAGCCCGAGTTCTACACGCTGGATG ACGGGGGCACTGCTCACCTGTCTGTCGTCGCAGAGGACGGCAGTGCTGTG TCCGCCACCAGCACCATCAACCTCTAATTTGGCTCCAAGGTCTGCTCCCC GGTCAGTGGGATCCTGTTCAATAATGAATGGACGACTTCAGCTCTCCCAG CATTCACCAATGAGTTTGGGGCACCCCCCTCACCTGCCAATTTCATCCAG CCAGGGAAGCAGCCGCTCTTGTCTATGTGCCCGACGATCATGGTGGGCCA GGACGGCCAGGTCCGGATGGTGGTGGGAGCTGCTGGGGGCACGCAGATCA CCACAGACACTGCACTGGCCATCATCTACAACCTCTGGTTCGGCTATGAC GTGAAGAGGGCCGTGGAGGAGCCCCGGCTGCACAACAAGCTTCTGCCCAA CGTCACGACAGTGGAGAGAAACATTGACCAGGCAGTGACTGCAGCCCTGG AGACCCGGCACCATCACACCCAGATCGCGTCCACCTTCATCGCTGTGGTG CAAGCCATCGTCCGCACGGCTGGTGGCTGGGCAGCTGCCTCGGACTCCAG GAAAGGCGGGGAACCTGCTGGCTAC	chr22	18511344	18523161
a0005c0004	0/0	675	1	1	0	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	ATGAC others(670): Show ATGACCTCTGAGTTCTTCGCTGCCCAGCTCCGGTCCCAGATCTCTGACCA CACCACTCACCCGATCTCCTACTACAAGCCCGAGTTCTACACGCCGGATG ACGGGGGCACTGCTCACCTGTCTGTCGTCGCAGAGGACCGCAGTGCTGTG TCCGCCACCAGCACCATCAACCTCTACTTTGGCTCCAAGGTCTGCTCCCC GGTCAGTGGGATCCTGTTCAATAATGAATGGACGACTTCAGCTCTCCCAG CATTCACCAATGAGTTTGGGGCACCCCCCTCACCTGCCAATTTCATCCAG CCAGGGAAGCAGCCGCTCTTGTCCATGTGCCTGACGATCATGGTGGGCCA GGACGGCCAGGTCCGGATGGTGGTGGGAGCTGCTGGGGGCACGCAGATCA CCACAGACACTGCACTGGCCATCATCTACAACCTCTGGTTCGGCTATGAC GTGAAGAGGGCCGTGGAGGAGCCCCGGCTGCACAACAAGCTTCTGCCCAA CGTCACGACAGTGGAGAGAAACATTGACCAGGCAGTGACTGCAGCCCTGG AGACCCGGCACCATCACACCCAGATCGCGTCCACCTTCATCGCTGTGGTG CAAGCCATCGTCCGCACGGCTGGTGGCTGGGCAGCTGCCTCGGACTCCAG GAAAGGCGGGGAACCTGCTGGCTAC	chr22	18511344	18523161
a0006c0005	0/0	675	1	1	0	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	ATGAC others(670): Show ATGACCTCTGAGTTCTTCGCTGCCCAGCTCCGGTCCCAGATCTCTGACCA CACCACTCACCCGATCTCCTACTACAAGCCCGAGTTCTACACGCCGGATG ACGGGGGCACTGCTCACCTGTCTGTCGTCGCAGAGGACGGCAGTGCTGTG TCCGCCACCAGCACCATCAACCTCTACTTTGGCTCCAAGGTCTGCTCCCC GGTCAGTGGGATCCTGTTCAATAATGAATGGACGACTTCAGCTCTCCCAG CATTCACCAATGAGTTTGGGGCACCCCCCTCACCTGCCAATTTCATCCAG CCAGGGAAGCAGCCGCTCTTGTCCATGTGCCTGACGATCATGGTGGGCCA GGACGGCCAGGTCCGGATGGTGGTGGGAGCTGCTGGGGGCACGCAGATCA CCACAGACACTGCACTGGCCATCATCTACAACCTCTGGTTCGGCTATGAC GTGAAGAGGGCCGTGGAGGAGCCCCGGCTGCACAACAAGCTTCTGCCCAA CGTCACGACAGTGGAGAGAAACATTGACCAGGCAGTGACTGCAGCCCTGG AGACCCGGCACCATCACACCCAGATCGCGTCCACCTTCATCGCTGTGGTG CAAGCCATCGTCCGCACGGCTGGTGGCTGGGCAGCTGCCTCGGACTCCAG GAAAGGCGGGGAACCTGCTGGCTAC	chr22	18511344	18523161

acthapid	grch38 chm13v2	tlen	total	AFR	AMR	EAS	SAS	regionname	genename	tseq	chr	start	end
a0001c0001t0001	0/0	968	25	4	7	13	1	GGTLC3_chr22_18511344_18523161	GGTLC3	ATTGA others(963): Show ATTGAATGCGGCAAGGGTCTGGAGGCTGAGGACCAGGCAGACAGACATTC AGAGTTGCTGGAACGCGACAGAGACAGGGAGTCAGACTGGTCATGCAAGG CCAGCTCTGGGGTCTCAGCAGGTGGTCCGCAACATGACCTCTGAGTTCTT CGCTGCCCAGCTCCGGTCCCAGATCTCTGACCACACCACTCACCCGATCT CCTACTACAAGCCCGAGTTCTACACGCCGGATGACGGGGGCACTGCTCAC CTGTCTGTCGTCGCAGAGGACGGCAGTGCTGTGTCCGCCACCAGCACCAT CAACCTCTACTTTGGCTCCAAGGTCTGCTCCCCGGTCAGTGGGATCCTGT TCAATAATGAATGGACGACTTCAGCTCTCCCAGCATTCACCAATGAGTTT GGGGCACCCCCCTCACCTGCCAATTTCATCCAGCCAGGGAAGCAGCCGCT CTTGTCCATGTGCCCGACGATCATGGTGGGCCAGGACGGCCAGGTCCGGA TGGTGGTGGGAGCTGCTGGGGGCACGCAGATCACCACAGACACTGCACTG GCCATCATCTACAACCTCTGGTTCGGCTATGACGTGAAGAGGGCCGTGGA GGAGCCCCGGCTGCACAACAAGCTTCTGCCCAACGTCACGACAGTGGAGA GAAACATTGACCAGGCAGTGACTGCAGCCCTGGAGACCCGGCACCATCAC ACCCAGATCGCATCCACCTTCATCGCTGTGGTGCAAGCCATCGTCCGCAC GGCTGGTGGCTGGGCAGCTGCCTCGGACTCCAGGAAAGGCGGGGAACCTG CTGGCTACTGATTGCTCCAGGCAGACAAGGCTGACAAGCAATCCAGGGAC AAGATACTCACCAGGATGAGGAAGAGGACTTTGGGGGACGGGCTTCCCCT GTGAGCAGCAGAGCAGCATAATAAATGAGGCCACTGTGCCAGGCTCCAGG TGGCCTCCCTGGCCTGTC	chr22	18511344	18523161
a0001c0001t0004	0/0	968	1	1	0	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	ATTGA others(963): Show ATTGAATGCGGCAAGGGTCTGGAGGCTGAGGACCAGGCAGACAGACATTC AGAGTTGCTGGAACGCGACAGAGACAGGGAGTCAGACTGGTCTTGCAAGG CCAGCTCTGGGGTCTCAGCAGGTGGTCCGCAACATGACCTCTGAGTTCTT CGCTGCCCAGCTCCGGTCCCAGATCTCTGACCACACCACTCACCCGATCT CCTACTACAAGCCCGAGTTCTACACGCCGGATGACGGGGGCACTGCTCAC CTGTCTGTCGTCGCAGAGGACGGCAGTGCTGTGTCCGCCACCAGCACCAT CAACCTCTACTTTGGCTCCAAGGTCTGCTCCCCGGTCAGTGGGATCCTGT TCAATAATGAATGGACGACTTCAGCTCTCCCAGCATTCACCAATGAGTTT GGGGCACCCCCCTCACCTGCCAATTTCATCCAGCCAGGGAAGCAGCCGCT CTTGTCCATGTGCCCGACGATCATGGTGGGCCAGGACGGCCAGGTCCGGA TGGTGGTGGGAGCTGCTGGGGGCACGCAGATCACCACAGACACTGCACTG GCCATCATCTACAACCTCTGGTTCGGCTATGACGTGAAGAGGGCCGTGGA GGAGCCCCGGCTGCACAACAAGCTTCTGCCCAACGTCACGACAGTGGAGA GAAACATTGACCAGGCAGTGACTGCAGCCCTGGAGACCCGGCACCATCAC ACCCAGATCGCATCCACCTTCATCGCTGTGGTGCAAGCCATCGTCCGCAC GGCTGGTGGCTGGGCAGCTGCCTCGGACTCCAGGAAAGGCGGGGAACCTG CTGGCTACTGATTGCTCCAGGCAGACAAGGCTGACAAGCAATCCAGGGAC AAGATACTCACCAGGATGAGGAAGAGGACTTTGGGGGACGGGCTTCCCCT GTGAGCAGCAGAGCAGCATAATAAATGAGGCCACTGTGCCAGGCTCCAGG TGGCCTCCCTGGCCTGTC	chr22	18511344	18523161
a0002c0002t0001	0/0	968	2	0	0	2	0	GGTLC3_chr22_18511344_18523161	GGTLC3	ATTGA others(963): Show ATTGAATGCGGCAAGGGTCTGGAGGCTGAGGACCAGGCAGACAGACATTC AGAGTTGCTGGAACGCGACAGAGACAGGGAGTCAGACTGGTCATGCAAGG CCAGCTCTGGGGTCTCAGCAGGTGGTCCGCAACATGACCTCTGAGTTCTT CGCTGCCCAGCTCCGGTCCCAGATCTCTGACCACACCACTCACCCGATCT CCTACGACAAGCCCGAGTTCTACACGCCGGATGACGGGGGCACTGCTCAC CTGTCTGTCGTCGCAGAGGACGGCAGTGCTGTGTCCGCCACCAGCACCAT CAACCTCTACTTTGGCTCCAAGGTCTGCTCCCCGGTCAGTGGGATCCTGT TCAATAATGAATGGACGACTTCAGCTCTCCCAGCATTCACCAATGAGTTT GGGGCACCCCCCTCACCTGCCAATTTCATCCAGCCAGGGAAGCAGCCGCT CTTGTCCATGTGCCCGACGATCATGGTGGGCCAGGACGGCCAGGTCCGGA TGGTGGTGGGAGCTGCTGGGGGCACGCAGATCACCACAGACACTGCACTG GCCATCATCTACAACCTCTGGTTCGGCTATGACGTGAAGAGGGCCGTGGA GGAGCCCCGGCTGCACAACAAGCTTCTGCCCAACGTCACGACAGTGGAGA GAAACATTGACCAGGCAGTGACTGCAGCCCTGGAGACCCGGCACCATCAC ACCCAGATCGCATCCACCTTCATCGCTGTGGTGCAAGCCATCGTCCGCAC GGCTGGTGGCTGGGCAGCTGCCTCGGACTCCAGGAAAGGCGGGGAACCTG CTGGCTACTGATTGCTCCAGGCAGACAAGGCTGACAAGCAATCCAGGGAC AAGATACTCACCAGGATGAGGAAGAGGACTTTGGGGGACGGGCTTCCCCT GTGAGCAGCAGAGCAGCATAATAAATGAGGCCACTGTGCCAGGCTCCAGG TGGCCTCCCTGGCCTGTC	chr22	18511344	18523161
a0002c0002t0005	0/0	968	1	0	0	1	0	GGTLC3_chr22_18511344_18523161	GGTLC3	ATTGA others(963): Show ATTGAATGCGGCAAGGGTCTGGAGGCTGAGGACCAGGCAGACAGACATTC AGAGTTGCTGGAATGCGACAGAGACAGGGAGTCAGACTGGTCATGCAAGG CCAGCTCTGGGGTCTCAGCAGGTGGTCCGCAACATGACCTCTGAGTTCTT CGCTGCCCAGCTCCGGTCCCAGATCTCTGACCACACCACTCACCCGATCT CCTACGACAAGCCCGAGTTCTACACGCCGGATGACGGGGGCACTGCTCAC CTGTCTGTCGTCGCAGAGGACGGCAGTGCTGTGTCCGCCACCAGCACCAT CAACCTCTACTTTGGCTCCAAGGTCTGCTCCCCGGTCAGTGGGATCCTGT TCAATAATGAATGGACGACTTCAGCTCTCCCAGCATTCACCAATGAGTTT GGGGCACCCCCCTCACCTGCCAATTTCATCCAGCCAGGGAAGCAGCCGCT CTTGTCCATGTGCCCGACGATCATGGTGGGCCAGGACGGCCAGGTCCGGA TGGTGGTGGGAGCTGCTGGGGGCACGCAGATCACCACAGACACTGCACTG GCCATCATCTACAACCTCTGGTTCGGCTATGACGTGAAGAGGGCCGTGGA GGAGCCCCGGCTGCACAACAAGCTTCTGCCCAACGTCACGACAGTGGAGA GAAACATTGACCAGGCAGTGACTGCAGCCCTGGAGACCCGGCACCATCAC ACCCAGATCGCATCCACCTTCATCGCTGTGGTGCAAGCCATCGTCCGCAC GGCTGGTGGCTGGGCAGCTGCCTCGGACTCCAGGAAAGGCGGGGAACCTG CTGGCTACTGATTGCTCCAGGCAGACAAGGCTGACAAGCAATCCAGGGAC AAGATACTCACCAGGATGAGGAAGAGGACTTTGGGGGACGGGCTTCCCCT GTGAGCAGCAGAGCAGCATAATAAATGAGGCCACTGTGCCAGGCTCCAGG TGGCCTCCCTGGCCTGTC	chr22	18511344	18523161
a0003c0003t0002	0/0	968	2	1	1	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	ATTGA others(963): Show ATTGAATGCGGCAAGGGTCTAGAGGCTGAGGACCAGGCAGACAGACATTC AGAGTTGCTGGAACGCGACAGAGACAGGGAGTCAGACTGGTCATGCAAGG CCAGCTCTGGGGTCTCAGCAGGTGGTCCGCAACATGACCTCTGAGTTCTT CGCTGCCCAGCTCCGGTCCCAGATCTCTGACCACACCACTCACCCGATCT CCTACTACAAGCCCGAGTTCTACACGCCGGATGACGGGGGCACTGCTCAC CTGTCTGTCGTCGCAGAGGACGGCAGTGCTGTGTCCGCCACCAGCACCAT CAACCTCTACTTTGGCTCCAAGGTCTGCTCCCCGGTCAGTGGGATCCTGT TCAATAATGAATGGACGACTTCAGCTCTCCCAGCATTCACCAATGAGTTT GGGGCACCCCCCTCACCTGCCAATTTCATCCAGCCAGGGAAGCAGCCGCT CTTGTCCATGTGCCCGACGATCATGGTGGGCCAGGACGGCCAGGTCCGGA TGGTGGTGGGAGCTGCTGCGGGCACGCAGATCACCACAGACACTGCACTG GCCATCATCTACAACCTCTGGTTCGGCTATGACGTGAAGAGGGCCGTGGA GGAGCCCCGGCTGCACAACAAGCTTCTGCCCAACGTCACGACAGTGGAGA GAAACATTGACCAGGCAGTGACTGCAGCCCTGGAGACCCAGCACCATCAC ACCCAGATCGCGTCCACCTTCATCGCTGTGGTGCAAGCCATCGTCCGCAC GGCTGGTGGCTGGGCAGCTGCCTCGGACTCCAGGAAAGGCGGGGAACCTG CTGGCTACTGATTGCTCCAGGCAGACAAGGCTGACAAGCAATCCAGGGAC AAGATACTCACCAGGATGAGGAAGAGGACTTTGGGGGACGGGCTTCCCCT GTGAGCAGCAGAGCAGCATAATAAATGAGGCCACTGTGCCAGGCTCCAGG TGGCCTCCCTGGCCTGTC	chr22	18511344	18523161
a0004c0006t0003	0/0	968	1	0	0	0	1	GGTLC3_chr22_18511344_18523161	GGTLC3	ATTGA others(963): Show ATTGAATGCGGCAAGGGTCTGGAGGCTGAGGACCAGGCAGACAGACATTC AGAGTTGCTGGAACGCGACAGAGACAGGGAGTCAGACTGGTCATGCAAGG CCAGCTCTGGGGTCTCAGCAGGTGGTCCGCAACATGACCTCTGAGTTCTT CGCTGCCCAGCTCCGGTCCCAGATCTCTGACCACACCACTCACCCGATCT CCTACTACAAGCCCGAGTTCTACACGCTGGATGACGGGGGCACTGCTCAC CTGTCTGTCGTCGCAGAGGACGGCAGTGCTGTGTCCGCCACCAGCACCAT CAACCTCTAATTTGGCTCCAAGGTCTGCTCCCCGGTCAGTGGGATCCTGT TCAATAATGAATGGACGACTTCAGCTCTCCCAGCATTCACCAATGAGTTT GGGGCACCCCCCTCACCTGCCAATTTCATCCAGCCAGGGAAGCAGCCGCT CTTGTCTATGTGCCCGACGATCATGGTGGGCCAGGACGGCCAGGTCCGGA TGGTGGTGGGAGCTGCTGGGGGCACGCAGATCACCACAGACACTGCACTG GCCATCATCTACAACCTCTGGTTCGGCTATGACGTGAAGAGGGCCGTGGA GGAGCCCCGGCTGCACAACAAGCTTCTGCCCAACGTCACGACAGTGGAGA GAAACATTGACCAGGCAGTGACTGCAGCCCTGGAGACCCGGCACCATCAC ACCCAGATCGCGTCCACCTTCATCGCTGTGGTGCAAGCCATCGTCCGCAC GGCTGGTGGCTGGGCAGCTGCCTCGGACTCCAGGAAAGGCGGGGAACCTG CTGGCTACTGAGTGCTCCAGGCAGACAAGGCTGACAAGCAATCCAGGGAC AAGATACTCACCAGGATGAGGAAGAGGACTTTGGGGGACGGGCTTCCCCT GTGAGCAGCAGAGCAGCATAATAAATGAGGCCACTGTGCCAGGCTCCAGG TGGCCTCCCTGGCCTGTC	chr22	18511344	18523161
a0005c0004t0001	0/0	968	1	1	0	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	ATTGA others(963): Show ATTGAATGCGGCAAGGGTCTGGAGGCTGAGGACCAGGCAGACAGACATTC AGAGTTGCTGGAACGCGACAGAGACAGGGAGTCAGACTGGTCATGCAAGG CCAGCTCTGGGGTCTCAGCAGGTGGTCCGCAACATGACCTCTGAGTTCTT CGCTGCCCAGCTCCGGTCCCAGATCTCTGACCACACCACTCACCCGATCT CCTACTACAAGCCCGAGTTCTACACGCCGGATGACGGGGGCACTGCTCAC CTGTCTGTCGTCGCAGAGGACCGCAGTGCTGTGTCCGCCACCAGCACCAT CAACCTCTACTTTGGCTCCAAGGTCTGCTCCCCGGTCAGTGGGATCCTGT TCAATAATGAATGGACGACTTCAGCTCTCCCAGCATTCACCAATGAGTTT GGGGCACCCCCCTCACCTGCCAATTTCATCCAGCCAGGGAAGCAGCCGCT CTTGTCCATGTGCCTGACGATCATGGTGGGCCAGGACGGCCAGGTCCGGA TGGTGGTGGGAGCTGCTGGGGGCACGCAGATCACCACAGACACTGCACTG GCCATCATCTACAACCTCTGGTTCGGCTATGACGTGAAGAGGGCCGTGGA GGAGCCCCGGCTGCACAACAAGCTTCTGCCCAACGTCACGACAGTGGAGA GAAACATTGACCAGGCAGTGACTGCAGCCCTGGAGACCCGGCACCATCAC ACCCAGATCGCGTCCACCTTCATCGCTGTGGTGCAAGCCATCGTCCGCAC GGCTGGTGGCTGGGCAGCTGCCTCGGACTCCAGGAAAGGCGGGGAACCTG CTGGCTACTGATTGCTCCAGGCAGACAAGGCTGACAAGCAATCCAGGGAC AAGATACTCACCAGGATGAGGAAGAGGACTTTGGGGGACGGGCTTCCCCT GTGAGCAGCAGAGCAGCATAATAAATGAGGCCACTGTGCCAGGCTCCAGG TGGCCTCCCTGGCCTGTC	chr22	18511344	18523161
a0006c0005t0001	0/0	968	1	1	0	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	ATTGA others(963): Show ATTGAATGCGGCAAGGGTCTGGAGGCTGAGGACCAGGCAGACAGACATTC AGAGTTGCTGGAACGCGACAGAGACAGGGAGTCAGACTGGTCATGCAAGG CCAGCTCTGGGGTCTCAGCAGGTGGTCCGCAACATGACCTCTGAGTTCTT CGCTGCCCAGCTCCGGTCCCAGATCTCTGACCACACCACTCACCCGATCT CCTACTACAAGCCCGAGTTCTACACGCCGGATGACGGGGGCACTGCTCAC CTGTCTGTCGTCGCAGAGGACGGCAGTGCTGTGTCCGCCACCAGCACCAT CAACCTCTACTTTGGCTCCAAGGTCTGCTCCCCGGTCAGTGGGATCCTGT TCAATAATGAATGGACGACTTCAGCTCTCCCAGCATTCACCAATGAGTTT GGGGCACCCCCCTCACCTGCCAATTTCATCCAGCCAGGGAAGCAGCCGCT CTTGTCCATGTGCCTGACGATCATGGTGGGCCAGGACGGCCAGGTCCGGA TGGTGGTGGGAGCTGCTGGGGGCACGCAGATCACCACAGACACTGCACTG GCCATCATCTACAACCTCTGGTTCGGCTATGACGTGAAGAGGGCCGTGGA GGAGCCCCGGCTGCACAACAAGCTTCTGCCCAACGTCACGACAGTGGAGA GAAACATTGACCAGGCAGTGACTGCAGCCCTGGAGACCCGGCACCATCAC ACCCAGATCGCGTCCACCTTCATCGCTGTGGTGCAAGCCATCGTCCGCAC GGCTGGTGGCTGGGCAGCTGCCTCGGACTCCAGGAAAGGCGGGGAACCTG CTGGCTACTGATTGCTCCAGGCAGACAAGGCTGACAAGCAATCCAGGGAC AAGATACTCACCAGGATGAGGAAGAGGACTTTGGGGGACGGGCTTCCCCT GTGAGCAGCAGAGCAGCATAATAAATGAGGCCACTGTGCCAGGCTCCAGG TGGCCTCCCTGGCCTGTC	chr22	18511344	18523161

actghapid	grch38/ chm13v2	total	AFR	AMR	EAS	SAS	regionname	genename	chr	start	end
a0001c0001t0001g0001	0/0	23	4	6	12	1	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
a0001c0001t0001g0004	0/0	1	0	1	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
a0001c0001t0001g0008	0/0	1	0	0	1	0	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
a0001c0001t0004g0009	0/0	1	1	0	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
a0002c0002t0001g0003	0/0	2	0	0	2	0	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
a0002c0002t0005g0010	0/0	1	0	0	1	0	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
a0003c0003t0002g0002	0/0	2	1	1	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
a0004c0006t0003g0005	0/0	1	0	0	0	1	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
a0005c0004t0001g0006	0/0	1	1	0	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
a0006c0005t0001g0007	0/0	1	1	0	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161

sampleid	ID haplotypeid	ahapid	chapid	thapid	ghapid	gpopname	popname	regionname	genename	chr	start	end
HG00597	hp1	a0001	c0001	t0001	g0001	EAS	CHS	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
HG00597	hp2	a0001	c0001	t0001	g0001	EAS	CHS	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
HG00642	hp1	a0001	c0001	t0001	g0004	AMR	PUR	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
HG00642	hp2	a0001	c0001	t0001	g0001	AMR	PUR	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
HG01243	hp1	a0001	c0001	t0001	g0001	AMR	PUR	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
HG01243	hp2	a0003	c0003	t0002	g0002	AMR	PUR	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
HG01975	hp1	a0001	c0001	t0001	g0001	AMR	PEL	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
HG01975	hp2	a0001	c0001	t0001	g0001	AMR	PEL	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
HG01993	hp1	a0001	c0001	t0001	g0001	AMR	PEL	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
HG01993	hp2	a0001	c0001	t0001	g0001	AMR	PEL	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
HG02738	hp1	a0001	c0001	t0001	g0001	SAS	PJL	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
HG02738	hp2	a0004	c0006	t0003	g0005	SAS	PJL	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
HG02970	hp1	a0001	c0001	t0001	g0001	AFR	ESN	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
HG02970	hp2	a0005	c0004	t0001	g0006	AFR	ESN	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
HG02976	hp1	a0001	c0001	t0001	g0001	AFR	ESN	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
HG02976	hp2	a0006	c0005	t0001	g0007	AFR	ESN	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
HG03041	hp1	a0003	c0003	t0002	g0002	AFR	GWD	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
HG03041	hp2	a0001	c0001	t0001	g0001	AFR	GWD	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
NA18947	hp1	a0001	c0001	t0001	g0001	EAS	JPT	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
NA18947	hp2	a0001	c0001	t0001	g0001	EAS	JPT	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
NA19009	hp1	a0001	c0001	t0001	g0001	EAS	JPT	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
NA19009	hp2	a0002	c0002	t0001	g0003	EAS	JPT	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
NA19011	hp1	a0001	c0001	t0001	g0001	EAS	JPT	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
NA19011	hp2	a0001	c0001	t0001	g0001	EAS	JPT	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
NA19056	hp1	a0001	c0001	t0001	g0001	EAS	JPT	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
NA19056	hp2	a0001	c0001	t0001	g0008	EAS	JPT	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
NA19065	hp1	a0001	c0001	t0001	g0001	EAS	JPT	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
NA19065	hp2	a0002	c0002	t0001	g0003	EAS	JPT	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
NA19079	hp1	a0001	c0001	t0001	g0001	EAS	JPT	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
NA19079	hp2	a0001	c0001	t0001	g0001	EAS	JPT	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
NA19089	hp1	a0001	c0001	t0001	g0001	EAS	JPT	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
NA19089	hp2	a0002	c0002	t0005	g0010	EAS	JPT	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
NA21309	hp1	a0001	c0001	t0004	g0009	AFR	LWK	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
NA21309	hp2	a0001	c0001	t0001	g0001	AFR	LWK	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161

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
chr22:18516622	C C	T T	1	a0003 a0003	2	HG01243.hp2 HG03041.hp1 HG01243.hp2 HG03041.hp1	missense_variant	MODERATE	c.557G>A c.557G>A	p.Arg186Gln p.Arg186Gln	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	6/6	690/968	557/678	186/225	chr22	18516622
chr22:18517178	C C	G G	1	a0003 a0003	2	HG01243.hp2 HG03041.hp1 HG01243.hp2 HG03041.hp1	missense_variant	MODERATE	c.386G>C c.386G>C	p.Gly129Ala p.Gly129Ala	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	4/6	519/968	386/678	129/225	chr22	18517178
chr22:18517232	G G	A A	2	a0005 a0006 a0005 a0006	2	HG02970.hp2 HG02976.hp2 HG02970.hp2 HG02976.hp2	missense_variant	MODERATE	c.332C>T c.332C>T	p.Pro111Leu p.Pro111Leu	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	4/6	465/968	332/678	111/225	chr22	18517232
chr22:18517489	G G	T T	1	a0004 a0004	1	HG02738.hp2 HG02738.hp2	stop_gained&splice_region_variant	HIGH	c.177C>A c.177C>A	p.Tyr59* p.Tyr59*	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	3/6	310/968	177/678	59/225	chr22	18517489
chr22:18517759	C C	G G	1	a0005 a0005	1	HG02970.hp2 HG02970.hp2	missense_variant	MODERATE	c.139G>C c.139G>C	p.Gly47Arg p.Gly47Arg	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	2/6	272/968	139/678	47/225	chr22	18517759
chr22:18517803	G G	A A	1	a0004 a0004	1	HG02738.hp2 HG02738.hp2	missense_variant	MODERATE	c.95C>T c.95C>T	p.Pro32Leu p.Pro32Leu	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	2/6	228/968	95/678	32/225	chr22	18517803
chr22:18517825	A A	C C	1	a0002 a0002	3	NA19009.hp2 NA19065.hp2 NA19089.hp2 NA19009.hp2 NA19065.hp2 NA19089.hp2	missense_variant	MODERATE	c.73T>G c.73T>G	p.Tyr25Asp p.Tyr25Asp	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	2/6	206/968	73/678	25/225	chr22	18517825

view	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	distance	status	chr	pos
	chr22:18516600	T T	C C	4	a0003c0003 a0004c0006 a0005c0004 others(1): Show a0003c0003 a0004c0006 a0005c0004 a0006c0005	5	HG01243.hp2 HG02738.hp2 HG02970.hp2 others(2): Show HG01243.hp2 HG02738.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1	synonymous_variant	LOW	c.579A>G c.579A>G	p.Ala193Ala p.Ala193Ala	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	6/6	712/968	579/678	193/225			chr22	18516600
	chr22:18517240	G G	A A	1	a0004c0006 a0004c0006	1	HG02738.hp2 HG02738.hp2	synonymous_variant	LOW	c.324C>T c.324C>T	p.Ser108Ser p.Ser108Ser	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	4/6	457/968	324/678	108/225			chr22	18517240

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
chr22:18516500	A A	C C	1	a0004c0006t0003 a0004c0006t0003	1	HG02738.hp2 HG02738.hp2	3_prime_UTR_variant	MODIFIER	c.1T>G c.1T>G	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	6/6	1	chr22	18516500
chr22:18518069	T T	A A	1	a0001c0001t0004 a0001c0001t0004	1	NA21309.hp1 NA21309.hp1	5_prime_UTR_premature_start_codon_gain_variant	LOW	c.-41A>T c.-41A>T	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	1/6		chr22	18518069
chr22:18518098	G G	A A	1	a0002c0002t0005 a0002c0002t0005	1	NA19089.hp2 NA19089.hp2	5_prime_UTR_premature_start_codon_gain_variant	LOW	c.-70C>T c.-70C>T	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	1/6		chr22	18518098
chr22:18518141	C C	T T	1	a0003c0003t0002 a0003c0003t0002	2	HG01243.hp2 HG03041.hp1 HG01243.hp2 HG03041.hp1	5_prime_UTR_variant	MODIFIER	c.-113G>A c.-113G>A	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	1/6	244	chr22	18518141

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
chr22:18516810	T T	C C	1	a0004c0006t0003g0005 a0004c0006t0003g0005	1	HG02738.hp2 HG02738.hp2	intron_variant	MODIFIER	c.531+142A>G c.531+142A>G	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	5/5	chr22	18516810
chr22:18516944	T T	C C	4	a0003c0003t0002g0002 a0004c0006t0003g0005 a0005c0004t0001g0006 others(1): Show a0003c0003t0002g0002 a0004c0006t0003g0005 a0005c0004t0001g0006 a0006c0005t0001g0007	5	HG01243.hp2 HG02738.hp2 HG02970.hp2 others(2): Show HG01243.hp2 HG02738.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1	splice_region_variant&intron_variant	LOW	c.531+8A>G c.531+8A>G	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	5/5	chr22	18516944
chr22:18517090	G G	A A	1	a0003c0003t0002g0002 a0003c0003t0002g0002	2	HG01243.hp2 HG03041.hp1 HG01243.hp2 HG03041.hp1	intron_variant	MODIFIER	c.418-25C>T c.418-25C>T	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	4/5	chr22	18517090
chr22:18517345	A A	G G	5	a0002c0002t0005g0010 a0003c0003t0002g0002 a0004c0006t0003g0005 others(2): Show a0002c0002t0005g0010 a0003c0003t0002g0002 a0004c0006t0003g0005 a0005c0004t0001g0006 a0006c0005t0001g0007	6	HG01243.hp2 HG02738.hp2 HG02970.hp2 others(3): Show HG01243.hp2 HG02738.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 NA19089.hp2	intron_variant	MODIFIER	c.304+17T>C c.304+17T>C	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	3/5	chr22	18517345
chr22:18517938	AGGTGGGG others(6): Show AGGTGGGGAGGGAG	A A	3	a0001c0001t0001g0008 a0001c0001t0004g0009 a0004c0006t0003g0005 a0001c0001t0001g0008 a0001c0001t0004g0009 a0004c0006t0003g0005	3	HG02738.hp2 NA19056.hp2 NA21309.hp1 HG02738.hp2 NA19056.hp2 NA21309.hp1	splice_region_variant&intron_variant	LOW	c.-34-20_-34-8delCTC others(10): Show c.-34-20_-34-8delCTCCCTCCCCACC	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	1/5	chr22	18517938
chr22:18517950	AG AG	A A	1	a0001c0001t0001g0001 a0001c0001t0001g0001	2	HG02970.hp1 HG03041.hp2 HG02970.hp1 HG03041.hp2	intron_variant	MODIFIER	c.-34-20delC c.-34-20delC	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	1/5	chr22	18517950
chr22:18518051	C C	A A	4	a0001c0001t0001g0004 a0002c0002t0001g0003 a0002c0002t0005g0010 others(1): Show a0001c0001t0001g0004 a0002c0002t0001g0003 a0002c0002t0005g0010 a0004c0006t0003g0005	5	HG00642.hp1 HG02738.hp2 NA19009.hp2 others(2): Show HG00642.hp1 HG02738.hp2 NA19009.hp2 NA19065.hp2 NA19089.hp2	intron_variant	MODIFIER	c.-35+12G>T c.-35+12G>T	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	1/5	chr22	18518051
chr22:18518059	A A	G G	6	a0001c0001t0001g0004 a0001c0001t0004g0009 a0002c0002t0001g0003 others(3): Show a0001c0001t0001g0004 a0001c0001t0004g0009 a0002c0002t0001g0003 a0002c0002t0005g0010 a0003c0003t0002g0002 a0004c0006t0003g0005	8	HG00642.hp1 HG01243.hp2 HG02738.hp2 others(5): Show HG00642.hp1 HG01243.hp2 HG02738.hp2 HG03041.hp1 NA19009.hp2 NA19065.hp2 NA19089.hp2 NA21309.hp1	splice_region_variant&intron_variant	LOW	c.-35+4T>C c.-35+4T>C	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	1/5	chr22	18518059
chr22:18518062	C C	T T	1	a0001c0001t0004g0009 a0001c0001t0004g0009	1	NA21309.hp1 NA21309.hp1	splice_donor_variant&intron_variant	HIGH	c.-35+1G>A c.-35+1G>A	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	1/5	chr22	18518062

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GGTLC3_chr22_18511344_18523161 Genic Haplotype Structure on iGV

Translation Multiple Alignment View

Gene Summary (with MANE)

Amino acid(protein) Level Haplotype Info (Total: 6)

Coding Level Haplotype Info (Total: 6)

Transcript Level Haplotype Info (Total: 8)

Genebody Level Haplotype Info (Total: 10)

Haplotype Details by Sample (Haploid Level) (Total: 34)

Amino acid(protein) Level Haplotype Related Variants (Effect to Protein Coding Variants) (Total: 7)

Coding Level Variants (On coding region but no effect to protein coding variants: Synonymous Mutations) (Total: 2)

Transcript Level Haplotype Variants (Exon) (Total: 4)

Genebody Level Haplotype Variants (Intron) (Total: 9)

Annotation (Repeats)

Annotation (SNP Array)