Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
LORICRIN_chr1_153254687_153267124	153256755	A A	ATAAAACT others(707): Show ATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACAT ATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAG TCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTAT ATATAGTCACATATGTATATAAAACTATATATAGTTATATGTATATAAAA CTATAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAA AACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGT ATATAAAATTATATACAGTCATATATGTATATAAAACTATATACAGTCAT GTATGTATATAAAACTATACAGTCATATATGTATATAAAACTATACAGTC ATATATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATAT ATAGTCATATATGTATATAAAACTATATAGTTATATATGTATATAAAACT ATATAGTTATATATGTATATAAAACTATAGTTATATATGTATGTAAAACT ATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTAT AGTTATATATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTAT ATATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACTATATAC AGTTATGTATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp1 NA19055.hp1 NA18993.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	171	0.0117	714	c.-30 others(725): Show c.-3002_-3001insTAAAACTATATATAGTCACATATGTATATAAAAC TATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATA TAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATA TGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGT TATATGTATATAAAACTATAGTCATATATGTATATAAAACTATATACAGT CATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATA TACAGTCATATATGTATATAAAATTATATACAGTCATATATGTATATAAA ACTATATACAGTCATGTATGTATATAAAACTATACAGTCATATATGTATA TAAAACTATACAGTCATATATGTATATAAAACTATATATAGTCATATATG TATATAAAACTATATATAGTCATATATGTATATAAAACTATATAGTTATA TATGTATATAAAACTATATAGTTATATATGTATATAAAACTATAGTTATA TATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATA TGTATGTAAAACTATAGTTATATATGTAAAACTATAGTTATATATGTATG TAAAACTATAGTTATATATGTATGTAAAACTATATACAGTTATGTATGTA TGTAAAACTATATACAGTTATGTATGTATG	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2931		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256755	A A	ATAAAACT others(707): Show ATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACAT ATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAG TCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTAT ATATAGTCACATATGTATATAAAACTATATATAGTTATATGTATATAAAA CTATAGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAA AACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGT ATATAAAATTATATACAGTCATATATGTATATAAAACTATATACAGTCAT GTATGTATATAAAACTATACAGTCATATATGTATATAAAACTATACAGTC ATATATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATAT ATAGTCATATATGTATATAAAACTATATAGTTATATATGTATATAAAACT ATATAGTTATATATGTATATAAAACTATAGTTATATATGTATGTAAAACT ATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTAT AGTTATATATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTAT ATATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACTATATAC AGTTATGTATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp1 others(114): Show HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00733.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01257.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01981.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02280.hp2 HG02523.hp1 HG02683.hp1 HG02683.hp2 HG02895.hp1 HG02896.hp2 HG03017.hp2 HG03491.hp2 HG03516.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18943.hp1 NA18943.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18976.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18984.hp2 NA18990.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19054.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp2 NA19062.hp1 NA19067.hp1 NA19068.hp2 NA19075.hp2 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0010 a0013 a0001 a0010 a0013	a0001c0001 a0001c0007 a0001c0012 others(2): Show a0001c0001 a0001c0007 a0001c0012 a0010c0011 a0013c0015	a0001c0001t0001 a0001c0001t0003 a0001c0007t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0007t0001 a0001c0012t0001 a0010c0011t0001 a0013c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0003g0001 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0003g0001 a0001c0007t0001g0001 a0001c0012t0001g0001 a0010c0011t0001g0001 a0013c0015t0001g0001	117	286	0.4091	714	c.-30 others(725): Show c.-3002_-3001insTAAAACTATATATAGTCACATATGTATATAAAAC TATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATA TAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATA TGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGT TATATGTATATAAAACTATAGTCATATATGTATATAAAACTATATATAGT CATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATA TACAGTCATATATGTATATAAAATTATATACAGTCATATATGTATATAAA ACTATATACAGTCATGTATGTATATAAAACTATACAGTCATATATGTATA TAAAACTATACAGTCATATATGTATATAAAACTATATATAGTCATATATG TATATAAAACTATATATAGTCATATATGTATATAAAACTATATAGTTATA TATGTATATAAAACTATATAGTTATATATGTATATAAAACTATAGTTATA TATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATA TGTATGTAAAACTATAGTTATATATGTAAAACTATAGTTATATATGTATG TAAAACTATAGTTATATATGTATGTAAAACTATATACAGTTATGTATGTA TGTAAAACTATATACAGTTATGTATGTATG	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2931		chr1	TogoVar
MAN2B2_chr4_6570189_6628362	6579135	C C	CCATCACC others(707): Show CCATCACCACCACCACCCTTCACCACCACCACCACCACCACCACCATCAC CACCACCACCCTTCACCACCATCACCACCACCACCATCACCACCACCATC ACCATCACCACCACCACCATCACCACCATCACCACCACCACCACCACCAC CATCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCA CCACCACCATCACCACCACCACCACCACCACCATCACCACCATCACCACC ACCACCATCACCACCACCATCACCATCACCACCACCACCATCACCACCAT CACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCATCACCACCATCACCACCATCACCACCACCACCACCACCACCAC CATCACCACCATCACCACCATCACCATCACCACCACCACCACCACCACCA CCATCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACC ACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCATCAC CATCACCACCACCACCATCACCACCATCACCACCACCACCACCATCACCA CCACCACCACCATCACCATCACCACCACCATCACCATCACCACCACCACC ACCACCCTTCACCAT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	342	0.0029	714	c.391 others(729): Show c.391+639_391+640insTCACCACCACCACCCTTCACCACCACCACC ACCACCACCACCATCACCACCACCACCCTTCACCACCATCACCACCACCA CCATCACCACCACCATCACCATCACCACCACCACCATCACCACCATCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CATCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCA TCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACC ACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCACCAC CACCATCACCACCACCACCACCACCACCACCACCACCACCATCACCACCA CCACCACCACCACCACCACCACCATCACCACCATCACCACCATCACCACC ACCACCACCACCACCACCATCACCACCATCACCACCATCACCATCACCAC CACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACC ACCACCACCACCATCACCATCACCACCACCACCATCACCACCATCACCAC CACCACCACCATCACCACCACCACCACCATCACCATCACCACCACCATCA CCATCACCACCACCACCACCACCCTTCACCATCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(707): Show ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAG CCACCAGACAACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACCC ACAGCCACCAGACAACGCACAGCCACCAGACAACCCACAGCCACCAGACA ACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCAC AGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCAGACAAC GCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGA CAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAG CCACCAGACAACCCG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0015 a0015	a0015c0013 a0015c0013	a0015c0013t0004 a0015c0013t0004	a0015c0013t0004g0193 a0015c0013t0004g0193	1	83	0.0120	714	c.377 others(731): Show c.377-3834_377-3833insCGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG TGGGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTG GCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MERTK_chr2_111893607_112034561	111944498	A A	AATTCCTT others(707): Show AATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAAT TCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAAGTATTCCTTAAAATAATTCCTCTGTTTTAAGGAAGTATT CCTTAAAATAATTCCTCTGTTTTAAGGAAGTATTCCTTAAAATAATTCCT CTGTTTTAAGGAATT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG03490.hp2 HG03492.hp2 HG01993.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0138 a0001c0001t0001g0145 a0001c0001t0001g0148	3	49	0.0612	714	c.483 others(729): Show c.483-427_483-426insTTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAAGTATT CCTTAAAATAATTCCTCTGTTTTAAGGAAGTATTCCTTAAAATAATTCCT CTGTTTTAAGGAAGTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTA TTCCTTAAAATAATTCCTCTGTTTTAAGGAATTA	MERTK	ENSG00000153208.19	transcript	ENST00000295408.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
MERTK_chr2_111893607_112034561	111944498	A A	AATTCCTT others(707): Show AATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAAT TCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAAGTATT CCTTAAAATAATTCCTCTGTTTTAAGGAAGTATTCCTTAAAATAATTCCT CTGTTTTAAGGAATT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	47	0.0213	714	c.483 others(729): Show c.483-427_483-426insTTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATT CCTTAAAATAATTCCTCTGTTTTAAGGAAGTATTCCTTAAAATAATTCCT CTGTTTTAAGGAAGTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTA TTCCTTAAAATAATTCCTCTGTTTTAAGGAATTA	MERTK	ENSG00000153208.19	transcript	ENST00000295408.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
MERTK_chr2_111893607_112034561	111944498	A A	AATTCCTT others(707): Show AATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAAT TCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATT CCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCT CTGTTTTAAGGAATT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01074.hp2 HG01081.hp2 others(22): Show HG00140.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01168.hp1 HG01261.hp2 HG01517.hp2 HG02109.hp2 HG02129.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02523.hp1 HG02647.hp1 HG02735.hp1 HG02818.hp1 HG02922.hp2 HG03209.hp1 HG03491.hp2 HG03710.hp2 HG03942.hp1 HG06807.hp1 NA18951.hp1 NA18994.hp1 NA19007.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0002c0012 others(2): Show a0001c0001 a0002c0002 a0002c0012 a0003c0003 a0005c0005	a0001c0001t0001 a0002c0002t0001 a0002c0012t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0012t0001 a0003c0003t0001 a0003c0003t0009 a0005c0005t0003	a0001c0001t0001g0104 a0002c0002t0001g0066 a0002c0002t0001g0152 others(22): Show a0001c0001t0001g0104 a0002c0002t0001g0066 a0002c0002t0001g0152 a0002c0002t0001g0233 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0257 a0002c0012t0001g0060 a0003c0003t0001g0017 a0003c0003t0001g0018 a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0024 a0003c0003t0001g0028 a0003c0003t0001g0030 a0003c0003t0001g0033 a0003c0003t0001g0048 a0003c0003t0001g0050 a0003c0003t0001g0051 a0003c0003t0001g0058 a0003c0003t0001g0232 a0003c0003t0009g0053 a0005c0005t0003g0003 a0005c0005t0003g0011	25	71	0.3521	714	c.483 others(729): Show c.483-427_483-426insTTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATT CCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCT CTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTA TTCCTTAAAATAATTCCTCTGTTTTAAGGAATTA	MERTK	ENSG00000153208.19	transcript	ENST00000295408.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(707): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCG CGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAG ATCACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCC GTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGT AATCCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGC ATAGGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGC AATAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAGGCAGCTG AGCCCTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTA TGAAGAGCTCAGCTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCATTGCAAACTCT GCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGG ATTACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGA GACAGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGT GATCTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0226 a0001c0001t0047g0226	1	82	0.0122	714	c.23 others(725): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCACACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTC CTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTT TTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGT GGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGA GTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACG CCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGC CAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTT TTTTTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCT CATGCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(707): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGC GGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGA TCACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCG TCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTA ATCCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCA TAGGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCA ATAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAG CCCTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATG AAGAGCTCAGCTTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCT GCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGG ATTACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGA GACAGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGT GATCTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG04204.hp1 HG04204.hp2 others(4): Show HG03098.hp1 HG04204.hp1 HG04204.hp2 NA18978.hp1 NA18978.hp2 NA19067.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0037 a0001c0001t0004 a0001c0001t0011 a0001c0001t0037	a0001c0001t0004g0034 a0001c0001t0004g0039 a0001c0001t0004g0051 others(2): Show a0001c0001t0004g0034 a0001c0001t0004g0039 a0001c0001t0004g0051 a0001c0001t0011g0017 a0001c0001t0037g0109	7	88	0.0795	714	c.23 others(725): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCAT TCCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTT TTTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAG TGGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAG AGTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCAC GCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAG CCAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTT TTTTTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCT CATGCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(707): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCG GTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGAT CACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGT CTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAA TCCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCAT AGGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAA TAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAGGCAGCTGAG CCCTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATG AAGAGCTCAGCTTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCT GCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGG ATTACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGA GACAGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGT GATCTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0141 a0001c0001t0021g0141	1	82	0.0122	714	c.23 others(725): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCAT TCCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTT TTTTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCA GTGGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGA GAGTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCA CGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTA GCCAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTC CCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTT TTTTTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCT CATGCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(707): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCG GTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGAT CACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGT CTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAA TCCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCAT AGGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAA TAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGC CCTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGA AGAGCTCAGCTTTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCT GCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGG ATTACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGA GACAGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGT GATCTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02622.hp2 NA19005.hp1 others(1): Show HG02155.hp1 HG02622.hp2 NA19005.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0026 a0001c0001t0004 a0001c0001t0026	a0001c0001t0004g0005 a0001c0001t0004g0036 a0001c0001t0026g0095 a0001c0001t0004g0005 a0001c0001t0004g0036 a0001c0001t0026g0095	4	85	0.0471	714	c.23 others(725): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCA TTCCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTT TTTTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCA GTGGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGA GAGTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCA CGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTA GCCAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTC CCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTT TTTTTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCT CATGCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(707): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGG TGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATC ACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTC TCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAAT CCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATA GGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAAT AGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAAGGCAGCTGAG CCCTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATG AAGAGCTCAGCTTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCT GCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGG ATTACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGA GACAGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGT GATCTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0009	1	82	0.0122	714	c.23 others(725): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCAT TCCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTT TTTTTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGC AGTGGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAG AGAGTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACC ACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATT AGCCAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTT TTTTTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCT CATGCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MLPH_chr2_237482251_237560322	237543266	G G	GGGGACAG others(707): Show GGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGT GGGGACAGTGGTGAGTGGGGGGATGGTGAGTGGGCACGGTGGTGAGTGGG GACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGG GGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGG GACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGG GACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGT GGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTG AGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACGGTGGTG AGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGGACAGT GGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGT GGTGAGTGGGGGGACAGTGGCAAGTGGGGACAGTGGTGAGTGGGGACAGT GGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGT GGTGAGTGGGGACAGTGGTGAGTGGGGACATTGGTGAGTGGAGGGGACAG TGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGG ACAGTGGTGAGTGGA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0044 a0002c0044	a0002c0044t0001 a0002c0044t0001	a0002c0044t0001g0080 a0002c0044t0001g0080	1	281	0.0036	714	c.153 others(731): Show c.1539+610_1539+611insACAGTGGTGAGTGGGGACAGTGGTGAGT GGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGATGGTGAGTG GGCACGGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGG GGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTG GGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTG GGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTG GAGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTGGTGA GTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGG CAAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTG GTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACA GTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGGACA GTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACA GTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACATT GGTGAGTGGAGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGA CAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGAGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(707): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGG GGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGG GGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGG GGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGGGAGG GGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGTAGGGGG GAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAG GGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGG AGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGA GGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGG GGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAG GGGAAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0205 a0002c0002t0002g0205	1	8	0.1250	714	c.250 others(729): Show c.250+581_250+582insCCACCCTCCCTTCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCC CCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTACCCTCCCC CTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCT CCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACC CCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCC CTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTT CTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTC CCCCTCCTTCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(707): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCAAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCC GCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	59	0.0169	714	c.241 others(733): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGG CGGGGGGGCTGACCCCCCCCCCACCTCCCTCCTTGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCT GGCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(707): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCC GCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp2 HG01123.hp1 others(44): Show HG00738.hp2 HG01070.hp2 HG01123.hp1 HG01175.hp2 HG01257.hp2 HG01515.hp2 HG01517.hp2 HG01934.hp1 HG01952.hp2 HG01981.hp1 HG02040.hp1 HG02080.hp2 HG02109.hp2 HG02165.hp2 HG02258.hp2 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG03130.hp2 HG03195.hp2 HG03540.hp1 HG03710.hp1 HG06807.hp1 NA18939.hp1 NA18945.hp1 NA18950.hp2 NA18960.hp2 NA18964.hp1 NA18970.hp1 NA19043.hp1 NA19058.hp1 NA19064.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp2 NA19083.hp2 NA19084.hp1 NA19090.hp2 NA20129.hp2 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0010 a0001c0012 a0001c0014 a0001c0018 a0001c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0007t0001 a0001c0010t0001 a0001c0012t0001 a0001c0014t0001 a0001c0018t0003 a0001c0023t0003	a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0081 others(44): Show a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0185 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0002g0121 a0001c0001t0002g0235 a0001c0001t0002g0240 a0001c0001t0002g0242 a0001c0001t0003g0016 a0001c0001t0003g0176 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0184 a0001c0002t0001g0011 a0001c0002t0001g0073 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0003t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0009 a0001c0003t0001g0010 a0001c0003t0001g0013 a0001c0003t0001g0189 a0001c0003t0001g0190 a0001c0003t0001g0211 a0001c0003t0003g0170 a0001c0007t0001g0210 a0001c0010t0001g0005 a0001c0010t0001g0140 a0001c0012t0001g0002 a0001c0012t0001g0003 a0001c0012t0001g0004 a0001c0014t0001g0078 a0001c0018t0003g0177 a0001c0023t0003g0204	47	105	0.4476	714	c.241 others(733): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGG CGGGGGGGCTGACCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCT GGCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(707): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCC GCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0141 a0001c0010t0001g0141	1	59	0.0169	714	c.241 others(733): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGG CGGGGGGGCTGACCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCT GGCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(707): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCCG CCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0205 a0001c0001t0003g0205	1	59	0.0169	714	c.241 others(733): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGG GCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCT GGCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MTERF3_chr8_96234402_96266610	96250646	A A	AGAGGAAG others(707): Show AGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGACGACGACGAAGACGACGACGA AGAAGAAGAAGAAGACGACGACGACGACGACGACGAAGAAGAAGAAGAAG AAGACGACGACGACGACGACGACGACGACGACGACGACGACGACGACGAC GACGACGACGACGACGACGACGAAGACGACGACGACGACGACGACGACGA CGAAGACGACGACGACGACGACGACGACGACGAAGACGACGACGACGACG ACGACGACGACGAAGACGACGACGACGACGACGACGACGACGACGACGAC GAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGA GGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGG AAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAGGAA GAGGAGGAGGAAGAGGAAGAGGAGGAAGAGGAAGAGGAGGAAGAGGAAGA GGAGGAAGAGGAAGAGGAGGAAGAGGAAGAGGAGGAAGAGGAAGAGGAGG AAGAAGAGGAAGAGGAGGAAGAGGAAGAGGAGGAAGAGGAAGAGGAGGAA GAAGAAGAAGAGGAG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	291	0.0034	714	c.677 others(729): Show c.677+259_677+260insCTCCTCTTCTTCTTCTTCCTCCTCTTCCTC TTCCTCCTCTTCCTCTTCCTCCTCTTCCTCTTCTTCCTCCTCTTCCTCTT CCTCCTCTTCCTCTTCCTCCTCTTCCTCTTCCTCCTCTTCCTCTTCCTCC TCTTCCTCTTCCTCCTCTTCCTCTTCCTCCTCCTCTTCCTCCTCCTCTTC CTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCT CTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCC TCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCGTCGTCGTCGTCGTC GTCGTCGTCGTCGTCGTCGTCTTCGTCGTCGTCGTCGTCGTCGTCGTCGT CTTCGTCGTCGTCGTCGTCGTCGTCGTCGTCTTCGTCGTCGTCGTCGTCG TCGTCGTCGTCTTCGTCGTCGTCGTCGTCGTCGTCGTCGTCGTCGTCGTC GTCGTCGTCGTCGTCGTCGTCGTCGTCGTCGTCTTCTTCTTCTTCTTCTT CGTCGTCGTCGTCGTCGTCGTCTTCTTCTTCTTCTTCGTCGTCGTCTTCG TCGTCGTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCCTCTTCCTCTTCCTC	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MYRIP_chr3_39804609_40265321	40203779	T T	TTATATAG others(707): Show TTATATAGTATATATGTGATATATTTATATATAAATATATGTGACATATT TATATATAAATATTTATATTTTATATATTTATATATTTTATATATTTATA TATAAATATTTATATTTTATATATTTATATATTTTATGATTTTATAAAAT ATATAATTTATATAATTTATAAATTATATAATTTATATATTATATATAAT ATGTTTATATTAAATATTATATATTATATATTATATATTATATATTTATA TTAAATATTATATATTTAATATAATATATAATATATTTATATTAAATATT ATATATTTATATATTATTCATATTTATATTAAATATTATATATTTATATA TTATTCATATTTATATTAAATATTATATATTTATATATTATATATATTTA TATTAAATATTATATATTTATATATTATATATATTTATATTAAATATTAT ATATTTATATATTATATATATTTATATTAAATATTATATATTTATATATT ATATATATTTATATTAAATATTATATATTTATATATTATATATATTTATA TTAAATATTATATATTTATATATTATATATAATATATTTATATTGAATAT TATATATTTATATATTATATATAATATATTTATATTGAATATTATATATT TATATATTATATATAATATATTTATATTGAATATTATATATTTATATATT ATATAAATATATATG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	64	0.0156	714	c.166 others(733): Show c.1666-6072_1666-6071insATAGTATATATGTGATATATTTATAT ATAAATATATGTGACATATTTATATATAAATATTTATATTTTATATATTT ATATATTTTATATATTTATATATAAATATTTATATTTTATATATTTATAT ATTTTATGATTTTATAAAATATATAATTTATATAATTTATAAATTATATA ATTTATATATTATATATAATATGTTTATATTAAATATTATATATTATATA TTATATATTATATATTTATATTAAATATTATATATTTAATATAATATATA ATATATTTATATTAAATATTATATATTTATATATTATTCATATTTATATT AAATATTATATATTTATATATTATTCATATTTATATTAAATATTATATAT TTATATATTATATATATTTATATTAAATATTATATATTTATATATTATAT ATATTTATATTAAATATTATATATTTATATATTATATATATTTATATTAA ATATTATATATTTATATATTATATATATTTATATTAAATATTATATATTT ATATATTATATATATTTATATTAAATATTATATATTTATATATTATATAT AATATATTTATATTGAATATTATATATTTATATATTATATATAATATATT TATATTGAATATTATATATTTATATATTATATATAATATATTTATATTGA ATATTATATATTTATATATTATATAAATATATATGTAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40203779	T T	TTATATAG others(707): Show TTATATAGTATATATGTGATATATTTATATATAAATATATGTGATATATT TATATATAAATATTTATATTTTATATATTTATATATTTTATATATTTATA TATAAATATTTATATTTTATATATTTATATATTTTATGATTTTATAAAAT ATATAATTTATATAATTTATAAATTATATAATTTATATATTATATATAAT ATGTTTATATTAAATATTATATATTATATATTATATATTATATATTTATA TTAAATATTATATATTTAATATAATATATAATATATTTATATTAAATATT ATATATTTATATATTATTCATATTTATATTAAATATTATATATTTATATA TTATTCATATTTATATTAAATATTATATATTTATATATTATATATATTTA TATTAAATATTATATATTTATATATTATATATATTTATATTAAATATTAT ATATTTATATATTATATATATTTATATTAAATATTATATATTTATATATT ATATATATTTATATTAAATATTATATATTTATATATTATATATATTTATA TTAAATATTATATATTTATATATTATATATAATATATTTATATTGAATAT TATATATTTATATATTATATATAATATATTTATATTGAATATTATATATT TATATATTATATATAATATATTTATATTGAATATTATATATTTATATATT ATATAAATATATATG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02040.hp1 HG02698.hp1 others(4): Show HG01192.hp2 HG02040.hp1 HG02698.hp1 HG02895.hp2 HG02897.hp2 HG03130.hp1 NA18983.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0001c0001t0003 a0004c0009t0005 a0001c0001t0001 a0001c0001t0003 a0004c0009t0005	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0003g0004 others(4): Show a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0003g0004 a0001c0001t0003g0047 a0004c0009t0005g0100 a0004c0009t0005g0113 a0004c0009t0005g0116	7	70	0.1000	714	c.166 others(733): Show c.1666-6072_1666-6071insATAGTATATATGTGATATATTTATAT ATAAATATATGTGATATATTTATATATAAATATTTATATTTTATATATTT ATATATTTTATATATTTATATATAAATATTTATATTTTATATATTTATAT ATTTTATGATTTTATAAAATATATAATTTATATAATTTATAAATTATATA ATTTATATATTATATATAATATGTTTATATTAAATATTATATATTATATA TTATATATTATATATTTATATTAAATATTATATATTTAATATAATATATA ATATATTTATATTAAATATTATATATTTATATATTATTCATATTTATATT AAATATTATATATTTATATATTATTCATATTTATATTAAATATTATATAT TTATATATTATATATATTTATATTAAATATTATATATTTATATATTATAT ATATTTATATTAAATATTATATATTTATATATTATATATATTTATATTAA ATATTATATATTTATATATTATATATATTTATATTAAATATTATATATTT ATATATTATATATATTTATATTAAATATTATATATTTATATATTATATAT AATATATTTATATTGAATATTATATATTTATATATTATATATAATATATT TATATTGAATATTATATATTTATATATTATATATAATATATTTATATTGA ATATTATATATTTATATATTATATAAATATATATGTAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(707): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATAGT TTAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTT AAACTATATAGTTTAAACTATATAGTTTTAAACTATATAGTTTAAACTAT ATAGTTTTAAACTATATAAACTATATAGTTTTAAACTAGTTTATATATAG TTTTAAACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGT TTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATA TAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTT TTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAA CTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATA TAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTT TTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAA CTATGTAGTTTTAAACTATATAGTTCATGTAGTTTTAAACTATATAGTTT AAAACTATATAGTTTATGTAGTTTTAAACTAGTTTATATTTTTTATATAG TTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0229 a0001c0005t0001g0229	1	38	0.0263	714	c.342 others(733): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA ATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATAG TTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTAT ATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGT TTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAA ACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTAT ATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGT TTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAA ACTACATAGTTTAAAACTATATAGTTTAAAACTACATAAACTATATAGTT TAAAACTACATAAACTATATAGTTTAAACTAGTTTAAAACTATATATAAA CTAGTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTAAAC TATATAGTTTAAAACTATATAGTTTAAACTATATAGTTTAAAACTATATA AACTATATAGTTTTAAACTATATAAACTATATAGTTTAAACTATATAAAC TATATAGTTTAAAACTATATATAAACTATATAGTTTAAAACTATATATAA ACTATATAGTTTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(707): Show TCCTCTCCTCCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCACCCTCC CCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCCTT CCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCT CCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCC CTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTC CCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCC CTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0013 a0001c0001t0026g0013	1	30	0.0333	714	c.433 others(731): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAG GGGAAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAAGGGGAGGGGGGGAGGGTGGGAGG GGAGGGGAGAGGAGGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
PHF21B_chr22_44876162_45015005	44984159	C C	CACCACCA others(707): Show CACCACCATCATCACCATCACCACCACCATCACCACCACCACCATCATCA TCACCATCATCACAACCACCACCATCGTCACCACCATAACCAACACCATC ACAACCACCACCATCACCATAACCATCACCACCATCATCACCATCACCAC CACCATCATCACCATCACCACCACCATCACCATCACCACCATCACCACCA TCATCACCACCACCACCACCACCACCATCACCACCACCATCACTACCATA ACCACCATCACCATCATCACCATCATTACCATCATCATCACCATCACCAC CACCATCATCACCATAACCACCACCACCATCACCATAACCATCACCACCA TCATCACCATCACCACTACCGTCACCATCACCACCACCATCACTACCATC ACCATCACCACCACCATTATCACCATCACCACCATCATCACCACCATCAC CACCATCATCACCATCACCACCACCATCACGATTATCACCATCACCGCCA TCATTACCACCATCATCACCATCACCACCACCATCACCACCGCCACCATC ATCATCACCACCACCACCATCACCAGCGCCACCACCACCATCACCATCAC CACCACCACCATCACCATCGCCACCATCATCACCATTATCATCACCATTG TCACCATTATCACCATCATCACCATTATCACCATTATCCTCACCATCACC ACCATCACCATCACA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp1 HG01516.hp1 others(4): Show HG00733.hp2 HG00741.hp1 HG01516.hp1 HG01517.hp1 HG03209.hp2 HG03239.hp2 HG03688.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0015 a0001c0001 a0009c0015	a0001c0001t0001 a0009c0015t0029 a0001c0001t0001 a0009c0015t0029	a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 others(4): Show a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0226 a0009c0015t0029g0027	7	76	0.0921	714	c.120 others(733): Show c.120+24385_120+24386insTGTGATGGTGATGGTGGTGATGGTGA GGATAATGGTGATAATGGTGATGATGGTGATAATGGTGACAATGGTGATG ATAATGGTGATGATGGTGGCGATGGTGATGGTGGTGGTGGTGATGGTGAT GGTGGTGGTGGCGCTGGTGATGGTGGTGGTGGTGATGATGATGGTGGCGG TGGTGATGGTGGTGGTGATGGTGATGATGGTGGTAATGATGGCGGTGATG GTGATAATCGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGT GATGATGGTGGTGATGGTGATAATGGTGGTGGTGATGGTGATGGTAGTGA TGGTGGTGGTGATGGTGACGGTAGTGGTGATGGTGATGATGGTGGTGATG GTTATGGTGATGGTGGTGGTGGTTATGGTGATGATGGTGGTGGTGATGGT GATGATGATGGTAATGATGGTGATGATGGTGATGGTGGTTATGGTAGTGA TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATG GTGGTGATGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGGTGATGGT GATGATGGTGGTGATGGTTATGGTGATGGTGGTGGTTGTGATGGTGTTGG TTATGGTGGTGACGATGGTGGTGGTTGTGATGATGGTGATGATGATGGTG GTGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGGT	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12			chr22	TogoVar
PLCB1_chr20_8127266_8889900	8662119	T T	TATATATA others(707): Show TATATATAATTATATATAATTATATATAATTATATAATTATATATAATTG TATATAATTATTTATTATATAATTATATATTATTTATTATATAATTATAT AATTATATATTATTTATTATATATTATATAATTATATAATTATATATTAT TTATTATATAATATATAATTATATATTATTTATTATATAATTATATATTA TTTATTATATATATTATTTATTATATAATTATATATTATGTATTATATAA TTATATAATTATATATTATGTATTATATAATTATATATTATGTATTATAT AATTATATAATTATATATTATGTATTATATAATTATATATTATTTATTAT ATAATTATATAATTATATATTATTTATTATATAATTATATAATTATATAT TATTTATTATATAATTATATAATTATATATTATTTATTATATAATTATAT AATTATATATTATTTATTATATAATTATATATTATTTATTATATAATTAT ATATTATTTATTACATAAATATATATTATTTATTATATAATTATATATTA TTTATTACATAAATATATATTATTTATTACATAAGTATATATCACTTATT ATATAATTGCATATAATTATTTATTATATAATTGCATATAATTATTTATT ATATAATTGTATATAGTTATTTATTATATAATTGTATATAGTTATTTATT ATATAATTCTATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0068 a0001c0005t0011g0068	1	25	0.0400	714	c.862 others(731): Show c.862+3417_862+3418insATATAATTATATATAATTATATATAATT ATATAATTATATATAATTGTATATAATTATTTATTATATAATTATATATT ATTTATTATATAATTATATAATTATATATTATTTATTATATATTATATAA TTATATAATTATATATTATTTATTATATAATATATAATTATATATTATTT ATTATATAATTATATATTATTTATTATATATATTATTTATTATATAATTA TATATTATGTATTATATAATTATATAATTATATATTATGTATTATATAAT TATATATTATGTATTATATAATTATATAATTATATATTATGTATTATATA ATTATATATTATTTATTATATAATTATATAATTATATATTATTTATTATA TAATTATATAATTATATATTATTTATTATATAATTATATAATTATATATT ATTTATTATATAATTATATAATTATATATTATTTATTATATAATTATATA TTATTTATTATATAATTATATATTATTTATTACATAAATATATATTATTT ATTATATAATTATATATTATTTATTACATAAATATATATTATTTATTACA TAAGTATATATCACTTATTATATAATTGCATATAATTATTTATTATATAA TTGCATATAATTATTTATTATATAATTGTATATAGTTATTTATTATATAA TTGTATATAGTTATTTATTATATAATTCTATATAAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PROZ_chr13_113153648_113177386	113161882	G G	GTCCCCAC others(707): Show GTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCAC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCT CCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCCCATCCTCCTCCTGCTCA GGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCG TCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCC ACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCC ACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCCCATCCTC CTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCCTGCT CAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCC CCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTG CTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCCTGCTCAGGTC CCCGTCCCTGCCACC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01258.hp1 HG02735.hp1 others(1): Show HG01106.hp1 HG01258.hp1 HG02735.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0016 a0001c0001t0001g0064 a0001c0001t0001g0065	4	275	0.0145	714	c.259 others(729): Show c.259+951_259+952insGTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACCTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCC TCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCCTG CTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTC CCCGTCCCTGCCACGTCCCCCCATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACCTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCT CCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACAT CCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCTCACATCCTCCTCC TGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGG TCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTC CCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCAC CTCCTCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCAC ATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCAC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
RASA3_chr13_113972783_114137623	114113618	C C	CGGCGAGT others(707): Show CGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCCACCCACC ATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCCACCCAC CATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCCACCCA CCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCCACCC ACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCCACC CACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCCAC CCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCCA CCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCC ACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTC CACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGT CCACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAG TCCACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCA GTCCACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATC AGTCCACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCAT CAGTCCACCCACCAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG04115.hp2 HG01175.hp1 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0002 a0001c0010t0002 a0001c0002t0002 a0001c0010t0002	a0001c0002t0002g0062 a0001c0010t0002g0052 a0001c0002t0002g0062 a0001c0010t0002g0052	2	23	0.0870	714	c.55+ others(731): Show c.55+18816_55+18817insATGGTGGGTGGACTGATGGACGCGGTGT GAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGACGCGGTG TGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGACGCGGT GTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGACGCGG TGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGACGCG GTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGACGC GGTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGACG CGGTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGAC GCGGTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGA CGCGGTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGG ACGCGGTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATG GACGCGGTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGAT GGACGCGGTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGA TGGACGCGGTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTG ATGGACGCGGTGTGAGCTGTACGGACATCACTCGCC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
ROBO2_chr3_77035099_77654964	77322942	T T	TTATATTA others(707): Show TTATATTATATTATGGATAATATAATATATTATATTATATTATGGATAAT ATAATATATTATATTATGGATAATATAATATATTATATTATATTATGGAT AATATAATATATTATATTATGGATAATATAATATATTATATTATGGATAA TATAATATATTATATTATGGATAATATAATATATTATATTATGGATAATA TATTATATTATGGATAATATAATATATTATATTATGGATAATATATTATA TTATGGATAATATAATATATTATATTATGGATAATATATTATATTATGGA TAATATATTATATTATGGATAATATATTATATTATGGATAATATATTATA TTATGGATAATATAATATATTATATTATGGATAATATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATAATATATTATATTAT GGATAATATAATATATTATATTATGGATAATATAGTATATTATGGATAAT ATAATATATTATGGATAATATAATATATTATATTATGGATAATATAATAT ATTATATTATGGATAATATAATATATTATATTATGGATAATATAATATAT TATATAATATATTATATTATGGATAATATAATATATTATATAATATATTA TATTATGGATAATATAATATATTATATAATATATTATATTATGGATAATA TAATATATTATATAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03540.hp2 HG02896.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0044 a0001c0001t0005g0159 a0001c0001t0005g0044 a0001c0001t0005g0159	2	120	0.0167	714	c.389 others(735): Show c.389-154406_389-154405insGGATAATATAATATATTATATTAT ATTATGGATAATATAATATATTATATTATGGATAATATAATATATTATAT TATGGATAATATAATATATTATATTATGGATAATATAATATATTATATTA TGGATAATATATTATATTATGGATAATATAATATATTATATTATGGATAA TATATTATATTATGGATAATATAATATATTATATTATGGATAATATATTA TATTATGGATAATATATTATATTATGGATAATATATTATATTATGGATAA TATATTATATTATGGATAATATAATATATTATATTATGGATAATATAATA TATTATATTATGGATAATATAATATATTATATTATGGATAATATAATATA TTATATTATGGATAATATAATATATTATATTATGGATAATATAGTATATT ATGGATAATATAATATATTATGGATAATATAATATATTATATTATGGATA ATATAATATATTATATTATGGATAATATAATATATTATATTATGGATAAT ATAATATATTATATAATATATTATATTATGGATAATATAATATATTATAT AATATATTATATTATGGATAATATAATATATTATATAATATATTATATTA TGGATAATATAATATATTATATAATATATTATATTATGGATAATATAATA TATTATATTATATTATGGATAATATAATATATTATATTAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
SDK1_chr7_3296252_4274000	3976544	A A	AGGGTCCC others(707): Show AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCAC TGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAATC ACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGA ATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGA GAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAG AGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCA GAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCC AGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTC CAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCT CCAGAGAATCACTGG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0063 a0003c0001t0063	a0003c0001t0063g0033 a0003c0001t0063g0033	1	94	0.0106	714	c.199 others(733): Show c.1994+2071_1994+2072insCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAATC ACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAAT CACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGA ATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAG AATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAG AGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCA GAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCC AGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTC CAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCT CCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCC TCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTC CTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3977382	T T	TCCTCCAG others(707): Show TCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGG GTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAG GGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGA GGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAG AGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCA GAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGC AGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CGCAGGGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCC ACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGC CACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTG CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGGGGGCCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGC TGCCACGCAGGGGGC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02922.hp1 HG02559.hp2 HG02922.hp1	a0001 a0001	a0001c0026 a0001c0027 a0001c0026 a0001c0027	a0001c0026t0002 a0001c0027t0020 a0001c0026t0002 a0001c0027t0020	a0001c0026t0002g0086 a0001c0027t0020g0087 a0001c0026t0002g0086 a0001c0027t0020g0087	2	102	0.0196	714	c.199 others(733): Show c.1994+2854_1994+2855insAGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCA CGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCC ACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGC CACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTG CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGGGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGGGGGCCCTCCAGAGAATCACTGGGGGTCCCGGGGC TGAGGCTGCCACGCAGGGGGCCCTCCAGAGAATCACTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(707): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATATTCCATATATATATATATTCCATATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATATTCCATATATATATATTCCATATATA TATATATTCCATATATATATATTCCATATATATATATATTCCATATATAT ATATTCCATATATATATATATTCCATATATATATATTCCATATATATATA TATTCCATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATTCCATATATATATATTCCATATATATATATTCCA TATATATATATTCCATATATATATATTCCATATATATATATTCCATATAT ATATATATTCCATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATTCCATATATATATATTCCATATATATAT ATTCCATATATATATATTCCATATATATATATTCCATATATATATATTCC ATATATATATATTCC	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	230	0.0043	714	c.115 others(731): Show c.115-2573_115-2572insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATGGAATATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATGGAATATATATATATATGG AATATATATATATGGAATATATATATATATGGAATATATATATATGGAAT ATATATATATATGGAATATATATATATGGAATATATATATATATGGAATA TATATATATGGAATATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATATGG AATATATATATATATGGAATATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934358	C C	CATATATA others(707): Show CATATATATATATATTCCATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCAT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	166	0.0060	714	c.115 others(731): Show c.115-2588_115-2587insATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SLC4A8_chr12_51419831_51520763	51498773	C C	CGGAGGCT others(707): Show CGGAGGCTGAGGCACAAGAATCGCTTGAACCCATGAGGCAGAGGTTGCAG TGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACAGAGTGAGACT TTGTCTCAAAAAAAAAAAAAAAAAAGGTAATATAAGTTGCATAAATCTCT TTAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGCCCTTTGGC CCAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTAGCAATGTA GACAAAATATTTTAATTGTGATGACATAAAGAAAAAAAGAAAATTAGAGT AAATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAATTTTTTTTT GAGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGCGTGATCTC AGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAG TCTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCAGCTAATT TTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAGGATGGTCT TAATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAGTTTTAAAAAA TACTTAATGATGATAAGTATTTTGTAATGATACTCAATGATGTGTGCTGT AGTCCCAGCTACTCG	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0047 a0001c0011t0047	a0001c0011t0047g0169 a0001c0011t0047g0169	1	127	0.0079	714	c.308 others(733): Show c.3081+1662_3081+1663insCAAGAATCGCTTGAACCCATGAGGCA GAGGTTGCAGTGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACA GAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAGGTAATATAAGTTGC ATAAATCTCTTTAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATAT GCCCTTTGGCCCAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAAT TAGCAATGTAGACAAAATATTTTAATTGTGATGACATAAAGAAAAAAAGA AAATTAGAGTAAATGTATTACAATGGAATATTGTACAACAGTTTAAAAAA ATTTTTTTTTGAGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTG GCGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCT CCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGC CCAGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCC AGGATGGTCTTAATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAG TTTTAAAAAATACTTAATGATGATAAGTATTTTGTAATGATACTCAATGA TGTGTGCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA	SLC4A8	ENSG00000050438.17	transcript	ENST00000453097.7	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLC4A8_chr12_51419831_51520763	51498773	C C	CGGAGGCT others(707): Show CGGAGGCTGAGGCACAAGAATCGCTTGAACCCATGAGGCAGAGGTTGCAG TGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACAGAGTGAGACT TTGTCTCAAAAAAAAAAAAAAAAAAGGTAATATAAGTTGCATAAATCTCT TTAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGCCCTTTGGC CCAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTAGCAATGTA GACAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGAAAATTAGAGT AAATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAATTTTTTTTT GAGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGCGTGATCTC AGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAG TCTCCTGAGTAGCTGGGACTACAGGCGCACGCCACCATGCCCAGCTAATT TTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAGGATGGTCT TAATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAGTTTTAAAAAA TACTTAATGATGATAAGTATTTTGTAATGATACTCAATGATGTGTGCTGT AGTCCCAGCTACTCG	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA19063.hp2 HG04184.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0034 a0001c0001t0004g0061 a0001c0001t0004g0034 a0001c0001t0004g0061	2	128	0.0156	714	c.308 others(733): Show c.3081+1662_3081+1663insCAAGAATCGCTTGAACCCATGAGGCA GAGGTTGCAGTGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACA GAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAGGTAATATAAGTTGC ATAAATCTCTTTAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATAT GCCCTTTGGCCCAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAAT TAGCAATGTAGACAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGA AAATTAGAGTAAATGTATTACAATGGAATATTGTACAACAGTTTAAAAAA ATTTTTTTTTGAGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTG GCGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCT CCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCGCACGCCACCATGC CCAGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCC AGGATGGTCTTAATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAG TTTTAAAAAATACTTAATGATGATAAGTATTTTGTAATGATACTCAATGA TGTGTGCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA	SLC4A8	ENSG00000050438.17	transcript	ENST00000453097.7	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLC4A8_chr12_51419831_51520763	51498773	C C	CGGAGGCT others(707): Show CGGAGGCTGAGGCACAAGAATCGCTTGAACCCATGAGGCAGAGGTTGCAG TGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACAGAGTGAGACT TTGTCTCAAAAAAAAAAAAAAAAAAGGTAATATAAGTTGCATAAATCTCT TTAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGCCCTTTGGC CCAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTAGCAATGTA GACAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGAAAATTAGAGT AAATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAATTTTTTTTT GAGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGCGTGATCTC AGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAG TCTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCAGCTAATT TTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAGGATGGTCT TAATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAGTTTTAAAAAA TACTTAATGATGATAAGTATTTTGTAATGATACTCAATGATGTGTGCTGT AGTCCCAGCTACTCG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02818.hp1 NA19030.hp2 HG02056.hp1 HG02818.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0023 a0001c0001t0053 a0001c0001t0002 a0001c0001t0023 a0001c0001t0053	a0001c0001t0002g0098 a0001c0001t0023g0075 a0001c0001t0053g0088 a0001c0001t0002g0098 a0001c0001t0023g0075 a0001c0001t0053g0088	3	129	0.0233	714	c.308 others(733): Show c.3081+1662_3081+1663insCAAGAATCGCTTGAACCCATGAGGCA GAGGTTGCAGTGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACA GAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAAGGTAATATAAGTTGC ATAAATCTCTTTAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATAT GCCCTTTGGCCCAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAAT TAGCAATGTAGACAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGA AAATTAGAGTAAATGTATTACAATGGAATATTGTACAACAGTTTAAAAAA ATTTTTTTTTGAGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTG GCGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCT CCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGC CCAGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCC AGGATGGTCTTAATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAG TTTTAAAAAATACTTAATGATGATAAGTATTTTGTAATGATACTCAATGA TGTGTGCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA	SLC4A8	ENSG00000050438.17	transcript	ENST00000453097.7	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
SMOC2_chr6_168436184_168672992	168594937	G G	GAGTATCT others(707): Show GAGTATCTTTCTAGAGGATCGCGGAGCTCCTCCTCCTTCCTGAGGCCTCA CGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTC ACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGGCCT CACGAGGGGCATCTTTCTAGAGGATCGCGGAGCTCCTCCTCCTTCCTGAG GCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGA GGCCTCACGAGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTG AGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCT GAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCC TGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTTCTTC CTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTT CCTGAGGCCTCACGGGCATCTTTCTAGAGGATCGCTGAGCTCCTCCTCCT TCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTC CTAAGGCCTCACAAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTC CTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCT TCCTAAGGCCTCACA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03579.hp1 NA18522.hp2 HG01891.hp2 HG03579.hp1 NA18522.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0010 a0004c0012 a0001c0002 a0002c0010 a0004c0012	a0001c0002t0002 a0002c0010t0001 a0004c0012t0010 a0001c0002t0002 a0002c0010t0001 a0004c0012t0010	a0001c0002t0002g0038 a0002c0010t0001g0130 a0004c0012t0010g0076 a0001c0002t0002g0038 a0002c0010t0001g0130 a0004c0012t0010g0076	3	78	0.0385	714	c.638 others(731): Show c.638-3879_638-3878insTATCTTTCTAGAGGATCGCGGAGCTCCT CCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCC TCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTC CTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGAGGATCGCGGA GCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCG AGCTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGGATCGCC GAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGC CGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCT CCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATC TCCGAGCTCCTCCTTCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGAT CTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGA TCGCTGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGG ATGGCCGAGCTCCTCCTTCCTAAGGCCTCACAAGGGGCATCTTTCTAGAG GATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGA GGATGGCCGAGCTCCTCCTTCCTAAGGCCTCACAAG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPATA6_chr1_48290373_48477204	48384325	G G	GGAGGGAG others(707): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	283	0.0035	714	c.909 others(729): Show c.909+983_909+984insTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
TECPR1_chr7_98209624_98257232	98242993	C C	CCCACCCA others(707): Show CCCACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGCA CACCCACCCATCTGTCCATCTGCACACACCTTCCATCCATCCACACATAT ACCCACCTATCCATCTACCCATGCACTCACCCACCCACTCACTCACCCAT CCACACACCCACCCACACACCCATCCATCCACACACCCACCCACCCATCC ATCCACACATCCACCCACACATCCATCCATCCACCCATCCATACATCCAT CTGCACAACCACCCATCTGTCCATCTGCACATACCTTCCATTCATCCACA CATACACCCACCCACCCACTCACCCACCCATCCACACACCCATCCACCCA TCCACACACCCACCCACCCATCCATCCACACATCCACCCACACACCCATC CATCCATCCATCCGCACACCCACCCATCTGTCCATCTGCACACACCTTCC ATCCATCCACACATATACCCACCTATCCATCTACCCATGCACCCACCCAC CCACCCACTCACCCATCCACACACCCACCCACACACCCATCCATCCACAC AAACACCCACCCATCCATCCATCCACCCATCCATCCATCCATCTGCCCAC ACACCCACCCATCCACCCATCCATCCACACACCCACCTATCCATCCTTCT GCCCACACACCCACCCATCCACCCATCCATCCACACACCCACCTATCCAT CCTTCTGCCCACACA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0219 a0001c0004t0001g0219	1	220	0.0045	714	c.657 others(729): Show c.657+473_657+474insTGTGTGGGCAGAAGGATGGATAGGTGGGTG TGTGGATGGATGGGTGGATGGGTGGGTGTGTGGGCAGAAGGATGGATAGG TGGGTGTGTGGATGGATGGGTGGATGGGTGGGTGTGTGGGCAGATGGATG GATGGATGGGTGGATGGATGGATGGGTGGGTGTTTGTGTGGATGGATGGG TGTGTGGGTGGGTGTGTGGATGGGTGAGTGGGTGGGTGGGTGGGTGCATG GGTAGATGGATAGGTGGGTATATGTGTGGATGGATGGAAGGTGTGTGCAG ATGGACAGATGGGTGGGTGTGCGGATGGATGGATGGATGGGTGTGTGGGT GGATGTGTGGATGGATGGGTGGGTGGGTGTGTGGATGGGTGGATGGGTGT GTGGATGGGTGGGTGAGTGGGTGGGTGGGTGTATGTGTGGATGAATGGAA GGTATGTGCAGATGGACAGATGGGTGGTTGTGCAGATGGATGTATGGATG GGTGGATGGATGGATGTGTGGGTGGATGTGTGGATGGATGGGTGGGTGGG TGTGTGGATGGATGGGTGTGTGGGTGGGTGTGTGGATGGGTGAGTGAGTG GGTGGGTGAGTGCATGGGTAGATGGATAGGTGGGTATATGTGTGGATGGA TGGAAGGTGTGTGCAGATGGACAGATGGGTGGGTGTGCGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGGTGG	TECPR1	ENSG00000205356.10	transcript	ENST00000447648.7	protein_coding	6/25			chr7	TogoVar
TECPR1_chr7_98209624_98257232	98242993	C C	CCCACCCA others(707): Show CCCACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGCA CACCCACCCATCTGTCCATCTGCACACACCTTCCATCCATCCACACATAT ACCCACCTATCCATCTACCCATGCACTCACCCACCCACTCACTCACCCAT CCACACACCCACCCACACACCCATCCATCCACACACCCACCCACCCATCC ATCCACACATCCACCCACACATCCATCCATCCACCCATCCATACATCCAT CTGCACAACCACCCATCTGTCCATCTGCACATACCTTCCATTCATCCACA CATACACCCACCCACCCACTCACCCACCCATCCACACACCCATCCACCCA TCCACACACCCACCCACCCATCCATCCACACATCCACCCACACACCCATC CATCCATCCATCCGCACACCCACCCATCTGTCCATCTGCACACACCTTCC ATCCATCCACACATATACCCACCTATCCATCTACCCATGCACCCACCCAC CCACCCACTCACCCCATCCACACACCCACCCACACACCCATCCATCCACA CAAACACCCACCCATCCATCCATCCACCCATCCATCCATCCATCTGCCCA CACACCCACCCATCCACCCATCCATCCACACACCCACCTATCCATCCTTC TGCCCACACACCACCCATCCACCCATCCATCCACACACCCACCTATCCAT CCTTCTGCCCACACA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0109 a0003c0005t0109	a0003c0005t0109g0236 a0003c0005t0109g0236	1	220	0.0045	714	c.657 others(729): Show c.657+473_657+474insTGTGTGGGCAGAAGGATGGATAGGTGGGTG TGTGGATGGATGGGTGGATGGGTGGTGTGTGGGCAGAAGGATGGATAGGT GGGTGTGTGGATGGATGGGTGGATGGGTGGGTGTGTGGGCAGATGGATGG ATGGATGGGTGGATGGATGGATGGGTGGGTGTTTGTGTGGATGGATGGGT GTGTGGGTGGGTGTGTGGATGGGGTGAGTGGGTGGGTGGGTGGGTGCATG GGTAGATGGATAGGTGGGTATATGTGTGGATGGATGGAAGGTGTGTGCAG ATGGACAGATGGGTGGGTGTGCGGATGGATGGATGGATGGGTGTGTGGGT GGATGTGTGGATGGATGGGTGGGTGGGTGTGTGGATGGGTGGATGGGTGT GTGGATGGGTGGGTGAGTGGGTGGGTGGGTGTATGTGTGGATGAATGGAA GGTATGTGCAGATGGACAGATGGGTGGTTGTGCAGATGGATGTATGGATG GGTGGATGGATGGATGTGTGGGTGGATGTGTGGATGGATGGGTGGGTGGG TGTGTGGATGGATGGGTGTGTGGGTGGGTGTGTGGATGGGTGAGTGAGTG GGTGGGTGAGTGCATGGGTAGATGGATAGGTGGGTATATGTGTGGATGGA TGGAAGGTGTGTGCAGATGGACAGATGGGTGGGTGTGCGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGGTGG	TECPR1	ENSG00000205356.10	transcript	ENST00000447648.7	protein_coding	6/25			chr7	TogoVar
TERT_chr5_1248167_1300068	1290067	A A	ACACGTGA others(707): Show ACACGTGACAGGGACACCCGGGGACAGTGCCTCACTCACCCTACACGTGA CAGTGACACCCGGGGACCGCGCCTCACTCACCCTACACGTGACAGGGACA CCCGGGGGCCGTGCCTCACTCACCCTGAACGTGACAGGGACACCCGGGGA CGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCACCT CACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACC CTGCACGTGACAGGGACACGCGGGGACGGCGCCTCACTCACCCTGCACGT GACAGGGACACCCGGGGGCCTCGCGTCAATCACCCTGCACGTGACAGGGA CACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGG GACGGTGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGACCGCGC CTCACTCACCCTGAACGTGACAGGGACACCCGGGGACAGTGCCTCACTCA CCCTACACGGGACAGGGACACCCGGGGACCGTGCCTCACTCACCCTGCAC GTGACAGGGACACCCGGGGACCGCGCCTCACTCACCCTGCACGTGACAGG GACACCCGGGGACCGCGCCTCACTCACCCTGCACGTGACAGGGACACCCG GGGACCGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGGCCGC GCCTCACTCACCCTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	326	0.0031	714	c.157 others(733): Show c.1573+3245_1573+3246insCAGGGTGAGTGAGGCGCGGCCCCCGG GTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGGTCCCCGGGTGTCCCT GTCACGTGCAGGGTGAGTGAGGCGCGGTCCCCGGGTGTCCCTGTCACGTG CAGGGTGAGTGAGGCGCGGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGA GTGAGGCACGGTCCCCGGGTGTCCCTGTCCCGTGTAGGGTGAGTGAGGCA CTGTCCCCGGGTGTCCCTGTCACGTTCAGGGTGAGTGAGGCGCGGTCCCC GGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCACCGTCCCCGGGTGTCC CTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACG TGCAGGGTGATTGACGCGAGGCCCCCGGGTGTCCCTGTCACGTGCAGGGT GAGTGAGGCGCCGTCCCCGCGTGTCCCTGTCACGTGCAGGGTGAGTGAGG CGCCGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGTGCCGTCC CCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGT CCCTGTCACGTTCAGGGTGAGTGAGGCACGGCCCCCGGGTGTCCCTGTCA CGTGTAGGGTGAGTGAGGCGCGGTCCCCGGGTGTCACTGTCACGTGTAGG GTGAGTGAGGCACTGTCCCCGGGTGTCCCTGTCACGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1291234	C C	CTCACCCT others(707): Show CTCACCCTGCACGTGACAGGGACACGCGGGGACGGCGCCTCACTCACCCT GCACGTGACAGGGACACCCGGGGGCCTCGCGTCAATCACCCTGCACGTGA CAGGGACACCCGGGGACAGTGCCTCACTCACCCTACACGTGACAGGGACA CCCGGGGACCGCGCCTCACTCACCCTGAATGTGACAGGGACACCCGGGGA CGGGGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACGGCACCT CACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACC CTACACGTGACAGGGACACCCGGGGACGGCACCTCACTCACCCTGCACGT GACAGGGACACGCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGA CACCCGGGGGCCTCGCGTCAATCACCCTGCACGTGACAGGGACACCCGGG GACGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGC CTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGCCTCACTCA CCCTACACGTGACAGGGACACCCGGGGACGGCACCTCACTCACCCTACAC GTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGG GACACGCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGACACCCG GGGGCCTCGCGTCAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03942.hp1 HG02056.hp2 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0044 a0001c0002t0001g0036 a0001c0002t0001g0044	2	390	0.0051	714	c.157 others(733): Show c.1573+2078_1573+2079insTTGACGCGAGGCCCCCGGGTGTCCCT GTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGCGTGTCCCTGTCACGTG CAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGA GTGAGGTGCCGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCG CCGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCC GGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCC CTGTCACGTGCAGGGTGATTGACGCGAGGCCCCCGGGTGTCCCTGTCACG TGCAGGGTGAGTGAGGCGCCGTCCCCGCGTGTCCCTGTCACGTGCAGGGT GAGTGAGGTGCCGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGG CGCCGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGTGCCGTCC CCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCCCCGTCCCCGGGTGT CCCTGTCACATTCAGGGTGAGTGAGGCGCGGTCCCCGGGTGTCCCTGTCA CGTGTAGGGTGAGTGAGGCACTGTCCCCGGGTGTCCCTGTCACGTGCAGG GTGATTGACGCGAGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGA GGCGCCGTCCCCGCGTGTCCCTGTCACGTGCAGGGTGA	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TGM2_chr20_38122385_38170270	38124008	A A	ATATATAT others(707): Show ATATATATAATATACCTATTATATATATAAATATACCTATTATATATATA ATATACCTATTATATATAATATACCTATTATATATAAATATACCTATTAT ATATAATATACCTATTATATAATTATATATAATATACCTATTATATGCAT TATATATAATATACCTATTATATGCATTATATATAATATACCTATTATAT GCATTATATATAATATACCTATTATATGCATTATATATAATATACCTATT ATATGCATTTATATATAATATAACCTATTATATGCATTATATATAATATA CCTATTATATGCATTATATAATATATTATATATAATATGCATATTATATG TATTATATATTATATATATTATATATATAATATACATATTATATGTATTA TATATAATATATTATATATATAATATACATATTATATGTATTATATATTA TATATAATATACATATTATATATTATATATTATATACATATATTATATTA TATATTATATCATATTATATATTATATATTATATACATATTATATATTAT ATACATATTATATATTATATATTATATACTATTATACATATATATATATC TAAAATATATAATACACATTATATATTATATAATACACATTATATATTAT ATATATACACATTATATATTATATATAATACACATTATATATTATATATA ATACACATTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0140 a0001c0004t0004g0140	1	322	0.0031	714	c.62 others(725): Show c.6210_*6211insATATATAATGTGTATTATATATAATATATAATGT GTATTATATATAATATATAATGTGTATATATATAATATATAATGTGTATT ATATAATATATAATGTGTATTATATATTTTAGATATATATATATGTATAA TAGTATATAATATATAATATATAATATGTATATAATATATAATATGTATA TAATATATAATATATAATATGATATAATATATAATATAATATATGTATAT AATATATAATATATAATATGTATATTATATATAATATATAATACATATAA TATGTATATTATATATATAATATATTATATATAATACATATAATATGTAT ATTATATATATAATATATATAATATATAATACATATAATATGCATATTAT ATATAATATATTATATAATGCATATAATAGGTATATTATATATAATGCAT ATAATAGGTTATATTATATATAAATGCATATAATAGGTATATTATATATA ATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATA TATAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATAT TATATATAATTATATAATAGGTATATTATATATAATAGGTATATTTATAT ATAATAGGTATATTATATATAATAGGTATATTATATATATAATAGGTATA TTTATATATATAATAGGTATATTATATATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3376		chr20	TogoVar
THADA_chr2_43225851_43601038	43298032	C C	CCCCGGCC others(707): Show CCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCATCTGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCA CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGATCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGTGTGTCAGCCCCCAGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGGTCAGCCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCGCCTCTG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02451.hp1 HG02559.hp1 others(12): Show HG01981.hp1 HG02451.hp1 HG02559.hp1 HG02886.hp2 HG03139.hp2 HG03490.hp2 HG03491.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG04228.hp1 NA18906.hp2 NA19088.hp2 NA20752.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0020	a0001c0001 a0002c0003 a0002c0009 others(3): Show a0001c0001 a0002c0003 a0002c0009 a0006c0005 a0006c0015 a0020c0021	a0001c0001t0001 a0002c0003t0001 a0002c0009t0001 others(3): Show a0001c0001t0001 a0002c0003t0001 a0002c0009t0001 a0006c0005t0001 a0006c0015t0001 a0020c0021t0001	a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 others(12): Show a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0090 a0002c0003t0001g0143 a0002c0009t0001g0030 a0006c0005t0001g0019 a0006c0005t0001g0020 a0006c0005t0001g0027 a0006c0005t0001g0028 a0006c0005t0001g0166 a0006c0005t0001g0167 a0006c0015t0001g0067 a0006c0015t0001g0111 a0020c0021t0001g0031	15	80	0.1875	714	c.443 others(733): Show c.4439-4820_4439-4819insCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GGCTGACCACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCTGGG GGCTGACACACCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGG GCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACACCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	31/37			chr2	TogoVar
THBS2_chr6_169210785_169258846	169242624	C C	CCTTCCCA others(707): Show CCTTCCCACCTTCCTATCTTCCCATCTTCCCACCTTCCCACCACTCCCAC CTTCCCACCACTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCAT CTTCCCATCTTCCCACCTTCCCACCACTCCCACCTTCCCACCACTCCCAC CTTCCCACCTTCCCACCTTCCCATCTTCCCACCTTCCCACCACTCCCACC TTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCATCT TCCCATCTTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCGC TCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATT CCCACCTTCCCACATTCCCACCTTCCCACCACTCCCACCTTCCCACCTTC CCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCCACCTTCC CACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCACATTCCC ACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCCA CCTTCCCACCACTCCCACCTTCCCACCTTCCCACCTTCCCACCTTCCCAC TGCTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCCACT GCTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACCACTCCCACC TTCCCACCTTCCCAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02165.hp2 NA18942.hp2 others(3): Show HG02040.hp2 HG02165.hp2 NA18942.hp2 NA18945.hp2 NA18968.hp2 NA18990.hp1	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0002 a0001c0003t0024 a0001c0009t0002 a0001c0003t0002 a0001c0003t0024 a0001c0009t0002	a0001c0003t0002g0257 a0001c0003t0024g0258 a0001c0009t0002g0012 others(1): Show a0001c0003t0002g0257 a0001c0003t0024g0258 a0001c0009t0002g0012 a0001c0009t0002g0214	6	364	0.0165	714	c.695 others(729): Show c.695-667_695-666insATGGGAAGGTGGGAAGGTGGGAGTGGTGGG AAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGA AGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAA GGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAATGTGGGAAG GTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGG TGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAATGT GGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTG GGAGTGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTGG GAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGG GAAGGTGGGAGTGGTGGGAAGGTGGGAAGATGGGAAGATGGGAAGGTGGG AAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGG AAGGTGGGAAGATGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGA AGGTGGGAGTGGTGGGAAGGTGGGAAGATGGGAAGATGGGAAGGTGGGAA GGTGGGAGTGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAGTGGTGGGA AGGTGGGAAGATGGGAAGATAGGAAGGTGGGAAG	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THNSL2_chr2_88165346_88191627	88181113	T T	TCCCTCTC others(707): Show TCCCTCTCTCTCCTCTCTCTCCTCTCTCCTCTCTCTCTCCTCTCTCTCTC CTCTCTCCTCTCTCCTCTCTCCTCTCTCTCTCTCTCCTCTCTCTCTCCTC TCTCTCTCCTCTCTCCTCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCC TCTCTCTCCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCT CCTCTCTCACTCCTTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCT CCTCTCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCC TCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCCTCTCTCTCC TCTCTCTCCTCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTC CTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCT CCTCTCTCTCTCCTCTCTCTCCTCCTCTCTCTCTCCTCTCTCTCCTCCTC TCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCCTCTCTCTTCTCTC TCTCCTCTCTCTCTCCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCT CTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTC TCCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTC TCTCCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	19	0.0526	714	c.803 others(731): Show c.803-1585_803-1584insCCTCTCTCTCCTCTCTCTCCTCTCTCCT CTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCCTCTCTCCTCTCTCTC TCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCTCTCCT CTCTCTCTCCTCTCTCTCCCTCTCTCTCCTCCTCTCTCTCTCCTCTCTCT CTCCTCTCTCCTCTCTCTCTCCTCTCTCACTCCTTCTCTCTCCTCTCTCT CCTCTCTCTCTCCTCTCTCTCCTCTCTCTCTCTCTCCTCTCTCTCTCCTC TCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTC TCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCTCCTCTCTCTT CTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCT CCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCCTCTCT CTCTCCTCTCTCTCCTCCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCT CTCTCCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCTCCT CTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTC TCTCCTCTCTCTCCTCTCTCTCCTCCTCTCTCTCCTCTCTCTCTCCTCTC TCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCTCC	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
TLCD5_chr11_120320299_120338686	120328773	T T	TGTGTGTG others(707): Show TGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTATGTTTATGTATGCGTATCTGTGTCCTAATCCCTTCTAAG GATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATG TATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGT GTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCAT ATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATATCTGTGTC CTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGT GTGTGTATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTA AGGATAACAGTCATATTGTGTGTGTGTGTGTGTATGTGTATGTGTTTGTA TATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTAT GCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATATTGTGTGTG TGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	262	0.0038	714	c.199 others(731): Show c.199+1138_199+1139insTGTGTGCGTGTATGTGTTTGTATATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCGTATCTGTGT CCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTG TATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGAT AACAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGT TTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTC ATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATG TATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGT GTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTATGCGTATCTGT GTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTA TGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAA GGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAAC AGTCATATTGTGTGTGTGTGTGTGTGTGCGCGTGTG	TLCD5	ENSG00000181264.9	transcript	ENST00000375095.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
TMC6_chr17_78102397_78133755	78115786	G G	GGCGAAGG others(707): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGG AGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAG GAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAG GGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	411	0.0024	714	c.227 others(733): Show c.2277+1482_2277+1483insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCC TGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCT GTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115828	G G	GGCGAAGG others(707): Show GGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAG GGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0394 a0003c0003t0001g0394	1	408	0.0025	714	c.227 others(733): Show c.2277+1440_2277+1441insTCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCT TCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCT GTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMEM120B_chr12_121707752_121787068	121747337	G G	GTAGAAGG others(707): Show GTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGATAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGATAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGATAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAG GCACTGGGATAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGATAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGATAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0177 a0002c0002t0001g0177	1	312	0.0032	714	c.189 others(729): Show c.189-987_189-986insGAAGGCGGGAGGCTGGGGTAGAAGGTGGGA GGCACTGGGATAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGG TAGAAGGTGGGAGGCACTGGGATAGAAGGCGGGAGGCTGGGGTAGAAGGT GGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGATAGAAGGCGGGAGGCT GGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAG GCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCT GGGGTAGAAGGTGGGAGGCACTGGGATAGAAGGTGGGAGGCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGG CTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGT CTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGA AGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGG CACTGGGATAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTA GAAGGTGGGAGGCACTGGGATAGAAGGCGGGAGGCTGGGGTAGAAGGTGG GAGGCTGGGGTAGAAGGTGGGAGGCACTGGGATA	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747411	G G	GCACTGGG others(707): Show GCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGTCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGGCA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0109 a0001c0001t0081g0109	1	284	0.0035	714	c.189 others(729): Show c.189-914_189-913insACTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGTCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar

Search by Variant

Search

Search Results