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
TRPM7_chr15_50552158_50691797	50564248	A A	AAAAATAA others(637): Show AAAAATAAAATAAAATAAAATAAAATAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0006 a0001c0001t0019g0006	1	352	0.0028	644	c.546 others(663): Show c.5468-2441_5468-2440insATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTATTTTAT TTTATTTTATTTTATTTT	TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	38/38			chr15	TogoVar
TWIST2_chr2_238843085_238915534	238870360	C C	CACACCAC others(637): Show CACACCACACCCCACACACACCACACAAACCACACACCCTACACACCCCA CACACACCACACACCACACACACACCACACCCCATACACACCACACCCCA CACACACCACACCCCACACACACCCCACACACACCACACACCCCACACAC ACCACACACCCCATACACACCACACCCCACACACACCCCACACACACCAC ACACCCCACACACACCACACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACACCCCACACACACCACACCCCACACACACC ACACACACCACACACCCCACACACCCCACACACACCACACACCCTACACA CCCCACACACACCACACCCCACACACACCACACCCCATACACACCACACA CACCACACACACCACACACCCTACACACCCCACACACACCACACACCCCA CACACACCACACCCCACACACACCACACACACCACACACCCCACACACAC CACACCCCACACACACCCCACACACCACACACACACCACACACCCCACAC ACACCACACAAACCACACACCCTACACACCCCACACACACCACACACCCC ACACACACCACACCCCACACACACCCCACACACACCACACCCCAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	338	0.0030	644	c.35 others(663): Show c.35+21631_*35+21632insCACACCCCACACACACCACACAAACC ACACACCCTACACACCCCACACACACCACACACCACACACACACCACACC CCATACACACCACACCCCACACACACCACACCCCACACACACCCCACACA CACCACACACCCCACACACACCACACACCCCATACACACCACACCCCACA CACACCCCACACACACCACACACCCCACACACACCACACACCCCACACAC ACCACACCCCACACACACCACACCCCACACACACCACACACCCCACACAC ACCACACCCCACACACACCACACACACCACACACCCCACACACCCCACAC ACACCACACACCCTACACACCCCACACACACCACACCCCACACACACCAC ACCCCATACACACCACACACACCACACACACCACACACCCTACACACCCC ACACACACCACACACCCCACACACACCACACCCCACACACACCACACACA CCACACACCCCACACACACCACACCCCACACACACCCCACACACCACACA CACACCACACACCCCACACACACCACACAAACCACACACCCTACACACCC CACACACACCACACACCCCACACACACCACACCCCACACACACCCCACAC ACACCACACCCCATACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
VIPR2_chr7_159023175_159149867	159129105	G G	GCAGCTTC others(637): Show GCAGCTTCACACTCTGTTCCCTCAAACTGGCCTCTGGGGGGGACAGGGCT GGGGGGACAGGGCCAGGTGACCAGCTTCACACTCTGTTCCCTCAAACTGG ACTCTGGTGGGGACAGGGCCAGGTGACCAGCTTCACACTCTGTTCCCTCA AACTGGACTCTGGTGGGGACAGGGCCAGGTGACCAGCTTCACACTCTGTT CCCTCAAACTGGCCTCTGGGGGGGACAGGGCTGGGGGGACAGGGCCAGGT GACCAGCTTCACACTCTGTTCCCTCAAACTGGACTCTGGTGGGGACAGGG CCAGGTGACCAGCTTCACACTCTGTTCCCTCAAACTGGACTCTGGTGGGG ACAGGGCTGGGGGGACAGGGCCAGGTGACCAGCTTCACACTCTGTTCCCT CAAACTGGCCTCTGGGGGGGACAGGGCTGGGGGGACAGGGCCAGGTGACC AGCTTCACACTCTGTTCCCTCAAACTGGACTCTGGTGGGGACAGGGCCAG GTGACCAGCTTCACACTCTGTTCCCTCAAACTGGCCTCTGGTGGGGACAG GGCTGGGGGGACAGGGCCAGGTGACCAGCTTCACACTCTGTTCCCTCAAA CTGGACTCTGGTGGGGACAGGGCTGGGGGGACAGGGCCAGGTGAC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0266 a0001c0002t0002g0266	1	336	0.0030	644	c.151 others(663): Show c.151+13340_151+13341insGTCACCTGGCCCTGTCCCCCCAGCCC TGTCCCCACCAGAGTCCAGTTTGAGGGAACAGAGTGTGAAGCTGGTCACC TGGCCCTGTCCCCCCAGCCCTGTCCCCACCAGAGGCCAGTTTGAGGGAAC AGAGTGTGAAGCTGGTCACCTGGCCCTGTCCCCACCAGAGTCCAGTTTGA GGGAACAGAGTGTGAAGCTGGTCACCTGGCCCTGTCCCCCCAGCCCTGTC CCCCCCAGAGGCCAGTTTGAGGGAACAGAGTGTGAAGCTGGTCACCTGGC CCTGTCCCCCCAGCCCTGTCCCCACCAGAGTCCAGTTTGAGGGAACAGAG TGTGAAGCTGGTCACCTGGCCCTGTCCCCACCAGAGTCCAGTTTGAGGGA ACAGAGTGTGAAGCTGGTCACCTGGCCCTGTCCCCCCAGCCCTGTCCCCC CCAGAGGCCAGTTTGAGGGAACAGAGTGTGAAGCTGGTCACCTGGCCCTG TCCCCACCAGAGTCCAGTTTGAGGGAACAGAGTGTGAAGCTGGTCACCTG GCCCTGTCCCCACCAGAGTCCAGTTTGAGGGAACAGAGTGTGAAGCTGGT CACCTGGCCCTGTCCCCCCAGCCCTGTCCCCCCCAGAGGCCAGTTTGAGG GAACAGAGTGTGAAGCTG	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VPS16_chr20_2835745_2871732	2842829	T T	TATAGATG others(637): Show TATAGATGTATCTATCTATAGATAGACATATAGATGTATCTATCTATAGA TAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATCTATC TATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATA GATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTA TCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGA TAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATA GATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	408	0.0025	644	c.53+ others(659): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGA TGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATG TATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGATAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATA GATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTA TCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGA TAGATGTATCTATC	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(637): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0203	1	408	0.0025	644	c.53+ others(659): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATG TATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTA TCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGA TGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(637): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	408	0.0025	644	c.53+ others(659): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTA TCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATA GATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGA TGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(637): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0001 a0004c0015t0001	a0004c0015t0001g0152 a0004c0015t0001g0152	1	408	0.0025	644	c.53+ others(659): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATG TATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGA TAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATA GATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGA TGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(637): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	408	0.0025	644	c.53+ others(659): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATG TATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGA TAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATA GATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGA TGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(637): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	408	0.0025	644	c.53+ others(659): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATC TATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGA TAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATA GATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGA TGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(637): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA19087.hp1 NA18984.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0239 a0001c0001t0001g0171 a0001c0001t0001g0239	2	408	0.0049	644	c.53+ others(659): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATC TATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGA TAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATA GATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGA TGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
ZBTB34_chr9_126855639_126890878	126876150	T T	TCCTCCAC others(637): Show TCCTCCACTCCTCTCCAGCCTCCTCTCCCCCCTTCCCCCCTTCCCCCTTC CCCCTTCCCCCTTCCCCTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTCCCCCTCCCCCTTCCCCCCTTCCCCCCTCCCCCTTCCCCCTTCCC CCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTT CCCCCCTTCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTTCCCCC TTCCCCCTTTCCCCTTCCCCCCTTCCCCCCCTTCCCCCTTCCCCCCTTCC CCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTTCCCCCTT CCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCC CCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCC CCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCT TCCCCCCTTTCCCCCTTCTCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCC CCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	246	0.0041	644	c.-10 others(661): Show c.-10-3240_-10-3239insCCTCCACTCCTCTCCAGCCTCCTCTCCC CCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCTTCCCCTCCCCCTTCCCC CTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTCCCCCTTCCCCCCTTCCC CCCTCCCCCTTCCCCCTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCTTCCCCCCTTCCCCCCT TCCCCCTTCCCCCTTTCCCCCTTCCCCCTTTCCCCTTCCCCCCTTCCCCC CCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTC CCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTC CCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCTCCCTTCCCCC CTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCC TTCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(637): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAATAT ATATTATAACTATATTAAATATATAAATTATATAATATATATTATATATT GTATATTATATAATTTATATAATATATTATATGTTATATAATATATATTA TATATTGTATATATTATATTATATATTATATATTTTATATATCATATATA GTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATATT TTTATATATTATATATAATATATATAATTATATATCATATATATTTATAT AATATATGATATATAATATATAATATATATTATGTATTATATAATTATAT AAAATATATCATATATTATATATTATAAATAATATATTATATATATTATA TATTATAAATAATATATTATATATTATATTATATATTATAAATAATATAT TATATATTATATTATATATTATAAATAATATATTATATATTATATTATAT ATTATAAATAATATATTATATATTATATTATATATTATAAATAATATATT ATATATTATATTATATATTATAAATAATATATTATATATTATATTATAAA TAATATATTATATATTATAAATAATATATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0145 a0001c0001t0027g0145	1	302	0.0033	644	c.-1- others(661): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAATATATATTATAACTATATTAAATATATAAATTATATA ATATATATTATATATTGTATATTATATAATTTATATAATATATTATATGT TATATAATATATATTATATATTGTATATATTATATTATATATTATATATT TTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTATA TAGTATACTATATATTTTTATATATTATATATAATATATATAATTATATA TCATATATATTTATATAATATATGATATATAATATATAATATATATTATG TATTATATAATTATATAAAATATATCATATATTATATATTATAAATAATA TATTATATATATTATATATTATAAATAATATATTATATATTATATTATAT ATTATAAATAATATATTATATATTATATTATATATTATAAATAATATATT ATATATTATATTATATATTATAAATAATATATTATATATTATATTATATA TTATAAATAATATATTATATATTATATTATATATTATAAATAATATATTA TATATTATATTATAAATAATATATTATATATTATAAATAATATATTATAT ATAATATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(637): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAATAT ATATTATAACTATATTAAATATATAAATTATATAATATATATTATATATT GTATATTATATAATTTATATAATATATTATATGTTATATAATATATATTA TATATTGTATATATTATATTATATATTATATATTTTATATATCATATATA GTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATATT TTTATATATTATATATAATATATATAATTATATATCATATATATTTATAT AATATATGATATATAATATATAATATATATTATGTATTATATAATTATAT AAAATATATCATATATTATATATTATAAATAATATATTATATATATTATA TATTATAAATAATATATTATATATTATATTATATATTATAAATAATATAT TATATATTATATTATATATTATAAATAATATATTATATATTATATTATAT ATTATAAATAATATATTATATATTATATTATATATTATAAATAATATATT ATATATTATGTTATATATTATAAATAATATATTATATATTATATTATAAA TAATATATTATATATTATAAATAATATATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	302	0.0033	644	c.-1- others(661): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAATATATATTATAACTATATTAAATATATAAATTATATA ATATATATTATATATTGTATATTATATAATTTATATAATATATTATATGT TATATAATATATATTATATATTGTATATATTATATTATATATTATATATT TTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTATA TAGTATACTATATATTTTTATATATTATATATAATATATATAATTATATA TCATATATATTTATATAATATATGATATATAATATATAATATATATTATG TATTATATAATTATATAAAATATATCATATATTATATATTATAAATAATA TATTATATATATTATATATTATAAATAATATATTATATATTATATTATAT ATTATAAATAATATATTATATATTATATTATATATTATAAATAATATATT ATATATTATATTATATATTATAAATAATATATTATATATTATATTATATA TTATAAATAATATATTATATATTATGTTATATATTATAAATAATATATTA TATATTATATTATAAATAATATATTATATATTATAAATAATATATTATAT ATAATATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZFPM1_chr16_88448280_88542031	88461035	G G	GGACCGAG others(637): Show GGACCGAGGGGCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCAGAAGGT CTGGTGAGGACCAAGGGGCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGC AGAAGGTCTGGTGAGGACCAAGGGGCGGGAGGCCCTGGTGAGGACCCAGG GGCAGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCC AGGGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGACCTGGTG ATGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGG CCCTGGTGAGGACCCAGGGGCAGAAGGTCTGGTGAGGACCGAGGGGCGGG GCGGGAGGCCTGGTGAGGACCGAGGGGCAGAAGGTCTGGTGAGGACCAAG GGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGTCTGGTGAGGACC AAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATGGGGCGGGAGACCTGG TGAGGACCGAGGGGCGGGAGACCTGGTGATGACCGAGGGGTGGGGCGGGA GGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGATG GGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGGCCTGGTGAT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0027 a0002c0002t0013g0027	1	318	0.0031	644	c.40+ others(659): Show c.40+7371_40+7372insGCGGGAGGCCTGGTGAGGACCGAGGGGCAG AAGGTCTGGTGAGGACCAAGGGGCGGGGCGGGAGGCCTGGTGAGGACCGA GGGGCAGAAGGTCTGGTGAGGACCAAGGGGCGGGAGGCCCTGGTGAGGAC CCAGGGGCAGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAG GACCCAGGGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGACC TGGTGATGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCG GGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGTCTGGTGAGGACCGAGGG GCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCAGAAGGTCTGGTGAGGA CCAAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGTCTGGTGA GGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATGGGGCGGGAGA CCTGGTGAGGACCGAGGGGCGGGAGACCTGGTGATGACCGAGGGGTGGGG CGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAG GGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGGCCTGGTGAT GACCGAGGGGCGGG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ADGRB3_chr6_68630282_69394506	69100947	A A	AAGGAGAG others(638): Show AAGGAGAGAGGGAAGAAGGCAGGGAGGGAAGGAGGGAGGGAAGGAAGAAA GGAAGGAGGGAGGGAGGGAAGGAAGGAGGGAGGGAGGGAGGGAAGGAAGG AGGGAAGGAAGGAAGGAGGGAGTGAAGGAAGGCAGGGAGTGAGGGAGGGA GGAAAGGAAGGGACGAAGGAAGGAAGGAAGAAGGGAGGGAGGGAAGGAAG GAAGGAAGGAAGAAGGAAGGGAGGGAAGGAAGGAAGGAAGAAGCGAGGGA GGGAAGGAAGGAAGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAGAGAGG GAAGAAGGCAGGGAGGGAAGGAGGGAGGGAAGGAAGAAAGGAAGGAGGGA GGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAAG GAGGGAGTGAAGGAAGGAAGGCAGGGAGTGAGGGAGGGAGGAAAGGAAGG GACGAAGGAAGGAAGAAGGGAGGGAGGGAAGGAAGGAAGGAGGAAGGGAA GGAAGAAAGGAAGGAGGAAGGGAAGGAAGGAGGAAGGGAAGGAAGGAGGA AGGGAAGGAAGGAGGAAGGGAAGGAAGGAGGAAGGGAAGGAAGGAAGGGA GGAAGGAAGGAAGAAGGGAGCGAGGGAGGGAGGGAAGGAAGGAGGG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02109.hp1 HG02145.hp2 others(7): Show HG01071.hp2 HG02109.hp1 HG02145.hp2 HG02451.hp1 HG02717.hp1 HG02965.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0006t0001 a0002c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0056 a0001c0001t0001g0058 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0002g0100 a0001c0003t0001g0071 a0001c0003t0001g0078 a0001c0006t0001g0075 a0002c0005t0001g0048	10	120	0.0833	645	c.248 others(666): Show c.2480+24910_2480+24911insGGAGAGAGGGAAGAAGGCAGGGAG GGAAGGAGGGAGGGAAGGAAGAAAGGAAGGAGGGAGGGAGGGAAGGAAGG AGGGAGGGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAAGGAGGGAGTGAA GGAAGGCAGGGAGTGAGGGAGGGAGGAAAGGAAGGGACGAAGGAAGGAAG GAAGAAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGAAGGAAGGGAGGGA AGGAAGGAAGGAAGAAGCGAGGGAGGGAAGGAAGGAAGGAGGGAGGGAGG GAAGGAAGGAAGGAAGGAGAGAGGGAAGAAGGCAGGGAGGGAAGGAGGGA GGGAAGGAAGAAAGGAAGGAGGGAGGGAGGGAAGGAAGGAGGGAGGGAGG GAAGGAAGGAGGGAAGGAAGGAAGGAGGGAGTGAAGGAAGGAAGGCAGGG AGTGAGGGAGGGAGGAAAGGAAGGGACGAAGGAAGGAAGAAGGGAGGGAG GGAAGGAAGGAAGGAGGAAGGGAAGGAAGAAAGGAAGGAGGAAGGGAAGG AAGGAGGAAGGGAAGGAAGGAGGAAGGGAAGGAAGGAGGAAGGGAAGGAA GGAGGAAGGGAAGGAAGGAAGGGAGGAAGGAAGGAAGAAGGGAGCGAGGG AGGGAGGGAAGGAAGGAGGGA	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	17/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
AMER2_chr13_25156679_25177288	25159098	T T	TTATATAT others(638): Show TTATATATATAATATATATTACATGTATATATTATATATTATATGTTTAT ATATTATATGTATATATGTATATATTATATATATTATATACATATAATAT ATATTCTCATATATATTATATATACTCATATATATAATATATATTCTCAT ATATATATTATATATTCTCATATATATAATATATATATTCTCATATATAA TATATATTCTCATATATATAATATATACTCATATATTATATATATACTCA TATATAATGTATATATTCTAATATATAATATATATTTTCTCATTTATATA ATATATATTCTCATATATAATATATATTCTCATATATGACATATTATATA TATTCTCATATATATTATATATTCTCATATATAATATATATTCTCATATA ATATATTATATATTCTCATATAATATATTATATATGCTCATATATAATAT ATTATATATGCTCATATATAATATATTATATATGCGCATATATAATATAT TATATATGCTCATATATAATATATTATATATGCTCATATATAATATATTA TATATGCTCATATATATTATATATGCTCATATATAATATATTATATATGC TCATATATATTATATATGCTCATATATAATATATTATATATGCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0000 a0001c0001t0081g0000	1	416	0.0024	645	c.10 others(658): Show c.10505_*10506insTGAGCATATATAATATATTATATATGAGCATA TATAATATATATGAGCATATATAATATATTATATATGAGCATATATAATA TATATGAGCATATATAATATATTATATATGAGCATATATAATATATTATA TATGAGCATATATAATATATTATATATGCGCATATATAATATATTATATA TGAGCATATATAATATATTATATATGAGCATATATAATATATTATATGAG AATATATAATATATTATATGAGAATATATATTATATATGAGAATATATAA TATATATGAGAATATATATAATATGTCATATATGAGAATATATATTATAT ATGAGAATATATATTATATAAATGAGAAAATATATATTATATATTAGAAT ATATACATTATATATGAGTATATATATAATATATGAGTATATATTATATA TATGAGAATATATATTATATATGAGAATATATATATTATATATATGAGAA TATATAATATATATATGAGAATATATATTATATATATGAGTATATATAAT ATATATGAGAATATATATTATATGTATATAATATATATAATATATACATA TATACATATAATATATAAACATATAATATATAATATATACATGTAATATA TATTATATATATA	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2580		chr13	TogoVar
ANKLE2_chr12_132720503_132766832	132742761	C C	CTCACCAC others(638): Show CTCACCACCATCATCCTCACCACATCTTCACCATCATCATCCTCATCAGC ATCACAACCATCATCACTACCATCACCCTCACCATCACCACCACAACCAT CATCCTCCCTACCACCACCATTATCTCACTCACCATCACAATCCTCACCA CTACCACCACCACCATCTTCATCCTCACCACCATCATGACCACATCATCA CCATCTTCATCACCATCCTCACCACCATCATCCTCAACACAACCATCATC ACTACCATCATCCTCACTACCACCACCACCGTCACCATCAACCACCATCA CCATAATCACAATCACCAACATCATCACCACCATCATTCTCACTACCACC ATCACCATCAAGTCATCACCACCATCATCATCCTCATTGTCACCATTACC ACAATCCTCACCACTACCACCATCACCACCTTCATCACCATCTTCATCAC CACCATAATCATCTTTCTCACTACCACCGTCATCACCATCACCATCACCA CCATCATTCTCACTACCACCATCACCATCATAATCATCACTATCACCATC ACAACCATTATCCTCACCACCACCATCATTCTCACTACCATCACCACCAC CATCACCACCATCATTCTACCACCGTCATCACCATTATAATCACCA	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA21309.hp2 HG03471.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0279 a0003c0003t0001g0329 a0003c0003t0001g0279 a0003c0003t0001g0329	2	350	0.0057	645	c.135 others(662): Show c.1353+392_1353+393insTGGTGATTATAATGGTGATGACGGTGGT AGAATGATGGTGGTGATGGTGGTGGTGATGGTAGTGAGAATGATGGTGGT GGTGAGGATAATGGTTGTGATGGTGATAGTGATGATTATGATGGTGATGG TGGTAGTGAGAATGATGGTGGTGATGGTGATGGTGATGACGGTGGTAGTG AGAAAGATGATTATGGTGGTGATGAAGATGGTGATGAAGGTGGTGATGGT GGTAGTGGTGAGGATTGTGGTAATGGTGACAATGAGGATGATGATGGTGG TGATGACTTGATGGTGATGGTGGTAGTGAGAATGATGGTGGTGATGATGT TGGTGATTGTGATTATGGTGATGGTGGTTGATGGTGACGGTGGTGGTGGT AGTGAGGATGATGGTAGTGATGATGGTTGTGTTGAGGATGATGGTGGTGA GGATGGTGATGAAGATGGTGATGATGTGGTCATGATGGTGGTGAGGATGA AGATGGTGGTGGTGGTAGTGGTGAGGATTGTGATGGTGAGTGAGATAATG GTGGTGGTAGGGAGGATGATGGTTGTGGTGGTGATGGTGAGGGTGATGGT AGTGATGATGGTTGTGATGCTGATGAGGATGATGATGGTGAAGATGTGGT GAGGATGATGGTGGTGA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	6/12			chr12	TogoVar
ANO9_chr11_412938_447011	430962	G G	GGGGGGTG others(638): Show GGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGACTTCCGCGGGGGTGTG GGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGGCTCCCG TGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTG GGGGCTTCCGCAGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCG CAGGGGTGTGGGGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTG GGGGCTCCCGTGGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTG CGGGTATCTGGGGGGGCTTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATC TGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTC TGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTG TAGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCC CGTGGGTATCTGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTA TCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCT TCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	286	0.0035	645	c.540 others(660): Show c.540-560_540-559insTGCGGAAGCCCCCAGATACCCGCGGACGCC CCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCC CGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCAGACGCC CCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATA CCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGATACCCGCGGACG CCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACC CCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGCAGAAG CCCCCCCAGATACCCGCAGACGCCCCCACACCCCCGCGGAAGCCCCCAGA TACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATACCCACGGG AGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACA CCCCTGCGGAAGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGCAGA CGCCCCCAGATACCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGA TACCCGCGGACGCCCCCACACCCCCGCGGAAGTCCCCAGATACCCGCGGG AGCCCCCACACCCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCT others(638): Show TGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTC CAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCAC CCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCC CCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCAC CCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCC CGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCC CCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCGGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	391	0.0026	645	c.36 others(656): Show c.3604_*3605insGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCA GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGC AGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCC AGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGC AGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCC GGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCC TCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGC AGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTC CGGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
BDH1_chr3_197504783_197560968	197518483	G G	GATCAGTC others(638): Show GATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCCTCAGGCCGACCGC CCCCCATCAGTCACTTCCTGCTCTATGGTCTCCATCTCCCCCTCAGGCTG ACCCCCCCAATCAGTCACTTCCTGCTCTATGGTCTCCATCTCCCCCTCAG GCTGACCCCCCCCATCAGTCACTTCCTGCTCTATGGTCTCCATCTCCCCT CAGGCCGACCCCCCCCATCAGTCACTTCCTGCTCTATGGTCTCCATCCCC CCTCAGGCCGACCCCCCCCCATCAGTCACTTCCTGCTCTATGGACTCCAT CCCCCCCTCAGGCCGACCTCCCCGATCAGTCACTTCCTGCTCTATGGTCT CCATCTCCCCCTCAGGCTGACCCCCCCGATCAGTCACTTCCTGCTCTATG GTCTCCATCTCCCCCTCAGGCTGACCCCCCCAATCAGTCACTTCCTGCTC TATGGTCTCCATCCCCCCTCAGGCCGACCCCCCCCATCAGTCACTTCCTG CTCTATGGTCTCCATCCCCCCTCAGGCCGACCCCCCCCCATCAGTCACTT CCTGCTCTATGGTCTCCATCCCCCCTCAGGCCGACCTCCCCGATCAGTCA CTTCCTGCTCTATGGTCTCCATCTCCCCCTCAGGCTGACCCCCCCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0170 a0001c0001t0170	a0001c0001t0170g0226 a0001c0001t0170g0226	1	319	0.0031	645	c.410 others(662): Show c.410-4068_410-4067insGGGGGGGGTCAGCCTGAGGGGGAGATGG AGACCATAGAGCAGGAAGTGACTGATCGGGGAGGTCGGCCTGAGGGGGGA TGGAGACCATAGAGCAGGAAGTGACTGATGGGGGGGGGTCGGCCTGAGGG GGGATGGAGACCATAGAGCAGGAAGTGACTGATGGGGGGGGTCGGCCTGA GGGGGGATGGAGACCATAGAGCAGGAAGTGACTGATTGGGGGGGTCAGCC TGAGGGGGAGATGGAGACCATAGAGCAGGAAGTGACTGATCGGGGGGGTC AGCCTGAGGGGGAGATGGAGACCATAGAGCAGGAAGTGACTGATCGGGGA GGTCGGCCTGAGGGGGGGATGGAGTCCATAGAGCAGGAAGTGACTGATGG GGGGGGGTCGGCCTGAGGGGGGATGGAGACCATAGAGCAGGAAGTGACTG ATGGGGGGGGTCGGCCTGAGGGGAGATGGAGACCATAGAGCAGGAAGTGA CTGATGGGGGGGGTCAGCCTGAGGGGGAGATGGAGACCATAGAGCAGGAA GTGACTGATTGGGGGGGTCAGCCTGAGGGGGAGATGGAGACCATAGAGCA GGAAGTGACTGATGGGGGGCGGTCGGCCTGAGGGGGGATGGAGACCATAG AGCAGGAAGTGACTGAT	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
C4orf50_chr4_5954375_6023431	6004411	T T	TGATGGTA others(638): Show TGATGGTAATGGTGATGATGGTGATGGTGATGATGATGTGGTGGTGATGG TGATGCTGATGATGGTGATGATGGTGATGGTGATGATAGTGATGATGGTG ATGATGGTGATGGTGATGATGGTGATGGTGATGATATTGATGGTGATGAT ATTGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATGGTGAT GATGGTGATAGTTATGATGGTGATGGTGATGATGTTGATGATGGTGATGA TGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATAGTGATGATGG TGATGATGGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATGATG GTGATGGTGATGATGGTGATGGTGATGGTGATGGTGATGATAGTGATGAT GGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGATGG TGATGATGGTGACGGTGATGATGTGATGGTGATGATGGTGATGATGGTGA TGGTGATGATGGTGATGATGTTGATGATGGTGATGATGGTGATGATGGTG ATGGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGAT GGTGATGATGTGATGGTGATGATGATGGTGATGGTGATGATGGTGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03225.hp1 NA19043.hp2 HG02922.hp2 HG03225.hp1 NA19043.hp2	a0021 a0039 a0081 a0021 a0039 a0081	a0021c0024 a0039c0025 a0081c0069 a0021c0024 a0039c0025 a0081c0069	a0021c0024t0001 a0039c0025t0001 a0081c0069t0001 a0021c0024t0001 a0039c0025t0001 a0081c0069t0001	a0021c0024t0001g0206 a0039c0025t0001g0207 a0081c0069t0001g0326 a0021c0024t0001g0206 a0039c0025t0001g0207 a0081c0069t0001g0326	3	346	0.0087	645	c.963 others(662): Show c.963+3584_963+3585insTCACCATCATCACCATCACCATCATCAT CACCATCACATCATCACCATCACCATCATCACCATCACCATCATCACCAT CATCACTATCATCACCATCACCATCATCACCATCATCACCATCATCAACA TCATCACCATCATCACCATCACCATCATCACCATCATCACCATCACATCA TCACCGTCACCATCATCACCATCATCACCATCATCACCATCACCATCATC ACCATCACCATCATCACCATCATCACTATCATCACCATCACCATCACCAT CACCATCATCACCATCACCATCATCACCATCATCACCATCATCACTATCA TCACCATCACCATCATCACCATCATCACTATCATCACCATCACATCATCA CCATCACCATCATCACCATCATCACCATCATCAACATCATCACCATCACC ATCATAACTATCACCATCATCACCATCATCACCATCACATCATCACCATC ACCATCATCACCATCAATATCATCACCATCAATATCATCACCATCACCAT CATCACCATCACCATCATCACCATCATCACTATCATCACCATCACCATCA TCACCATCATCAGCATCACCATCACCACCACATCATCATCACCATCACCA TCATCACCATTACCATC	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(638): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATTTATATAT ATATAATTATATATATATATAAAATTATATATATAATTATATATATATTA TATATAATTATATATATAATTTTATATATATAATTATATATATATATATA TATAATTATATATATATATAAAATTATATATATAATTATATATATATTAT ATATAATTATATATATATTATATATAATTTTATATATATAATTATATATA TAATTTTATATATATAATTTTATATATATAATTTTATATATATAATTTTA TATATATAATTATATATATAATTTTATATATATAATTATATATATAATTT TATATATATATAATTATATATATAATTTTATATATATATAATTATATATA TAATTTTATATATATATAATTATATATATAATTATATATATATATAATTA TATATATAATTTTATATATATATAATTATATATATAATTATATATATAAT TTTATATATATAATTATATATATAATTTTATATATATATAATTATATATA TAATTTTATATATATAATTATATATATAATTTTATATATATATAAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	1	330	0.0030	645	c.907 others(660): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATAATTATATATA TATAAAATTATATATATAATTATATATATATATAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATATAAAATTATATATATAATTATATATATAAAATTATA TATATAATTATATATATAAAATTATATATATAAAATTATATATATAAAAT TATATATATAAAATTATATATATAATTATATATATAAAATTATATATAAT ATATATATAATTATATATAATATATATATAATTATATATATAATTTTATA TATATATATAATTATATATATATATATATATAATTATATATATAAAATTA TATATATAATTATATATAATATATATATAATTATATATATAATTTTATAT ATATATATAATTATATATATATAAATATATATAATTATATATATATAAAA TTATATATATAATTATATATATATAAAATTATATATATAATTATATATAT ATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CFAP61_chr20_20047532_20365698	20320485	A A	ATTATATA others(638): Show ATTATATATATTATATATGTAATATATATTATATATATTATATATGTAAT ATATATTATATATATTATATATGTAATATATATTATATATATTATATATA TTATATATGCAATATATATTATATATTACATATGCAATATATATATTATA TATTACATATGTAATATATATTACATATGTAATATATATTATATATGTAA TATATATTACATATATTATATATGTAATATATAATATATATTATATATGT AATATATAATATATATTATATATGTAATATATAATATATATTATATATGT AATATATATTATATATATAATATATATTATATATGTAATATATAATATAT ATTATATATGTAATATATATTATATATGTAATATATATTATATATGTAAT ATATAACATATATTATATATGTAATATATATTATATATGTAATATATAAT ATATATTATATATGTAATATATATTATATATATAATATATATTATATATG TAATATATATTATATATATTATATATGTAATATATATTATATATGTAATA TATGTAATATATATTATATATGTAATATATGTAATATATATTATATATGT AATATATGTAATATATATTATATATGTAATATATGTAATATATATT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0021 a0001c0006t0003g0021	1	236	0.0042	645	c.342 others(666): Show c.3423-21346_3423-21345insTTATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATATTATATATATTATATATGCAATATATATTATATA TTACATATGCAATATATATATTATATATTACATATGTAATATATATTACA TATGTAATATATATTATATATGTAATATATATTACATATATTATATATGT AATATATAATATATATTATATATGTAATATATAATATATATTATATATGT AATATATAATATATATTATATATGTAATATATATTATATATATAATATAT ATTATATATGTAATATATAATATATATTATATATGTAATATATATTATAT ATGTAATATATATTATATATGTAATATATAACATATATTATATATGTAAT ATATATTATATATGTAATATATAATATATATTATATATGTAATATATATT ATATATATAATATATATTATATATGTAATATATATTATATATATTATATA TGTAATATATATTATATATGTAATATATGTAATATATATTATATATGTAA TATATGTAATATATATTATATATGTAATATATGTAATATATATTATATAT GTAATATATGTAATATATATT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26			chr20	TogoVar
CNOT3_chr19_54132762_54160681	54133778	T T	TCTCTCCA others(638): Show TCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTTCC TCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTC TCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCT CCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCT CTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACC TCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTC CCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTC TCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCC TCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCT CTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCT CTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCTCCCTCTCCACCTCCCC TCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	223	0.0045	645	c.-42 others(656): Show c.-4266_-4265insCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACC TCCCCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTC TCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCC TCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTC TCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCT CCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTC TCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTC CCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTC TCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCC ACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCTC CCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTC TCTCTTCCTCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3983		chr19	TogoVar
CNTN4_chr3_2093866_3062959	2705509	A A	ATATATAA others(638): Show ATATATAAATATATATATAATTTTATATAAATATATATAAATATATATAA TTTTATATAAATATATAAATATATAAAATTTTATATATTTATATATAAAC ATATATAACTTTATATATAAATATATATAATTTTATATATAAATATATAT AATTTTATATATTTATATATAAATATAATTTTATGTATAAATATATATAA TTATATATATATTTATATATAATTTTATATATAAATATATATAATTATAT ATATTTATGTATAAATATAATTTTATATATAAATATATATAATTTTATAT ATATAATTTTATATATAAATATATATAATTATATATTTATATATAAATAT ATATAATTTTATATATAATATATATAATTTTATATATTATATATAAATAT ATATATAATTTATATATAAATATATAAAATTATATATAAATATATATAAT TTATATATAAATATATATAATTTATATATAAATATGTATAATTTTATATA TATAAATAGATATAATTTTATATATTTATTTATATAAATTTTATATGTTT ATATAAATAAATATATATTTATATATAAAAATTTATATACAAATATATAT AAATATATACAAATATATATATAAATTTATATAAATATATATAAAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02809.hp1 HG02486.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0058 a0001c0001t0003g0008 a0001c0001t0003g0058	2	116	0.0172	645	c.56- others(662): Show c.56-30706_56-30705insTATATAAATATATATATAATTTTATATA AATATATATAAATATATATAATTTTATATAAATATATAAATATATAAAAT TTTATATATTTATATATAAACATATATAACTTTATATATAAATATATATA ATTTTATATATAAATATATATAATTTTATATATTTATATATAAATATAAT TTTATGTATAAATATATATAATTATATATATATTTATATATAATTTTATA TATAAATATATATAATTATATATATTTATGTATAAATATAATTTTATATA TAAATATATATAATTTTATATATATAATTTTATATATAAATATATATAAT TATATATTTATATATAAATATATATAATTTTATATATAATATATATAATT TTATATATTATATATAAATATATATATAATTTATATATAAATATATAAAA TTATATATAAATATATATAATTTATATATAAATATATATAATTTATATAT AAATATGTATAATTTTATATATATAAATAGATATAATTTTATATATTTAT TTATATAAATTTTATATGTTTATATAAATAAATATATATTTATATATAAA AATTTATATACAAATATATATAAATATATACAAATATATATATAAATTTA TATAAATATATATAAAT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24			chr3	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATAAATA others(638): Show AATAAATATATATAAATATATATAAATATAAATATATATATAAATATGTA ATTCTAAATATATATGTAAATATATATAAATATAAATATATTTATAAATA TATAAATATATATATATTTATAAATATATAAATATATATATATTTATAAA TATATAAATATATATATATTTATAAATATATAAATATATATAAAAATATA TATAAATATATAAAAAATATAAATATATATAAATATATAAATATATGTAA ATATATATAAATATATATATAAATATATATATAAATATATATATAAATAT ATATATAAATATATATAAATATATAACTATATAAATAAATATATATAAAT ATATAAATATATAAAAATATATATAAATATATATGTAAATATATAAATAT ATATAAATATATATAAATATATATAAGTATATAAATATATATAAATATAT ATAAGTATATAAATATATATATAAATATATATAAGTATATAAATATATAT ATAAATATATATAAGTATATAAATATATATAAATATATATAAGTATATAA ATATATATATAAATATATATAAGTATATATAAATATATATAAATATATAT AAGTATATATAAATATATAAAAATATATATAAGTATATATAAATAT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0136 a0001c0019t0001g0136	1	264	0.0038	645	c.181 others(664): Show c.1812+3391_1812+3392insATATTTATATATACTTATATATATTT TTATATATTTATATATACTTATATATATTTATATATATTTATATATACTT ATATATATTTATATATATATTTATATACTTATATATATTTATATATATTT ATATACTTATATATATTTATATATATATTTATATACTTATATATATTTAT ATATATATTTATATACTTATATATATTTATATATATTTATATACTTATAT ATATTTATATATATTTATATATATTTATATATTTACATATATATTTATAT ATATTTTTATATATTTATATATTTATATATATTTATTTATATAGTTATAT ATTTATATATATTTATATATATATTTATATATATATTTATATATATATTT ATATATATATTTATATATATTTACATATATTTATATATTTATATATATTT ATATTTTTTATATATTTATATATATTTTTATATATATTTATATATTTATA AATATATATATATTTATATATTTATAAATATATATATATTTATATATTTA TAAATATATATATATTTATATATTTATAAATATATTTATATTTATATATA TTTACATATATATTTAGAATTACATATTTATATATATATTTATATTTATA TATATTTATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
CSMD1_chr8_2930361_4999914	3558334	G G	GTAGTACC others(638): Show GTAGTACCCCGTGTCCACTCCTCCAATGATGAATGGTGCCTCAATGGTAC CCCGTGTCCACTCCTGCAATGATGAATGGTGCCTCAATAGTACCCCGTGT CCACTCCTGCAATGATGAATGATGCCTCAGTAGTACCCCGTGTCCACTCC TCCAATGATGAATGGTGCCTCAGTAGTACCCCGTGTCCACTCCTGCAATG ATGAATGATGCCTCAGTAGTACCCCGTGTCCACTCCTCCAATGATGAATG ATGCCTCAGTAGTACCCCGTGTCCACTCCTCCAATGATGAATGGTGCCTC AATGGTACCCCGTGTCCACTCCTGCAATGATGAATGGTGCCTCAATGGTA CCCCGTGTCCACTCCTGCAATGATGAATGATGCCTCAGTAGTACCCCGTG TCCACTCCTCCAATGATGAATGGTGCCTCAGTAGTACCCCGTGTCCACTT CTCCAATGATGAACGGTGCCTCAATGGTACCCCGTGTCCACTCCTGCAAT GATGAATAGTGTCTCAATAGTACCCCATGTCCACTCCTCCAATGATGAAC GGTGCCTCAATGGTACCCCATGTCGACTCCTCCAACGATGAACGGTGTCT CAATGGTACCCCGTGTCCACTCCTGCAATGATGAATGGTGCCTCAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG00099.hp1 HG00735.hp1	a0009 a0011 a0009 a0011	a0009c0097 a0011c0016 a0009c0097 a0011c0016	a0009c0097t0018 a0011c0016t0048 a0009c0097t0018 a0011c0016t0048	a0009c0097t0018g0089 a0011c0016t0048g0106 a0009c0097t0018g0089 a0011c0016t0048g0106	2	126	0.0159	645	c.134 others(666): Show c.1344+16610_1344+16611insTTGAGGCACCATTCATCATTGCAG GAGTGGACACGGGGTACCATTGAGACACCGTTCATCGTTGGAGGAGTCGA CATGGGGTACCATTGAGGCACCGTTCATCATTGGAGGAGTGGACATGGGG TACTATTGAGACACTATTCATCATTGCAGGAGTGGACACGGGGTACCATT GAGGCACCGTTCATCATTGGAGAAGTGGACACGGGGTACTACTGAGGCAC CATTCATCATTGGAGGAGTGGACACGGGGTACTACTGAGGCATCATTCAT CATTGCAGGAGTGGACACGGGGTACCATTGAGGCACCATTCATCATTGCA GGAGTGGACACGGGGTACCATTGAGGCACCATTCATCATTGGAGGAGTGG ACACGGGGTACTACTGAGGCATCATTCATCATTGGAGGAGTGGACACGGG GTACTACTGAGGCATCATTCATCATTGCAGGAGTGGACACGGGGTACTAC TGAGGCACCATTCATCATTGGAGGAGTGGACACGGGGTACTACTGAGGCA TCATTCATCATTGCAGGAGTGGACACGGGGTACTATTGAGGCACCATTCA TCATTGCAGGAGTGGACACGGGGTACCATTGAGGCACCATTCATCATTGG AGGAGTGGACACGGGGTACTA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3558587	T T	TCTCAATA others(638): Show TCTCAATAGTACCCCATGTCCACTCCTCCAATGATGAACGGTGTCTCAAT GGTACCCCATGTCGACTCCTCCAACGATGAACGGTGTCTCAATAGTACCC CGTGTCCACTCCTGCAATGATGAATAGTGTCTCAATAGTACCCCGTGTTC ACTCCTCCAATGATGAACGGTGCCTCAATGGTACCCCGTGTCCACTCCTG CAATGATGAATAGTGCCTCAATAGTACCCCGTGTCCACTCCTCCAATGAT GAACGGTGCCTCAATGGTACCCCGTGTCCACTCCTGCAATGATGAATAGT GCCTCAATAGTACCCCGTGTCCACTCCTCCAATGATGAATAGTGCCTCAA TAGTACCCCGTGTCCACTCCTCCAATGATGAATAGTGCCTCAATAGTACC CCGTGTCCACTCCCGCAATGATGAATAGTGCTTCAGTAGTACCCCGTGTT CACTCCTCCAATGATGAATAGTGCCTCAATAGTACCCCGTGTCCACTCCT CCAATGATGAATAGTGCCTCAATAGTACCCCGTGTCCACTCCTCCAATGA TGAACGGTGCCTCAATGGTACCCCGTGTCCACTCCTGCAATGATGAATAG TGCCTCAATAGTACCCCGTGTCCACTCCTCCAATGATGAATAGTGC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0089 a0002c0089	a0002c0089t0001 a0002c0089t0001	a0002c0089t0001g0037 a0002c0089t0001g0037	1	126	0.0079	645	c.134 others(666): Show c.1344+16357_1344+16358insGCACTATTCATCATTGGAGGAGTG GACACGGGGTACTATTGAGGCACTATTCATCATTGCAGGAGTGGACACGG GGTACCATTGAGGCACCGTTCATCATTGGAGGAGTGGACACGGGGTACTA TTGAGGCACTATTCATCATTGGAGGAGTGGACACGGGGTACTATTGAGGC ACTATTCATCATTGGAGGAGTGAACACGGGGTACTACTGAAGCACTATTC ATCATTGCGGGAGTGGACACGGGGTACTATTGAGGCACTATTCATCATTG GAGGAGTGGACACGGGGTACTATTGAGGCACTATTCATCATTGGAGGAGT GGACACGGGGTACTATTGAGGCACTATTCATCATTGCAGGAGTGGACACG GGGTACCATTGAGGCACCGTTCATCATTGGAGGAGTGGACACGGGGTACT ATTGAGGCACTATTCATCATTGCAGGAGTGGACACGGGGTACCATTGAGG CACCGTTCATCATTGGAGGAGTGAACACGGGGTACTATTGAGACACTATT CATCATTGCAGGAGTGGACACGGGGTACTATTGAGACACCGTTCATCGTT GGAGGAGTCGACATGGGGTACCATTGAGACACCGTTCATCATTGGAGGAG TGGACATGGGGTACTATTGAG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
DAPK1_chr9_87492867_87713634	87575213	C C	CAATAAAA others(638): Show CAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0124 a0002c0003t0001g0124	1	236	0.0042	645	c.63- others(662): Show c.63-29680_63-29679insATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAA	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCDC2_chr6_24166755_24363059	24238180	G G	GGGAGGAA others(638): Show GGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAATGAAGG GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGA GGGAGGGAGGAATGGAGGAATGGAGGGATGGGGGAGGGGGAGGGGAGGGG GAGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGG AAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGG GGAGGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGGA GACAGAGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0052 a0001c0001t0013g0052	1	216	0.0046	645	c.923 others(664): Show c.923-33079_923-33078insTTCCCCTCCCCTCTGTCTCCCCCTTC CCCTCCCCCTCCCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCCCT TCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCC CTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCC CTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCCATCCCTCCA TTCCTCCATTCCTCCCTCCCTCCCTCCCTCCCTCCATTCCTCCCTCCCTC CCTCCCTTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCATTCC TCCCTCCCTCCCTTCCTCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCDC2_chr6_24166755_24363059	24238180	G G	GGGAGGAA others(638): Show GGGAGGAATGGAGGGAGGAATGGAGGGAGGGAGGGAGGAAGGGAGGGAGG GAGGAATGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAGGGA GGGAGGGAGGGAGGAATGGAGGGAGGGAGGGAGGGAGGGAGGAATGGAGG AATGGAGGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGA GGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGG GGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAAGG GAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGA GGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAA GGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGG AGGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGGAGA CAGAGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAGGGGGGAA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0017 a0001c0001t0006g0017	1	216	0.0046	645	c.923 others(664): Show c.923-33079_923-33078insTTCCCCCCTCCCCTCTGTCTCCCCCT TCCCCTCCCCCTCCCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCC CTTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTC CCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTT CCACTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTC CCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCCCTCCC TCCATTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCATTCCTC CCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCA TTCCTCCCTCCATTCCTCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DOCK8_chr9_209865_470255	400977	T T	TCACCACC others(638): Show TCACCACCTCCTTCACCATCACCACCACCTCCACCATCACCACCACCACC TCCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCAC CACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCCA CCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGC ATCTTCACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCAC CACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCCA CCATCACCATCACCACCACCTCCACCATCACCACCTCCTTCACCATCACC ACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCAC CACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCACCACCT CCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACC ACCACCTCCACCATCACCATCACCACCACCTCCACCATCACCACCTCCTC CACCATCACCACCACCTCCACCACCACCACCTCCCCCACTACCAACAGCT CCTTCACCATCACCACAACATCCACCACCACCATCACCACCACCAC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0040 a0040	a0040c0141 a0040c0141	a0040c0141t0004 a0040c0141t0004	a0040c0141t0004g0064 a0040c0141t0004g0064	1	256	0.0039	645	c.323 others(664): Show c.3234+1729_3234+1730insTCACCATCACCACCACCTCCACCATC ACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTT CACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCA CCACCACCTCCACCACCATCACCACCACCTCCACCATCACCACCACCTCC ACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCACCAC CTCCACCATCACCACCACCACCTCCACCACCACCACCACCTCCACCATCA CCACCACCTCCACCATCACCATCACCACCACCTCCACCATCACCACCTCC TTCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCAC CACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCA CCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACC TCCACCATCACCACCACCTCCACCATCACCATCACCACCACCTCCACCAT CACCACCTCCTCCACCATCACCACCACCTCCACCACCACCACCTCCCCCA CTACCAACAGCTCCTTCACCATCACCACAACATCCACCACCACCATCACC ACCACCACCACCACCTCCT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
FHIT_chr3_59742277_61256452	60861213	T T	TATATATC others(638): Show TATATATCATATATGATATGATATATATCATATATGATATATATCATATA TATATCATATATGATATATATCATATATGATATATATCATATATATATCA TATATGATATATATCATATATATCATATATGATATATATCATATCATATA TGATATATATCATATATGATATATATCATATCATATATGATATATATCAT ATATATCATATCATATATGATATATATCATATATATCATATCATATATGA TATATATGATATATATGATATATCATATCATATCATATATGATATATATG ATATATCATATATATCATATATGATATATATGATATATATGATATATCAT ATCATATCATATATGATATATATGATATATATGATATATCATATATATCA TATATGATATATATGATATATATGATATATCATATCATATCATATATGAT ATATATGATATATATGATATATCATATCATATCATATATGATATATATGA TATATATGATATATCATATCATATCATATATGATATATATGATATATATG ATATATCATATCATATCATATATGATATATATGATATATATGATATATCA TATCATATCATATATGATATATATGATATATATGATATATCATATC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0041 a0001c0002t0006g0041	1	46	0.0217	645	c.-11 others(666): Show c.-110-39203_-110-39202insGATATGATATATCATATATATCAT ATATATCATATATGATATGATATGATATATCATATATATCATATATATCA TATATGATATGATATGATATATCATATATATCATATATATCATATATGAT ATGATATGATATATCATATATATCATATATATCATATATGATATGATATG ATATATCATATATATCATATATATCATATATGATATGATATGATATATCA TATATATCATATATATCATATATGATATATATGATATATCATATATATCA TATATATCATATATGATATGATATGATATATCATATATATCATATATATC ATATATGATATATATGATATATCATATATATCATATATGATATGATATGA TATATCATATATATCATATATATCATATATGATATGATATATATGATATA TATCATATATGATATGATATATATGATATATATCATATATGATATGATAT ATATCATATATGATATATATCATATATGATATGATATATATCATATATGA TATATATGATATATATCATATATGATATATATATGATATATATCATATAT GATATATATCATATATGATATATATATGATATATATCATATATGATATAT ATCATATCATATATGATATAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FRYL_chr4_48492357_48785279	48659514	G G	GGGAGAAG others(638): Show GGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAG AAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAG GGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGA AGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAG AAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAG GGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGA AGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAG AAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAG GGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGA AGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAG AAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAG GGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGA AGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0233 a0001c0003t0001g0233	1	282	0.0036	645	c.-80 others(664): Show c.-80-25025_-80-25024insTTCTCCCTCTTCTCCTTCTCCCTCTT CTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCT TCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCC CTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTT CTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCT TCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCC CTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTT CTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCT TCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCC CTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTT CTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCT TCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCC CTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTTCTCCTTCTCCCTCTT CTCCTTCTCCCTCTTCTCC	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63			chr4	TogoVar
GATC_chr12_120441444_120468749	120467972	G G	GTAATCAG others(638): Show GTAATCAGAAGAATCGATTGAACCTGGGAGGCCGAGGTTGCAGTGAGCGG AGACAGTGACATCGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCT CAAAAAAATAAAGAAAAATAAAAAAAACAAATCCCTCGAACTTTTTCTCT TTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGGATGTAG TGGCGCCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGAGATT CTCCTGCCTCAGCCTCCCGAGGAACTGGGACTACAGGCGCGCGCCACCAC GCCCAGCTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGG CCAGGATGGTCTCGATCTCTTGACCTTGTGATCCGCCCGCCTCGGCCTCC TAAAGTGCTGGGATTGCCACTAGCTTTCTATCAGTAACTCTAAATCCTCA ATATCCTGATCTGTAAAATCTGGTTAACCATACAGGCCGGGTGAGGTGGC TCACGCCTGTAATCCTAGCATTTTGGGAGGCTGAGGCGGGCGGATCACCT CAGGTCGGGAATTCGAGACCAGCCTGACCAACAAGGAGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01981.hp2 HG01069.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0034 a0001c0002t0002g0034	2	408	0.0049	645	c.80 others(656): Show c.8013_*8014insTAATCAGAAGAATCGATTGAACCTGGGAGGCCGA GGTTGCAGTGAGCGGAGACAGTGACATCGCACTCCAGCCTGGGCAACAAG AGCAAAACTCCGTCTCAAAAAAATAAAGAAAAATAAAAAAAACAAATCCC TCGAACTTTTTCTCTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCAC CAGGCTGGGATGTAGTGGCGCCATCTCGGCTCACTGCAACCTCCGCCTCC CGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACTACA GGCGCGCGCCACCACGCCCAGCTCATTTTTGTATTTTTAGTAGAGACGGG GTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCCG CCCGCCTCGGCCTCCTAAAGTGCTGGGATTGCCACTAGCTTTCTATCAGT AACTCTAAATCCTCAATATCCTGATCTGTAAAATCTGGTTAACCATACAG GCCGGGTGAGGTGGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCTGAG GCGGGCGGATCACCTCAGGTCGGGAATTCGAGACCAGCCTGACCAACAAG GAGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTG GCGCATGCCTA	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding		4224		chr12	TogoVar
GDF3_chr12_7684784_7700775	7688838	C C	CTACTCGG others(638): Show CTACTCGGGAGGCTGAGGCAGGATAATCGACTGAACCCAGGGGGCAGAGG CTGCAGAGAGCTGAGATTGTGCCACTACACACCAGCCTGGGTGACAGAGT GAAACCCTGTCTCAAAATATTTCTTTTCTATTTTTTTTTTTTTTTCGAGA CAGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGG CTCACTGCAACCTCTGCCTCCCCCAGGTTCAAGCGATTCTCCTGCCTCAG CCTCCCGAGTAGCTGAGATTACAGGCACCCACCACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTC TCGATCTCCCGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCT GGGATTACAGGTGTGAGCCACCGCACCCAGCCCTCAAAATTAAATAAATA AAATAAAATAAAATTATATGTACAATGAGCCGGGCACGGTGGCTCACGCC TGTAATCCCAGAACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGG AGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGTGTGGTGGTGGGTGCCTGTAGTCCCAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	468	0.0021	645	c.10 others(656): Show c.1039_*1040insACTGGGACTACAGGCACCCACCACCACACCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGA TGGTCTCAATCTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGT TCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCTCATTGTACATATAAT TTTATTTTATTTTATTTATTTAATTTTGAGGGCTGGGTGCGGTGGCTCAC ACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGG TCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTAATCTCAG CTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGGGAGGCAGA GGTTGCAGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAG AGTGAAACTCTGTCTCGAAAAAAAAAAAAAAATAGAAAAGAAATATTTTG AGACAGGGTTTCACTCTGTCACCCAGGCTGGTGTGTAGTGGCACAATCTC AGCTCTCTGCAGCCTCTGCCCCCTGGGTTCAGTCGATTATCCTGCCTCAG CCTCCCGAGTA	GDF3	ENSG00000184344.4	transcript	ENST00000329913.4	protein_coding		945		chr12	TogoVar
GDF3_chr12_7684784_7700775	7688838	C C	CTACTCGG others(638): Show CTACTCGGGAGGCTGAGGCAGGATAATCGACTGAACCCAGGGGGCGGAGG CTGCAGAGAGCTGAGATTGTGCCACTACACACCAGCCTGGGTGACAGAGT GAAACCCTGTCTCAAAATATTTCTTTTCTATTTTTTTTTTTTTTTCGAGA CAGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGG CTCACTGCAACCTCTGCCTCCCCCAGGTTCAAGCGATTCTCCTGCCTCAG CCTCCCGAGTAGCTGAGATTACAGGCACCCACCACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTC TCGATCTCCCGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCT GGGATTACAGGTGTGAGCCACCGCACCCAGCCCTCAAAATTAAATAAATA AAATAAAATAAAATTATATGTACAATGAGCCGGGCACGGTGGCTCACGCC TGTAATCCCAGAACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGG AGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGTGTGGTGGTGGGTGCCTGTAGTCCCAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG03098.hp1 NA18994.hp2 others(1): Show HG01175.hp2 HG03098.hp1 NA18994.hp2 NA19068.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0007 a0001c0001 a0008c0007	a0001c0001t0001 a0008c0007t0001 a0001c0001t0001 a0008c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0025 a0001c0001t0001g0069 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0025 a0001c0001t0001g0069 a0008c0007t0001g0133	4	468	0.0086	645	c.10 others(656): Show c.1039_*1040insACTGGGACTACAGGCACCCACCACCACACCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGA TGGTCTCAATCTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGT TCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCTCATTGTACATATAAT TTTATTTTATTTTATTTATTTAATTTTGAGGGCTGGGTGCGGTGGCTCAC ACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGG TCGGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTAATCTCAG CTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGGGAGGCAGA GGTTGCAGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAG AGTGAAACTCTGTCTCGAAAAAAAAAAAAAAATAGAAAAGAAATATTTTG AGACAGGGTTTCACTCTGTCACCCAGGCTGGTGTGTAGTGGCACAATCTC AGCTCTCTGCAGCCTCCGCCCCCTGGGTTCAGTCGATTATCCTGCCTCAG CCTCCCGAGTA	GDF3	ENSG00000184344.4	transcript	ENST00000329913.4	protein_coding		945		chr12	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(638): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCGGCCGT GTGGCTGCCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTG TGGCTGCCACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCTG TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCGCCCCGCCCCGCCCCTCCCCTCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	422	0.0024	645	c.31 others(656): Show c.3125_*3126insGCGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGCG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGG GGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGG GGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCAG CCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGCC ACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGG CAGTGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCG GGGGGCAGCCACACGGCCGCAGTGTGTTTGGGGGGGCGGGCACGGGGCCG GGGGCAGCCACACGGGCAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCAACGGGGCCGGGGG CAGCCACACGGGCAGTGTGGTTGGGGGGGGGGGCACGGGGCCGGGGGCAG CCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGCC ACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GNPTAB_chr12_101740499_101835959	101747643	A A	ACTACATT others(638): Show ACTACATTTGTAAGATAGGATTAAAAAACAACCATACACCTATATTGAAA ATCCTATCAGCATTTCTCTCCCCCCTACTTAACCTAATCACAATCATTGG AGAACACTGGTAACACCCAATTTAAAAATGGATTGTAATATAAAAGTTCA TTTGTAAATTAGTAGCTTAGAACTTGAATACTTTTGTCTCATAAAAAGTT TACCCATAATACATCTGAAATAGAAAACCAAATCAACATTATAATAAAAT TTCAATTTAAAAATGTGGGTTTTTTTTTTTTTCTGAGACAGAGTCTCACT CACTCTGTTGCCCAGGCTGGAGTGCAGTGGCTCAATCTTGGCTCACCGCA ACCTTCACCTCCAGGGTTCAAGTGATTCTCCCGCCTCAGCGTCCTAAGTA GCTGAGACTACAGATGCCCACCACCATGCCCGGCTAATTTTTGCATTTTT GGTAAAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAATTCCTGA TTTCAAGTGATCTGCCCACCTTGGCTTCCCAAAGTGCTGGGATGACAGGC ATGAGCCACAGCACCCGGCCTAAAATGTGCTCTTTATGTTTTCCATCTAG GATTTCTATATTTACCCTGTCTTCCCTCTCCCCAACCATGTAGGAC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18973.hp2 NA18986.hp2 others(5): Show NA18943.hp2 NA18973.hp2 NA18986.hp2 NA18998.hp2 NA19004.hp2 NA19063.hp2 NA19074.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0339 others(5): Show a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0339 a0001c0001t0001g0343 a0001c0001t0001g0346 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351	8	392	0.0204	645	c.369 others(662): Show c.3694-403_3694-402insGTCCTACATGGTTGGGGAGAGGGAAGAC AGGGTAAATATAGAAATCCTAGATGGAAAACATAAAGAGCACATTTTAGG CCGGGTGCTGTGGCTCATGCCTGTCATCCCAGCACTTTGGGAAGCCAAGG TGGGCAGATCACTTGAAATCAGGAATTCAAGACCAGCCTGGCCAACATGG TGAAACCTCATCTTTACCAAAAATGCAAAAATTAGCCGGGCATGGTGGTG GGCATCTGTAGTCTCAGCTACTTAGGACGCTGAGGCGGGAGAATCACTTG AACCCTGGAGGTGAAGGTTGCGGTGAGCCAAGATTGAGCCACTGCACTCC AGCCTGGGCAACAGAGTGAGTGAGACTCTGTCTCAGAAAAAAAAAAAAAC CCACATTTTTAAATTGAAATTTTATTATAATGTTGATTTGGTTTTCTATT TCAGATGTATTATGGGTAAACTTTTTATGAGACAAAAGTATTCAAGTTCT AAGCTACTAATTTACAAATGAACTTTTATATTACAATCCATTTTTAAATT GGGTGTTACCAGTGTTCTCCAATGATTGTGATTAGGTTAAGTAGGGGGGA GAGAAATGCTGATAGGATTTTCAATATAGGTGTATGGTTGTTTTTTAATC CTATCTTACAAATGTAG	GNPTAB	ENSG00000111670.16	transcript	ENST00000299314.12	protein_coding	20/20			chr12	TogoVar
HPCAL1_chr2_10297904_10432604	10399229	C C	CCGCCGCT others(638): Show CCGCCGCTGCCGCTACCACCATCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCAT CACCACCACCACCATCACCGCCACCACCATCACCATCACCACCACCACCA CCACCACCACCATCACCACCACCACCATCACCGCCACCACCATCACCATC ACCACCACCATCACCACCACCACCATCACCGCCACCACCATCACCATCAC CACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCA CCATCACCACCATCATCACCACCATCACCACCGCCACCATCACCACCACC ACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCATCACCACCACCACCACCATCACCACCATCATCACCACCATCACCA CCGCCACCACCACCACCATCACCACCGCCACCACCACCACCATCACCACC ACCACCACCACCACCATCACCACCACCATCACCACCACCACCACCATCGC CGCCACCACCACCACCACCACCACCACCACCATCACCACCACCATCACCA CCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18983.hp1 NA19010.hp1 NA18971.hp2 NA18983.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0048 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0002g0048 a0001c0001t0003g0198 a0001c0001t0003g0199	3	314	0.0096	645	c.-25 others(662): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCATCACCACCATCACC ACCACCACCACCACCACCATCACCACCACCACCATCACCGCCACCACCAT CACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCATCA CCGCCACCACCATCACCATCACCACCACCATCACCACCACCACCATCACC GCCACCACCATCACCATCACCACCACCACCATCACCACCACCACCACCAC CACCATCACCACCACCACCACCATCACCACCATCATCACCACCATCACCA CCGCCACCATCACCACCACCACCACCATCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCATCACCACCACCACCACCATCACCAC CATCATCACCACCATCACCACCGCCACCACCACCACCATCACCACCGCCA CCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCATC ACCACCACCACCACCATCGCCGCCACCACCACCACCACCACCACCACCAC CATCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCA CCACCACCACCACCATC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TACGGAAT others(638): Show TACGGAATATATATACGGAATGTATATACGGAATATATATATATGGAATA TATATACGGAATATATATATATGGAACATATATACGGAATATATATATAT GGAACATATATACGGAATATATACATATGGAACATATATATACGGAATAT ATACATATGGAACATATATATACGGAATATATACATATGGAACATATATA TGGAATATATACATATGGAACATATATATGGAATATATACATATGGAACA TATATATGGAATATATACATATGGAACATATATATGGAATATATACATAT GGAACATATATATGGAATATATACATATGGAACATATATATGGAATATAT ACATATGGAACATATATATGGAATATATACATATGGAATATATATATGGA ATATATACATATGGAATATATATATGGAATATATATATATGGAATATATA TATATGGAATATATATATGGAATATATATATATGGAATATATATATGGAA TATATATATATGGAATATATATATATGGAATATATATATATGGAATATAT ATATATGGAATATATATATATGGAATATATATATGGAATATATATATATG GAATATATATATATGGAATATATATATATGGAATATATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0031 a0003c0003t0031	a0003c0003t0031g0109 a0003c0003t0031g0109	1	323	0.0031	645	c.-21 others(656): Show c.-2147_-2146insACGGAATATATATACGGAATGTATATACGGAATA TATATATATGGAATATATATACGGAATATATATATATGGAACATATATAC GGAATATATATATATGGAACATATATACGGAATATATACATATGGAACAT ATATATACGGAATATATACATATGGAACATATATATACGGAATATATACA TATGGAACATATATATGGAATATATACATATGGAACATATATATGGAATA TATACATATGGAACATATATATGGAATATATACATATGGAACATATATAT GGAATATATACATATGGAACATATATATGGAATATATACATATGGAACAT ATATATGGAATATATACATATGGAACATATATATGGAATATATACATATG GAATATATATATGGAATATATACATATGGAATATATATATGGAATATATA TATATGGAATATATATATATGGAATATATATATGGAATATATATATATGG AATATATATATGGAATATATATATATGGAATATATATATATGGAATATAT ATATATGGAATATATATATATGGAATATATATATATGGAATATATATATG GAATATATATATATGGAATATATATATATGGAATATATATATATGGAATA TATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322912	T T	TATATATA others(638): Show TATATATATGGAATATATACGGAATATATATATAATATATATGGAATATA TATATACGGAATATATATAATATATATACGGAATATATATATACGGAATA TATATAATATATATACGGAATATATATATAATATATATATAATATATATA CGGAATATATATATAATATATAAATGGAATATATATACGGAATATATATA TAATATATAAATGGAATATATATATACGGAATATATATATAATATATAAA TGGAATATATATATACGGAATATATATATAATATATATATGGAATATATA TATACGGAATATATATATAATATATATATGGAATATATATATACGGAATA TATATATAATATATATATGGAATATATATATACGGAATATATATATTATA TATATGGAATATATATATACGGAATATATATATAATATATATATGGAATA TATATACGGAATATATATATATGGATATATATACGGAATATATATATATG GAATATATATATATGGAATGTGTATATATGGAATATATATATATGGAATG TGTATATATGGAATATATATATATGGAATGTGTATATATGGAATATATAT ATGGAATGTGTATATATGGAATATATATATGGAATATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	323	0.0031	645	c.-21 others(656): Show c.-2144_-2143insATATATATGGAATATATACGGAATATATATATAA TATATATGGAATATATATATACGGAATATATATAATATATATACGGAATA TATATATACGGAATATATATAATATATATACGGAATATATATATAATATA TATATAATATATATACGGAATATATATATAATATATAAATGGAATATATA TACGGAATATATATATAATATATAAATGGAATATATATATACGGAATATA TATATAATATATAAATGGAATATATATATACGGAATATATATATAATATA TATATGGAATATATATATACGGAATATATATATAATATATATATGGAATA TATATATACGGAATATATATATAATATATATATGGAATATATATATACGG AATATATATATTATATATATGGAATATATATATACGGAATATATATATAA TATATATATGGAATATATATACGGAATATATATATATGGATATATATACG GAATATATATATATGGAATATATATATATGGAATGTGTATATATGGAATA TATATATATGGAATGTGTATATATGGAATATATATATATGGAATGTGTAT ATATGGAATATATATATGGAATGTGTATATATGGAATATATATATGGAAT ATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2057		chr21	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(638): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAG GGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAG GAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGA AGAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAG GAGGGGAGGAGGGAGGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGA AAGAGTCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	386	0.0026	645	c.-46 others(656): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCTC CTCCCGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTGCCCTC CCTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCTCTC CTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTCCCC TCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTCCTC TCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCT CCTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCTTTC TCCCTCCTCCTCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCCACTTCTCC CTCCTCCCCTTCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTTCTC CTCTTTTGTCCCTCCTCTCCCTCCTCCCTTTCACCTTTTCCTCCTCCTCC CCTCCTCCTTTCTCCCTCCCCCTCCCCTCATCTTTTCTCCCTCCTCCTCC TCTCCTCTTTCTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCCCCTTCA CTTCTTCCTTCTCCTTCTTTCCTTCCTCCTCCTCCTCTCTTTTCTCCCTC CACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(638): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAG GGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAG GAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGA AGAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAG GAGGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAA AGAGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0164 a0001c0001t0063g0164	1	386	0.0026	645	c.-46 others(656): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCTC CTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTGCCTC CTCCTCCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCTCTC CTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTCCCC TCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTCCTC TCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCT CCTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCTTTC TCCCTCCTCCTCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCCACTTCTCC CTCCTCCCCTTCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTTCTC CTCTTTTGTCCCTCCTCTCCCTCCTCCCTTTCACCTTTTCCTCCTCCTCC CCTCCTCCTTTCTCCCTCCCCCTCCCCTCATCTTTTCTCCCTCCTCCTCC TCTCCTCTTTCTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCCCCTTCA CTTCTTCCTTCTCCTTCTTTCCTTCCTCCTCCTCCTCTCTTTTCTCCCTC CACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(638): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAG GAGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGG AGAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGG AGGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAG TGAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAA GGAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGA GGAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGA GGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGA GGAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAG AAGAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGA GGAGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAA AGAGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0005 a0001c0001t0008g0005	1	386	0.0026	645	c.-46 others(656): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCTC CTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTGCCTC CTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCTCTCC TCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTCCCCT CCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTCCTCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTC CTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCTTTCT CCCTCCTCCTCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCCACTTCTCCC TCCTCCCCTTCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTTCTCC TCTTTTGTCCCTCCTCTCCCTCCTCCCTTTCACCTTTTCCTCCTCCTCCC CTCCTCCTTTCTCCCTCCCCCTCCCCTCATCTTTTCTCCCTCCTCCTCCT CTCCTCTTTCTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCCCCCTTCA CTTCTTCCTTCTCCTTCTTTCCTTCCTCCTCCTCCTCTCTTTTCTCCCTC CACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KIF1A_chr2_240708767_240825219	240812880	G G	GGGATCCG others(638): Show GGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTT CACCTCGGGGATCCGCCTTCACCTCGGAGATCTGCCTTCACCTCGGGGAT CCGCCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCTGCCTTCACCT CAAGGATCCGCCTTCACCTCAAGGATCCACCTTCACCTCAGGGATCAGCC TTCACCTCGAGATCCACCTTCACCTCAGGCAGGGATCAGCCTTCACCTCA GGGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGATCTGCCTTC ACCTCTGGGTCCGCCTTCACCTCAAGATCCACCTTCACCTCAGGGATCAG CCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCAGCCATCACTCAGG GATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCA CCTCGGGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGGGGATCC GCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCTGCCTTCACCTCG GGGATCCGCCTTCACCTCAAGGATCCGCCTTCACCTCGGGGATCAGCCTT CACCTCGGGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0064 a0002c0064	a0002c0064t0001 a0002c0064t0001	a0002c0064t0001g0143 a0002c0064t0001g0143	1	330	0.0030	645	c.-61 others(662): Show c.-61+7241_-61+7242insTTGAGGTGAAGGCTGATCCCCGAGGTGA AGGCGGATCCCCGAGGTGAAGGCTGATCCCCGAGGTGAAGGCGGATCCTT GAGGTGAAGGCGGATCCCCGAGGTGAAGGCAGATCCCCGAGGTGAAGGCG GATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTGATCCCCGAGGT GAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCC CCGAGGTGAAGGCGGATCCCTGAGTGATGGCTGATCCCCGAGGTGAAGGC AGATCCCCGAGGTGAAGGCTGATCCCTGAGGTGAAGGTGGATCTTGAGGT GAAGGCGGACCCAGAGGTGAAGGCAGATCCCGAGGTGAAGGCGGATCCCC GAGGTGAAGGCAGATCCCTGAGGTGAAGGCTGATCCCTGCCTGAGGTGAA GGTGGATCTCGAGGTGAAGGCTGATCCCTGAGGTGAAGGTGGATCCTTGA GGTGAAGGCGGATCCTTGAGGTGAAGGCAGATCCCCGAGGTGAAGGCAGA TCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCAGATCTCCGAGGTGA AGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCC GAGGTGAAGGCGGATCC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240812924	A A	AGCCTTCA others(638): Show AGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTC GGGGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCT TCACCTCGGGGATCTGCCTTCACCTCAAGGATCCGCCTTCACCTCAAGGA TCCACCTTCACCTCAGGGATCAGCCTTCACCTCGAGATCCACCTTCACCT CAGGCAGGGATCAGCCTTCACCTCAGGGATCTGCCTTCACCTCGGGGATC CGCCTTCACCTCGGGATCTGCCTTCACCTCTGGGTCCGCCTTCACCTCAA GATCCACCTTCACCTCAGGGATCAGCCTTCACCTCGGGGATCTGCCTTCA CCTCGGGGATCAGCCATCACTCGGGGATCCGCCTTCACCTCGGGGATCCG CCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGG GGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCTGCCTTC ACCTCGGGGATCCGCCTTCACCTCAAGGATCCGCCTTCACCTCGGGGATC CGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTC AAGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp2 HG02559.hp1 others(3): Show HG01884.hp2 HG02145.hp2 HG02559.hp1 HG02630.hp2 HG03041.hp1 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0011 a0001c0040 a0003c0009 a0001c0011 a0001c0040 a0003c0009	a0001c0011t0009 a0001c0011t0010 a0001c0011t0044 others(2): Show a0001c0011t0009 a0001c0011t0010 a0001c0011t0044 a0001c0040t0009 a0003c0009t0006	a0001c0011t0009g0149 a0001c0011t0009g0151 a0001c0011t0010g0150 others(3): Show a0001c0011t0009g0149 a0001c0011t0009g0151 a0001c0011t0010g0150 a0001c0011t0044g0153 a0001c0040t0009g0152 a0003c0009t0006g0154	6	330	0.0182	645	c.-61 others(662): Show c.-61+7197_-61+7198insGGATCCCCGAGGTGAAGGCGGATCCCCG AGGTGAAGGCGGATCCTTGAGGTGAAGGCTGATCCCCGAGGTGAAGGCGG ATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCTTGAGGTG AAGGCGGATCCCCGAGGTGAAGGCAGATCCCCGAGGTGAAGGCGGATCCC CGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTGATCCCCGAGGTGAAGGC GGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGT GATGGCTGATCCCCGAGGTGAAGGCAGATCCCCGAGGTGAAGGCTGATCC CTGAGGTGAAGGTGGATCTTGAGGTGAAGGCGGACCCAGAGGTGAAGGCA GATCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCAGATCCCTGAGGTG AAGGCTGATCCCTGCCTGAGGTGAAGGTGGATCTCGAGGTGAAGGCTGAT CCCTGAGGTGAAGGTGGATCCTTGAGGTGAAGGCGGATCCTTGAGGTGAA GGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCG AGGTGAAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGG ATCCCCGAGGTGAAGGC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(638): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCACTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	370	0.0027	645	c.-27 others(656): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGTGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LAMC1_chr1_183018420_183150592	183149453	T T	TCCTCACA others(638): Show TCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTCA CATCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACC ACACAGCTCACATCCCTCTCCTCACACACCACACAGCCCACACCCCTCTC CTCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTC ACATCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACAC CACACAGCTCACATCCCTCTCCTCACACACCACACAGCTCACACCCCTCT CCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCTC ACACCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTCTCCTCCTC ACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTCACACCC CTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACACA GCTCACACCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTCCTCA CACACCACACAGCTCACACCCCTCTCCTGCTCACACACCACACAGCCCAC ACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp2 NA18992.hp2 NA18980.hp2 NA18992.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0261 a0001c0003t0003g0282 a0001c0003t0003g0261 a0001c0003t0003g0282	2	308	0.0065	645	c.66 others(656): Show c.6663_*6664insCCTCACACCACAGAGCCCACACCCCTCTCCTCAC ACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCTCACACCC CTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACACA GCCCACACCCCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCA CACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCTCACACC CCTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACAC AGCTCACACCCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCA CACACCACACAGCTCACACCCCTGTCCTCCTCACACACCACACAGCCCAC ACCCCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACC ACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACATCCCTCTC CTCACACACCACACAGCTCACACCCCTGTCCTCCTCACACACCACACAGC CCACACCCCTCCTCACACACCACACAGCTCACACCCCTCTCCTGCTCACA CACCACACAGCCCACACCCCTCTCCTCCTCACACACCACACAGCTCACAC CCCTCTCCTCA	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3862		chr1	TogoVar
LRFN2_chr6_40386591_40592364	40491696	G G	GTGTTTCC others(638): Show GTGTTTCCCTCACTCTATTTTGCCGTGTGACGGGTAGGTAGGCAGCTTAC CCTCTCTGAGTGTGTTTCCCTCTCTCCATTTTGCTGTGTGACTGTGGGTA GGTAGGCAGCTTACCCTCTCTGAGTGTGTTTCCCTCACTCTATTTTGCCG TGTGACTGTGGGTAGGTAGGCAGCTTACCCTCTCTGAGTGTCTGTTTCCC TCATTCTATTTTGCCGTGTGACTGTGGGTAGGTAGGCAGCTTACCCTCTC TGAGTGTGTTTCCCTCACTCTATTTTGCCGTGTGACTGTGGGTAGGTAGG CAGCTTACCCTCTCTGAGTGTCTGTTTCCCTCACTCTATTTTGCTGTGTG ACTGTGGGTAGGTAGGCAGCTTACCCTCTCTGAGTGTGTTTCCCTCTCTC CATTTTGCTGTGTGACTGTGGGTAGGTAGGCAGCTTACCCTCTCTGAGTG TGTTTCCCTCACTCTATTTTGCCGTGTGACTGTGGGTAGGTAGGCAGCTT ACCCTCTCTGAGTGTCTGTTTCCCTCATTCTATTTTGCCGTGTGACTGTG GGTAGGTAGGCAGCTTACCCTCTCTGAGTGTCTGTTTCCCTCACTCTATT TTGCTGTGTGACTGTGGGTAGGTAGGCAGCTTACCCTCTCTGAGTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp2 HG02027.hp1 others(7): Show HG00735.hp1 HG01069.hp2 HG02027.hp1 HG02027.hp2 HG02080.hp1 HG02683.hp1 HG03710.hp2 NA18973.hp1 NA19057.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0002 a0001c0006t0002	a0001c0001t0001g0083 a0001c0001t0001g0099 a0001c0001t0001g0215 others(7): Show a0001c0001t0001g0083 a0001c0001t0001g0099 a0001c0001t0001g0215 a0001c0001t0002g0141 a0001c0002t0001g0044 a0001c0002t0001g0102 a0001c0002t0001g0151 a0001c0002t0001g0158 a0001c0003t0002g0032 a0001c0006t0002g0168	10	228	0.0439	645	c.-18 others(664): Show c.-18-58566_-18-58565insAACTCAGAGAGGGTAAGCTGCCTACC TACCCACAGTCACACAGCAAAATAGAGTGAGGGAAACAGACACTCAGAGA GGGTAAGCTGCCTACCTACCCACAGTCACACGGCAAAATAGAATGAGGGA AACAGACACTCAGAGAGGGTAAGCTGCCTACCTACCCACAGTCACACGGC AAAATAGAGTGAGGGAAACACACTCAGAGAGGGTAAGCTGCCTACCTACC CACAGTCACACAGCAAAATGGAGAGAGGGAAACACACTCAGAGAGGGTAA GCTGCCTACCTACCCACAGTCACACAGCAAAATAGAGTGAGGGAAACAGA CACTCAGAGAGGGTAAGCTGCCTACCTACCCACAGTCACACGGCAAAATA GAGTGAGGGAAACACACTCAGAGAGGGTAAGCTGCCTACCTACCCACAGT CACACGGCAAAATAGAATGAGGGAAACAGACACTCAGAGAGGGTAAGCTG CCTACCTACCCACAGTCACACGGCAAAATAGAGTGAGGGAAACACACTCA GAGAGGGTAAGCTGCCTACCTACCCACAGTCACACAGCAAAATGGAGAGA GGGAAACACACTCAGAGAGGGTAAGCTGCCTACCTACCCGTCACACGGCA AAATAGAGTGAGGGAAACA	LRFN2	ENSG00000156564.10	transcript	ENST00000338305.7	protein_coding	1/2			chr6	TogoVar

Search by Variant

Search

Search Results