Joint Open Genome and Omics Platform (JoGo)

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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
EXOC2_chr6_480154_698139	520626	C C	CCACCGAG others(643): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCGCCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0007 a0007	a0007c0023 a0007c0023	a0007c0023t0002 a0007c0023t0002	a0007c0023t0002g0051 a0007c0023t0002g0051	1	272	0.0037	650	c.238 others(671): Show c.2380+11842_2380+11843insCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGCGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
FBXO47_chr17_38931432_38972403	38946628	A A	AAATAAAA others(643): Show AAATAAAAATATATAAAAATATATACATATATAAATATAAATATATAATA TATAAATATATAAATATATAAATATAAATATATAAAAATATATAAATATA TAAAAATATATAAATATATAAAAATATATAAATATATATAAATATATATA AATATATAAATATATAAATATATATAAATATATAAATATATAAAAATATA TAAATATATAAATATATAAAAATATATAAATACATAAATATATAAATATA TAAATATATATACATAAATATATAAATATATAAATATATAAATACATAAT ATATATAAATATAAAATATATATAATATATAAAATATATTAAAAATATAA AAATATATATAAAAAATATATAAATATATAAAAATATATAAAAAATATAT ACACATATAAATATATATAAAAATATATAAATATATATAAAAATATATAA ATATATATTATATATAAATATATAATATATAAATATATATAAATATATAA ATATATATAAATATATACAATATATAAATATATATAAATATATACAATAT ATAAATATATATAAATATATACAATATATAAATATATATAAATATATACA ATATATAAATATATATAAATATATATAATATATAAATATATATAAATATA T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0288 a0001c0001t0002g0288	1	344	0.0029	650	c.617 others(667): Show c.617-1493_617-1492insATATATTTATATATATTTATATATTATA TATATTTATATATATTTATATATTGTATATATTTATATATATTTATATAT TGTATATATTTATATATATTTATATATTGTATATATTTATATATATTTAT ATATTGTATATATTTATATATATTTATATATTTATATATATTTATATATT ATATATTTATATATAATATATATTTATATATTTTTATATATATTTATATA TTTTTATATATATTTATATGTGTATATATTTTTTATATATTTTTATATAT TTATATATTTTTTATATATATTTTTATATTTTTAATATATTTTATATATT ATATATATTTTATATTTATATATATTATGTATTTATATATTTATATATTT ATATATTTATGTATATATATTTATATATTTATATATTTATGTATTTATAT ATTTTTATATATTTATATATTTATATATTTTTATATATTTATATATTTAT ATATATTTATATATTTATATATTTATATATATTTATATATATTTATATAT TTTTATATATTTATATATTTTTATATATTTATATATTTTTATATATTTAT ATTTATATATTTATATATTTATATATTATATATTTATATTTATATATGTA TATATTTTTATATATTTTTATT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
GAS6_chr13_113815549_113869076	113817328	C C	CGGGACAC others(643): Show CGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCCCCACG GGACACATCCCTCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGG ACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGAC ACATCCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCAGGGGACA CATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACA TCCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACAT CCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACATCC CCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCC CCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCC TCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTC CCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCC TCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTC CAGGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCA G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0033 a0001c0003t0001g0033	1	143	0.0070	650	c.35 others(661): Show c.3535_*3536insCTGGAGGGAGGGGGTATGTGTCCCGTGGGGGGAG GGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGCCCCGAGGAGGGAGGG GGGATGTGTCCCCTGGAGGGAGGGGGTATGTGTCCCGTGGGGGGAGGGGG GATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGA TGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGTATG TGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTG TCCCCTGGAGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTC CCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGTCCC GTGGGGGGAGGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCG AGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGTCCCCTG GAGGGAGGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGAGG AGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGTATGTGTCCCGTGGGG GGAGGAGGGATGTGTCCCGTGGGGGGAGGGGGTATGTGTCCCGTGGGGGG AGGGGGGATGTGTCCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding		3220		chr13	TogoVar
GNPTAB_chr12_101740499_101835959	101747643	A A	ACTACATT others(643): Show ACTACATTTGTAAGATAGGATTAAAAAACAACCATACACCTATATTGAAA ATCCTATCAGCATTTCTCTCCCCCCTACTTAACCTAATCACAATCATTGG AGAACACTGGTAACACCCAATTTAAAAATGGATTGTAATATAAAAGTTCA TTTGTAAATTAGTAGCTTAGAACTTGAATACTTTTGTCTCATAAAAAGTT TACCCATAATACATCTGAAATAGAAAACCAAATCAACATTATAATAAAAT TTCAATTTAAAAATGTGGGTTTTTCTTTTTTTTTTTTCTGAGACAGAGTC TCACTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCTCAATCTTGGCTCA CCGCAACCTTCACCTCCAGGGTTCAAGTGATTCTCCCGCCTCAGCGTCCT AAGTAGCTGAGACTACAGATGCCCACCACCATGCCCGGCTAATTTTTGCA TTTTTGGTAAAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAATT CCTGATTTCAAGTGATCTGCCCACCTTGGCTTCCCAAAGTGCTGGGATGA CAGGCATGAGCCACAGCACCCGGCCTAAAATGTGCTCTTTATGTTTTCCA TCTAGGATTTCTATATTTACCCTGTCTTCCCTCTCCCCAACCATGTAGGA C	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0006	1	392	0.0026	650	c.369 others(667): Show c.3694-403_3694-402insGTCCTACATGGTTGGGGAGAGGGAAGAC AGGGTAAATATAGAAATCCTAGATGGAAAACATAAAGAGCACATTTTAGG CCGGGTGCTGTGGCTCATGCCTGTCATCCCAGCACTTTGGGAAGCCAAGG TGGGCAGATCACTTGAAATCAGGAATTCAAGACCAGCCTGGCCAACATGG TGAAACCTCATCTTTACCAAAAATGCAAAAATTAGCCGGGCATGGTGGTG GGCATCTGTAGTCTCAGCTACTTAGGACGCTGAGGCGGGAGAATCACTTG AACCCTGGAGGTGAAGGTTGCGGTGAGCCAAGATTGAGCCACTGCACTCC AGCCTGGGCAACAGAGTGAGTGAGACTCTGTCTCAGAAAAAAAAAAAAGA AAAACCCACATTTTTAAATTGAAATTTTATTATAATGTTGATTTGGTTTT CTATTTCAGATGTATTATGGGTAAACTTTTTATGAGACAAAAGTATTCAA GTTCTAAGCTACTAATTTACAAATGAACTTTTATATTACAATCCATTTTT AAATTGGGTGTTACCAGTGTTCTCCAATGATTGTGATTAGGTTAAGTAGG GGGGAGAGAAATGCTGATAGGATTTTCAATATAGGTGTATGGTTGTTTTT TAATCCTATCTTACAAATGTAG	GNPTAB	ENSG00000111670.16	transcript	ENST00000299314.12	protein_coding	20/20			chr12	TogoVar
GRK4_chr4_2958571_3045760	2961219	T T	TAGTAACT others(643): Show TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATATATAGTAACTATATTAATATAGTTAGTATATATTAATATATAGT AACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAA TATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTA TATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATAT AGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAATATAGTTAGTATATTAATATATAGTAACTATATTA A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0014 a0014	a0014c0018 a0014c0018	a0014c0018t0006 a0014c0018t0006	a0014c0018t0006g0256 a0014c0018t0006g0256	1	268	0.0037	650	c.-28 others(661): Show c.-2852_-2851insAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAATATATAGTAACTATATTAATATAGTTAGTAT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAATATAGTTAGTATATTAATATATAGTAACTATATTA ATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTT AGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAAT ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAAT ATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTAT ATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATA GTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATT AATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGT TAGTATATTAATATATAGTAACTATATTAATATAGTTAGTATATTAATAT ATAGTAACTATATTAA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2351		chr4	TogoVar
GTPBP6_chrX_299759_323796	316000	G G	GACACACA others(643): Show GACACACACACACACACACACACACACACACTAAATACATCCCGACAGGG ACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACATC CCAGCAGGGACACAAACACATACACACGCAGACACACACACACACACAAA CACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAGACAC ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA CACATACGCAGACACACACACACACACACACAGTAAATACATCCCGACAG GGACAGACACACACACACAGACACACACACAGAGACACACACAAACACAG TAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACA CACACACACACACACACTAAATACATCCCGACAGGGACAGACACAGACAC ACACACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGACACA AACACATACACACGCAGACACACACACACACACACAAACAGTAAATACAT CCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAG TAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACA C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0036 a0002c0036	a0002c0036t0001 a0002c0036t0001	a0002c0036t0001g0071 a0002c0036t0001g0071	1	155	0.0065	650	c.488 others(665): Show c.488-702_488-701insGTGTGTGTGTCTGCGTGTGTATGTGTTTGT GTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG TCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGT GTGTCTGCGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTG TTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTA TTTAGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGT GTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG TCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGT GTGTGTGTGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTG TGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCCTG TCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTGT ATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTC TGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGT GTGTGTGTGTGTGTGTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCTCCT others(643): Show TCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCC CCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCC TCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTTC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGAC GCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCT CTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACG CCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTC TCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGC CCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCT C	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0181 a0001c0002t0003g0181	1	408	0.0025	650	c.633 others(667): Show c.633-1181_633-1180insTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGC CCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCT CCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCT GCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTC CTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGA CGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTC TCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGAC GCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCT CTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACG CCCCACTCCCTCCTCTCTCCTC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCTCCT others(643): Show TCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCC CCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCG TGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCT CCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACG CCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTC TCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGC CCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCT C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01257.hp2 HG01175.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0002 a0001c0001t0001 a0001c0007t0002	a0001c0001t0001g0199 a0001c0007t0002g0166 a0001c0001t0001g0199 a0001c0007t0002g0166	2	408	0.0049	650	c.633 others(667): Show c.633-1181_633-1180insTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGC CCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCT CCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTT CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCC TCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGAC GCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCT CTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACG CCCCACTCCCTCCTCTCTCCTC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
IFNAR1_chr21_33319970_33364864	33321822	A A	ATGTGGAA others(643): Show ATGTGGAACATACATGCGTGGAACCAATACATATGTGGAACATACATGCG TGGAACCAATACATATGTGGAACATACATGCGTGGAACCAATACATATGT GGAACATACATGCGTGGAACCAATACATATGTGGAACATACATGCGTGGA ACCAATACATATGTGGAACATACATGCGTGGAACCAATACATATGTGGAA CATACATGCGTGGAACCAATACATATGTGGAACATACATGCGTGGAACCA ATACATATGTGGAACATACATGCGTGGAACCAATACATATGTGGAACATA CATGTGTGGAACCAATACATATGTGGAACTGTGGAACCAATACATATGTG GACCATACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAA CCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGTGGACC ATACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAA TACATATGTGGAACATACATGTGTGGAACCAATACATATGTGGAACATAC ATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACA TATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACATGT G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	323	0.0031	650	c.-32 others(661): Show c.-3234_-3233insTGTGGAACATACATGCGTGGAACCAATACATATG TGGAACATACATGCGTGGAACCAATACATATGTGGAACATACATGCGTGG AACCAATACATATGTGGAACATACATGCGTGGAACCAATACATATGTGGA ACATACATGCGTGGAACCAATACATATGTGGAACATACATGCGTGGAACC AATACATATGTGGAACATACATGCGTGGAACCAATACATATGTGGAACAT ACATGCGTGGAACCAATACATATGTGGAACATACATGCGTGGAACCAATA CATATGTGGAACATACATGTGTGGAACCAATACATATGTGGAACTGTGGA ACCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGTGGAC CATACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCA ATACATATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATA CATGTGTGGAACCAATACATATGTGGAACATACATGTGTGGAACCAATAC ATATGTGGAACATACATGTGTGGAACCAATACATATGTGGACCATACATG TGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATAT GTGGACCATACATGTG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3147		chr21	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(643): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGC AGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGAGGAGAGACAGGCAGG GAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAG GAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAT GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGG CAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAG GGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGA GGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAG GGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAG GGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGG GAGGACGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGG A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0039 a0001c0005t0002g0039	1	204	0.0049	650	c.978 others(667): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCA GGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGG AGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGG AGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGC AGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGG GAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAG GAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAG GGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGG GAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCA GGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGACGGGCAGGGAGGA GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAAGGAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	859664	C C	CGGGTGTG others(643): Show CGGGTGTGAGTCGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTG TGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGA GTGATGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGG TGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGT CACGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCG GGACGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCACGGGAG GGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGT GCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCACGGGACGGGTGCGA GTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTG GTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGT CTCGGGACGGGTGTGAGTGGTGTCACGGGGTGGGTGTGAGTGGTGTCTCG GGGTGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGCAGTGGTGTCTCGGGA T	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	294	0.0034	650	c.153 others(669): Show c.1530-4959_1530-4958insATCCCGAGACACCACTGCACACCCAC CCCGAGACACCACTCACACCCACCCCGAGACACCACTCACACCCACCCCG TGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGAC ACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGAGACACCACTCGCACCCGTCCCGTGACACCACTC GCACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCAC CCGTCCCGAGACACCACTCGCACCCCTCCCGTGACACCACTCGCACCCGT CCCGTGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCG AGACACCACTCGCACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGA CACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACC ACTCACACCCGTCCCGAGACATCACTCACACCCGTCCCGTGACACCACTG CACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACA CCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACC CGTCCCGTGACACGACTCACACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	953651	A A	ACACGGAC others(643): Show ACACGGACCCCAAACCAGCCTCCTGCACATCCACACAGACACCCACCCCA AACCAGCCTCCTGCACGTCCACACAGACACCCACCCCAAACCAGCCTCCT GCACGTCCACACAGACACGGACCCCAAACCAGCCTCCTGCACGTCCACAC AGACACCCACCCCAAACCAGCCTCCTGCACGTCCACACAGACACACACCC CAAACCAGCCTCCTGCACATCCACACAGACACAGACCCGAAACCAGCTTC CTACATGTCCACACAGACACCCACCCCACACCAGCTTCCTACATGTCCAC ACAGACACCCACCCCACACCAGCCTCCTACACGTTCACACAGACACGGAC CCCAAACCAGCCTCCTGCACATCCACACAGACACAGACCCGAAACCAGCC TCCTGCACATCCACACAGACACAGACCCGAAACCAGCTTCCTACACGTCC ACACAGACACCCACCCCACACCAGCTTCCTACATGTCCACACAGACACCC ACCCCACACCAGCCTCCTACACGTTCACACAGACACGGACCCCAAACCAG CCTCCTGCACATCCACACAGACACAGACCCGAAACCAGCCTCCTGCACAT CCACACAGACACAGACCCGAAACCAGCTTCCTACACGTCCACACAGACAC C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	294	0.0034	650	c.503 others(665): Show c.503+705_503+706insGGTGTCTGTGTGGACGTGTAGGAAGCTGGT TTCGGGTCTGTGTCTGTGTGGATGTGCAGGAGGCTGGTTTCGGGTCTGTG TCTGTGTGGATGTGCAGGAGGCTGGTTTGGGGTCCGTGTCTGTGTGAACG TGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACATGTAGGAAGCTG GTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCGGGTCTG TGTCTGTGTGGATGTGCAGGAGGCTGGTTTCGGGTCTGTGTCTGTGTGGA TGTGCAGGAGGCTGGTTTGGGGTCCGTGTCTGTGTGAACGTGTAGGAGGC TGGTGTGGGGTGGGTGTCTGTGTGGACATGTAGGAAGCTGGTGTGGGGTG GGTGTCTGTGTGGACATGTAGGAAGCTGGTTTCGGGTCTGTGTCTGTGTG GATGTGCAGGAGGCTGGTTTGGGGTGTGTGTCTGTGTGGACGTGCAGGAG GCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGCAGGAGGCTGGTTTGGGG TCCGTGTCTGTGTGGACGTGCAGGAGGCTGGTTTGGGGTGGGTGTCTGTG TGGACGTGCAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGATGTGCAGG AGGCTGGTTTGGGGTCCGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LRRC36_chr16_67321815_67390204	67341007	G G	GTATTCTA others(643): Show GTATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	194	0.0052	650	c.71- others(663): Show c.71-766_71-765insGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATA	LRRC36	ENSG00000159708.18	transcript	ENST00000329956.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
LY75_chr2_159798355_159909756	159874319	G G	GTTTTGTA others(643): Show GTTTTGTAAATATATATAAATATATATATGTTTTGTAAATATATATAAAT ATATATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATATATAT AAATATATATGTTTTGTAAATATATATAAATATATATATGTTTTGTAAAT ATATAAATATATATTTTGTAAATATATATATTTTGTAAATATATATTGTA AATATATATAAATATATATTTTGTGAATTATATATATATTGTAAATTATA TATATATTTTGTAAATATATATAGTAAATATATATATTTTGTAAATATGT ATATATATTTTGTAAATATATATATTTTGTAAATATGTATATATATTTTG TAAATATATACATTTTGTAAATATATAAATATATACATTTTGTAAATATA TAAAAATATATACATTTTGTAAATATATAAAAATATATGTTGTAAATATA TAAAAATATATATATTTTGTAAATATATAAATATATATATTTTGTAAATA TATATATATTTTGTAAATATATATAAATATATACATATTTTGTAAATATA TAAATATATACATATTTTGTAAATCTATATAAATATATACATATTTTGTA AATCTATATAAATATATACATATTTTGTAAATCTATATAAATATATACAT A	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA19001.hp2 NA18999.hp1 NA19001.hp2	a0013 a0013	a0013c0026 a0013c0026	a0013c0026t0001 a0013c0026t0001	a0013c0026t0001g0232 a0013c0026t0001g0233 a0013c0026t0001g0232 a0013c0026t0001g0233	2	330	0.0061	650	c.197 others(669): Show c.1974+1124_1974+1125insTATGTATATATTTATATAGATTTACA AAATATGTATATATTTATATAGATTTACAAAATATGTATATATTTATATA GATTTACAAAATATGTATATATTTATATATTTACAAAATATGTATATATT TATATATATTTACAAAATATATATATATTTACAAAATATATATATTTATA TATTTACAAAATATATATATTTTTATATATTTACAACATATATTTTTATA TATTTACAAAATGTATATATTTTTATATATTTACAAAATGTATATATTTA TATATTTACAAAATGTATATATTTACAAAATATATATACATATTTACAAA ATATATATATTTACAAAATATATATACATATTTACAAAATATATATATTT ACTATATATATTTACAAAATATATATATAATTTACAATATATATATAATT CACAAAATATATATTTATATATATTTACAATATATATTTACAAAATATAT ATATTTACAAAATATATATTTATATATTTACAAAACATATATATATTTAT ATATATTTACAAAACATATATATTTATATATATTTACAAAACATATATAT TTATATATATTTACAAAACATATATATTTATATATATTTACAAAACATAT ATATATTTATATATATTTACAAAA	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
MAD1L1_chr7_1810795_2237945	1996270	T T	TCCCCCCG others(643): Show TCCCCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTC TACACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTACACACGGCTC CTGGGCGGGCAGGGTCCCCCCGGGTCTATACACGGCTGCTGGGCGGGCAG GGTCCCCCCGGGTCTATACACGGCTGCTGGGCGGGCAGGGTCCCCCGGGT TTACACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTACACACGGCT GCTGGGCGGGCAGGGTCCCCCCCGGGTCTACACACGGCTCCTGGGCGGGC AGGGTCCCCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGTCCCCCCC GGGTCTACACACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTACACAC GGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTACACACGGCTCCTGGGCG GGCAGGGTCCCCCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGTCCC CCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGTCCCCCGGGTCTACA CACGGCTCCTGGGCGGGCAGGGTCCCCCCGGGTCTACACACGGCTCCTGG GCGGGCAGGGTCCCCCCCGGGTCTACACACGGCTCCTGGGCGGGCAGGGT C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	264	0.0038	650	c.141 others(669): Show c.1416+5794_1416+5795insGACCCTGCCCGCCCAGGAGCCGTGTG TAGACCCGGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGG GGACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGACCCTGCCCGC CCAGGAGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGCCCAGGAGCCGT GTGTAGACCCGGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCG GGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGACCCTGC CCGCCCAGGAGCCGTGTGTAGACCCGGGGGGGACCCTGCCCGCCCAGGAG CCGTGTGTAGACCCGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAGAC CCGGGGGGGACCCTGCCCGCCCAGCAGCCGTGTGTAGACCCGGGGGGACC CTGCCCGCCCAGGAGCCGTGTGTAAACCCGGGGGACCCTGCCCGCCCAGC AGCCGTGTATAGACCCGGGGGGACCCTGCCCGCCCAGCAGCCGTGTATAG ACCCGGGGGGACCCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGAC CCTGCCCGCCCAGGAGCCGTGTGTAGACCCGGGGGGACCCTGCCCGCCCA GGAGCCGTGTGTAGACCCGGGGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
MAN2B2_chr4_6570189_6628362	6579111	T T	TCACCACC others(643): Show TCACCACCACCACCACCACCACCACCATCACCACCACCACCCTTCACCAC CACCACCACCACCACCACCATCACCACCACCACCCTTCACCACCATCACC ACCACCACCATCACCACCACCATCACCATCACCACCACCACCATCACCAC CATCACCATCACCACCACCATCACCATCACCACCACCACCACCACCACCA CCACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACC ACCACCATCACCACCATCACCACCACCACCATCACCACCACCATCACCAT CACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCATCA CCACCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCAC CACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCATCA CCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACC ACCACCACCATCACCACCACCATCACCATCACCACCACCACCATCACCAC CATCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCA C	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0301 a0002c0002t0001g0301	1	362	0.0028	650	c.391 others(665): Show c.391+618_391+619insCCACCACCACCACCACCACCATCACCACCA CCACCCTTCACCACCACCACCACCACCACCACCATCACCACCACCACCCT TCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACC ACCACCATCACCACCATCACCATCACCACCACCATCACCATCACCACCAC CACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATCA CCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATCACC ACCACCATCACCATCACCACCACCACCATCACCACCATCACCACCACCAC CACCACCACCATCACCACCACCACCATCACCACCACCACCATCACCACCA CCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACC ACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCAC CACCACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCA TCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACC ACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCACCAC CACCATCACCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19478121	G G	GGAGAGGG others(643): Show GGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGAGGGGGGAGGGGGG AGAGGGGGAGAGGGGGGAGGGGGGGAGAGGGGGAGAGGGGGAGAGGGGGA GAGGGGGGGAGGGGGAGAGGGGGGGAGGGGGAGAGGGGGGGAGGGGGGGA GGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGGG AGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAG GGGGGAGAGGGGGGGAGGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGGAG GGGGGAGAGGGGGAGAGAGGGGGGAGAGGGGGAGAGAGGGGAGAGGGGGA GAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGAGAGGGGGGAGGGGGGAGA GGGGGGAGGGGGGAGAGGGGGAGGGGGGAGAGGGGGAGAGGGGGGAGAGA GGGGGAGAGGGGGGAGAGAGGGGGAGAGGGGGGAGAGAGGGGGGAGGGGG GAGAGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGA GGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGG GGAGGGGGGAGAGAGGGGGAGAGAGGGGGAGAGAGGGGGGAGAGAGGGGG A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0112 a0002c0002t0001g0112	1	163	0.0061	650	c.525 others(667): Show c.525+8360_525+8361insTCCCCCTCTCTCCCCCCTCTCTCCCCCT CTCTCCCCCTCTCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCC TCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTC CCCCCTCCCCCCTCTCCCCTCTCCCCCCTCCCCCCTCTCTCCCCCCTCTC CCCCTCTCTCCCCCCTCTCCCCCTCTCTCCCCCCTCTCCCCCTCTCCCCC CTCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCTCCC CCCTCTCCCCCCTCCCCCCTCTCTCCCCCTCTCCCCTCTCTCCCCCTCTC CCCCCTCTCTCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCCTC TCCCCCCTCCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCT CCCCCCTCCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCCTCCCCCCCTCT CCCCCCTCCCCCCCTCTCCCCCCTCCCCCCCTCCCCCCCTCTCCCCCTCC CCCCCTCTCCCCCTCCCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCC CCCCCTCCCCCCTCTCCCCCTCTCCCCCCTCCCCCCTCCCCCTCTCCCCC CTCTCCCCCTCTCCCCCCTCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAPK11_chr22_50258713_50275380	50274865	C C	CTCCCAAC others(643): Show CTCCCAACCCCCCACCTCCCCCCAGCACCCCTCCCAACCCCCCACCTCCC CCCAGCACCCCTCCCAGCCCCCTCCACCTCCCGCAGCACCCCTCCCAGCC CCTTCCACCTCCCCCAGCACCCCTCCCAACCCACCTCCCCCCAGCACCCC TCCCAACCCCCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCC CCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCAG CCCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCC AGCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCCC CTCCACCTCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCAGTACC CCTCCCAGCCCCTTCCACCTCCCCCAGCACCCCTCCCAACCCCCCACCTC CCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCA GCCCCCTCCACCTCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCA GCACCACCCCCAGCCCCCTCCACCTCCCCCAGCATCCCTCCCAGCCCCCT CCACCTTTCCCAGCACCCTTCCCAGCCCCCTCCACCTCCCCACAGCTCCC A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02055.hp1 others(12): Show HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02630.hp1 HG02717.hp2 HG02896.hp2 HG03139.hp1 HG03225.hp1 HG03516.hp2 HG06807.hp1 NA18906.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0004 a0004c0006 a0001c0001 a0002c0004 a0004c0006	a0001c0001t0002 a0002c0004t0002 a0004c0006t0002 a0001c0001t0002 a0002c0004t0002 a0004c0006t0002	a0001c0001t0002g0006 a0001c0001t0002g0089 a0001c0001t0002g0094 others(2): Show a0001c0001t0002g0006 a0001c0001t0002g0089 a0001c0001t0002g0094 a0002c0004t0002g0069 a0004c0006t0002g0030	15	428	0.0351	650	c.-45 others(661): Show c.-4574_-4573insTGGGAGCTGTGGGGAGGTGGAGGGGGCTGGGAAG GGTGCTGGGAAAGGTGGAGGGGGCTGGGAGGGATGCTGGGGGAGGTGGAG GGGGCTGGGGGTGGTGCTGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTG GGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCT GGGAGGGGTGCTGGGGGGAGGTGGGGGGTTGGGAGGGGTGCTGGGGGAGG TGGAAGGGGCTGGGAGGGGTACTGGGGGAGGTGGAGGGGGCTGGGAGGGG TGCTGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGG GGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTG GGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGC TGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGG GAGGTGGGGGGTTGGGAGGGGTGCTGGGGGGAGGTGGGTTGGGAGGGGTG CTGGGGGAGGTGGAAGGGGCTGGGAGGGGTGCTGCGGGAGGTGGAGGGGG CTGGGAGGGGTGCTGGGGGGAGGTGGGGGGTTGGGAGGGGTGCTGGGGGG AGGTGGGGGGTTGGGA	MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding		4486		chr22	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(643): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTG CCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCA CATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCCTCACATGGGCTCC TGGCGAGTGTGCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGT GCCCCCTGTGCCTCACATAGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCT CCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCCTCACATGG GCTCCTGGCGAGTGTGCCCCCCACGCCTCCTCACATGGGCTCCTGGCGAG TGTGCCCCCTGTGCCTCACATAGGCTCCTGGCGAGTGTGCCCCCCCCGCG CCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCCTCACA TGGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTCCTCACATGGGCTCCTG GCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCC CCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACGCC T	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0056 a0056	a0056c0080 a0056c0080	a0056c0080t0003 a0056c0080t0003	a0056c0080t0003g0077 a0056c0080t0003g0077	1	292	0.0034	650	c.218 others(665): Show c.2189-97_2189-96insAGGCGTGGGGGGCACACTCGCCAGGAGCCC ATGTGAGGAGGCGCGGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGA GGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCCGGGGG GGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCG CCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCT ATGTGAGGCACAGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGTG GGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACAC TCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAG CCTATGTGAGGCACAGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGC GCGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGG CACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTCGCCAGGA GCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCAC GGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGTGGGGGGCACACT CGCCAGGAGCCCATGTGAGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(643): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTC CCGTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTC CCCTCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCC CCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCC TCCCCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTC CTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCC C	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0074 a0001c0002t0001g0074	1	140	0.0071	650	c.114 others(669): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCCTCTCCCCTCCCG TCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCC CCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC CTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCT CTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTC CCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(643): Show GTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTAGTGGTGGT GGCGGCGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGG TGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGCGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGATGGT GGTGGTGGTGGTGGTGGCGGCGATGGTGGTGGTGGTGATGGTGGCGGCGG TGGCAGTAGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGGCGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGT GATGGTGGTGGTGGTGGTGGTGGCGGCGATGGTGGTGGTGGTGATGGTGG CGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GGTGGTAGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTAG TGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTAGTGTT C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0336 a0001c0001t0050g0336	1	384	0.0026	650	c.160 others(667): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCAC CACCACCATCACCACCACCACCACTACCACCACCACCACCACCACCACCA TCACCACCACCACCACTACCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCAC CACCACCACTACTGCCACCGCCGCCACCATCACCACCACCACCATCGCCG CCACCACCACCACCACCACCATCACCACCATCACCACCATCACCACCACC ACCACCACCACCGCCACCACCACCACCACCACCATCACCACCACCACCAT CACCACCACCACCACTACTGCCACCGCCGCCACCATCACCACCACCACCA TCGCCGCCACCACCACCACCACCACCATCACCACCATCACCACCATCACC ACCATCACCACCACCACCACCACCACCGCCACCACCACCACCACCACCAT CACCACCACCACCATCACCACCACCACCACTACTGCCACCGCCGCCACCA TCACCACCACCACCATCGCCGCCACCACCACTACCACCACCATCACCACC ATCACCACCATCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYOM2_chr8_2040046_2150456	2085937	G G	GCCTCCCA others(643): Show GCCTCCCACTGTTGTGATCTCTGTGTGGCCCCCCACAGTCGTGATCTCTT TGTGGCACCCCACTGTCGTGATCTCTGCGTGGCCTCCCACTGTTGTGATC TCTGTGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCACCCCACTGTTGT GATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACTG TTGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCC ACTGTTGTGATCTCCGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCC CCCCACTGTTGTGATCTCCGCGTGGCCCCCCACTGTTGTGATCTCTGCGT GGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCT GCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACTGTTGTGAT CTCCGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACTGTTG TGATCTCCGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACT GTTGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCCGCGTGGCCCCC CACTGTTGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGC C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0045 a0045	a0045c0146 a0045c0146	a0045c0146t0001 a0045c0146t0001	a0045c0146t0001g0229 a0045c0146t0001g0229	1	403	0.0025	650	c.164 others(667): Show c.1644+549_1644+550insTCCCACTGTTGTGATCTCTGTGTGGCCC CCCACAGTCGTGATCTCTTTGTGGCACCCCACTGTCGTGATCTCTGCGTG GCCTCCCACTGTTGTGATCTCTGTGTGGCCCCCCACAGTCGTGATCTCTT TGTGGCACCCCACTGTTGTGATCTCTGCGTGGCCCCCCACTGTTGTGATC TCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACTGTTGT GATCTCTGCGTGGCCCCCCACTGTTGTGATCTCCGCGTGGCCCCCCACTG TTGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCCGCGTGGCCCCCC ACTGTTGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCC CCCCACTGTTGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGT GGCCCCCCACTGTTGTGATCTCCGCGTGGCCCCCCACTGTTGTGATCTCT GCGTGGCCCCCCACTGTTGTGATCTCCGCGTGGCCCCCCACTGTTGTGAT CTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACTGTTG TGATCTCCGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACT GTTGTGATCTCTGCGTGGCCCC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYT1_chr20_64159452_64247253	64175698	C C	CCTGTAGT others(643): Show CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTC CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTC CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTC CCTGTAGTTGTGCCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTC CCTGTAGTTGTGTCCATTTCCCCTCCTTGGCTTCTCCTGCAGCATCTTTC CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTC CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTC CCTGTAGTTGTGCCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTC CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTC CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTC CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTC CTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCT GTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCT G	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG03669.hp2 HG02129.hp2 HG03669.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0033 a0001c0004t0004g0034 a0001c0004t0004g0033 a0001c0004t0004g0034	2	223	0.0090	650	c.-99 others(669): Show c.-99+10959_-99+10960insCTGTAGTTGTGTCCATTTCCCCTCCC TGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCC TGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCC TGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGCCCATTTCCCCTCCC TGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCT TGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCC TGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCC TGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGCCCATTTCCCCTCCC TGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCC TGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCC TGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCC TGGCTTCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGG CTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGG CTTCTCCTGCAGCATCTTTCCCTG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22			chr20	TogoVar
NOL4L_chr20_32438059_32590333	32563187	G G	GGGAGGGT others(643): Show GGGAGGGTAGAAGGTAAGGAGGGTGGAGGGGAGGGAGGGAGAGTGGAAGG CAGGGAGGGTGGAGGGAGGGAGGGTGGGGAGGGAGGATGGAGGACAGGGA GGGTGGGGAGGGAGGGTGGAGGGAGAGTGGGGAGGGCAGGGAGGGTGGAG GGGGGGAAGTGGGGAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGGA GAGTGGGGAAGGTGGAGGGGAGGGAGGGAGGAAGGCGGGGGGGAGGGAGG GAGAGTGGGGAGGGTGGAGGGGAGGGAGGGTGGAGGGAGGGAGAGTGGGG AGGGTGGAGGGCAGGGAGGAGGGAGGAGGGGAGGGAGGGAGAGTGGGGAG GGTGGAGGGCAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGGAGAGT GGGGAGGGTGGAGGGCAGGGAGTGGGGAGGGAGGGACAGTGGGGAGGTTG GAGGGGAGGGAGGGTGGAGGGCAGGGAGGGTGGAGAGCAGGGAGGGTGGG GAGGGAGGGTGGAGGGAAGGAGAGTGGGGAGGGAGGGAGAGTGGAGAGGG AGGGTGGAGGGGAAGGAGGGTGGAGGGAGGGAGAGTGGGGAAGGTGGAGG GGAGGGAGGGTGGAGGGCAGGGATGGTGGAGGGAGGGAGAGTGGGGAGGG A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01123.hp1 HG01167.hp1 others(32): Show HG00323.hp2 HG01123.hp1 HG01167.hp1 HG01255.hp2 HG01261.hp2 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02135.hp1 HG02257.hp2 HG02451.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02738.hp2 HG02818.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03486.hp1 HG03579.hp1 HG03831.hp1 HG03831.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0018 a0001c0001t0023 a0001c0001t0029 a0001c0001t0031 a0001c0001t0037 a0001c0001t0047 a0001c0004t0034 a0001c0005t0002 a0001c0005t0007 a0001c0009t0036	a0001c0001t0001g0016 a0001c0001t0001g0069 a0001c0001t0001g0171 others(32): Show a0001c0001t0001g0016 a0001c0001t0001g0069 a0001c0001t0001g0171 a0001c0001t0001g0184 a0001c0001t0002g0157 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0071 a0001c0001t0003g0073 a0001c0001t0003g0127 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0004g0004 a0001c0001t0004g0009 a0001c0001t0004g0081 a0001c0001t0004g0129 a0001c0001t0006g0017 a0001c0001t0008g0044 a0001c0001t0008g0070 a0001c0001t0008g0088 a0001c0001t0008g0089 a0001c0001t0008g0126 a0001c0001t0018g0116 a0001c0001t0023g0075 a0001c0001t0029g0001 a0001c0001t0031g0019 a0001c0001t0037g0090 a0001c0001t0047g0041 a0001c0004t0034g0018 a0001c0005t0002g0039 a0001c0005t0007g0141 a0001c0009t0036g0021	35	196	0.1786	650	c.321 others(669): Show c.321+21382_321+21383insTCCCTCCCCACTCTCCCTCCCTCCAC CATCCCTGCCCTCCACCCTCCCTCCCCTCCACCTTCCCCACTCTCCCTCC CTCCACCCTCCTTCCCCTCCACCCTCCCTCTCCACTCTCCCTCCCTCCCC ACTCTCCTTCCCTCCACCCTCCCTCCCCACCCTCCCTGCTCTCCACCCTC CCTGCCCTCCACCCTCCCTCCCCTCCAACCTCCCCACTGTCCCTCCCTCC CCACTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCATCCTCCCTG CCCTCCACCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCTC CTCCCTCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCACCCTC CCTCCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCCCCGCCTTCCTCCC TCCCTCCCCTCCACCTTCCCCACTCTCCCTCCCTCCATCCTCCCTGCCCT CCACCCTCCCTCCCCACTTCCCCCCCTCCACCCTCCCTGCCCTCCCCACT CTCCCTCCACCCTCCCTCCCCACCCTCCCTGTCCTCCATCCTCCCTCCCC ACCCTCCCTCCCTCCACCCTCCCTGCCTTCCACTCTCCCTCCCTCCCCTC CACCCTCCTTACCTTCTACCCTCC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
NOL4L_chr20_32438059_32590333	32563187	G G	GGGAGGGT others(643): Show GGGAGGGTAGAAGGTAAGGAGGGTGGAGGGGAGGGAGGGAGAGTGGAAGG CAGGGAGGGTGGAGGGAGGGGGGGTGGGGAGGGAGGATGGAGGACAGGGA GGGTGGGGAGGGAGGGTGGAGGGAGAGTGGGGAGGGCAGGGAGGGTGGAG GGGGGGAAGTGGGGAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGGA GAGTGGGGAAGGTGGAGGGGAGGGAGGGAGGAAGGCGGGGGGGAGGGAGG GAGAGTGGGGAGGGTGGAGGGGAGGGAGGGTGGAGGGAGGGAGAGTGGGG AGGGTGGAGGGCAGGGAGGAGGGAGGAGGGGAGGGAGGGAGAGTGGGGAG GGTGGAGGGCAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGGAGAGT GGGGAGGGTGGAGGGCAGGGAGTGGGGAGGGAGGGACAGTGGGGAGGTTG GAGGGGAGGGAGGGTGGAGGGCAGGGAGGGTGGAGAGCAGGGAGGGTGGG GAGGGAGGGTGGAGGGAAGGAGAGTGGGGAGGGAGGGAGAGTGGAGAGGG AGGGTGGAGGGGAAGGAGGGTGGAGGGAGGGAGAGTGGGGAAGGTGGAGG GGAGGGAGGGTGGAGGGCAGGGATGGTGGAGGGAGGGAGAGTGGGGAGGG A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	196	0.0051	650	c.321 others(669): Show c.321+21382_321+21383insTCCCTCCCCACTCTCCCTCCCTCCAC CATCCCTGCCCTCCACCCTCCCTCCCCTCCACCTTCCCCACTCTCCCTCC CTCCACCCTCCTTCCCCTCCACCCTCCCTCTCCACTCTCCCTCCCTCCCC ACTCTCCTTCCCTCCACCCTCCCTCCCCACCCTCCCTGCTCTCCACCCTC CCTGCCCTCCACCCTCCCTCCCCTCCAACCTCCCCACTGTCCCTCCCTCC CCACTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCATCCTCCCTG CCCTCCACCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCTC CTCCCTCCTCCCTGCCCTCCACCCTCCCCACTCTCCCTCCCTCCACCCTC CCTCCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCCCCGCCTTCCTCCC TCCCTCCCCTCCACCTTCCCCACTCTCCCTCCCTCCATCCTCCCTGCCCT CCACCCTCCCTCCCCACTTCCCCCCCTCCACCCTCCCTGCCCTCCCCACT CTCCCTCCACCCTCCCTCCCCACCCTCCCTGTCCTCCATCCTCCCTCCCC ACCCCCCCTCCCTCCACCCTCCCTGCCTTCCACTCTCCCTCCCTCCCCTC CACCCTCCTTACCTTCTACCCTCC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
NOP14_chr4_2932936_2968406	2961219	T T	TAGTAACT others(643): Show TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATATATAGTAACTATATTAATATAGTTAGTATATATTAATATATAGT AACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAA TATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTA TATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATAT AGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAATATAGTTAGTATATTAATATATAGTAACTATATTA A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0064	1	422	0.0024	650	c.195 others(667): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTAATATAGTTACTATATATTAATATACTAACTATATTATTA ATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACT ATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATA TACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATA TTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATA GTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATA TTAATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTA ACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATT AATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTAC TATATATTAATATACTAACTATATTAATATAGTTACTATATATTAATATA CTAACTATATTATTAATATAGTTACTATATATTAATATATACTAACTATA TTAATATAGTTACTATATATTAATATAGTTACTATATATTAATATACTAA CTATATTATTAATATAGTTACT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(643): Show CCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCCTCCCCACAGAGCCCCCC AGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTC CGTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTC CCCACAGAGCCCCCAAGTCCCTCCCCACAGAGCCCCCCCAGTCCCTCCCC AGAGCCCCTCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAG CCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGCCC CCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCCCAGT CCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCT CCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCCA CAGAGCCCGAGTCCGTCCCCACAGAGCCCCCACTCCCTCCCCACAGAGCC CCCAAGTCCGTCCCCACAGGCCCCCAGTCCCTCCCCACAGAGCCCCCCAG TCCCCCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCT CCCCACAGAGCCCCCGAGTCTGTCCCCACAGGCCCCACTGGACACCAGGC T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0017 a0017	a0017c0044 a0017c0044	a0017c0044t0002 a0017c0044t0002	a0017c0044t0002g0036 a0017c0044t0002g0036	1	324	0.0031	650	c.140 others(667): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGG GGGCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTC TGTGGGGACGGACTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGG GAGGGACTGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGACTGGG GGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGACGGACTCGGGGGC TCTGTGGGGAGGGACTGGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCT GTGGGGAGGGACTGAGGGGCTCTGGGGAGGGACTGGGGGGGCTCTGTGGG GAGGGACTTGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGG GACTGGGGGGCTCTGTGGGGACGGACTCGGGGGCTCTGTGGGGAGGGACT GGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGGACTGGG GGGCTCTGTGGGGAGGGACTGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
OPCML_chr11_132409981_133537501	133082514	C C	CTCCCCTC others(643): Show CTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGACCATCCCCCTTC CCCTCCTCTCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCC TCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCACATCCCCCTTCCCCTCC TCCCCTCCTCATCCTCTCCTCCCCCTCGCACATCCCCCTTCCCCTCCTCC CCTCCTCATTCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCATCC TCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCT CCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCT CCCCCTCGCCCATCCCCCTTCCCCTCCTCTCCTCCTCATCCTCTCCTCCC CCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCT CGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGC CCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCA TCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCACCCATCC CCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCC T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02976.hp2 HG02965.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0025 a0001c0001t0023 a0001c0001t0025	a0001c0001t0023g0039 a0001c0001t0025g0054 a0001c0001t0023g0039 a0001c0001t0025g0054	2	68	0.0294	650	c.62- others(669): Show c.62-139505_62-139504insAGGGGGATGGGCGAGGGGGAGGAGAG GATGAGGAGGGGAGGAGGGGAAGGGGGATGGGTGAGGGGGAGGAGAGGAT GAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAG GAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAG GGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGG AGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGAGAGG AGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGG GGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGA AGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAAGGGGGATGGG CGAGGGGGAGGAGAGAATGAGGAGGGGAGGAGGGGAAGGGGGATGTGCGA GGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGTGCGAGGG GGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGA GGAGAGGATGAGGAGGAGAGGAGGGGAAGGGGGATGGTCGAGGGGGAGGA GAGGATGAGGAGGGGAGGAGGGGA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OR6J1_chr14_22625929_22649352	22637550	C C	CCTGCCCG others(643): Show CCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCGGCCGCCCAGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGATGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGATGTGGGGGGATCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0260 a0002c0002t0002g0260	1	362	0.0028	650	c.-27 others(667): Show c.-27-2713_-27-2712insAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGG GGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGGCTGATCCCCCCACATCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGATCCCCCCACATCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACTGGGCGGCCGGCCAGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OSGIN1_chr16_83948240_83971332	83950683	A A	ACACACGT others(643): Show ACACACGTACACACACATGCACACATGAGCACATGTGCACACATGCACAT ACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGC ACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACAC ATGCACATACATACTGGCACACGTACACACACATGCACACATGAGCACAT GTGCACACATGCACATACATACTGGCACACACGTACACACACATGCACAC ATGAGCACATGTGCACACATGCACATACATACTGGCACACACGTACATGC ACACATGAGCACATGTGCACACATGCACATACATACTGGCACACGTACAC ACACGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACAC ACGTACACACATGCATACATGAGCACATGTGCACACATGCACATACATAC TGGCACACGTACACGCACACATGAGCACATGTGCACACATGCCCATACAC ACTGGCACACACGTACACACACATGCACACATGAGCACATGTGCACACAT GCACATACACACTGGCACACACGTACACACACATGCACACATGAGCACAT GTGCACACATGCACATACATACCGGCACACGTACACACATGAACACATGT G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	350	0.0029	650	c.-27 others(661): Show c.-2720_-2719insCACACGTACACACACATGCACACATGAGCACATG TGCACACATGCACATACATACTGGCACACACGTACATGCACACATGAGCA CATGTGCACACATGCACATACATACTGGCACACACGTACATGCACACATG AGCACATGTGCACACATGCACATACATACTGGCACACGTACACACACATG CACACATGAGCACATGTGCACACATGCACATACATACTGGCACACACGTA CACACACATGCACACATGAGCACATGTGCACACATGCACATACATACTGG CACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATA CTGGCACACGTACACACACGCACACATGAGCACATGTGCACACATGCACA TACATACTGGCACACACGTACACACATGCATACATGAGCACATGTGCACA CATGCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCA CACATGCCCATACACACTGGCACACACGTACACACACATGCACACATGAG CACATGTGCACACATGCACATACACACTGGCACACACGTACACACACATG CACACATGAGCACATGTGCACACATGCACATACATACCGGCACACGTACA CACATGAACACATGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2556		chr16	TogoVar
PAK2_chr3_196734857_196837647	196811191	A A	ATTCCTTC others(643): Show ATTCCTTCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCC TCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTTCCC TACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTT CCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTC CCTTCCTTCCCTCCCTTCCTTCCTTCCCTCCTTCCCTTCCTTCCTTCCCT CCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCC CTCCCTTCCTTCCTTCCCTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCTTCCCTCCTTCCCTTCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCC TTCCTTCCCTCCCTTCCTTCCTTCCTTCCCTCCTTCCCTTCCTTCCTTCC CTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTT CCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTC C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	178	0.0056	650	c.773 others(665): Show c.773+554_773+555insCTCCCTTCCTTCCCTTCCCTACCCTCCCTT CCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTT CCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTC CTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCC CTCCCTTCCTTCCCTCCCTTCCTTCCTTCCCTCCTTCCCTTCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCTTCCCTCCTTCCCTCCCTTCCTTCCCTCCCTTCC TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCTTCCCTCCTTCCCTTC CTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT CCCTTCCTTCCCTCCCTTCCTTCCTTCCTTCCCTCCTTCCCTTCCTTCCT TCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTC CTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTC CCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TTCCTTCCTTCCTCCCTTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PIP5K1C_chr19_3625183_3705468	3649213	A A	ATGCCCAC others(643): Show ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0177 a0001c0002t0003g0177	1	332	0.0030	650	c.112 others(667): Show c.1128-506_1128-505insCGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649513	A A	ATGCCCAC others(643): Show ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0039 a0001c0030t0039	a0001c0030t0039g0327 a0001c0030t0039g0327	1	332	0.0030	650	c.112 others(667): Show c.1128-806_1128-805insCGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCATGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PLXNB2_chr22_50269979_50312646	50274865	C C	CTCCCAAC others(643): Show CTCCCAACCCCCCACCTCCCCCCAGCACCCCTCCCAACCCCCCACCTCCC CCCAGCACCCCTCCCAGCCCCCTCCACCTCCCGCAGCACCCCTCCCAGCC CCTTCCACCTCCCCCAGCACCCCTCCCAACCCACCTCCCCCCAGCACCCC TCCCAACCCCCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCC CCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCAG CCCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCC AGCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCCC CTCCACCTCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCAGTACC CCTCCCAGCCCCTTCCACCTCCCCCAGCACCCCTCCCAACCCCCCACCTC CCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCA GCCCCCTCCACCTCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCA GCACCACCCCCAGCCCCCTCCACCTCCCCCAGCATCCCTCCCAGCCCCCT CCACCTTTCCCAGCACCCTTCCCAGCCCCCTCCACCTCCCCACAGCTCCC A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02055.hp1 others(12): Show HG01884.hp1 HG01891.hp1 HG02055.hp1 HG02145.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02630.hp2 HG02717.hp2 HG02809.hp2 HG03139.hp1 HG03225.hp1 HG06807.hp2 NA18906.hp1 NA19043.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0030	a0001c0055 a0002c0010 a0002c0014 others(4): Show a0001c0055 a0002c0010 a0002c0014 a0002c0018 a0002c0076 a0004c0025 a0030c0073	a0001c0055t0003 a0002c0010t0003 a0002c0014t0003 others(5): Show a0001c0055t0003 a0002c0010t0003 a0002c0014t0003 a0002c0014t0008 a0002c0018t0003 a0002c0076t0003 a0004c0025t0003 a0030c0073t0008	a0001c0055t0003g0120 a0002c0010t0003g0244 a0002c0010t0003g0245 others(12): Show a0001c0055t0003g0120 a0002c0010t0003g0244 a0002c0010t0003g0245 a0002c0010t0003g0246 a0002c0010t0003g0278 a0002c0010t0003g0279 a0002c0014t0003g0036 a0002c0014t0003g0259 a0002c0014t0008g0135 a0002c0018t0003g0227 a0002c0018t0003g0229 a0002c0018t0003g0291 a0002c0076t0003g0282 a0004c0025t0003g0123 a0030c0073t0008g0134	15	302	0.0497	650	c.83 others(659): Show c.838_*839insTGGGAGCTGTGGGGAGGTGGAGGGGGCTGGGAAGGG TGCTGGGAAAGGTGGAGGGGGCTGGGAGGGATGCTGGGGGAGGTGGAGGG GGCTGGGGGTGGTGCTGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGG GGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGG GAGGGGTGCTGGGGGGAGGTGGGGGGTTGGGAGGGGTGCTGGGGGAGGTG GAAGGGGCTGGGAGGGGTACTGGGGGAGGTGGAGGGGGCTGGGAGGGGTG CTGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGG GCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGG GGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTG GGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGA GGTGGGGGGTTGGGAGGGGTGCTGGGGGGAGGTGGGTTGGGAGGGGTGCT GGGGGAGGTGGAAGGGGCTGGGAGGGGTGCTGCGGGAGGTGGAGGGGGCT GGGAGGGGTGCTGGGGGGAGGTGGGGGGTTGGGAGGGGTGCTGGGGGGAG GTGGGGGGTTGGGA	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		113		chr22	TogoVar
POU6F2_chr7_38972909_39473601	39040063	T T	TTATATAT others(643): Show TTATATATATATATATGTATATAATATATATATGTATTATGTGTGTGTGT GTATATATATGTGTGTATATATATATGTATATATATACACATATATATAC ATATATATATACACACATATATATACACACATATATATACACACATATAT ATACACACACACACACATAATATATATGTATTATATATATGTATATAATA TATATATATATATTATCAGCAGCTGTATTGACAAGATTTTCATTACTTCC TAAATGTCTGCACTGGCTTGCTTTATTTTTCCTTTTAAAGTTTATATATA TATAAATGTATATAATATATATACATATATATAATACATATATATGTATA TAATATATATATGTATTATGTGTGTGTGTGTATATATATGTGTATATATA TATGTATATATATATACACATATATATACACACATATATATACACACACA CACATAATACATATATATATTATATACATATATATGTATTATATATATGT ATATATATTATATACATATATATGTATTATATATATGTATATATATTATA TACATATATATGTATTATATATATGTATATATATTATATACATATATATG TATTATATATATGTATATATATTATATACATATATATGTATTATATATAT G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp1 HG01261.hp2 others(14): Show HG00738.hp1 HG01074.hp1 HG01261.hp2 HG01361.hp1 HG02293.hp2 HG03239.hp2 HG03491.hp1 HG03540.hp1 HG03704.hp2 HG03834.hp2 NA18954.hp1 NA18966.hp1 NA19005.hp2 NA19030.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003 a0002c0006 a0008c0013	a0001c0001t0002 a0001c0001t0009 a0001c0001t0025 others(6): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0025 a0001c0002t0001 a0001c0007t0012 a0002c0003t0001 a0002c0003t0012 a0002c0006t0001 a0008c0013t0006	a0001c0001t0002g0115 a0001c0001t0002g0119 a0001c0001t0002g0128 others(14): Show a0001c0001t0002g0115 a0001c0001t0002g0119 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0009g0123 a0001c0001t0025g0147 a0001c0002t0001g0016 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0129 a0001c0002t0001g0154 a0001c0007t0012g0118 a0002c0003t0001g0133 a0002c0003t0001g0146 a0002c0003t0012g0008 a0002c0006t0001g0134 a0008c0013t0006g0017	17	170	0.1000	650	c.106 others(669): Show c.106-45788_106-45787insATATATGTATATAATATATATATGTA TTATGTGTGTGTGTGTATATATATGTGTGTATATATATATGTATATATAT ACACATATATATACATATATATATACACACATATATATACACACATATAT ATACACACATATATATACACACACACACACATAATATATATGTATTATAT ATATGTATATAATATATATATATATATTATCAGCAGCTGTATTGACAAGA TTTTCATTACTTCCTAAATGTCTGCACTGGCTTGCTTTATTTTTCCTTTT AAAGTTTATATATATATAAATGTATATAATATATATACATATATATAATA CATATATATGTATATAATATATATATGTATTATGTGTGTGTGTGTATATA TATGTGTATATATATATGTATATATATATACACATATATATACACACATA TATATACACACACACACATAATACATATATATATTATATACATATATATG TATTATATATATGTATATATATTATATACATATATATGTATTATATATAT GTATATATATTATATACATATATATGTATTATATATATGTATATATATTA TATACATATATATGTATTATATATATGTATATATATTATATACATATATA TGTATTATATATATGTATATATAT	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN4_chr2_119754922_119989899	119843900	G G	GGACGGGG others(643): Show GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGCGGCTGGCTGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCCCTCCCGGAC AGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGG GGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGAGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGG CCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC A	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02165.hp1 NA19070.hp1 HG02080.hp2 HG02165.hp1 NA19070.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0013 a0005c0010t0001 a0001c0001t0013 a0005c0010t0001	a0001c0001t0013g0145 a0001c0001t0013g0146 a0005c0010t0001g0110 a0001c0001t0013g0145 a0001c0001t0013g0146 a0005c0010t0001g0110	3	252	0.0119	650	c.139 others(669): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCACCTCCCTC CCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGCGGCTGGCTGGGCGGGGGGCCGACATCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCCCTCCCGGA CAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGC CGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGG GGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGAG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CAGACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPRG_chr3_61556571_62302609	61699999	T T	TTTAGGTC others(643): Show TTTAGGTCAGTGATATCTGGGATTCTGGGTTCTTGGCAGTGGTGAGGGGG TCTGTGTGGTCCTCTTGGAATTGATCCTTATATAGTAAATGGGTGGCTCT GAAAATCTGAGGAGGTTTCATGCCCAAAGTCTCCTTATTCTTCTCTGTAC CCCCTAAGGATTGCCATATGCTGCTAAAACTTGGCTTTTCAACCAAGAAA TAAGTCAACTCTCACATTGCTAGAACGATGCTGTGGGATCCTCATATGAA CCTATATATGTGAGATTTTTCTCATAAAGGCAAAATTATTTCATCCAGAT CTGTTTTCTTCTTTGATACCTGCAAGTAAATAGATTGGGGGATAAAGCTG CAAATAAGCTGAGAATGTTCCACAGTAAGATTTCTCACAGTCCTGACTAG ATAGAAATGAATATTAAAGTAATTCAGCACAGTACTAAAAGCTTGTACCT AATTGCCTTTTCTTTATATTTAGCTTAACTTTAAAGGAAATTTATAACTA AATTGGGCTCAGTGAATTCCCTGGTTGCCTACTTTTATTACCCATTATAA CATATTTCTGTTTAATTTACCTCTTCCAGCCGTGATACTTCAGTGAAGAT ATGAGTATGTATTTGGAAGATGGTGAAGTGAACTTGACTGTTTTGGGAGG C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	94	0.0106	650	c.86- others(667): Show c.86-48877_86-48228dupTAGGTCAGTGATATCTGGGATTCTGGGT TCTTGGCAGTGGTGAGGGGGTCTGTGTGGTCCTCTTGGAATTGATCCTTA TATAGTAAATGGGTGGCTCTGAAAATCTGAGGAGGTTTCATGCCCAAAGT CTCCTTATTCTTCTCTGTACCCCCTAAGGATTGCCATATGCTGCTAAAAC TTGGCTTTTCAACCAAGAAATAAGTCAACTCTCACATTGCTAGAACGATG CTGTGGGATCCTCATATGAACCTATATATGTGAGATTTTTCTCATAAAGG CAAAATTATTTCATCCAGATCTGTTTTCTTCTTTGATACCTGCAAGTAAA TAGATTGGGGGATAAAGCTGCAAATAAGCTGAGAATGTTCCACAGTAAGA TTTCTCACAGTCCTGACTAGATAGAAATGAATATTAAAGTAATTCAGCAC AGTACTAAAAGCTTGTACCTAATTGCCTTTTCTTTATATTTAGCTTAACT TTAAAGGAAATTTATAACTAAATTGGGCTCAGTGAATTCCCTGGTTGCCT ACTTTTATTACCCATTATAACATATTTCTGTTTAATTTACCTCTTCCAGC CGTGATACTTCAGTGAAGATATGAGTATGTATTTGGAAGATGGTGAAGTG AACTTGACTGTTTTGGGAGGCT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PXDN_chr2_1626887_1749515	1706533	A A	AATCAGCT others(643): Show AATCAGCTCTAAACATCACCTGCCCCACTAATAATACAACCTGAGAGCAC GCTGCAGTGTTCACCAATCAGCTCTAAGCATCACCTGCCCCACTAATAAT ACAATCCGAGAGCACGCTTCAGTGTTCACCAATCAGCTCTAAACATCACC TGCCCCACTAATAATACAATCCGAGAGCACGCTTCACTGTTCACCAATCA GCTCTAAGCATCACCTGCCCCACTAATAATACAATCCGAGAGCACGCTTC ACTGTTCACCAATCAGCTCTAAGCATCACCTGCCCCACTAATAATACAAT CTGAGAGCACACTTCAGTGTTCACCAATCAGCTCTAAGCATCGCCTGCCC CACTAATAATACAATCTGAGAGCACGCTTCACTGTTCACCAATCAGCTCT AAGCATCACCTGCCCCACTAATAATACAATCCGAGAGCACGCTTCACTGT TCACCAATCAGCTCTAAGCATCACCTGCCCCACTAATAATACAATCCGAG AGCACGCTTCACTGTTCACCAATCAGCTCTAAGCATCACCTGCCCCACTA ATAATACAATCCGAGAGCACGCTTCACTGTTCACCAATCAGCTCTAAGCA TCACCTGCCCCACTAATAATACAATCCGAGAGCACGCTTCAGTGTTCAGC G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp1 HG02717.hp1 others(2): Show HG02257.hp2 HG02486.hp1 HG02717.hp1 HG02922.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0015 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0015 a0001c0002t0003 a0001c0004t0004 a0001c0006t0008	a0001c0001t0001g0312 a0001c0001t0015g0315 a0001c0002t0003g0313 others(2): Show a0001c0001t0001g0312 a0001c0001t0015g0315 a0001c0002t0003g0313 a0001c0004t0004g0310 a0001c0006t0008g0314	5	322	0.0155	650	c.201 others(669): Show c.201-13400_201-13399insCGCTGAACACTGAAGCGTGCTCTCGG ATTGTATTATTAGTGGGGCAGGTGATGCTTAGAGCTGATTGGTGAACAGT GAAGCGTGCTCTCGGATTGTATTATTAGTGGGGCAGGTGATGCTTAGAGC TGATTGGTGAACAGTGAAGCGTGCTCTCGGATTGTATTATTAGTGGGGCA GGTGATGCTTAGAGCTGATTGGTGAACAGTGAAGCGTGCTCTCGGATTGT ATTATTAGTGGGGCAGGTGATGCTTAGAGCTGATTGGTGAACAGTGAAGC GTGCTCTCAGATTGTATTATTAGTGGGGCAGGCGATGCTTAGAGCTGATT GGTGAACACTGAAGTGTGCTCTCAGATTGTATTATTAGTGGGGCAGGTGA TGCTTAGAGCTGATTGGTGAACAGTGAAGCGTGCTCTCGGATTGTATTAT TAGTGGGGCAGGTGATGCTTAGAGCTGATTGGTGAACAGTGAAGCGTGCT CTCGGATTGTATTATTAGTGGGGCAGGTGATGTTTAGAGCTGATTGGTGA ACACTGAAGCGTGCTCTCGGATTGTATTATTAGTGGGGCAGGTGATGCTT AGAGCTGATTGGTGAACACTGCAGCGTGCTCTCAGGTTGTATTATTAGTG GGGCAGGTGATGTTTAGAGCTGAT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RAB11FIP3_chr16_420649_528011	492388	A A	AGCCCTCC others(643): Show AGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0183 a0001c0002t0002g0183	1	295	0.0034	650	c.126 others(669): Show c.1265+3396_1265+3397insGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCC CAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBPMS_chr8_30379541_30577256	30388469	T T	TTATAGCT others(643): Show TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	304	0.0033	650	c.66+ others(665): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(643): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA G	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	276	0.0036	650	c.132 others(667): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RIGI_chr9_32450302_32531196	32528058	T T	TAAGATTT others(643): Show TAAGATTTCATTTTCGACTCAGCACACACTTCACCCCTCTAGGGCAGGCC ACGGCCTCGAAGTCCCTCCTTACGAGGAGCCCCTCTGCCCGGCCACCACC CCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACGGGCCAGGATGACA ATGGCGGCTTTGTGGAATAGAAAGGCGGGAAAGGTGGGGAAAAGATTGAG AAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTAGACATGGGAGACT TTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTT GATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGT CCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAA CAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTAAT CTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGC CTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCT CCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCA AGAATTATCAATAAAAAAATAAATTTAAAAAAAAAAAAAAAAAAAAAAAA A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG02572.hp1 others(4): Show HG02280.hp1 HG02559.hp1 HG02572.hp1 HG02647.hp2 HG02809.hp2 HG03041.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 others(4): Show a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0010g0283 a0001c0001t0010g0284	7	344	0.0204	650	c.-18 others(661): Show c.-1893_-1892insTTTTTTTTTTTTTTTTTTTTTTTTTAAATTTATT TTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGG TCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAG GTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGT GTCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATG CTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATC CATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGG GGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGGAATTTTTCTTAG TGCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACA CGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCGCCTTTCTA TTCCACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGG GCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCGTAAGG AGGGACTTCGAGGCCGTGGCCTGCCCTAGAGGGGTGAAGTGTGTGCTGAG TCGAAAATGAAATCTT	RIGI	ENSG00000107201.11	transcript	ENST00000379883.3	protein_coding		1863		chr9	TogoVar
RPH3AL_chr17_207389_357807	235985	C C	CTAACAAG others(643): Show CTAACAAGACGGGTCCCGGGTTCAAAGCTGGGGTCGGCGGAGGCTCTGCA GTAACAAGACGGGTCCCGGGTTCAAAGCTGGGGTTGGCGGAGGCTCCACA CTAACAAGACGGATCCCGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCGCA CTAACAAGATGGATCCCGGGTTCAAAGCTGGGGTCGGCCGAGGCTCTACA CTAACAAGACAGGTCCCGGGTTCAAAGCTGGGGTCGGCCGAGGCTCTGCA GTGACAAGAGGGATCCAGGGTTCAAATCTGGGGTCGGCCGAGGCTCTGCA GTGACAAGAGGGATCCAGGGTTCAAAGCTGGGGTCGACCGAGGCTCTACA CTAACAAGACGGATCCAGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCGCA GTAACAAGACGGGTCCAGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCGCA GTAACAAGACGGGTCCAGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCGCA GTAACAAGACGGGTCCCGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCGCA GTAACAAGACGGGTCCAGGGTTCAAAGCTGGGGTCGGCCAAGGCTCCACA CTAACGAGACGGGTCCATGGGTCAAAGCTGGGGTCGGCCAAGGCTCTGCA G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02723.hp1 HG01243.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0027 a0001c0001t0022 a0001c0001t0027	a0001c0001t0022g0071 a0001c0001t0027g0118 a0001c0001t0022g0071 a0001c0001t0027g0118	2	133	0.0150	650	c.613 others(669): Show c.613+11125_613+11126insCTGCAGAGCCTTGGCCGACCCCAGCT TTGACCCATGGACCCGTCTCGTTAGTGTGGAGCCTTGGCCGACCCCAGCT TTGAACCCTGGACCCGTCTTGTTACTGCGGAGCCTCCGCCGACCCCAGCT TTGAACCCGGGACCCGTCTTGTTACTGCGGAGCCTCCGCCGACCCCAGCT TTGAACCCTGGACCCGTCTTGTTACTGCGGAGCCTCCGCCGACCCCAGCT TTGAACCCTGGACCCGTCTTGTTACTGCGGAGCCTCCGCCGACCCCAGCT TTGAACCCTGGATCCGTCTTGTTAGTGTAGAGCCTCGGTCGACCCCAGCT TTGAACCCTGGATCCCTCTTGTCACTGCAGAGCCTCGGCCGACCCCAGAT TTGAACCCTGGATCCCTCTTGTCACTGCAGAGCCTCGGCCGACCCCAGCT TTGAACCCGGGACCTGTCTTGTTAGTGTAGAGCCTCGGCCGACCCCAGCT TTGAACCCGGGATCCATCTTGTTAGTGCGGAGCCTCCGCCGACCCCAGCT TTGAACCCGGGATCCGTCTTGTTAGTGTGGAGCCTCCGCCAACCCCAGCT TTGAACCCGGGACCCGTCTTGTTACTGCAGAGCCTCCGCCGACCCCAGCT TTGAACCCGGGACCCGTCTTGTTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	235985	C C	CTAACAAG others(643): Show CTAACAAGACGGGTCCCGGGTTCAAAGCTGGGGTCGGCGGAGGCTCTGCA GTAACAAGACGGGTCCCGGGTTCAAAGCTGGGGTTGGCGGAGGCTCCACA CTAACAAGACGGATCCCGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCGCA CTAACAAGATGGATCCCGGGTTCAAAGCTGGGGTCGGCCGAGGCTCTACA CTAACAAGACAGGTCCCGGGTTCAAAGCTGGGGTCGGCCGAGGCTCTGCA GTGACAAGAGGGATCCAGGGTTCAAATCTGGGGTCGGCCGAGGCTCTGCA GTGACAAGAGGGATCCAGGGTTCAAAGCTGGGGTCGGCCGAGGCTCTACA CTAACAAGACGGATCCAGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCGCA GTAACAAGACGGGTCCAGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCGCA GTAACAAGACGGGTCCAGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCGCA GTAACAAGACGGGTCCCGGGTTCAAAGCTGGGGTCGGCGGAGGCTCCGCA GTAACAAGACGGGTCCAGGGTTCAAAGCTGGGGTCGGCCGAGGCTCCACA CTAACGAGACGGGTCCATGGGTCAAAGCTGGGGTCGGCCAAGGCTCTGCA G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0070 a0001c0001t0017g0070	1	133	0.0075	650	c.613 others(669): Show c.613+11125_613+11126insCTGCAGAGCCTTGGCCGACCCCAGCT TTGACCCATGGACCCGTCTCGTTAGTGTGGAGCCTCGGCCGACCCCAGCT TTGAACCCTGGACCCGTCTTGTTACTGCGGAGCCTCCGCCGACCCCAGCT TTGAACCCGGGACCCGTCTTGTTACTGCGGAGCCTCCGCCGACCCCAGCT TTGAACCCTGGACCCGTCTTGTTACTGCGGAGCCTCCGCCGACCCCAGCT TTGAACCCTGGACCCGTCTTGTTACTGCGGAGCCTCCGCCGACCCCAGCT TTGAACCCTGGATCCGTCTTGTTAGTGTAGAGCCTCGGCCGACCCCAGCT TTGAACCCTGGATCCCTCTTGTCACTGCAGAGCCTCGGCCGACCCCAGAT TTGAACCCTGGATCCCTCTTGTCACTGCAGAGCCTCGGCCGACCCCAGCT TTGAACCCGGGACCTGTCTTGTTAGTGTAGAGCCTCGGCCGACCCCAGCT TTGAACCCGGGATCCATCTTGTTAGTGCGGAGCCTCCGCCGACCCCAGCT TTGAACCCGGGATCCGTCTTGTTAGTGTGGAGCCTCCGCCAACCCCAGCT TTGAACCCGGGACCCGTCTTGTTACTGCAGAGCCTCCGCCGACCCCAGCT TTGAACCCGGGACCCGTCTTGTTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	305043	A A	AGAGGGGA others(643): Show AGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGA GGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGG GAGACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGG ACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGAC AGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGG GCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGC GAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGG AGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGG GGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGG GACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGA CAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGACAG GGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGG CGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCG G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	133	0.0075	650	c.351 others(669): Show c.351+14376_351+14377insCCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCC CCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCCCGCCCTGTCCCCCT CCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCC CGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCG CCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCTCGCCC TGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTG TCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCC CCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCC CTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTC CCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTC GCCCTGTCCCCTCTCGCCCTGTCTCCCTCCCGCCCTGTCCCCCTCTCGCC CTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCT GTCCCCCTCCCGCCCTGTCCCCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SDCCAG8_chr1_243251041_243505091	243480604	A A	ATGGATGG others(643): Show ATGGATGGATGGATGGGTGGATGGATGGATGGGTGGGTGGGATGGATGGG TGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGGGGATGGAT GGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGAATGGGGGATG GATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGATGGATGGATG GGTGGGATGGATGGATGGATGGGATGGATGGGTGGGATGGATGGATGGGT GGGTGGGATGGATGGGTGGATGGATGGATGGGTGGGATGGATGGATGGGT GGGATGGATGGATGGATGGTTGGGATGGATGGATGGATGGGTGGGATGGA TGGATGGATGGGTGGATGGATGGATGGGTGGTATGGATGGATGGGTGTGA TGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGA TGGGTGGGATGGATGGATGGATGGATGGATGGGATGGATGAATGGGGGAT GGATGGATGGGGGATGGATGGATGGATGGGTGGGATGGATGGATGGGTGG GATGGATGGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGG GATGGATGGATGGATGGGTGGATGGATGGGTGGGATGGATGGATGGATGG G	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02293.hp1 HG01993.hp1 HG02293.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0153 a0002c0004t0001g0183 a0002c0004t0001g0153 a0002c0004t0001g0183	2	189	0.0106	650	c.198 others(669): Show c.1986-8391_1986-8390insATGGATGGATGGGTGGGTGGGATGGA TGGGTGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGGGGAT GGATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGAATGGGG GATGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGATGGATG GATGGGTGGGATGGATGGATGGATGGGATGGATGGGTGGGATGGATGGAT GGGTGGGTGGGATGGATGGGTGGATGGATGGATGGGTGGGATGGATGGAT GGGTGGGATGGATGGATGGATGGTTGGGATGGATGGATGGATGGGTGGGA TGGATGGATGGATGGGTGGATGGATGGATGGGTGGTATGGATGGATGGGT GTGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGA TGGATGGGTGGGATGGATGGATGGATGGATGGATGGGATGGATGAATGGG GGATGGATGGATGGGGGATGGATGGATGGATGGGTGGGATGGATGGATGG GTGGGATGGATGGATGGATGGATGGATGGGTGGGATGGATGGATGGATGG GTGGGATGGATGGATGGATGGGTGGATGGATGGGTGGGATGGATGGATGG ATGGGTGGATGGATGGATGGGTGG	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(643): Show GGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAGGGTGGGGA GGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGTGAGGGCAG AGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGGGAAGGGAG AGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGAAGGGGGAC GGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGGGAGTGGGA GGGGGAGGGGAGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGAGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGG GAGAGGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAA GGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGAG GAGGGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGA GGGGGAGGGGAGGGGAAGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAG GGAGGGGAGGAGGGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGG GGAGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGG A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	352	0.0028	650	c.12 others(661): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCC TTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCC TCCCCTCCCCCTCCCTCCTCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCC CCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCC CCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCC CTCCCTCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCTCCTCCCCTCCCCCTCCCACTCCCCCTCCCCTTCCCCTCCTCTGCCC TCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCT CACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCC TCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTC CCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCCCCTTCCTTC CTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(643): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGA GGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGG AGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCA GAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGG GAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAG GGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGA GGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGA GGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGG GAAGGGGGGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGG GAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGG AGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAG GAGGGAGGGGGAGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGG GAGGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGG A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02723.hp2 NA18972.hp1 others(2): Show HG02056.hp1 HG02723.hp2 NA18972.hp1 NA18973.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	352	0.0142	650	c.12 others(661): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCC CTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCC CCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCCCCC TTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCC TCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCAT CCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCC CTCCCCCTCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCC CGTCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCC TCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCC TCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCC CTCCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(643): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGG GGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGG GAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAG GAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAG GGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGG AGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGA GGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGG GAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAA GGGGGGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAG GGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGG GGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAG GGAGGGGGAGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAG GGGGGAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGAGA G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	650	c.12 others(661): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCC TCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCT TCCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCC CCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCC CCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCC CATCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCT CCCCTCCCCCTCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCT CCCCGTCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTC CCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCC TCCTCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCT CCCCTCCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCC TCCCTCCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(643): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGAG AACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAA CGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACG GGGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGG GAGAGAGCGGGGTGGGGGAACGGGGGTGGGAGCGGGGTGGGGGAACGGGG TGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTG GGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGG AGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGAGCGGGGTGGGAGAA C	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0225 a0001c0002t0002g0225	1	364	0.0028	650	c.157 others(669): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCAC CCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACC CCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACCCC GTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCCCGT TCCCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCTCACCCCCACC CCGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCACCCC GTTCTCCCACCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCACCC TGCTCTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCCCAC CCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTC CCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCACCCC GTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar

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