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
RPA3_chr7_7631518_7723607	7679065	T T	TATAAATA others(629): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01168.hp1 HG01169.hp2 others(1): Show HG00323.hp1 HG01168.hp1 HG01169.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0114 a0001c0001t0001g0160 a0001c0001t0003g0008 a0001c0001t0001g0114 a0001c0001t0001g0160 a0001c0001t0003g0008	4	215	0.0186	636	c.-75 others(655): Show c.-758+6764_-758+6765insCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATA TATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATCT ATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAAT ATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACT AAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATTTA TCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATATA AATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAA ATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATGT ATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAAT ATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAAT ATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(629): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCAC CCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCAT CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTAC CCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCAT CCATCCATCCACCCACCCACCCACCCACCCATCCATC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0257 a0002c0001t0001g0257	1	8	0.1250	636	c.937 others(653): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCCACCC ACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCC ACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCC ATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT CCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(629): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC ATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACAC ACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCAT CTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCAT CCATCCACCCACCCACCCACCCACCCATCCATCCATC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0333 a0001c0002t0001g0333	1	8	0.1250	636	c.937 others(653): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCAT CCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCT ATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCC ATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCC ACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(629): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC ATCCATCCACTCATCCATCCATCCATCTGTCCATCCACCCACCCACACAC ACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCAT CCATCTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCAT CCATCCATCCATCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0170 a0001c0008t0001g0170	1	8	0.1250	636	c.937 others(653): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCAT CCACTCATCCATCCATCCATCTGTCCATCCACCCACCCACACACACACCT ATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCCATCT ACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCC ATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCAT CCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(629): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCAC ACACACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCAT CCATCTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCAC CCATCCATCCATCCACCCACCCACCCACCCACCCACC	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA19030.hp2 HG03486.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0265 a0001c0002t0002g0266	2	9	0.2222	636	c.937 others(653): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACAC ACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCT ACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCACCCATCC ATCCATCCACCCACCCACCCACCCACCCACCCATCCATCCATCCATCCAT CCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(629): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAT CCGTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCAT CCATCCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCC ACCCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACAC CCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCTGTCCATCCACCCACCCAC ACACACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCAT CCATCCATCTACCCATCCACCCACCCACCCACACACCTATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCAT CCATCCATCCATCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG06807.hp1 HG02559.hp1 HG06807.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0173 a0001c0008t0001g0177 a0001c0008t0001g0173 a0001c0008t0001g0177	2	9	0.2222	636	c.937 others(653): Show c.937-1228_937-1227insCCATCCATCCATCCATCCACTCATCCAT CCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCC ATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCC ACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCAT CCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCC ATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCTGTCCATCCACCCACCCACACACAC ACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCC ATCTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCC ATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCAT CCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(629): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAT CCGTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCAC ACACACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCC ATCCATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCAT CTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCCATCCACCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0046 a0001c0006t0001g0046	1	8	0.1250	636	c.937 others(653): Show c.937-1228_937-1227insCCATCCATCCATCCATCCACTCATCCAT CCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCC ATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACAC ACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCAT CCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCC ATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCC ATCCACCCACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCAT CCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(629): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCACCCAGCCTTA TTTTATATTAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGTA ATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGC TGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATAT TAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCGG GAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTG AGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTC CGTCTCAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGTTTT TTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTCAAT CTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGGCT CAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGGCTA ATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGG TCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp2 HG03453.hp1 others(3): Show HG01109.hp2 HG02109.hp2 HG03453.hp1 HG03486.hp2 NA18522.hp2 NA21309.hp1	a0003 a0006 a0003 a0006	a0003c0003 a0006c0005 a0003c0003 a0006c0005	a0003c0003t0001 a0003c0003t0004 a0003c0003t0005 others(1): Show a0003c0003t0001 a0003c0003t0004 a0003c0003t0005 a0006c0005t0003	a0003c0003t0001g0245 a0003c0003t0001g0284 a0003c0003t0001g0342 others(3): Show a0003c0003t0001g0245 a0003c0003t0001g0284 a0003c0003t0001g0342 a0003c0003t0004g0405 a0003c0003t0005g0139 a0006c0005t0003g0283	6	188	0.0319	636	c.684 others(651): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGAT CTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCT CAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGCTA ATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTG GCCTCCAGCTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGT GCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTTAA TATAAAATAAGGCTGGGTGCAGTGACTCCCGCCTGTAATCCTAGCACTTG GGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(629): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCACCCAGCCTTA TTTTATATTAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGTA ATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGC TGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATAT TAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCGG GAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTG AGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTC CGTCTCAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGTTTT TTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTCAAT CTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGGCT CAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGGCTA ATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGG TCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG01070.hp1 others(77): Show HG00423.hp1 HG00544.hp1 HG01070.hp1 HG01192.hp2 HG01258.hp1 HG01346.hp1 HG01884.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02257.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03927.hp1 HG04115.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18940.hp2 NA18944.hp2 NA18947.hp2 NA18948.hp2 NA18955.hp1 NA18964.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18984.hp2 NA18985.hp2 NA18993.hp2 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19004.hp2 NA19012.hp1 NA19056.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19079.hp1 NA19081.hp1 NA19083.hp1 NA19085.hp1 NA19088.hp1 NA19090.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0015 a0016	a0001c0001 a0001c0004 a0001c0029 others(14): Show a0001c0001 a0001c0004 a0001c0029 a0002c0002 a0002c0028 a0003c0003 a0003c0010 a0004c0009 a0004c0012 a0004c0014 a0005c0007 a0005c0013 a0006c0005 a0006c0026 a0007c0008 a0015c0027 a0016c0025	a0001c0001t0001 a0001c0001t0002 a0001c0004t0004 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0004 a0001c0029t0001 a0002c0002t0001 a0002c0002t0004 a0002c0028t0003 a0003c0003t0001 a0003c0003t0002 a0003c0003t0006 a0003c0010t0001 a0004c0009t0003 a0004c0012t0003 a0004c0014t0003 a0005c0007t0001 a0005c0007t0002 a0005c0013t0001 a0006c0005t0003 a0006c0026t0003 a0007c0008t0002 a0015c0027t0001 a0016c0025t0001	a0001c0001t0001g0023 a0001c0001t0001g0218 a0001c0001t0001g0219 others(70): Show a0001c0001t0001g0023 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0273 a0001c0001t0001g0289 a0001c0001t0001g0319 a0001c0001t0001g0322 a0001c0001t0001g0361 a0001c0001t0002g0088 a0001c0004t0004g0404 a0001c0029t0001g0112 a0002c0002t0001g0286 a0002c0002t0004g0403 a0002c0028t0003g0127 a0003c0003t0001g0006 a0003c0003t0001g0020 a0003c0003t0001g0029 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0135 a0003c0003t0001g0165 a0003c0003t0001g0166 a0003c0003t0001g0185 a0003c0003t0001g0188 a0003c0003t0001g0204 a0003c0003t0001g0212 a0003c0003t0001g0214 a0003c0003t0001g0217 a0003c0003t0001g0222 a0003c0003t0001g0227 a0003c0003t0001g0232 a0003c0003t0001g0237 a0003c0003t0001g0281 a0003c0003t0001g0302 a0003c0003t0001g0304 a0003c0003t0001g0305 a0003c0003t0001g0328 a0003c0003t0001g0339 a0003c0003t0001g0343 a0003c0003t0001g0351 a0003c0003t0001g0366 a0003c0003t0001g0386 a0003c0003t0001g0395 a0003c0003t0001g0411 a0003c0003t0002g0069 a0003c0003t0002g0076 a0003c0003t0002g0077 a0003c0003t0006g0230 a0003c0003t0006g0231 a0003c0003t0006g0307 a0003c0010t0001g0011 a0003c0010t0001g0107 a0003c0010t0001g0118 a0003c0010t0001g0120 a0004c0009t0003g0335 a0004c0012t0003g0333 a0004c0012t0003g0336 a0004c0012t0003g0393 a0004c0014t0003g0108 a0004c0014t0003g0110 a0004c0014t0003g0128 a0005c0007t0001g0186 a0005c0007t0001g0350 a0005c0007t0002g0073 a0005c0013t0001g0010 a0005c0013t0001g0130 a0006c0005t0003g0136 a0006c0005t0003g0353 a0006c0026t0003g0109 a0007c0008t0002g0080 a0015c0027t0001g0114 a0016c0025t0001g0119	80	262	0.3053	636	c.684 others(651): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGAT CTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCT CAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGCTA ATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTG GCCTCCAGCTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGT GCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTTAA TATAAAATAAGGCTGGGTGCAGTGACTCCCGCCTGTAATCCTAGCACTTG GGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(629): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCACCCAGCCTTA TTTTATATTAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGTA ATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGT TGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATAT TAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCGG GAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTG AGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTC CGTCTCAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGTTTT TTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTCAAT CTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGGCT CAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGGCTA ATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGG TCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp2 HG02280.hp1 HG02451.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0229 a0003c0003t0001g0198 a0001c0001t0001g0229 a0003c0003t0001g0198	2	184	0.0109	636	c.684 others(651): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGAT CTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCT CAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGCTA ATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTG GCCTCCAACTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGT GCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTTAA TATAAAATAAGGCTGGGTGCAGTGACTCCCGCCTGTAATCCTAGCACTTG GGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(629): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCACCCAGCCTTA TTTTATATTAAAAAAGAAAATTGGGACGGGTGCGGTGGCTCACTCCTGTA ATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGC TGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATAT TAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCGG GAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTG AGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTC CGTCTCAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGTTTT TTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTCAAT CTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGGCT CAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGGCTA ATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGG TCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0282 a0003c0003t0001g0282	1	183	0.0055	636	c.684 others(651): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGAT CTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCT CAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGCTA ATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTG GCCTCCAGCTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGT GCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTCTTTTTTAA TATAAAATAAGGCTGGGTGCAGTGACTCCCGCCTGTAATCCTAGCACTTG GGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(629): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCGCCCAGCCTTA TTTTATATTAAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGT AATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAG TTGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATA TTAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCG GGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGT GAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACT CCGTCTCAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGTTTT TTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTCAAT CTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGGCT CAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGGCTA ATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGG TCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0274 a0001c0001t0014g0274	1	183	0.0055	636	c.684 others(651): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT GAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGATC TCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTC AGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGCTAA TTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGG CCTCCAACTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTG CCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTTTAA TATAAAATAAGGCTGGGCGCAGTGACTCCCGCCTGTAATCCTAGCACTTG GGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(629): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCGCCCAGCCTTA TTTTATATTAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGTA ATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGT TGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATAT TAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCGG GAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTG AGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTC CGTCTCAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGTTTT TTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTCAAT CTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGGCT CAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGGCTA ATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGG TCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0003 a0004c0009t0003	a0004c0009t0003g0134 a0004c0009t0003g0134	1	183	0.0055	636	c.684 others(651): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGAT CTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCT CAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGCTA ATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTG GCCTCCAACTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGT GCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTTAA TATAAAATAAGGCTGGGCGCAGTGACTCCCGCCTGTAATCCTAGCACTTG GGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(629): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCC TCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCACCCCTTCCCCCT CCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCCCTCCCC CTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTC CCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCC TTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCCCACCCG TTCCCCCTCCCCCTCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0045 a0001c0001t0033g0045	1	40	0.0250	636	c.77- others(653): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTC CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCACCCCTT CCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCC CTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCCC CCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCC CCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCC CACCCGTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTTTCCCTTCCCCTCC CCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC45A4_chr8_141202174_141313288	141203481	A A	AGAGACCG others(629): Show AGAGACCGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACCGGCGTT GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGCGAGAGAGGAGGCGGGGGTT GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGAG AGTGAGGGGAGAGAGAGACCGTGGACGAGAGGGAGAGGGAGACCGTGGAG AGAGAGAGAGAGGGAGAGAGGGAGAGAGAGAGAGAGGGAGAGGGAGAGAG GGAGAGAGGGAGAGAGAGAGAGAGGGAGAGAGAGACCGTGGAGAGAGGGA GAGGGAGACGTGGAGAGAGACGAGAGAGAGAGGGAGAGAGAGAGAGAGGG AGAGAGGGAGAGGAGGGAGAGAGGGAGAGGGAGAGAGGGAGAGAGGGAGA GAGGAGAGAGGAGAGAGGGGAGAGGAGAGAGGGAGAGAGAGAGAGAGGGA GAGAGGGAGAGAGGGAGAGAGGGAGAGGGAGAGAGGGAGAGTGGGAGAGA GGGAGAGAGGAGAGAGGGGAGAGAGAGGGGAGAGAGGGAGAGAGGGAGAG AGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGAGAGAGGGAGCCCGC GGGCCGCGAGTGCGACGAGAGGGAGAGAGGAGAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0155 a0002c0001t0001g0155	1	90	0.0111	636	c.80 others(647): Show c.8090_*8091insCCTCTCTCCTCTCTCCCTCTCGTCGCACTCGCGG CCCGCGGGCTCCCTCTCTCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTC CCTCTCTCCCTCTCTCCCTCTCTCCCCTCTCTCTCCCCTCTCTCCTCTCT CCCTCTCTCCCACTCTCCCTCTCTCCCTCTCCCTCTCTCCCTCTCTCCCT CTCTCCCTCTCTCTCTCTCTCCCTCTCTCCTCTCCCCTCTCTCCTCTCTC CTCTCTCCCTCTCTCCCTCTCTCCCTCTCCCTCTCTCCCTCCTCTCCCTC TCTCCCTCTCTCTCTCTCTCCCTCTCTCTCTCGTCTCTCTCCACGTCTCC CTCTCCCTCTCTCCACGGTCTCTCTCTCCCTCTCTCTCTCTCTCCCTCTC TCCCTCTCTCCCTCTCCCTCTCTCTCTCTCTCCCTCTCTCCCTCTCTCTC TCTCTCCACGGTCTCCCTCTCCCTCTCGTCCACGGTCTCTCTCTCCCCTC ACTCTCTCTCTCCCTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCCAACCCCCGCCTCCTCTCTCGCTCTCTCTCTCTCTCTCTCTCTCTCTC TCCAACGCCGGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCACGGTC TC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3692		chr8	TogoVar
SLC6A18_chr5_1220381_1251189	1238245	G G	GTCAGGTT others(629): Show GTCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAG TGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCC TCAGGAAAGAGGTCAGGTTTGGAGTGAGCTTGGGGCCTCAGGAAAGAGGT CAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGT GAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGAC TCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACA TCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGT GGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGAGGA CTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGG TCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGT GAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGAC TCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGT CAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01358.hp1 HG01346.hp1 HG01358.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0011 a0001c0009t0002g0133 a0001c0009t0002g0011 a0001c0009t0002g0133	2	438	0.0046	636	c.732 others(651): Show c.732+243_732+244insGGCCTCAGGAAAGAGGTCAGGTTTGGAGTG GGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCTTGGGGCCTC AGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATC AGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGG GCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGAGGACT CAGGAAAGACATCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTC AGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTG GGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCT CAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTC AGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGG GCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTC AGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATC AGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGG GCCTGG	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(629): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGG GGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGG AGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGG AGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGG GGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGA GGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAG GGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGG AGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAG GGGGGAAGGGGAAGGGGGAGGAGGGGGGGGAGGAGGGAGGGGGAGGGGAG GGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGG GGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGGAGGG GGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGGGG AGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	135	0.0074	636	c.12 others(647): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCT TCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCT CCCCTCCCCTCCCCCTCCCTCCTCCCCCCCCTCCTCCCCCTTCCCCTTCC CCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCT CCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCC TCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCC CCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTT CCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCC CCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCA CCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCC TCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT CC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMYD3_chr1_245744347_246512279	246243972	G G	GGCTGAAG others(629): Show GGCTGAAGCAGGAGGATCACCTGAGGCTAGGAGTTTGAAGCCACGGTCTG CTATGATCATACCACAGTATTCTAAAGCCCAGGCAACACAGTGAAACCCC ACTGCTTACCCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAGCTGGTCTCAGTGGCTCATGCCTGTAATACTTGCATATCTTGGGATGG CAAGGAGGGAGCATCACTTGAGCCCAGGAGTTCAAAACCAGCCTGGGCAA CACACTGAGATTCCATCTCTCATTAAAATATTAGCTGGGTGCGATGGTGC ATGCCTGCAGTCCCAGCTACTCCAGAGTCTGAGGTGGCAGGATTGCTTGA GCCCAGGAAGTCAAGGCTACAGTGAGCTGTGTTATTGCCACTGCACTCCA GCCAAGGTGACCACAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAGGCC AACCAATTTCCCAATCTAATGTGAAATATAAACTGAAGTGTAGCCTGTCA TTTTTAAAAACTTCATACTCTATACATGCATACTTTTTGGTAATCAAATT TATAACGTGTGTCTAGGCAACCACACATTCAACAGACTACCACGACAGAT TTTGCCTAGCACTGTGGTTTAAGAGAAGGATAACTAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp2 HG02257.hp1 HG02451.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0135 a0002c0007t0001g0140 a0002c0007t0001g0135 a0002c0007t0001g0140	2	99	0.0202	636	c.531 others(655): Show c.531+83228_531+83229insATAGTTATCCTTCTCTTAAACCACAG TGCTAGGCAAAATCTGTCGTGGTAGTCTGTTGAATGTGTGGTTGCCTAGA CACACGTTATAAATTTGATTACCAAAAAGTATGCATGTATAGAGTATGAA GTTTTTAAAAATGACAGGCTACACTTCAGTTTATATTTCACATTAGATTG GGAAATTGGTTGGCCTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTGTG GTCACCTTGGCTGGAGTGCAGTGGCAATAACACAGCTCACTGTAGCCTTG ACTTCCTGGGCTCAAGCAATCCTGCCACCTCAGACTCTGGAGTAGCTGGG ACTGCAGGCATGCACCATCGCACCCAGCTAATATTTTAATGAGAGATGGA ATCTCAGTGTGTTGCCCAGGCTGGTTTTGAACTCCTGGGCTCAAGTGATG CTCCCTCCTTGCCATCCCAAGATATGCAAGTATTACAGGCATGAGCCACT GAGACCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GGGTAAGCAGTGGGGTTTCACTGTGTTGCCTGGGCTTTAGAATACTGTGG TATGATCATAGCAGACCGTGGCTTCAAACTCCTAGCCTCAGGTGATCCTC CTGCTTCAGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(629): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGC GTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC GGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCA GGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCGACATCGT GTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAGTGCTGGGATTACAG GCATGAGTCACTGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGAC AGGTCTCGTTCTGTTGCCAAGGCTGGCACGCAGTTGT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0011 a0001c0008t0001g0011	1	177	0.0056	636	c.245 others(653): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGG AGTTCGAGACCAGCGTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAA TACAAAAATTAGCCGGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTC AGGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAG TGAGCCGACATCGTGTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTC CATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAG TGCTGGGATTACAGGCATGAGTCACTGTGCCTGGCTTTTTTTTTTTTTTT TTTTTTTTTGAGACAGGTCTCGTTCTGTTGCCAAGGCTGGCACGCAGTTG TGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SRXN1_chr20_641615_658200	642198	G G	GGGGGGGG others(629): Show GGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCG GGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGG GGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCC AGCGGGGATGGGGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGGGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGG GCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	415	0.0024	636	c.65 others(647): Show c.6515_*6516insAGGCAACTCCACCCCTGCTGGGCCCCCCCCCACA GGCAACTCCACCCCCGCTGGGCCCCCCCACAGGCAACTCCACCCCCGCTG GGCCCCCCACCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCCAGGCAACCCCATCCCC GCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACAG GCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGG CACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGG CCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCAC CCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCC CC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4416		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(629): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCC AGCGGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGC CCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	80	0.0125	636	c.64 others(647): Show c.6483_*6484insCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCA GGCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCC GCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCCAGG CAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTG GGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(629): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGGTGGAGTTGCCTGGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGGTGGAG TTGCCTGTGGTGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGC CCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTT GCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	80	0.0125	636	c.64 others(647): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCA GGCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCACCACAGG CAACTCCACCCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGG GCCCCCCCCCAGGCAACTCCACCCCCCGCTGGGCCCCCCCCCACAGGCAA CTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCC CCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(629): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGC CCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGGCCCAGCAGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	80	0.0125	636	c.64 others(647): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCACAGGCAAC TCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCC CCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(629): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGC CCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	80	0.0125	636	c.64 others(647): Show c.6483_*6484insCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCA GGCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACT CCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCC CCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(629): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCC AGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCT GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCC CAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGGCCCAGCAGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0040 a0001c0001t0005g0040	1	80	0.0125	636	c.64 others(647): Show c.6483_*6484insCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCA GGCAACTCCACCCCTGCTGGGCCCCCCCCCCACAGGCAACTCCACCCCCG CTGGGCCCCCCACCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGG CAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCATCCCC GCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACAG GCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGG CACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGG CCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(629): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGG GAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGGCCC AGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGG AGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	80	0.0125	636	c.64 others(647): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACT CCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCC GCTGGGCCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGG CAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTG GGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACCC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(629): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGTGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCC AGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCT GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCC CAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTG CCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	80	0.0125	636	c.64 others(647): Show c.6483_*6484insCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCC AGGCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCG CTGGGCCCCCCACCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGG CAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCATCCCC GCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACAG GCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGG CACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGG CCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCC CACCCCCACTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(629): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGG GGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGG GAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGA GTTGCCTGGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCC CAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGC CCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGGCCCAGCAGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	80	0.0125	636	c.64 others(647): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCG CTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGG GCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCC ACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(629): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGG GGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGG GGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGTGGAGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGA GTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCC AGCGGGGGTGGGGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGG AGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	80	0.0125	636	c.64 others(647): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCACAGGCAACTC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACCCCACCCCC GCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGG GCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACT CCACCCCCGCTGGGCCTCCACCCCCCAGGCAACTCCACCCCCGCTGGGCC TCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCC ACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
TBC1D10C_chr11_67399083_67415089	67403714	G G	GGAACTGG others(629): Show GGAACTGGCTTCCTGCTCTGGGACTCAGTTTCCCCCGTGCAGCAGGGGCT GGGCAAGTCCAAGGAGAGGTGGGGGTACCCACCTGTGACATGAAGGCCTC CTCCTGCAGCTGCGCGGGGGGGATGGCTCGAAGGGCTCCCAGTGTCTCCA GGAGGCCAGGGCAGGCCCCTCGCTGCTCTGCAGTGCCCAGCGCCAGGCGC ACCAGTGTCAGCCCCACACGGAACAGTACTCTGGCACCTGCAGGCCGGGG GCTTATTCACTGGGAGGCCGGCCCTGCCCCTCCACAGTTCTGCACCCAAA CCTGCCCTCAGCCATATGCCTCCCACTCTCCTGCAGCTCTGCCCTCCCCG GTTCAGGAACAATGACAGAGGGTGGAGTTGCATTTCGGGTAACACAGGCC GCTGTACTGGCCAAGTTAGCCTCAAGAGCCACAGATGCTTTGGGGAAGAG TTACTATCTTGTGAATTTGGTTACTGTCGCCTCCCATCCCCACCCCCGCC AAAATGAAGGTCTTGATCACTTGATGCTCAGATGCCATCCATATCTGGAG CCAGCAAGCACCCAGCAGGTGCCTGTGGGCTCCGGGGAGGAGCACCTCCT ACCCTCCCTGAGCCAGTCAGGCCTCCATGTGCTATGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	636	c.-48 others(645): Show c.-489_-488insGAACTGGCTTCCTGCTCTGGGACTCAGTTTCCCCCG TGCAGCAGGGGCTGGGCAAGTCCAAGGAGAGGTGGGGGTACCCACCTGTG ACATGAAGGCCTCCTCCTGCAGCTGCGCGGGGGGGATGGCTCGAAGGGCT CCCAGTGTCTCCAGGAGGCCAGGGCAGGCCCCTCGCTGCTCTGCAGTGCC CAGCGCCAGGCGCACCAGTGTCAGCCCCACACGGAACAGTACTCTGGCAC CTGCAGGCCGGGGGCTTATTCACTGGGAGGCCGGCCCTGCCCCTCCACAG TTCTGCACCCAAACCTGCCCTCAGCCATATGCCTCCCACTCTCCTGCAGC TCTGCCCTCCCCGGTTCAGGAACAATGACAGAGGGTGGAGTTGCATTTCG GGTAACACAGGCCGCTGTACTGGCCAAGTTAGCCTCAAGAGCCACAGATG CTTTGGGGAAGAGTTACTATCTTGTGAATTTGGTTACTGTCGCCTCCCAT CCCCACCCCCGCCAAAATGAAGGTCTTGATCACTTGATGCTCAGATGCCA TCCATATCTGGAGCCAGCAAGCACCCAGCAGGTGCCTGTGGGCTCCGGGG AGGAGCACCTCCTACCCTCCCTGAGCCAGTCAGGCCTCCATGTGCTATGA	TBC1D10C	ENSG00000175463.12	transcript	ENST00000542590.2	protein_coding		368		chr11	TogoVar
TBC1D22A_chr22_46757650_47180693	47128195	T T	TCCCTCCA others(629): Show TCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCTCC CCTCTGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCC ACCCATCCCTCCCTCCGCCCTACCCATCCTCCTCCGCCCCACCCACCCCC CCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCC ACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCCACCCATCC CTCCTCCCCTCACCCATCCCTCCATCCTCCCTCCACCCCACCCATCCTCC CTCCACCCCACCCATCCTCCCCTCTGCCCCACCCATCCCCCCTCCCCTCA CCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCTACCCATCCT CCTCCGCCCCACCCACCCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTC ACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCCACCCATCC CTCCTCCGCCCCACCCACCACCCCTCCGCCCCACCCATCCCCCCTCCCCT CACCCATCCCTCCATCCTCCCTCCACCCCACCCATTCTCCCCTCCACCCC ACCCATCCCCCATCCTCCCTCCACCCCACCCATCCTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02074.hp1 HG00642.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0071 a0001c0001t0003g0063 a0001c0001t0001g0071 a0001c0001t0003g0063	2	62	0.0323	636	c.142 others(657): Show c.1425+16598_1425+16599insACCCCACCCATCCCCCATCCTCCC TCCACCCCACCCATCCTCCCCTCTGCCCCACCCATCCCCCCTCCCCTCAC CCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCTACCCATCCTC CTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTCAC CCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCCACCCATCCCT CCCTCCGCCCCACCCATCCCTCCTCCCCTCACCCATCCCTCCATCCTCCC TCCACCCCACCCATCCTCCCTCCACCCCACCCATCCTCCCCTCTGCCCCA CCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTC CCTCCGCCCTACCCATCCTCCTCCGCCCCACCCACCCCCCCCTCCGCCCC ACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCT CCCTCCGCCCCACCCATCCCTCCTCCGCCCCACCCACCACCCCTCCGCCC CACCCATCCCCCCTCCCCTCACCCATCCCTCCATCCTCCCTCCACCCCAC CCATTCTCCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCC ATCCTCCCCTCC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D2_chr9_98194011_98260649	98257542	T T	TTTTTTTG others(629): Show TTTTTTTGATACAGAGTCTCGCTCTGTCGCCCAAGCTGGAGTGCAGTGGC ATGCTCTCCAATTCCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT TACATACACGCGTCACCATACCCAGCTAATTTTTGTATTTTTAGTTGAGA CGGGGTTTCACCATGTTGGCTAGGATGGTCTGGATCTCCTGACCTTGTGA TCCACCGGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACA GTGCCTGGCCCCATTCCTGATTTTTAAAACCTCTTAATAAAACAAACAGC ATACCTTATTTGTTCTAGGTTTTGTAGCTAGGCAATGATAAATATTTGAA AGAATAATTATAAATATATTACGTATACCAGAAAAACTCAAGTGGTGGCC TGTTTTAAAAAACTGTGCATATGTGTATAGATGTCTCCAGCAGCAAACAA ATGGAAAATATAATGGACAACATCCCTTACATAAATGACTTACATAATGA ATACCTTATTGCTTTATAGTAGGATATAAGACAAACCAAATATGTCCCTG AGTGGGAAGAGTTAATATTGTAAAGATGTCACATTCCTCAAATTAATCCA TACAGTTAATACATTTTCAATCAAACTCTCGATAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0039 a0003c0009t0001g0039	1	364	0.0027	636	c.-20 others(647): Show c.-2002_-2001insGCCTATCGAGAGTTTGATTGAAAATGTATTAACT GTATGGATTAATTTGAGGAATGTGACATCTTTACAATATTAACTCTTCCC ACTCAGGGACATATTTGGTTTGTCTTATATCCTACTATAAAGCAATAAGG TATTCATTATGTAAGTCATTTATGTAAGGGATGTTGTCCATTATATTTTC CATTTGTTTGCTGCTGGAGACATCTATACACATATGCACAGTTTTTTAAA ACAGGCCACCACTTGAGTTTTTCTGGTATACGTAATATATTTATAATTAT TCTTTCAAATATTTATCATTGCCTAGCTACAAAACCTAGAACAAATAAGG TATGCTGTTTGTTTTATTAAGAGGTTTTAAAAATCAGGAATGGGGCCAGG CACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCCGGT GGATCACAAGGTCAGGAGATCCAGACCATCCTAGCCAACATGGTGAAACC CCGTCTCAACTAAAAATACAAAAATTAGCTGGGTATGGTGACGCGTGTAT GTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGGAATTGGAGAG CATGCCACTGCACTCCAGCTTGGGCGACAGAGCGAGACTCTGTATCAAAA AA	TBC1D2	ENSG00000095383.20	transcript	ENST00000465784.7	protein_coding		1894		chr9	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(629): Show GTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCT CTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCT CTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGT CTCTGTCTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTGTCT CTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGT CTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTTTCTCT CTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTT CTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTGTCTCTTTCT CTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCT CTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCT CTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	158	0.0063	636	c.924 others(653): Show c.924-2424_924-2423insGAGAGACAGAGAGAGAGACAGAGAGAGA GAGACAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGA GAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGA GAGAGAGAGAGAAAGAGACAGAGAGAGAGAAAGAGACAGAGAGAGAGAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGA CAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAAAGAGACAGAGAGAGA GAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGACA GAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGA GAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGA GAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGA GAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(629): Show GTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCT CTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTGT CTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCT CTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCT CTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCT CTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCT CTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCT CTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTT CTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCT CTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0072 a0001c0018t0001g0072	1	158	0.0063	636	c.924 others(653): Show c.924-2424_924-2423insGAGAGAGAGACAGAGAGAGAGACAGAGA GAGAGAGACAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGA GAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGACAGA GAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGA CAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGA GAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAA GAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGA GAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGA GAGACAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGA GAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGA GAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGA GAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TM4SF19_chr3_196318547_196343388	196334965	G G	GATGCCCT others(629): Show GATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGG GTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTAGGAGA AGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCT GAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGT AGGAGAGGGAAGGGTGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGG TGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGTGCCCTGAGAAGGTGG GGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGA AGGGATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGG AGGGTGGGTGTAGGAGAGGGAAGGGTGCCCTGAGAAGGTGGGGGTTAGGA GAAGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCC CTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGT GTAGGAGAGGGAAGGGTGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGG GGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0194 a0002c0002t0001g0194	1	172	0.0058	636	c.-2+ others(651): Show c.-2+3298_-2+3299insTCCCTTCCCTCTCCTACACCCACCCTCCCA GTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGGCACCCTTCCCT CTCCTACACCCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCACC TTCTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCCC TCCCTTCTCCTAACCCCCACCTTCTCAGGGCACCCTTCCCTCTCCTACAC CCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGG CATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCCCTCCCTTCTC CTAACCCCCACCTTCTCAGGGCACCCTTCCCTCTCCTACACCCACCCTCC CAGTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGGCACCCTTCC CTCTCCTACACCCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCA CCTTCTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACC CCTCCCTTCTCCTAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTA CACCCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCA GGGCAT	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TM4SF19_chr3_196318547_196343388	196335076	A A	ACTGGGAG others(629): Show ACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGG GTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAG GGATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAG GGTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTAGGAG AAGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCC TGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTG TAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGG GGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGG TGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAG GGAAGGGATGCCCTGAGAAGGTGGGGGTTGGAGAGGGGAGGGGTGCTCTG GGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTG GAGAGGGGAGGGGTGCTCTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATG CCCTGAGAAGGTGGGGGTTGGAGAGGGGAGGGGTGCT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	219	0.0046	636	c.-2+ others(651): Show c.-2+3187_-2+3188insAGCACCCCTCCCCTCTCCAACCCCCACCTT CTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCAGAGCACCCCTC CCCTCTCCAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTACACCC ACCCTCCCAGAGCACCCCTCCCCTCTCCAACCCCCACCTTCTCAGGGCAT CCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCCCTCCCTTCTCCTA ACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCA GTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGGCATCCCTTCCC TCTCCTACACCCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCAC CTTCTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCC CTCCCTTCTCCTAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTAC ACCCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAG GGCATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCCCTCCCTTC TCCTAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTACACCCACCC TCCCAG	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TMEM120B_chr12_121707752_121787068	121748000	C C	CTGGGGTA others(629): Show CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGA GGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGG TAGAAGGTGGGAGGCACTGGGATAGAAGGTGGGAGGCACTGGGGTAGAAG GCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCT GGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTA GAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGC GGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGG GGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGC GGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACT GGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAG GCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCT GGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0115 a0001c0001t0008g0115	1	305	0.0033	636	c.189 others(651): Show c.189-326_189-325insTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC ACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGATAGAAGGTG GGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGG AGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TWIST2_chr2_238843085_238915534	238870635	C C	CCACACAC others(629): Show CCACACACACCACACACCCCACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACCCCATACACACC ACACCCCACACACACCACACACCCCCCACACACCACACACCCCACACACA CCACACCCCATACACACCACACCCCACACACACCACACACCCCCCACACA CCACACACCCCACACACACCACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCATACACACCACACCCCACACACACC ACACCCCACACACACCACACCCCACACACACCACACACCCCATACACACC ACACACCCCCCACACACCACACCCCACACACACCACACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACACCCCATACACACCACACACCCCCCACACACCACACCCCATACACA CCACACACCCCACACACACCACACCCCACACACACCACACCCCACACACC ACACCCCACACACACCACACACCCCACACACACCACACCCCACACACACC ACACACCCCCCACACACCACACCCCATACACACCACA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	227	0.0044	636	c.35 others(655): Show c.35+21903_*35+21904insACACACACCACACACCCCACACCCCA CACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACA CACACCACACCCCATACACACCACACCCCACACACACCACACACCCCCCA CACACCACACACCCCACACACACCACACCCCATACACACCACACCCCACA CACACCACACACCCCCCACACACCACACACCCCACACACACCACACCCCA CACACACCACACCCCACACACACCACACCCCACACACACCACACCCCATA CACACCACACCCCACACACACCACACCCCACACACACCACACCCCACACA CACCACACACCCCATACACACCACACACCCCCCACACACCACACCCCACA CACACCACACACCCCACACACACCACACCCCACACACACCACACCCCACA CACACCACACCCCACACACACCACACACCCCATACACACCACACACCCCC CACACACCACACCCCATACACACCACACACCCCACACACACCACACCCCA CACACACCACACCCCACACACCACACCCCACACACACCACACACCCCACA CACACCACACCCCACACACACCACACACCCCCCACACACCACACCCCATA CACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UMAD1_chr7_7635752_7884223	7679065	T T	TATAAATA others(629): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01169.hp2 HG01981.hp1 others(2): Show HG00280.hp1 HG01169.hp2 HG01981.hp1 HG01981.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0019 a0001c0001t0026 others(1): Show a0001c0001t0009 a0001c0001t0019 a0001c0001t0026 a0001c0001t0067	a0001c0001t0009g0193 a0001c0001t0019g0192 a0001c0001t0026g0056 others(2): Show a0001c0001t0009g0193 a0001c0001t0019g0192 a0001c0001t0026g0056 a0001c0001t0026g0191 a0001c0001t0067g0227	5	145	0.0345	636	c.82+ others(651): Show c.82+5617_82+5618insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTA TAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTAT ATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAA ATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTA GTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
USP12_chr13_27061156_27176811	27063931	A A	AGGGAGGA others(629): Show AGGGAGGAGAGGAGGGAGGGAGGAAAGAAGGGAGGGAGAGGAAGGAAGGA AGGAAGAGAGAGAGGGAAGGGAGGGGAGGGGAGGGGATGGAGGAAGGGAG TAAAGGAGAAAGGAAGGGAGGGTGAAAGAGAGAGGGAGGGAGGAAGGAGG GAGGGGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAG AGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAG GGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAA AGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAG GGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGG AGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAG GAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGA GGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGG AGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGGAGGAAGGAGGAGAGGG AGGGAAGGGAGGGAGGAAGGGAGGGAGAGGAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0040 a0001c0001t0007g0040	1	62	0.0161	636	c.53 others(647): Show c.5351_*5352insCCTTCCTCCTCTCCCTCCCTTCCTCCCTCCCTTC CCTCCCTCTCCTCCTTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCC TCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCT CCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTC CCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCC TCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTC TCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTC TCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTC CCTCTCCTCCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCCC CTCCCTCCTTCCTCCCTCCCTCTCTCTTTCACCCTCCCTTCCTTTCTCCT TTACTCCCTTCCTCCATCCCCTCCCCTCCCCTCCCTTCCCTCTCTCTCTT CCTTCCTTCCTTCCTCTCCCTCCCTTCTTTCCTCCCTCCCTCCTCTCCTC CC	USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding		2224		chr13	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(629): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	177	0.0056	636	c.53+ others(651): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATG TATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGA TAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATA GATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTA TCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATC TATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(629): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCTATAGATAGACATATAGATGTATCTATCGATAGACAG ATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	177	0.0056	636	c.53+ others(651): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGA TGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATG TATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATG TATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTA TCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATC TATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VSIG4_chrX_66016738_66045080	66037121	A A	AATATATA others(629): Show AATATATATAATATATATAATATATATAATATAATATAATGCAATATATA ATAATTATATAATATAATATATAATATATAATATATATTATATATAATAT ATAATATATAATATATATTATATATAATAATATAATATATAATATACATT ATATAATAATATAATGTATATTATATAATAATAATGTAATATATAACATA TATTATATAATAATAATATAAGATATATTATATAATTAATATAATATATA ATATATATTATATAATAATAATATAAGATATATTATATAATTAATATAAT ATATAATATATATTATATAATTAATATAATATATAATATATATTATATAA TAATAATATAATATATATAATAATTATATAATATAGTATATAATATATAT TATATAATAATAATATAATATATATAATAATTATATAATATATATTATAT AATAATAATATAATATATATAATAATTATATAATATTAGAATATATATTA TACAATAATAATATAATATATATTATACAATAATAATATAATATATATAT AATTATATAATATAATATATATAATAATAATATAATATAATATATAATAT ATATTATATAGTAATAATATAATATAATATATAATAT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	12	0.0833	636	c.55+ others(651): Show c.55+2822_55+2823insATATTATATATTATATTATATTATTACTAT ATAATATATATTATATATTATATTATATTATTATTATATATATTATATTA TATAATTATATATATATTATATTATTATTGTATAATATATATTATATTAT TATTGTATAATATATATTCTAATATTATATAATTATTATATATATTATAT TATTATTATATAATATATATTATATAATTATTATATATATTATATTATTA TTATATAATATATATTATATACTATATTATATAATTATTATATATATTAT ATTATTATTATATAATATATATTATATATTATATTAATTATATAATATAT ATTATATATTATATTAATTATATAATATATCTTATATTATTATTATATAA TATATATTATATATTATATTAATTATATAATATATCTTATATTATTATTA TATAATATATGTTATATATTACATTATTATTATATAATATACATTATATT ATTATATAATGTATATTATATATTATATTATTATATATAATATATATTAT ATATTATATATTATATATAATATATATTATATATTATATATTATATTATA TAATTATTATATATTGCATTATATTATATTATATATATTATATATATTAT ATATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(629): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAATAT ATATTATAACTATATTAAATATATAAATTATATAATATATATTATATATT GTATATTATATAATTTATATAATATATTATATGTTATATAATATATATTA TATATTGTATATATTATATTATATATTATATATTTTATATATCATATATA GTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATATT TTTATATATTATATATAATATATATAATTATATATCATATATATTTATAT AATATATGATATATAATATATAATATATATTATGTATTATATAATTATAT AAAATATATCATATATTATATATTATAAATAATATATTATATATTATATA TTATAAATAATATATTATATATATTATATATTATAAATAATATATTATAT ATATTATATATTATAAATAATATATTATATATTATATTATATATTATAAA TAATATATTATATATTATATTATATATTATAAATAATATATTATATATTA TATTATATATTATAAATAATATATTATATATTATATTATAAATAATATAT TATATATTATAAATAATATATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0229 a0001c0001t0026g0229	1	44	0.0227	636	c.-1- others(653): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAATATATATTATAACTATATTAAATATATAAATTATATA ATATATATTATATATTGTATATTATATAATTTATATAATATATTATATGT TATATAATATATATTATATATTGTATATATTATATTATATATTATATATT TTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTATA TAGTATACTATATATTTTTATATATTATATATAATATATATAATTATATA TCATATATATTTATATAATATATGATATATAATATATAATATATATTATG TATTATATAATTATATAAAATATATCATATATTATATATTATAAATAATA TATTATATATTATATATTATAAATAATATATTATATATATTATATATTAT AAATAATATATTATATATATTATATATTATAAATAATATATTATATATTA TATTATATATTATAAATAATATATTATATATTATATTATATATTATAAAT AATATATTATATATTATATTATATATTATAAATAATATATTATATATTAT ATTATAAATAATATATTATATATTATAAATAATATATTATATATAATATG TTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF365_chr10_62369369_62407450	62370962	C C	CATATGTG others(629): Show CATATGTGATATATATCATATATATCACATATATGATATATATATGTGAT ATATATCATATATATCACATATATGATATATATCATATGTGATATATATC ATATATATCACATATATGATATATATCATATGTGATATATATCATATATC ACATATATGATATATATCATATGTGATATATATCATATATATCACATATA TGATATATATCATATGTGATATATATCATATATATCACATATATATATCA TATGTGATATATATCATATATATCACATATATGATATATATCATATGTGA TATATATCATATATATCACATATATGATATATATCATATATGTGATATAT ATCATATATATCACATATATGATATATATCATATATGTGATATATATCAC ATATGTGATATATATCATATCACATATCATATGACATATCATATCACATA TCACATATCACATATCATATGATATATATCACATGTGATATATAGCATAT GTGATATATATCATATATATCACATATGATATATAGCATATGTGATATAT ATCATATATATCACATATGATATATAGCATATGTGATATATATCATATAT ATCACATGTGATATATAGCATATGTGATATATATGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	328	0.0030	636	c.-35 others(647): Show c.-3510_-3509insATATGTGATATATATCATATATATCACATATATG ATATATATATGTGATATATATCATATATATCACATATATGATATATATCA TATGTGATATATATCATATATATCACATATATGATATATATCATATGTGA TATATATCATATATCACATATATGATATATATCATATGTGATATATATCA TATATATCACATATATGATATATATCATATGTGATATATATCATATATAT CACATATATATATCATATGTGATATATATCATATATATCACATATATGAT ATATATCATATGTGATATATATCATATATATCACATATATGATATATATC ATATATGTGATATATATCATATATATCACATATATGATATATATCATATA TGTGATATATATCACATATGTGATATATATCATATCACATATCATATGAC ATATCATATCACATATCACATATCACATATCATATGATATATATCACATG TGATATATAGCATATGTGATATATATCATATATATCACATATGATATATA GCATATGTGATATATATCATATATATCACATATGATATATAGCATATGTG ATATATATCATATATATCACATGTGATATATAGCATATGTGATATATATG AT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3406		chr10	TogoVar
ABCC1_chr16_15944616_16148053	15999866	C C	CCTTCCTT others(630): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	209	0.0048	637	c.49- others(652): Show c.49-7950_49-7949insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
ABR_chr17_998519_1184981	1173286	C C	CCAACACA others(630): Show CCAACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCC CACACATCACCTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCC GACATCACCTCAGCCCACCCCCCCCACACATCACCTCAGCCCACCCAACA CATCACCTCAGCCCACCCAACACGTCACCTCAGCCCACCCAACACATCAC CTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTC AGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGTCCA CCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAAC ACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACACATCA CCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCACCCAACACATCACCT CAGTCCACTCAACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCC ACTCAACACATCACCTCAGCCCACCCAACACGTCACCTCAGCCCACCCAA CACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCGCCCC ATCACCTCAGCCCACCCAACACATCACCTCAGTCCACT	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA18954.hp2 NA18970.hp2 others(7): Show HG04199.hp2 NA18954.hp2 NA18970.hp2 NA18979.hp1 NA18980.hp1 NA19000.hp2 NA19056.hp2 NA19080.hp1 NA19081.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0022 a0001c0001t0030 a0001c0001t0036	a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0005g0305 others(7): Show a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0005g0305 a0001c0001t0009g0021 a0001c0001t0009g0045 a0001c0001t0011g0124 a0001c0001t0013g0042 a0001c0001t0022g0046 a0001c0001t0030g0106 a0001c0001t0036g0043	10	281	0.0356	637	c.61+ others(652): Show c.61+6380_61+6381insAGTGGACTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAG GTGATGTGTTGGGTGGGCTGAGGTGACGTGTTGGGTGGGCTGAGGTGATG TGTTGAGTGGGCTGAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGA GTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGCGGGGGGTG GACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGA GGTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGAT GGGGGGGGTGGACTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTG GGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGACGTGTTGGGTGGGCTG AGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGGGGGTGGGCTGAG GTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGT GATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGA TGTGTTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173286	C C	CCAACACA others(630): Show CCAACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCC CACACATCACCTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCC GACATCACCTCAGCCCACCCCCCCTACACATCACCTCAGCCCACCCAACA CATCACCTCAGCCCACCCAACACGTCACCTCAGCCCACCCAACACATCAC CTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTC AGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGTCCA CCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAAC ACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACACATCA CCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCACCCAACACATCACCT CAGTCCACTCAACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCC ACTCAACACATCACCTCAGCCCACCCAACACGTCACCTCAGCCCACCCAA CACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCGCCCC ATCACCTCAGCCCACCCAACACATCACCTCAGTCCACT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	272	0.0037	637	c.61+ others(652): Show c.61+6380_61+6381insAGTGGACTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAG GTGATGTGTTGGGTGGGCTGAGGTGACGTGTTGGGTGGGCTGAGGTGATG TGTTGAGTGGGCTGAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGA GTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGCGGGGGGTG GACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGA GGTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGAT GGGGGGGGTGGACTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTG GGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGACGTGTTGGGTGGGCTG AGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTAGGGGGGGTGGGCTGAG GTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGT GATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGA TGTGTTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACTN2_chr1_236681499_236769631	236756295	T T	TGTTAGAA others(630): Show TGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACC GTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACCG TTAGAACCCTGGTTATAGAGTATGTACTGCAGAGTGCCCGCTGCCACCGT TAGAACCCTGGTTATAGAGTATGTACTGCAGAGTGCCCGCTGCCACCATT AGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACCGTTA GAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACCGTTAG AACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACCGTTAGA ACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACCGTTAGAA CCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACCGTTAGAAC CCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACTGTTAGAACC CTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCC TGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCT GGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0069 a0001c0001t0004g0069	1	331	0.0030	637	c.215 others(656): Show c.2155-1143_2155-1142insCGTTAGAACCCTGGTAATAGAGTATA TACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTTATAGAGTATGT ACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTTATAGAGTATGTA CTGCAGAGTGCCCGCTGCCACCATTAGAACCCTGGTAATAGAGTATATAC TGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTATATACT GCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTATATACTG CAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTATATACTGC AGAGTGCCCGCTGCCACCGTTAGAACCCTGGTTATAGAGTATATACTGCA GAGTGCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTATATACTGCAG AGGGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGA GTGCCCGCTGCCACTGTTAGAACCCTGGTTATAGAGTATATACTGCAGAG TGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGT GCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTG CCCGCTGCCAC	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ADPRHL1_chr13_113394611_113458488	113419014	T T	CCCTTCCT others(630): Show CCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCC CTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTTCTTCCCCTTC CCCTCCCCTTCCCTTCCTTCTTTTCCTTCCTTCACTCCCTCCTTCCTTCC TTCTTCCCTCCCTCCCTCCCTCCTCTCTCTCCCTCCCTTCCTGTCTTTTC CCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCC TCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTC CCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCT CCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCT TCTTTTCCTTCCTTCACTCCCTCCTTCCTTCCTTCTTCCCTCCCTCCCTC CCTCCCTCTCTCCCTCCCTTCCTGTCTTTTCCCTCTCTCCCTCCCTTCCT CTTTTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTT CTTTTCCTTCCCTCCCTCCCTCCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0025 a0002c0029t0025	a0002c0029t0025g0122 a0002c0029t0025g0122	1	197	0.0051	637	c.106 others(656): Show c.1061+3812_1061+3813insAGGGAGGGAGGAAGGGAGGGAGGGAG GGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGA AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAG GGAGGGAAAAGAGGAAGGGAGGGAGAGAGGGAAAAGACAGGAAGGGAGGG AGAGAGGGAGGGAGGGAGGGAGGGAAGAAGGAAGGAAGGAGGGAGTGAAG GAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAA GGGAGGGAGGGAGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAG GAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAG GGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGG AGGGAGGGAGGGAAAAGACAGGAAGGGAGGGAGAGAGAGGAGGGAGGGAG GGAGGGAAGAAGGAAGGAAGGAGGGAGTGAAGGAAGGAAAAGAAGGAAGG GAAGGGGAGGGGAAGGGGAAGAAAGGAAGGGAGGGAGGAAGGAAGGGAGG GAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAA GAAAGGAAGGG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar

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