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
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(617): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCAC CCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCAT CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTAC CCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCAT CCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02056.hp1 NA19001.hp1 HG00741.hp1 HG02056.hp1 NA19001.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0197 a0002c0001t0001g0209 a0002c0001t0001g0230 a0002c0001t0001g0197 a0002c0001t0001g0209 a0002c0001t0001g0230	3	10	0.3000	624	c.937 others(641): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCCACCC ACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCC ACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCACCC ACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCAT	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(617): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCAC CCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCAT CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTAC CCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCAT CCATCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp2 HG02572.hp2 HG02630.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0186 a0002c0001t0001g0189 a0002c0001t0001g0186 a0002c0001t0001g0189	2	9	0.2222	624	c.937 others(641): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCCACCC ACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCC ACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCC ACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCAT	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(617): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCAC CCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCAT CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCTACCCAT CCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCAT CCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0045 a0002c0012t0001g0045	1	8	0.1250	624	c.937 others(641): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCCACCC ACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTCATTCATCCATCCATCCATCTACCCATCCACCC ACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCACCC ACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCAT	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(617): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCAC CCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCAT CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCC ATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCAT CCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCAT CCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG03704.hp1 NA18946.hp1 others(3): Show HG02015.hp1 HG03704.hp1 NA18946.hp1 NA18987.hp1 NA18993.hp1 NA19068.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0023 a0002c0001t0001g0236 a0002c0001t0001g0245 others(2): Show a0002c0001t0001g0023 a0002c0001t0001g0236 a0002c0001t0001g0245 a0002c0001t0001g0249 a0002c0001t0001g0256	6	13	0.4615	624	c.937 others(641): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCCACCC ACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCAT CCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCACCC ACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCACCC ACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCAT	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(617): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCGTCCGTCCATCCATCCACCCAT CCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCAT CCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCC ACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTAT CCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCC ATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCAC CCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCACCCACCCACCCACCCACCCACCCATCCATCCATCCAT CCACCCACCCACCCACCCACCCACC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG04204.hp1 NA18963.hp2 others(4): Show HG00423.hp1 HG04204.hp1 NA18963.hp2 NA18965.hp2 NA18969.hp2 NA18970.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0260 a0001c0002t0001g0262 others(3): Show a0001c0002t0001g0026 a0001c0002t0001g0260 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0276	7	14	0.5000	624	c.937 others(641): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCCACCC ACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCCACCC ATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCACTCAT CCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCATCC ATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCATCCAT CCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCACCCACCC ACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCACCCACCCACCCACCCACCCACCCATCCATCCATCCATCCACCC ACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT	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(617): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCGTCCATCCATCCGTCCGTCCATCCATCCAC CCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCAT CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTAC CCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCAT CCATCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0188 a0002c0001t0001g0188	1	8	0.1250	624	c.937 others(641): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCCACCC ACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCATCCGTCCATCCATCCGTCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCC ACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCC ACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCAT	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(617): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCGTCCATCCAC CCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCC ATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCAT CCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCAT CCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCC ACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTAT CCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCAT CCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCAT CCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0228 a0002c0001t0001g0228	1	8	0.1250	624	c.937 others(641): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCATCCGTCCATCCACCCACCC ACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCAC CCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCCACCC ATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCACTCAT CCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCATCC ATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCACCC ACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCACCC ACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCAT	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(617): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCAC CCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCC ACCCACCCATCCATCCATCCATCCGTCCGTCCGTCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCC ATCCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACAC CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCATCCATCCAT CCATCCATCTACCCATCCACCCACCCACCCACACACCTATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCAT CCATCCATCCACCCACCCACCCACC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01081.hp1 HG01978.hp2 HG00642.hp1 HG01081.hp1 HG01978.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0060 a0003c0003t0001g0083 a0003c0003t0001g0088 a0003c0003t0001g0060 a0003c0003t0001g0083 a0003c0003t0001g0088	3	10	0.3000	624	c.937 others(641): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCCACAC ACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCACCCAC CCATCCATCCATCCATCCGTCCGTCCGTCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCC ATCTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCC ATCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT	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(617): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCAC CCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCC ACCCACCCATCCATCCATCCATCCGTCCGTCCGTCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCC ATCCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACAC CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCAT CCATCTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCAT CCATCCATCCACCCACCCACCCACC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0076 a0003c0003t0001g0076	1	8	0.1250	624	c.937 others(641): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCCACAC ACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCACCCAC CCATCCATCCATCCATCCGTCCGTCCGTCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCT ACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCC ATCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT	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(617): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCAC CCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCC ATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCAT CCACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCC GTCCATCCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCAC ACACCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC ATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACAC ACACCTATCCATCCATCCACCCATCAACCCATCCACCCACCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCATCCAT CCATCCATCCATCTACCCATCCACCCACCCACCCACACACCTATCCATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCAT CCATCCATCCACCCACCCACCCACC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02886.hp1 HG02965.hp1 others(3): Show HG02055.hp2 HG02886.hp1 HG02965.hp1 HG03130.hp1 HG03139.hp2 HG03540.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0006 a0001c0005t0001g0324 a0001c0005t0001g0325 others(1): Show a0001c0005t0001g0006 a0001c0005t0001g0324 a0001c0005t0001g0325 a0001c0005t0001g0328	6	13	0.4615	624	c.937 others(641): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCC ACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCAC CCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCAT CCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCAT CCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCT ATCCATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCC ATCCATCTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCAT CCATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCC ATCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEPTIN9_chr17_77276499_77505593	77356681	C C	CCCCCTCC others(617): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCC CTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCTCCCCA CCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCC CCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCT CCCCATCCCCTCCCCTCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCATC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCT CCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCT TCCCCCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0072 a0001c0001t0021g0072	1	117	0.0085	624	c.77- others(641): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCTTCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCC CCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCTCCCCAT CCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCT CCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACC CCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCC CTCCCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SIGIRR_chr11_400716_419999	412049	G G	GGGAGGGG others(617): Show GGGAGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGGGGGG GGTGCCCAGCTCTGAACATGTCTGGATACAGTCGGGGAGGGGTGCTCAGC TCTGACCATGTCTGGATACAGTCGGGGGGGGGGGTGCCCAGCTCTGACCA TGTCTGGATACAGTCGGTGGGGGGGGGGGGGTGCCCAGCTCTGACCATGT CTGGATGCAGTCGGGGAGGGGTGCTCAGCTCTGACCATGTCTGGATGCAG TCGGAGGGGGTGCCCAGCTCTGACCATGTCTGAATGCAGTCGGGCGGGGG GGGGGTGCCCAGCTCTGACCATGTCTGAATGCAGTCGGGGAGGGGGGTGC CCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCA TGTCTGGATACAGTCGGTGGGGGGTGCCCAGCTCTGACCATGTCTGGATA CAGTCGGTGGGGGGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTC GGGGGGGGTGCCCAGCTCTGACCATGTCTGAATGCAGTCGGGGGGGGGGG GGTGCCCAGCTCTGACCATGTCTGAATGCAGTCGGGGAGGGGGGTGCCCA GCTCTGACCATGTCTGGATGCAGTC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	144	0.0069	624	c.-15 others(643): Show c.-153-2023_-153-2022insGACTGCATCCAGACATGGTCAGAGCT GGGCACCCCCCTCCCCGACTGCATTCAGACATGGTCAGAGCTGGGCACCC CCCCCCCCCCGACTGCATTCAGACATGGTCAGAGCTGGGCACCCCCCCCG ACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCCCCCCCACCGACTGT ATCCAGACATGGTCAGAGCTGGGCACCCCCCACCGACTGTATCCAGACAT GGTCAGAGCTGGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGG CACCCCCCTCCCCGACTGCATTCAGACATGGTCAGAGCTGGGCACCCCCC CCCCGCCCGACTGCATTCAGACATGGTCAGAGCTGGGCACCCCCTCCGAC TGCATCCAGACATGGTCAGAGCTGAGCACCCCTCCCCGACTGCATCCAGA CATGGTCAGAGCTGGGCACCCCCCCCCCCCCACCGACTGTATCCAGACAT GGTCAGAGCTGGGCACCCCCCCCCCCGACTGTATCCAGACATGGTCAGAG CTGAGCACCCCTCCCCGACTGTATCCAGACATGTTCAGAGCTGGGCACCC CCCCCCCCGACTGTATCCAGACATGGTCAGAGCTGGGCACCCCCCTCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SKI_chr1_2223319_2315213	2281252	G G	GGATGCCC others(617): Show GGATGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAG ACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGTG GTGGCGGAGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGG AGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTT CAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAG AGGATGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC CCGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAA GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC GGTGGCGGAGATCTTCAGAGAGAGGACACCCGAGAAGACAGGCGGTGGCG GAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAG AAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAG GCGGTGGCGGAGATCTTCATAGAGA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0185 a0002c0004t0002g0185	1	182	0.0055	624	c.970 others(643): Show c.970-21726_970-21725insGATGCCCGAGAGGACAGGCGGTGGCG GAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCT TCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCATAGA GAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGCGGACG CCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGA GGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG CGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGC GGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATC TTCATAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG AGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC ACCCGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGA TCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAG AGAGAGGATGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(617): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGA GAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGGAA GGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGAGGGGAGGAGGAGGCAGAA AGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	2	0.5000	624	c.624 others(639): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCT CCTCCTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTG CCTCCTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCT CTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTC CTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTC TTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTC CTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTT CCCTCCTCCTTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACT TCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCC TCTCCCTCCTCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCC CTCCCCCTCCCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCT CCTCTATTCTCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCT TCTTTCCTTCCTCCTCCTCCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SMYD3_chr1_245744347_246512279	245977025	A A	AGCCTAGG others(617): Show AGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAG CCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGG GAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGA AAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAA GCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGC CATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATC GTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCT CTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCT AGCCTAGGGAAAGCCATCGTCTCCG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0108 a0002c0003t0001g0108	1	97	0.0103	624	c.532 others(643): Show c.532-47089_532-47088insCGGAGACGATGGCTTTCCCTAGGCTA GAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTAGGCTAGA GACGATGGCTTTCCCTGGGCTAGAGACGATGGCTTTCCCTGGGCCGGAGA CGATGGCTTTCCCTAGGCCGGAGACGATGGCTTTCCCTGGGCTAGAGACG ATGGCTTTCCCTGGGCTAGAGACGATGGCTTTCCCTGGGCCGGAGACGAT GGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTAGGCTAGAGACGATGG CTTTCCCTAGGCTAGAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCT TTCCCTAGGCTAGAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTT CCCTAGGCTAGAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCC CTAGGCTAGAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCT AGGCTAGAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTGG GCCGGAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTAGGC TAGAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTAGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	965203	C C	CTTGGACC others(617): Show CTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCA ATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCT GGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGG ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCT CCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCC CCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCT CCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCA ATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCT GGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGG ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCT CCTCCTGGTCCCCAGTCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0121 a0002c0005t0001g0121	1	60	0.0167	624	c.72+ others(641): Show c.72+14136_72+14137insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCT CCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGAC CCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCC TCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCT CCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1221594	C C	CTGCCTCT others(617): Show CTGCCTCTGTCTCTGCCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCT CTCTGTCCCTCTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCTGC CTCTGCCTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTCTCTCTGTCTCT GTCTCTGTCTCTCTCTGTCTCTGCCTCTGTCTCTCTCTTTGTCCCTCTCT GTCTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCT CTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCTGCCTCTGTCT CTGCCTCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTGTGTCCCT CTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCTGCATCTGCCTCT CTCTGTCTCTGTCTCTGCTTCTCTCTGTCTCTCTCTTTGTCCCTCTCTGT CTCTGTCTCTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCT CTCCCTGTCTCTGTCTCTCTGTCACTGTCTCTGCCTCTGTCTCTGCCTCT CTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTTTCAGTCT CTGGTTTTGTCTCTGTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp2 HG02559.hp1 others(2): Show HG01109.hp2 HG02109.hp2 HG02559.hp1 NA19030.hp1 NA19043.hp1	a0002 a0003 a0009 a0002 a0003 a0009	a0002c0005 a0002c0033 a0003c0008 others(1): Show a0002c0005 a0002c0033 a0003c0008 a0009c0012	a0002c0005t0001 a0002c0033t0001 a0003c0008t0001 others(2): Show a0002c0005t0001 a0002c0033t0001 a0003c0008t0001 a0003c0008t0002 a0009c0012t0001	a0002c0005t0001g0100 a0002c0033t0001g0126 a0003c0008t0001g0102 others(2): Show a0002c0005t0001g0100 a0002c0033t0001g0126 a0003c0008t0001g0102 a0003c0008t0002g0072 a0009c0012t0001g0066	5	163	0.0307	624	c.719 others(643): Show c.719+12365_719+12366insGCCTCTGTCTCTGCCTCTCTGTGTCT CTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTCTCAGTCTCTGGTTTTGT CTCTGTCTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTCTCTGCCTCTGC CTCTCTCTGTCTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTGCCTCT GTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCT AGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTCTCT GTCGCTGTCTCTGCCTCTGTCTCTGCCTCTCTCTGTGTCTCTCTGCCCCT CCCTCTGTCTCTCTGTGTCCCTCTCAGTCTCTGGTTTTGTCTCTGTCTCT CTCTGTCTCTGCATCTGCCTCTCTCTGTCTCTGTCTCTGCTTCTCTCTGT CTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTAGCTCTGC CTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCACTGT CTCTGCCTCTGTCTCTGCCTCTCTCTGTGTCTCTCTGCCCCTCCCTCTGT CTCTCTCTGTCCCTTTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1223101	G G	GATCGCTG others(617): Show GATCGCTGTAGAGGAAGGCGGTGCAGTGATGGAGTGCGTCTCCCTGTCCT GCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAACTGGTGCAGTGAT GGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTA GAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGGT GGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCATC TCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCG GCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTG GATCGCTGTAGAGGAAAGTGGCGCAGTGATGGAGGGCGTCTCCCTGTCCT GCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGAT GGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTA GAGGAAAGTGGTGCAGTGATGGAGTGCGTCTCCCTGTCCTGCCTGCTGCT GGAGGTGCTGGATCGCTGTAGAGGAAGGCGGTGCAGGATGGAGGGTGTCT CCCTGTCCTGCTGTGGAGGTGCTGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02738.hp1 HG03471.hp1 others(1): Show HG00099.hp2 HG02738.hp1 HG03471.hp1 NA20905.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0002 a0001c0001t0001 a0005c0006t0002	a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0173 others(1): Show a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0173 a0005c0006t0002g0003	4	167	0.0240	624	c.719 others(643): Show c.719+13886_719+13887insGGCGGTGCAGTGATGGAGTGCGTCTC CCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAACTGGT GCAGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGA TCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGC CTGCTGGTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGG AGGGCATCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGA GGAAAGCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGG AGGTGCTGGATCGCTGTAGAGGAAAGTGGCGCAGTGATGGAGGGCGTCTC CCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGT GCAGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGA TCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGTGCGTCTCCCTGTCCTGC CTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAGGCGGTGCAGGATGGA GGGTGTCTCCCTGTCCTGCTGTGGAGGTGCTGAATCGCTGTAGAGGAA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAAR_chr9_35904490_35916686	35914229	G G	GGTGAGTG others(617): Show GGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGT GTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGT GTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGT GTGTAGTGTGGGTGTGTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATG TGTGTAGTGTGTATTTTTTTATGCTGTAGTGTGTGTGTAAGCTGTATGTG TGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGGTGTGTGTGTAAGCTGT ATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAG CTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGCTGTATGTGTGTAGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTA AGTTGTATGTGTGTAGTGAGTGTGTGTGTGTTTTTGTTTGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGG TGTGTGTGTAAGTTGTATGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	88	0.0114	624	c.35 others(635): Show c.3538_*3539insGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGCTGTATGTGTGTAGTGTGGGTGTGTTTTGTATGCTGTGGTGTG TGTGTAAGCTGTATGTGTGTAGTGTGTATTTTTTTATGCTGTAGTGTGTG TGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGGT GTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTG TGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTAT GCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTGTTTTTGTATGC TGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTGTTTTT GTTTGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTT GTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGT TTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTA	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2544		chr9	TogoVar
SUFU_chr10_102498972_102638535	102637474	A A	ATTATATA others(617): Show ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATAATATATATATTATATATTATATAACTAT ATATTATATATAATATATATATTATATATTATATAACTATATATTATATA TAATATATATATTATATATTATATAACTATAAATTATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATATATATAACTATATATTATATATAATATATATATTATATATAATATA ACTATATATTATATATAATATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0183 a0001c0001t0003g0183	1	228	0.0044	624	c.73 others(635): Show c.7319_*7320insTTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATATATTATATATAATATATATATTAT ATATTATATAACTATATATTATATATAATATATATATTATATATTATATA ACTATATATTATATATAATATATATATTATATATTATATAACTATAAATT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATATATATAACTATATATTATATATAATATATAT ATTATATATAATATAACTATATATTATATATAATATATAG	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3940		chr10	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(617): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCT CTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCT GTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCT CTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCT CTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCT CTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCT CTCTCTCTCTCTGTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCT CTGTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCT CTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCT CTTTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCT CTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTGTCT CTCTCTCTGTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0245 a0001c0001t0038g0245	1	111	0.0090	624	c.924 others(641): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGA GAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGAGA CAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAGAGA GAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGA GAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAACAGAGAGAGAGAGAGA GAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGACAGAGA GAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGA GACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGA GAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGA GAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(617): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCT CTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCT GTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCT CTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCT CTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCT CTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCT CTCTCTCTCTCTGTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCT CTGTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCT CTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCT TTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCT CTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTGTCT CTCTCTCTGTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0076 a0001c0001t0023g0076	1	111	0.0090	624	c.924 others(641): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGA GACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAGA GAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGA GAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAACAGAGAGAGAGAGAGA GAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGACAGAGA GAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGA GACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGA GAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGA GAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(617): Show GTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCT CTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGT CTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGT CTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTGTCTCT CTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCT CTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCT GTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCT CTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTGTCTCTTTCTCTCTCTCT CTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTCTGTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	158	0.0063	624	c.924 others(641): Show c.924-2424_924-2423insGACAGAGAGAGAGACAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGA GAGAGAGAAAGAGACAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGA GAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGA GAGACAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGACAGAGAGAGAGA GACAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGACA GAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGACAGA GAGAGAGACAGAGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACA GAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(617): Show GTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCT CTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCT CTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTGTCTCTCT CTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCT CTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCT GTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCT CTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTGTCTCTTTCTCTCTCTCT CTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTCTGTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18906.hp1 HG03225.hp2 NA18906.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0016 a0001c0001 a0008c0016	a0001c0001t0010 a0008c0016t0010 a0001c0001t0010 a0008c0016t0010	a0001c0001t0010g0249 a0008c0016t0010g0250 a0001c0001t0010g0249 a0008c0016t0010g0250	2	159	0.0126	624	c.924 others(641): Show c.924-2424_924-2423insGACAGAGAGAGAGACAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGA GAGAGAGAAAGAGACAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGA GAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGA GACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGACAGAGAGAGA GAGACAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGA CAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415743	C C	CTCTCTCT others(617): Show CTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCT CTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCT CTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCT CTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCT CTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCTCTCTGTCTCTCT CTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCT CTGTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCT CTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCT CTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTCTGTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0240 a0001c0001t0003g0240	1	249	0.0040	624	c.924 others(641): Show c.924-2428_924-2427insCAGAGAGAGAGACAGAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGA AAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGA GAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGA GAAAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGA GAGACAGAGAGAGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGA GAGACAGAGACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGA GAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGA GAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGA GAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TM4SF1_chr3_149364022_149382649	149380670	G G	GGCCAGCC others(617): Show GGCCAGCCGCCTTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAG GGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGG AGGTGAGGGGGTCAGCTCCCTGCCCGGCCAGCCGCCCCGTCTGGGAGGGA GGTTTGGGGGTCAGCCCCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCACCCG GCCAGCCGCCCCGTCTGGGAGGGAGGTTTGGGGGTCAGCCCCCCGCCCGA CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCCCGCCCGGC CAGCCGCCTTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGAGTCAGCCCCCCGCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02559.hp2 HG02630.hp1 others(7): Show HG02257.hp2 HG02559.hp2 HG02630.hp1 HG02976.hp1 HG03130.hp1 HG03195.hp1 NA18522.hp2 NA18906.hp2 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0007g0062 a0001c0001t0001g0001 a0001c0001t0007g0062	10	376	0.0266	624	c.-31 others(635): Show c.-3124_-3123insTGGGCGGGGGGCTGACTCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACAAGGCGGCTGGCCGGGCGG GGGGCTGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGG GGGCTGACCCCCAAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGG GGCTGACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCC GGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCAAACCTCCCTCCCA GACGGGGCGGCTGGCCGGGCAGGGAGCTGACCCCCTCACCTCCCTCCCGG ACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACAAGGCGGCTGGC	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		3022		chr3	TogoVar
TMEM132B_chr12_125181386_125667369	125612896	A A	ATATTTAT others(617): Show ATATTTATATTTTATTTTTATATTTATATTATATATATATTTTTATATTT ATATTTATATATTATTATATTATATTTATATATTATATAAAAATATATAT CATATATATTTATATATTATATAAAAATATATATCATATATATTTATATA TTATATAAAAATATATATCATATATATTTATATATTATATAAAAATATAT ATCATATATATTTATATATTATATAAAAATATATATCATATATATTTATA TATTATATAAAAATATATATCATATATATTTATATATTATATAAAAATAT ATATCATATATATTTATATATTATATAAAAATATATATCATATATATTTA TATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCA TATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAAA ATATATATCATATATATTTATATATTAAAAATATATATCATATATATTTA TATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCA TATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAAA ATATATATCATATATATTTATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0037 a0001c0003t0037	a0001c0003t0037g0047 a0001c0003t0037g0047	1	58	0.0172	624	c.143 others(645): Show c.1437+28904_1437+28905insTTTATATTTTATTTTTATATTTAT ATTATATATATATTTTTATATTTATATTTATATATTATTATATTATATTT ATATATTATATAAAAATATATATCATATATATTTATATATTATATAAAAA TATATATCATATATATTTATATATTATATAAAAATATATATCATATATAT TTATATATTATATAAAAATATATATCATATATATTTATATATTATATAAA AATATATATCATATATATTTATATATTATATAAAAATATATATCATATAT ATTTATATATTATATAAAAATATATATCATATATATTTATATATTATATA AAAATATATATCATATATATTTATATATTAAAAATATATATCATATATAT TTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATATA TCATATATATTTATATATTAAAAATATATATCATATATATTTATATATTA AAAATATATATCATATATATTTATATATTAAAAATATATATCATATATAT TTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATATA TCATATATATTTATATATTAAAAATATATATCATATATATTTATATATTA	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM255B_chr13_113754226_113821995	113817317	T T	TCCTCCCC others(617): Show TCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCC CTCCCCCCACGGGACACATCCCTCCTCCCCCCACGGGACACATACCCCCT CCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCC CCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCT CCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCC ACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAG GGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCTCGG GGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGA CACATCCCCCCTCCCCCCAGGGGACACATACCCCCTCCCTCCAGGGGACA CATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACA TCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATA CCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCC CCCTCCCTCCAGGGGACACATCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0210 a0001c0001t0054g0210	1	126	0.0079	624	c.54 others(635): Show c.5414_*5415insCCTCCCCCCACGGGACACATCCCCCCTCCCCCCA CGGGACACATACCCCCTCCCCCCACGGGACACATCCCTCCTCCCCCCACG GGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGG ACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGAC ACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACAC ATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACAT CCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCC CCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCC CCTCCCCCCACGGGACACATCCCCCCTCCCCCCAGGGGACACATACCCCC TCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTC CCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCC CCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTC CTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCC	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding		323		chr13	TogoVar
TMEM255B_chr13_113754226_113821995	113817352	C C	CGGGACAC others(617): Show CGGGACACATACCCCCTCCCCCCACGGGACACATCCCTCCTCCCCCCACG GGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGG ACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGAC ACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACAC ATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACAT CCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCC CCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCC CCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCC TCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTC CCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCC CCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTC CTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCA CGGGACACATACCCCCTCCCTCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	242	0.0041	624	c.54 others(635): Show c.5449_*5450insGGGACACATACCCCCTCCCCCCACGGGACACATC CCTCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCCC CCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCC CTCCCTCCAGGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCT CCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCC CCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCT CCTCGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCC AGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCAC GGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGG GGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGA CACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACA CATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACA TCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding		358		chr13	TogoVar
TSHZ2_chr20_52967358_53500330	53204252	T T	TATGATGA others(617): Show TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATGATATGATACTATATCATCATATGAT GATATGATACTATATCATCATATGATGATATGATACTATATCATCATATG ATGATATGATACTATATCATCATATGATGATATGATACTATATCATCATA TGATGATATGATACTATATCATAAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0036 a0001c0002t0003g0036	1	87	0.0115	624	c.41- others(641): Show c.41-49219_41-49218insGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATGATACTATATCA TCATATGATGATATGATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATAACATGATGATATGATACTATATCATCATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TWIST2_chr2_238843085_238915534	238870297	C C	CAAACCAC others(617): Show CAAACCACACACCCCACACACACCACACACCCCACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACACCCCCCACACACCACACCCCATACACACCACACCCCACACACACCA CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCATACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCATACACACCACACACACCACACACCCCACACACACCACACCCCA CACACCCCACACACACCACACCCCATACACACCACACCCCACACACACAC CACACACCACACCCCATACACACCACACCCCACACACCCCCCACACACCA CACCCCATACACACCACACCCCACACACCCCCCACACACCACACCCCATA CACACCACACCCCACACACACCACACCCCACACACACCACACACCCCACA CACACCACACCCCATACACACCACACCCCACACACACCACACCCCACACA CACCACACCCCACACACACCACACA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	96	0.0104	624	c.35 others(643): Show c.35+21564_*35+21565insAAACCACACACCCCACACACACCACA CACCCCACACCCCACACACACCACACCCCACACACACCACACCCCACACA CACCACACACCCCACACACACCACACACCCCCCACACACCACACCCCATA CACACCACACCCCACACACACCACACACCCCACACACACCACACCCCACA CACACCACACCCCACACACACCACACCCCACACACACCACACCCCACACA CACCACACACCCCACACACACCACACCCCATACACACCACACCCCACACA CACCACACACCCCACACACACCACACCCCATACACACCACACACACCACA CACCCCACACACACCACACCCCACACACCCCACACACACCACACCCCATA CACACCACACCCCACACACACACCACACACCACACCCCATACACACCACA CCCCACACACCCCCCACACACCACACCCCATACACACCACACCCCACACA CCCCCCACACACCACACCCCATACACACCACACCCCACACACACCACACC CCACACACACCACACACCCCACACACACCACACCCCATACACACCACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
UBE4A_chr11_118354600_118404211	118355934	T T	TATGTGTG others(617): Show TATGTGTGTGTATACGCATACACACATATGTGTGTGTATACGCATACACA CATATGTGTGTGTATACGCATACACACATATGTGTGTGTATACGCATACA CACATATGTGTGTGTATACGCATACACACATATGTGTGTGTATACGCATA CACACATATGTGTGTGTATACGCATACACACATATGTGTGTGTATACGCA TACACACATATGTGTGTGTATACGCATACACACATATGTGTGTGTATACG CATACACACATATGTGTGTGTATACGCATACACACATGTGTGTGTATACG CATACACACATGTGTGTGTATACGCATACACACATGTGTGTGTATACGCA TACACACATGTGTGTGTATACGCATACACACATGTGTGTGTATACGCATA CACACATATGTGTGTGTGTATACGCATACACACATATGTGTGTGTGTATA CGCATACACACATATGTGTGTGTGTATACGCATACACACATATGTGTGTG TGTATACGCATACACACATATGTGTGTGTGTATACGCATACACACATATG TGTGTGTGTATACGCATACACACATATGTGTGTGTGTATACGCATACACA TATGTGTGTATGCGTATACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0038 a0001c0001t0004g0038	1	313	0.0032	624	c.-37 others(635): Show c.-3782_-3781insATGTGTGTGTATACGCATACACACATATGTGTGT GTATACGCATACACACATATGTGTGTGTATACGCATACACACATATGTGT GTGTATACGCATACACACATATGTGTGTGTATACGCATACACACATATGT GTGTGTATACGCATACACACATATGTGTGTGTATACGCATACACACATAT GTGTGTGTATACGCATACACACATATGTGTGTGTATACGCATACACACAT ATGTGTGTGTATACGCATACACACATATGTGTGTGTATACGCATACACAC ATGTGTGTGTATACGCATACACACATGTGTGTGTATACGCATACACACAT GTGTGTGTATACGCATACACACATGTGTGTGTATACGCATACACACATGT GTGTGTATACGCATACACACATATGTGTGTGTGTATACGCATACACACAT ATGTGTGTGTGTATACGCATACACACATATGTGTGTGTGTATACGCATAC ACACATATGTGTGTGTGTATACGCATACACACATATGTGTGTGTGTATAC GCATACACACATATGTGTGTGTGTATACGCATACACACATATGTGTGTGT GTATACGCATACACATATGTGTGTATGCGTATACACACAC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3665		chr11	TogoVar
VAV2_chr9_133756894_133997324	133827492	G G	GGGGCATC others(617): Show GGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGCACG GGCATCGCCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGG CATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCA TCGCCAGCTACCGCTGCGCCCACTGAGGCTGACCACTGAGCACGGGCATC GCCAGCTACCGCTGCGCCCACTGAGGCTGACCACTGAGCACGGGCATCGC CAGCTACCGCTGCGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCA GCTACCGCTGCGCCCACTGAGGCTGACCACTGAGCGGGGGCATCACCACC TACCGCTGCGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTA CCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACC GCTGTGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCACCTACCGC TGCGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTG CGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCG CCCACTGGGGCTGACCACTGAGCAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0056 a0001c0006t0002g0056	1	152	0.0066	624	c.449 others(641): Show c.449+6779_449+6780insGTGCTCAGTGGTCAGCCCCAGTGGGCGC AGCGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCCCAGTGGGCGCAG CGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGCGCAGCG GTAGGTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGCACAGCGGT AGCTGGCGATGCCCGTGCTCAGTGGTCAGCCCCAGTGGGCGCAGCGGTAG CTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGCGCAGCGGTAGGT GGTGATGCCCCCGCTCAGTGGTCAGCCTCAGTGGGCGCAGCGGTAGCTGG CGATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGCGCAGCGGTAGCTGGCG ATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGCGCAGCGGTAGCTGGCGAT GCCCGTGCTCAGTGGTCAGCCTCAGTGGGCGCAGCGGTAGCTGGCGATGC CCGTGCTCAGTGGTCAGCCCCAGTGGGCGCAGCGGTAGCTGGCGATGCCC GTGCTCAGTGGTCAGCCCCAGTGGGCGCAGCGGTAGGTGGCGATGCCCGT GCTCAGTGGTCAGCCTCAGTGGGCGCAGCGGTAGGTGGTGATGCCC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VCX3B_chrX_8459830_8471510	8467125	G G	GGGGAGGG others(617): Show GGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGGTGGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGAGAGGTGTGTGGGAGGGAGGGAGGGAGGAAGAGGTG GTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGAAGAGGAGGTGTGTGAGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAAGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGAGGTGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0025 a0002c0002t0014g0025	1	201	0.0050	624	c.74 others(633): Show c.742_*743insGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGGTGTGGGGAGGGAGGGAGGGAGGAAGAG GAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGGTGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGAGAGGTGTGTGGGAGGGAGGGAG GGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGAGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAAGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		616		chrX	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(617): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGACAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	177	0.0056	624	c.53+ others(639): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGACAGACATATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTATC GATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATG TATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(617): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACAGAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0141 a0001c0001t0001g0146	2	178	0.0112	624	c.53+ others(639): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATG TATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(617): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCTATAGATAGACATATAGATGTATCTATCGATAGACAG ATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	177	0.0056	624	c.53+ others(639): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGA TGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATG TATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTA TCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(617): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT GCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTC CCTCCCTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCTCCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0256 a0001c0002t0004g0256	1	25	0.0400	624	c.483 others(639): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCT TCCTCCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC TTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTCCCTCCCTCC TCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
XG_chrX_2747040_2821500	2773790	A A	AGAAGGAA others(617): Show AGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGCGAA GGAAGGAAGGAGCGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAA GGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGG AAGGAGCGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAA GGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGG AGAGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAG AGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGCGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGCGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAA GGAAGGAGAGAAGGAAGGAAGGAGC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0008 a0001c0002t0008g0008	1	308	0.0032	624	c.104 others(639): Show c.104-864_104-863insGAGAAGGAAGGAAGGAGAGAAGGAAGGAAG GAGCGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGCGAAGGAAGGAAGGA GAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGA GAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGA AGGAAGGAAGGAGCGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAG GAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGA AGGAAGGAGAGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAGAAGGAAG GAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGA AGGAGAGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGCGAAGGAAGGAAG GAGCGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGA GAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGA GAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAGA AGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGA	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZMYND11_chr10_130455_259637	197194	C C	CGTGTGTG others(617): Show CGTGTGTGCCCACGTGCGCATTGTGTTCATGTATGTGTATCAATACATAC GCATGGAAGGTGGAGTGCTTTTAGTTCACGTGTGTGCCCACGTGCGCATT GTATTCATGTATGTGTATCAATACATACGCATGGAAGGTGGAGTGCTTTT AGTTCACGTGTGTGCCCACGTGCGCAATGTGTTCATGTATGTGTATCAAT ACATACGCATGGAAGGTGGCGTGCTTTTAGTTCACGTGTGTGCCCACGTG CACATTGTATTCATGTATGTGTATCAATACATACGCGTGGAAAGTGGAGT GCTTTTAGTTCACGTGTGTGCCCACGTGCGCATTGTGTTCATGTATGTGT ATCAATACATACGCATGGAAGGTGGAGTGCTTTTAGTTCACGTGTGTGCC CACGTGCGCATTGTATTCATGTATGTGTATCAATACATACGCATGGAAGG TGGAGTGCTTTTAGTTCACGTGTGTGCCCACGTGCGCAATGTGTTCATGT ATGTGTATCAATACATACGCATGGAAGGTGGCGTGCTTTTAGTTCACGTG TGTGCCCACGTGCACATTGTATTCATGTATGTGTATCAATACATACGCAT GGAAAGTGGAGTGCTTTTAGTTCAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG04115.hp2 HG03654.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0055 a0001c0001t0001g0061	2	51	0.0392	624	c.117 others(643): Show c.117-12618_117-12617insCGTGTGTGCCCACGTGCGCATTGTAT TCATGTATGTGTATCAATACATACGCATGGAAGGTGGAGTGCTTTTAGTT CACGTGTGTGCCCACGTGCGCAATGTGTTCATGTATGTGTATCAATACAT ACGCATGGAAGGTGGCGTGCTTTTAGTTCACGTGTGTGCCCACGTGCACA TTGTATTCATGTATGTGTATCAATACATACGCGTGGAAAGTGGAGTGCTT TTAGTTCACGTGTGTGCCCACGTGCGCATTGTGTTCATGTATGTGTATCA ATACATACGCATGGAAGGTGGAGTGCTTTTAGTTCACGTGTGTGCCCACG TGCGCATTGTATTCATGTATGTGTATCAATACATACGCATGGAAGGTGGA GTGCTTTTAGTTCACGTGTGTGCCCACGTGCGCAATGTGTTCATGTATGT GTATCAATACATACGCATGGAAGGTGGCGTGCTTTTAGTTCACGTGTGTG CCCACGTGCACATTGTATTCATGTATGTGTATCAATACATACGCATGGAA AGTGGAGTGCTTTTAGTTCATGTGTGTGCCCACGTGCGCATTGTGTTCAT GTATGTGTATCAATACATACGCATGGAAGGTGGAGTGCTTTTAGTTCA	ZMYND11	ENSG00000015171.21	transcript	ENST00000381604.9	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(617): Show CCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTC CCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTT CCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCTTCCCCT TCCTCCTCTCCTCCTCCCTCCCCTCCCCCTCTCCTCCTCCCTCCCCTCCC CCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCCTCCTCCCTCC CCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCCCTCCCCCT CCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCCCTCCCCTCCC CTCTCCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCC TTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCT CCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTC TCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCC CTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGT CCCTCCCCTCTCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	9	0.1111	624	c.4-1 others(637): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCC TCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTT CCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTCTCCTCCTC CCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACC CTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTC CCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCC CCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTC TTCCTCTCCCCTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCT TCCCCTCTCCTCCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTC CCCTTCCCTTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCT CCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTC CCCTCACCTGTCCCTCCCCTCTCCCCTTCCCCCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(617): Show CCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTC CCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTT CCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCT CCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCC CCCTTCCTCCTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCC CTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCC CCCTCCCCTCCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTC CCCGTCCCCTCCTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCCC TTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCT CCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTC TCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCC CTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGT CCCTCCCCTCTCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02717.hp2 HG02818.hp2 others(1): Show HG01884.hp1 HG02717.hp2 HG02818.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 others(1): Show a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094	4	12	0.3333	624	c.4-1 others(637): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCC TCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTT CCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCC CCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCTTCCCCTTCCTCCTCTCC TCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTTCCCTCCT CCCTCCCCTCCCCCTCCCCTCCCCTACCCTCCTCCCTCCCCTTCCCTCCT CCCTCCCCCTCCCCGTCCCCTCCTCCTCCCCCTCCCCCTCCTCCCTCCCC CTCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCT TCCCCTCTCCTCCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTC CCCTTCCCTTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCT CCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTC CCCTCACCTGTCCCTCCCCTCTCCCCTTCCCCCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATAATA others(617): Show GTATAATATACATGTATATATATACAAGTATATATATACTTGTATATATA TATACAAGTATATATATACTTGTATACATATATACTATATATATACATAT ATACACATATATACGTATATATATGTATATATACATATATACGTGTATAT ACGTATATACATGTATATACGTATATATACACATATATACATGTATATAT ACGTATATATACACATATATACGTGTATATATACGTATATATACACATAT ATACGTGTATATATACATGTATATATACACATATATACATGTATATATAT ACGTATATATACATGTATATATACGTACGTATATATACATGTATATATAC GTACGTATATATATACGTATATATACACATATATACATATATACGTATAT ATATATACGTATATATACATATATACGTGTATATATACGTATATATACAT ATATACGTATATATATACGTATATATACATATATACGTATATATATATAC GTATATATACATATATACATGTATATATATATACGTATATATACATATAT ACATGTATATATATACGTATATACACATATATATACATGTATATATATGT GTATATATACATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	183	0.0055	624	c.-42 others(635): Show c.-4232_-4231insTATAATATACATGTATATATATACAAGTATATAT ATACTTGTATATATATATACAAGTATATATATACTTGTATACATATATAC TATATATATACATATATACACATATATACGTATATATATGTATATATACA TATATACGTGTATATACGTATATACATGTATATACGTATATATACACATA TATACATGTATATATACGTATATATACACATATATACGTGTATATATACG TATATATACACATATATACGTGTATATATACATGTATATATACACATATA TACATGTATATATATACGTATATATACATGTATATATACGTACGTATATA TACATGTATATATACGTACGTATATATATACGTATATATACACATATATA CATATATACGTATATATATATACGTATATATACATATATACGTGTATATA TACGTATATATACATATATACGTATATATATACGTATATATACATATATA CGTATATATATATACGTATATATACATATATACATGTATATATATATACG TATATATACATATATACATGTATATATATACGTATATACACATATATATA CATGTATATATATGTGTATATATACATGTATATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(618): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATA TAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCA TATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	224	0.0045	625	c.-10 others(636): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATT TTTATATATGATATATAAATATAAATTTTTATATATGATATATAAATATA AATTTTTATATATGATATATAAATATAAATTTTTATATATGATATATAAA TATAAATTTTTATATATGATATATAAATATAAATTTTTATATGATATATA AATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATA TATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATTTAT GATATATAAATATAAATTTTTATTTATGATATATAAATATAAATTTTTAT ATATTTATGATATATAAATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADPRHL1_chr13_113394611_113458488	113418980	T T	TTCCCTCC others(618): Show TTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT TCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCC CTCCCTCCCTCCCTCCCTCTCTCCCTCCCTTCCTTTCTTCCCCTTCCCCT CCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCT CCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTT CTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCT CCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTC CCCTTCCCCTCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCCT TCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCTTCA CTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCT CCCTTCCCTTCCTTCTTTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0020 a0020	a0020c0033 a0020c0033	a0020c0033t0048 a0020c0033t0048	a0020c0033t0048g0089 a0020c0033t0048g0089	1	228	0.0044	625	c.106 others(644): Show c.1061+3845_1061+3846insGGGAAGGAAAAGAAGGAAGGGAAGGG AGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAG TGAAGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGA AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGA AGGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGAGGGGAAGGG GAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGG AGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAG AAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAGGGAGGG AGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAG GAAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGG AGGGGAAGGGGAAGAAAGGAAGGGAGGGAGAGAGGGAGGGAGGGAGGGAG GGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGA AGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ARSF_chrX_3036471_3117727	3037096	A A	ATTATATA others(618): Show ATTATATATAAAATATATATAATATATATATTATATATATTATATATAAA ATATATATAATATATAATATATATATTATATATAAAATATATATAATATA TATAATATATATATTATATATAAAATATATATAATATATATATTATATAT AAAATATATATAATATATATAATATATATAATATATATATTATATATAAA ATATATATAATATATATAATATATATAATATATATATTATATATAAAATA TATATAATATATATATTATATATAAAATATATATAATATATATAATATAT ATATTATATATAAAATATATATAATATATATATTATATATAAAATATATA TAATATATATAATATATATATTATATATAAAATATATATAATATATATAT TATATATAAAATTTATATATAAAATATATATAATATATAATATATATATT ATATATAAAATATATATAATATATATAATATATATAAAATATATATAATA TATATAATATATATATTATATATAAAATATATATAATATATATAATATAT ATATTATATATAAAATATATATCATATATATAATATATATATTATATATA AAATATATATCATATATATAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	184	0.0054	625	c.-45 others(636): Show c.-4596_-4595insTTATATATAAAATATATATAATATATATATTATA TATATTATATATAAAATATATATAATATATAATATATATATTATATATAA AATATATATAATATATATAATATATATATTATATATAAAATATATATAAT ATATATATTATATATAAAATATATATAATATATATAATATATATAATATA TATATTATATATAAAATATATATAATATATATAATATATATAATATATAT ATTATATATAAAATATATATAATATATATATTATATATAAAATATATATA ATATATATAATATATATATTATATATAAAATATATATAATATATATATTA TATATAAAATATATATAATATATATAATATATATATTATATATAAAATAT ATATAATATATATATTATATATAAAATTTATATATAAAATATATATAATA TATAATATATATATTATATATAAAATATATATAATATATATAATATATAT AAAATATATATAATATATATAATATATATATTATATATAAAATATATATA ATATATATAATATATATATTATATATAAAATATATATCATATATATAATA TATATATTATATATAAAATATATATCATATATATAATATAT	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding		4374		chrX	TogoVar
ARSH_chrX_3001546_3039111	3037096	A A	ATTATATA others(618): Show ATTATATATAAAATATATATAATATATATATTATATATATTATATATAAA ATATATATAATATATAATATATATATTATATATAAAATATATATAATATA TATAATATATATATTATATATAAAATATATATAATATATATATTATATAT AAAATATATATAATATATATAATATATATAATATATATATTATATATAAA ATATATATAATATATATAATATATATAATATATATATTATATATAAAATA TATATAATATATATATTATATATAAAATATATATAATATATATAATATAT ATATTATATATAAAATATATATAATATATATATTATATATAAAATATATA TAATATATATAATATATATATTATATATAAAATATATATAATATATATAT TATATATAAAATTTATATATAAAATATATATAATATATAATATATATATT ATATATAAAATATATATAATATATATAATATATATAAAATATATATAATA TATATAATATATATATTATATATAAAATATATATAATATATATAATATAT ATATTATATATAAAATATATATCATATATATAATATATATATTATATATA AAATATATATCATATATATAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0203 a0001c0007t0002g0203	1	238	0.0042	625	c.37 others(636): Show c.3711_*3712insTTATATATAAAATATATATAATATATATATTATA TATATTATATATAAAATATATATAATATATAATATATATATTATATATAA AATATATATAATATATATAATATATATATTATATATAAAATATATATAAT ATATATATTATATATAAAATATATATAATATATATAATATATATAATATA TATATTATATATAAAATATATATAATATATATAATATATATAATATATAT ATTATATATAAAATATATATAATATATATATTATATATAAAATATATATA ATATATATAATATATATATTATATATAAAATATATATAATATATATATTA TATATAAAATATATATAATATATATAATATATATATTATATATAAAATAT ATATAATATATATATTATATATAAAATTTATATATAAAATATATATAATA TATAATATATATATTATATATAAAATATATATAATATATATAATATATAT AAAATATATATAATATATATAATATATATATTATATATAAAATATATATA ATATATATAATATATATATTATATATAAAATATATATCATATATATAATA TATATATTATATATAAAATATATATCATATATATAATATAT	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2986		chrX	TogoVar
ATP9B_chr18_79064394_79383283	79172543	C C	CCCAAGGT others(618): Show CCCAAGGTGCTGTGATTACAGGCGTGAGCCACCGTGCGCCGACCTTGCGA TCCGCCTTGGCCTCCCAAGGTGCTGTGATTACAGGCGTAGCCACCGTGCC CCGCCCTTCCGATCCGCCTTGGCCTCCCAAGGTGCTGTGATTACAGGTGT GAGCCACCGTGCCCCGCCCTTGCGATCCGCCTTGGCCTCCCAAGGTGCTG TGATTACAGGCGTGAGCCACCGTGCCCCGCCCTTGCGATCCGCCTTGGCC TCCCAAGGTGCTGTGATTACAGGCGTAGCCACCGTGCGCCGACCTTGCGA TCCGCCTTGGCCTCCCAAGGTGCTGTGATTACAGGCGTAGCCACCGTGCC CCGCCCTTCCGATCCGCCTTGGCCTCCCAAGGTGCTGTGATTACAGGCGT GAGCCACCGTGCCCCGCCCTTGCGATCCGCCTTGGCCTCCCAAGGTGCTG TGATTACAGGCGTGAGCCACCGTGCCCCGCCCTTGCGATCCGCCTTGGCC TCCCAAGGTGCTGTGATTACAGGCGTAGCCACCGTGCCCCGCCCTTGCGA TCCGCCTTGGCCTCCCAAGGTGCTGTGATTACAGGCGTAGCCACCGTGCC CCGCCCTTGCGATCCGCCTTGGCCTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG04204.hp1 HG02109.hp2 HG04204.hp1	a0001 a0001	a0001c0038 a0001c0039 a0001c0038 a0001c0039	a0001c0038t0001 a0001c0039t0002 a0001c0038t0001 a0001c0039t0002	a0001c0038t0001g0265 a0001c0039t0002g0266 a0001c0038t0001g0265 a0001c0039t0002g0266	2	296	0.0068	625	c.779 others(642): Show c.779-4246_779-4245insGAGCCACCGTGCGCCGACCTTGCGATCC GCCTTGGCCTCCCAAGGTGCTGTGATTACAGGCGTAGCCACCGTGCCCCG CCCTTCCGATCCGCCTTGGCCTCCCAAGGTGCTGTGATTACAGGTGTGAG CCACCGTGCCCCGCCCTTGCGATCCGCCTTGGCCTCCCAAGGTGCTGTGA TTACAGGCGTGAGCCACCGTGCCCCGCCCTTGCGATCCGCCTTGGCCTCC CAAGGTGCTGTGATTACAGGCGTAGCCACCGTGCGCCGACCTTGCGATCC GCCTTGGCCTCCCAAGGTGCTGTGATTACAGGCGTAGCCACCGTGCCCCG CCCTTCCGATCCGCCTTGGCCTCCCAAGGTGCTGTGATTACAGGCGTGAG CCACCGTGCCCCGCCCTTGCGATCCGCCTTGGCCTCCCAAGGTGCTGTGA TTACAGGCGTGAGCCACCGTGCCCCGCCCTTGCGATCCGCCTTGGCCTCC CAAGGTGCTGTGATTACAGGCGTAGCCACCGTGCCCCGCCCTTGCGATCC GCCTTGGCCTCCCAAGGTGCTGTGATTACAGGCGTAGCCACCGTGCCCCG CCCTTGCGATCCGCCTTGGCCTGCCAAGGTGCTGTGATTACAGGCGT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(618): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGC AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGC CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCC GTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCCCCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	296	0.0034	625	c.36 others(636): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCA GCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCT GGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
B4GALNT3_chr12_454939_568509	545936	A A	AGAGGAGT others(618): Show AGAGGAGTGGGGAGGTGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGT GCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGAGA TGAGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGTGAGAGGAGTGGGGAG GTGCGAGGAGTGGGGAGATGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGA GGTGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGAGGTGAGGAGTGGGGAG GTGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGTGAGAGGAGTGGGGA GATGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGAGATGAGAGGAGTGGGG AGGTGCGAGGAGTGGGGAGATGAGAGGAGTGGGGAGGTGCGAGGAGTGGG GAGGTGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGAGGTGAGGAGTGGGG AGGTGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGTGAGAGGAGTGGG GAGGTGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGATGAGAGGAGTGG GGAGGTGAGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGTGCGAGGAGTG GGGAGGTGAGAGGAGTGGGGAGGTGC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0225 a0001c0001t0005g0225	1	385	0.0026	625	c.639 others(640): Show c.639+514_639+515insGTGCGAGGAGTGGGGAGGTGAGAGGAGTGG GGAGGTGCGAGGAGTGGGGAGATGAGAGGAGTGGGGAGGTGAGAGGAGTG GGGAGGTGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGAGATGAGAGGAGT GGGGAGGTGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGTGCGAGGAG TGGGGAGGTGAGGAGTGGGGAGGTGCGAGGAGTGGGGAGGTGAGAGGAGT GGGGAGGTGAGAGGAGTGGGGAGATGAGAGGAGTGGGGAGGTGCGAGGAG TGGGGAGATGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGAGATGAGAGGA GTGGGGAGGTGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGTGCGAGG AGTGGGGAGGTGAGGAGTGGGGAGGTGCGAGGAGTGGGGAGGTGAGAGGA GTGGGGAGGTGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGAGGTGAGAGG AGTGGGGAGATGAGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGTGAGAG GAGTGGGGAGGTGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGTGCGA GGAGTGGGGAGGTGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAG	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar

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