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
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(354): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG GGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	356	0.0028	361	c.91+ others(374): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGG GGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTC GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTT GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(354): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTG AGGGAGTCGGGGGGTGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0142 a0001c0004t0001g0142	1	356	0.0028	361	c.91+ others(374): Show c.91+431_91+432insTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGTG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOP14_chr4_2932936_2968406	2961219	T T	TAGTAACT others(354): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTA TATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATA TAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATA TTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAG TAACTATATTAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03471.hp1 NA18522.hp1 HG02559.hp2 HG03471.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0053 a0002c0002t0001g0308 a0002c0002t0001g0053 a0002c0002t0001g0308	3	422	0.0071	361	c.195 others(378): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTA TTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTT ACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTA ATATACTAACTATATTATTAATATAGTTATATATTAATATACTAACTATA TTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATA GTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATA TTAATATATACTAACTATATTAATATAGTTACT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NOS3_chr7_150986017_151019588	150995593	C C	CCCCCATC others(354): Show CCCCCATCCCACCCCTGCCCCCCCTCCCATCCCACCTCTAAACCCCTCCT CCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCCCTGTCCCCCTCTAAA CCCCTCCTCCCTGTCCCCCTCTAAACCCCACCTCCCTCTCCCCATCCCAC CCCTGCACCCTTCCTCCCTCTGCCCCCGTCCCACGCCTGTACTCCTCCTC CCTGTCCCCCTCTAAACCCCACCTCCCTCTCCCCATCCCACCCCTGCACC CCTCCTCCCTCTCCCCATCCCATCCCTGCACCCCTCCTCCCTCTGCCCCC GTCCCACCCCTAAACCCCTCCTCCCTCTGCCCCACCCCACCCTTGCACCC CTCCTCCCTCTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG02559.hp1 others(1): Show HG01256.hp2 HG01258.hp1 HG02559.hp1 NA20752.hp1	a0002 a0011 a0002 a0011	a0002c0003 a0011c0035 a0002c0003 a0011c0035	a0002c0003t0001 a0011c0035t0001 a0002c0003t0001 a0011c0035t0001	a0002c0003t0001g0318 a0002c0003t0001g0319 a0002c0003t0001g0320 others(1): Show a0002c0003t0001g0318 a0002c0003t0001g0319 a0002c0003t0001g0320 a0011c0035t0001g0068	4	382	0.0105	361	c.270 others(376): Show c.270+283_270+284insATCCCACCCCTGCCCCCCCTCCCATCCCAC CTCTAAACCCCTCCTCCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCC CTGTCCCCCTCTAAACCCCTCCTCCCTGTCCCCCTCTAAACCCCACCTCC CTCTCCCCATCCCACCCCTGCACCCTTCCTCCCTCTGCCCCCGTCCCACG CCTGTACTCCTCCTCCCTGTCCCCCTCTAAACCCCACCTCCCTCTCCCCA TCCCACCCCTGCACCCCTCCTCCCTCTCCCCATCCCATCCCTGCACCCCT CCTCCCTCTGCCCCCGTCCCACCCCTAAACCCCTCCTCCCTCTGCCCCAC CCCACCCTTGCACCCCTCCTCCCTCTTCCCC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
NOTCH1_chr9_136489433_136551048	136535464	C C	CGGGGAGC others(354): Show CGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGG AGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGTG GGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGAGTGCAGGGTGGG TGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0013 a0001c0003t0008g0013	1	324	0.0031	361	c.140 others(378): Show c.140+8559_140+8560insCCTCCACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCCCCACCCACCCTGCACCCATTG CCCCTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCCCACCCACCCTGCACCC ATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACC CATTGCCCCTGGGAGGGATCCTGAGTGCTCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRCAM_chr7_108142649_108461436	108163992	G G	GGGGTAAT others(354): Show GGGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATAC CGGGTGGGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTG AGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACTGGGTGGGG TGGGGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATA CTGGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTG AGAGGTCATACCAGGTGGGGTGGCGGTAATGAGAGGTCATACCGGGTGGG GTGGGGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCAT ACTGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0089 a0001c0003t0004g0089	1	208	0.0048	361	c.346 others(380): Show c.3466+2928_3466+2929insACCCCACCCAGTATGACCTCTCACTA CCCCACCCCACCTGGTATGACCTCTCATTACCCCACCCCACCCGGTATGA CCTCTCATTACCGCCACCCCACCTGGTATGACCTCTCACTACCCCACCCC ACCCGGTATGACCTCTCATTACCCCACCCCACCCAGTATGACCTCTCACT ACCCCACCCCACCTGGTATGACCTCTCATTACCCCACCCCACCCAGTATG ACCTCTCACTACCCCACCCCACCTGGTATGACCTCTCACTACCCCACCCC ACCCGGTATGACCTCTCATTACCGCCACCCCACCCGGTATGACCTCTCAT TACCCCACCCCACCCGGTATGACCTCTCATTACCC	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NSMCE1_chr16_27219994_27273772	27246963	T T	TAAAACTC others(354): Show TAAAACTCCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCT GGCTAACACGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCAGTCCAG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAACAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03486.hp2 NA21309.hp2 HG02723.hp2 HG03486.hp2 NA21309.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0141 a0003c0004t0001g0144 a0003c0004t0001g0147 a0003c0004t0001g0141 a0003c0004t0001g0144 a0003c0004t0001g0147	3	334	0.0090	361	c.136 others(380): Show c.136+10471_136+10472insTTTTTTTGTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGG CGCGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCC CGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTAGGAGTTTT	NSMCE1	ENSG00000169189.17	transcript	ENST00000361439.9	protein_coding	2/7			chr16	TogoVar
NSMCE2_chr8_125086860_125372120	125327684	T T	TAAAAGTA others(354): Show TAAAAGTAAGATTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGTAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGTCCAG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02976.hp1 HG00741.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0230 a0001c0001t0001g0073 a0001c0001t0001g0230	2	244	0.0082	361	c.419 others(380): Show c.419-29521_419-29520insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGTAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAG CGAGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAGTAAGATTTC	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
NTSR1_chr20_62703836_62767771	62755580	T T	TCCATCCT others(354): Show TCCATCCTCCCTCCCTCCATCATCCCTCCCTCCCTCCATCCCTCATTCCA TCCCTCCCTCCCTCCCTCCATCCCTCCCTTCATCTATCCTCCCTCCCTCC CTCCCTCCATCCCTCATTCCATCCCTCCCTCTCTCCCTCCCTCCATCCAT CCTCCCTCCCTCCATCACTCCCTCCCTCCATCCATCCTCCCTCCCTCCAT CCATCATCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCCCTCCC TCCATCCATCATCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCC CTCCCTCCCTCCATCCATCATCCCTCCCTCCCTCCATCCCTCATTCCATC CCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp2 HG02027.hp1 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0149 a0001c0001t0001g0138 a0001c0001t0001g0149	2	316	0.0063	361	c.916 others(376): Show c.916+696_916+697insATCCTCCCTCCCTCCATCATCCCTCCCTCC CTCCATCCCTCATTCCATCCCTCCCTCCCTCCCTCCATCCCTCCCTTCAT CTATCCTCCCTCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCTC TCCCTCCCTCCATCCATCCTCCCTCCCTCCATCACTCCCTCCCTCCATCC ATCCTCCCTCCCTCCATCCATCATCCCTCCCTCCCTCCATCCCTCATTCC ATCCCTCCCTCCCTCCCTCCATCCATCATCCCTCCCTCCCTCCATCCCTC ATTCCATCCCTCCCTCCCTCCCTCCCTCCATCCATCATCCCTCCCTCCCT CCATCCCTCATTCCATCCCTCCCTCCCTCCC	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(354): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCT GCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA19063.hp2 NA18939.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	2	438	0.0046	361	c.-29 others(376): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAATAAT AATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(354): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCT GCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0101 a0002c0002t0003g0101	1	438	0.0023	361	c.-29 others(376): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAATAAT AATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(354): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCT GCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19082.hp2 HG02976.hp2 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0003 a0001c0001t0003 a0002c0002t0003	a0001c0001t0003g0078 a0002c0002t0003g0099 a0001c0001t0003g0078 a0002c0002t0003g0099	2	438	0.0046	361	c.-29 others(376): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAAT AATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(354): Show ACTGAATGTACATTATTATTATTATTATTATTATTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCT GCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	438	0.0023	361	c.-29 others(376): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT AATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OSBPL5_chr11_3082107_3170310	3097061	A A	AAGAGGGG others(354): Show AAGAGGGGGAAGATGGAAAGGGGAGGAGAGGAAGGAGGGGGAAGATGGGA GGAGGAGAAGAGGAAAGGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGG AAGACGGGAGGAGGAGAGGAAAGAGGGGGAAGACGGGAGAAGGAGAGGAA AGAGGGGGAAGACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAG GAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGAGAAAAGAGGGGGAA GATGGGAGGGGGAGGAGAGGAAAGAGGGGGAAGACGGGAAGAGGAGAGGA AAGGGGGAAGACGGGAGGAGGAGGACAGGAAAGAGGGGGAAGATGGGAGG AGAAGAGGAAAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0050 a0001c0002t0010g0050	1	326	0.0031	361	c.162 others(380): Show c.1622-2728_1622-2727insCTTTCCTCTTCTCCTCCCATCTTCCC CCTCTTTCCTGTCCTCCTCCTCCCGTCTTCCCCCTTTCCTCTCCTCTTCC CGTCTTCCCCCTCTTTCCTCTCCTCCCCCTCCCATCTTCCCCCTCTTTTC TCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTCCCATCTTCCCC CTCTTTCCTCTCCTCCTCCTCCCGTCTTCCCCCTCTTTCCTCTCCTTCTC CCGTCTTCCCCCTCTTTCCTCTCCTCCTCCCGTCTTCCCCCCTTTCCTCT CCTCCTCCCATCTTCCCCCCTTTCCTCTTCTCCTCCTCCCATCTTCCCCC TCCTTCCTCTCCTCCCCTTTCCATCTTCCCCCTCT	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	14/21			chr11	TogoVar
OSBPL5_chr11_3082107_3170310	3097061	A A	AAGAGGGG others(354): Show AAGAGGGGGAAGATGGAAAGGGGAGGAGAGGAAGGAGGGGGAAGATGGGA GGAGGAGAAGAGGAAAGGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGG AAGATGGGAGGAGGAGAGGAAAGAGGGGGAAGACGGGAGAAGGAGAGGAA AGAGGGGGAAGACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAG GAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGAGAAAAGAGGGGGAA GATGGGAGGGGGAGGAGAGGAAAGAGGGGGAAGACGGGAAGAGGAGAGGA AAGGGGGAAGACGGGAGGAGGAGGACAGGAAAGAGGGGGAAGATGGGAGG AGAAGAGGAAAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0119 a0001c0002t0023g0119	1	326	0.0031	361	c.162 others(380): Show c.1622-2728_1622-2727insCTTTCCTCTTCTCCTCCCATCTTCCC CCTCTTTCCTGTCCTCCTCCTCCCGTCTTCCCCCTTTCCTCTCCTCTTCC CGTCTTCCCCCTCTTTCCTCTCCTCCCCCTCCCATCTTCCCCCTCTTTTC TCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTCCCATCTTCCCC CTCTTTCCTCTCCTCCTCCTCCCGTCTTCCCCCTCTTTCCTCTCCTTCTC CCGTCTTCCCCCTCTTTCCTCTCCTCCTCCCATCTTCCCCCCTTTCCTCT CCTCCTCCCATCTTCCCCCCTTTCCTCTTCTCCTCCTCCCATCTTCCCCC TCCTTCCTCTCCTCCCCTTTCCATCTTCCCCCTCT	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	14/21			chr11	TogoVar
PAM16_chr16_4335251_4356321	4344609	A A	AGAGGAGG others(354): Show AGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGACTG TGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGTG ACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGA GGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAG AGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGAGGGGGTTCTG TGAGAGAAGGGGACTGTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGT TCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGG GGATTGTGTGAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02647.hp1 HG03225.hp2 HG02630.hp1 HG02647.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	3	367	0.0082	361	c.4-1 others(374): Show c.4-1319_4-1318insCTCACACAATCCCCTCCTCTCACGGAACCCCC TCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACGGAAC CCCCTCCTCTCACACAGTCCCCTTCTCTCACAGAACCCCCTCCTCTCACA CAATCCCCTCCTCTCACGGAACCCCCTCCTCTCACAGAACCCCCTCCTCT CACAGAACCCCCTCCTCTCACACAGTCCCCTCCTCTCACAGAACCCCCTC CTCTCACAGAACCCCCTCCTCTCACACAGTCACCTCCTCTCACGGAACCC CCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTCCTCTCACGGA ACCCCCTCCTCTCACAGAACCCCCTCCTC	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PCBP3_chr21_45638725_45947450	45927331	T T	TCCTCCCC others(354): Show TCCTCCCCTCCTGCCCTCCTCTCCTTCACTCTGCCTCCTCCCTCCCCTCC TCTCCTCTCCCTCCCTCTCCCCCTCCTCCCTCCTCTCTCCTCTCCCTCCC TCCCTCTCCCCCTACTTCCTCCCCTCCTGCCCTCCTCTCCCTCCCCTCCT GTCCCTCCCTCCCCTCCTGTCCCTCCCTCCCCTCCTGTCCCTCCCTCCCC TCCTGCCTTCCTCTTCCTCCCTCTCCCTCCCTCTCCCCCTCCTCCCTCCT CTCCTCTCTCCCCTCCCTCCCTCTCCCCCTCCTCCCTCCTCTCCTCTCCC CTCCCTCACTCTCCCCCTCCTCCCTCCTCTCCTCTCTCCCCTCCCTCACT CTCCCCCTCCTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(219): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18946.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0002c0006 a0003c0005 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0002t0001 a0001c0002t0009 a0001c0004t0002 a0002c0006t0001 a0003c0005t0001 a0004c0007t0001	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 others(219): Show a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0034 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0107 a0001c0001t0002g0209 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0287 a0001c0001t0003g0008 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0048 a0001c0001t0003g0056 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0090 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0098 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0112 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0005g0260 a0001c0001t0005g0261 a0001c0001t0005g0273 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0286 a0001c0001t0005g0292 a0001c0001t0007g0234 a0001c0001t0007g0238 a0001c0001t0007g0243 a0001c0001t0007g0244 a0001c0001t0007g0258 a0001c0001t0008g0024 a0001c0001t0008g0025 a0001c0001t0008g0113 a0001c0001t0009g0009 a0001c0001t0013g0180 a0001c0001t0013g0182 a0001c0001t0018g0266 a0001c0001t0021g0085 a0001c0001t0022g0216 a0001c0001t0023g0111 a0001c0001t0024g0236 a0001c0002t0001g0142 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0150 a0001c0002t0001g0152 a0001c0002t0009g0215 a0001c0002t0009g0285 a0001c0004t0002g0086 a0001c0004t0002g0087 a0002c0006t0001g0174 a0003c0005t0001g0177 a0004c0007t0001g0137	222	292	0.7603	361	c.718 others(378): Show c.718-2575_718-2574insGCCCTCCTCTCCTTCACTCTGCCTCCTC CCTCCCCTCCTCTCCTCTCCCTCCCTCTCCCCCTCCTCCCTCCTCTCTCC TCTCCCTCCCTCCCTCTCCCCCTACTTCCTCCCCTCCTGCCCTCCTCTCC CTCCCCTCCTGTCCCTCCCTCCCCTCCTGTCCCTCCCTCCCCTCCTGTCC CTCCCTCCCCTCCTGCCTTCCTCTTCCTCCCTCTCCCTCCCTCTCCCCCT CCTCCCTCCTCTCCTCTCTCCCCTCCCTCCCTCTCCCCCTCCTCCCTCCT CTCCTCTCCCCTCCCTCACTCTCCCCCTCCTCCCTCCTCTCCTCTCTCCC CTCCCTCACTCTCCCCCTCCTCCCTCCCCTCCT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45927331	T T	TCCTCCCC others(354): Show TCCTCCCCTCCTGCCCTCCTCTCCTTCACTCTGCCTCCTCCCTCCCCTCC TCTCCTCTCCCTCCCTCTCCCCCTCCTTCCTCCTCTCTCCTCTCCCTCCC TCCCTCTCCCCCTACTTCCTCCCCTCCTGCCCTCCTCTCCCTCCCCTCCT GTCCCTCCCTCCCCTCCTGTCCCTCCCTCCCCTCCTGTCCCTCCCTCCCC TCCTGCCTTCCTCTTCCTCCCTCTCCCTCCCTCTCCCCCTCCTCCCTCCT CTCCTCTCTCCCCTCCCTCCCTCTCCCCCTCCTCCCTCCTCTCCTCTCCC CTCCCTCACTCTCCCCCTCCTCCCTCCTCTCCTCTCTCCCCTCCCTCACT CTCCCCCTCCTC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	292	0.0034	361	c.718 others(378): Show c.718-2575_718-2574insGCCCTCCTCTCCTTCACTCTGCCTCCTC CCTCCCCTCCTCTCCTCTCCCTCCCTCTCCCCCTCCTTCCTCCTCTCTCC TCTCCCTCCCTCCCTCTCCCCCTACTTCCTCCCCTCCTGCCCTCCTCTCC CTCCCCTCCTGTCCCTCCCTCCCCTCCTGTCCCTCCCTCCCCTCCTGTCC CTCCCTCCCCTCCTGCCTTCCTCTTCCTCCCTCTCCCTCCCTCTCCCCCT CCTCCCTCCTCTCCTCTCTCCCCTCCCTCCCTCTCCCCCTCCTCCCTCCT CTCCTCTCCCCTCCCTCACTCTCCCCCTCCTCCCTCCTCTCCTCTCTCCC CTCCCTCACTCTCCCCCTCCTCCCTCCCCTCCT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45927331	T T	TCCTCCCC others(354): Show TCCTCCCCTCCTGCCCTCCTCTCCTTCACTCTGCCTCTTCCCTCCCCTCC TCTCCTCTCCCTCCCTCTCCCCCTCCTCCCTCCTCTCTCCTCTCCCTCCC TCCCTCTCCCCCTACTTCCTCCCCTCCTGCCCTCCTCTCCCTCCCCTCCT GTCCCTCCCTCCCCTCCTGTCCCTCCCTCCCCTCCTGTCCCTCCCTCCCC TCCTGCCTTCCTCTTCCTCCCTCTCCCTCCCTCTCCCCCTCCTCCCTCCT CTCCTCTCTCCCCTCCCTCCCTCTCCCCCTCCTCCCTCCTCTCCTCTCCC CTCCCTCACTCTCCCCCTCCTCCCTCCTCTCCTCTCTCCCCTCCCTCACT CTCCCCCTCCTC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	292	0.0034	361	c.718 others(378): Show c.718-2575_718-2574insGCCCTCCTCTCCTTCACTCTGCCTCTTC CCTCCCCTCCTCTCCTCTCCCTCCCTCTCCCCCTCCTCCCTCCTCTCTCC TCTCCCTCCCTCCCTCTCCCCCTACTTCCTCCCCTCCTGCCCTCCTCTCC CTCCCCTCCTGTCCCTCCCTCCCCTCCTGTCCCTCCCTCCCCTCCTGTCC CTCCCTCCCCTCCTGCCTTCCTCTTCCTCCCTCTCCCTCCCTCTCCCCCT CCTCCCTCCTCTCCTCTCTCCCCTCCCTCCCTCTCCCCCTCCTCCCTCCT CTCCTCTCCCCTCCCTCACTCTCCCCCTCCTCCCTCCTCTCCTCTCTCCC CTCCCTCACTCTCCCCCTCCTCCCTCCCCTCCT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741151	G G	GGCGGGGG others(354): Show GGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGG GGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCT CGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCG GGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGG CTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTC GCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCT CGCGGGGGGCTC	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0078 a0001c0002t0003g0078	1	358	0.0028	361	c.143 others(376): Show c.143-497_143-496insCTCGCGGGGGGCTCGCGGGGGGCTGGCGGG GGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCT CGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCG GGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGG CTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTC GCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCT CGCGGGGGGCTCGCGGGGGGCTCGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PEX10_chr1_2398974_2417564	2401381	C C	CTCCCTCC others(354): Show CTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTTCCTCCTCCCTCCTTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCT CCCTTCTTCCTCCTCCTCCCTCCTCCCCCTCCCTCCTTCCTCCCTCCTCC TCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCT CCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCC CCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTC CTCCTTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCCTC CTCCTCCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0095 a0001c0002t0001g0095	1	358	0.0028	361	c.43 others(372): Show c.4384_*4385insAGGAGGGAGGAGGAGGGAGGGAGGAAGGAGGGAG GAGGAGGGAGGAAGGAGGGAGGAAGGAGGAGGGAGGAAGGAGGAGGGAGG GAGGAGGAGGGAGGAAGGAGGGAGGAGGGGGGAGGAGGGAGGGAGGAGGG GGAGGGAGGAGGGGGAGGAGGGAGGAGGAGGAAGAAGGGAGGAGGAGGGA GGAAGAAGGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAAGGAGGGAG GGGGAGGAGGGAGGAGGAGGAAGAAGGGAGGAGGAGGGAGGAAGAAGGGA GGAGGGAGGAGGAGGGAGGAGGAGGGAGGAAGGAGGGAGGAGGAAGGAGG GAGGAAGGAGGGAGGAGGAGGGAGGGA	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2592		chr1	TogoVar
PHF21B_chr22_44876162_45015005	44898951	T T	TCTATTTG others(354): Show TCTATTTGGGTCTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTGGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTTTTTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0033 a0001c0017t0033	a0001c0017t0033g0108 a0001c0017t0033g0108	1	300	0.0033	361	c.832 others(378): Show c.832-2869_832-2868insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAAAAAAA ATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTT GCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAGAAATAGACCCAAATAG	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	5/12			chr22	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(354): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGT CTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGT GTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGT ATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGT GTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGT GTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTCTGGCT AGCCTGGCACCG	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18987.hp1 NA18998.hp1 others(1): Show HG02735.hp2 NA18987.hp1 NA18998.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0253 a0001c0002t0002g0007 a0001c0002t0002g0253	4	408	0.0098	361	c.-10 others(378): Show c.-10+1024_-10+1025insTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGT GTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGT GTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTG GTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTC TGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGT GTGTCTGGCTAGCCTGGCACCGTGGCTAGCCTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(354): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGT CTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGT GTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGT ATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGT GTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGT GTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTCTGGCT AGCCTGGCACCG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(67): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG01081.hp2 HG01109.hp2 HG01943.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02083.hp2 HG02129.hp2 HG02300.hp2 HG02602.hp1 HG02738.hp2 HG02818.hp1 HG03225.hp1 HG03669.hp1 HG03704.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18944.hp2 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18956.hp1 NA18959.hp1 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18983.hp1 NA18984.hp1 NA18997.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp2 NA19068.hp1 NA19068.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19087.hp1 NA19090.hp1 NA19091.hp1	a0001 a0004 a0015 a0001 a0004 a0015	a0001c0002 a0001c0022 a0004c0005 others(1): Show a0001c0002 a0001c0022 a0004c0005 a0015c0028	a0001c0002t0002 a0001c0022t0002 a0004c0005t0002 others(1): Show a0001c0002t0002 a0001c0022t0002 a0004c0005t0002 a0015c0028t0002	a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0003 others(41): Show a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0006 a0001c0002t0002g0008 a0001c0002t0002g0010 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0037 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0268 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0288 a0001c0002t0002g0290 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0318 a0001c0022t0002g0282 a0004c0005t0002g0001 a0004c0005t0002g0273 a0004c0005t0002g0274 a0015c0028t0002g0030	70	408	0.1716	361	c.-10 others(378): Show c.-10+1024_-10+1025insTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGT GTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGT GTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTG GTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTC TGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGT GTGTCTGGCTAGCCTGGCACCGTGGCTAGCCTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(354): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAA AGGAAGGAAAGA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0126 a0002c0004t0003g0126	1	134	0.0075	361	c.575 others(382): Show c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTC CTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCC CTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(354): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAA AGGAAGGAAAGA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	134	0.0075	361	c.575 others(382): Show c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTC CTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCC CTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(354): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGA AGGAAAGAAGGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0005 a0005	a0005c0040 a0005c0040	a0005c0040t0001 a0005c0040t0001	a0005c0040t0001g0029 a0005c0040t0001g0029	1	134	0.0075	361	c.575 others(382): Show c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTC CTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCC CTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(354): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAAAGGA AGGAAAGAAGGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0006 a0006	a0006c0078 a0006c0078	a0006c0078t0005 a0006c0078t0005	a0006c0078t0005g0104 a0006c0078t0005g0104	1	134	0.0075	361	c.575 others(382): Show c.5751+20407_5751+20408insTCCTTCTTTCCTTCCTTTCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTC CTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCC CTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(354): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA AAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAA AGGAAGGAAAGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0005 a0005	a0005c0038 a0005c0038	a0005c0038t0001 a0005c0038t0001	a0005c0038t0001g0034 a0005c0038t0001g0034	1	134	0.0075	361	c.575 others(382): Show c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTC CTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCC CTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(354): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA AGGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAA AGGAAGGAAAGA	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19240.hp2 HG03516.hp2 NA19240.hp2	a0003 a0004 a0003 a0004	a0003c0013 a0004c0006 a0003c0013 a0004c0006	a0003c0013t0001 a0004c0006t0002 a0003c0013t0001 a0004c0006t0002	a0003c0013t0001g0054 a0004c0006t0002g0055 a0003c0013t0001g0054 a0004c0006t0002g0055	2	134	0.0149	361	c.575 others(382): Show c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCC CTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(354): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAG GAAGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAA GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGA AGGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAA AGGAAGGAAAGA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0025 a0003c0012t0001g0025	1	134	0.0075	361	c.575 others(382): Show c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCTCC CTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989901	G G	GAGGAAGG others(354): Show GAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGAAG GAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAG GAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGAAGGA AGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAA GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA AGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGAA AGGAAGGAAAGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03516.hp1 HG02280.hp2 HG03516.hp1	a0011 a0040 a0011 a0040	a0011c0017 a0040c0058 a0011c0017 a0040c0058	a0011c0017t0005 a0040c0058t0001 a0011c0017t0005 a0040c0058t0001	a0011c0017t0005g0071 a0040c0058t0001g0070 a0011c0017t0005g0071 a0040c0058t0001g0070	2	134	0.0149	361	c.575 others(382): Show c.5751+20407_5751+20408insTCTTTCCTTCCTTTCTTCCTTCCT TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT TCTTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTC CTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTC CTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989903	G G	GGAAGGAA others(354): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGA AGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAG AAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0043 a0003c0007t0001g0043	1	134	0.0075	361	c.575 others(382): Show c.5751+20405_5751+20406insTTTCCTTCCTTTCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTC CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT TCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCT CCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51989903	G G	GGAAGGAA others(354): Show GGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGAGGGAAGGAAGGA AGGAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGA AGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGAAGGAAG GAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAG GAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAG AAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0029 a0029	a0029c0057 a0029c0057	a0029c0057t0013 a0029c0057t0013	a0029c0057t0013g0067 a0029c0057t0013g0067	1	134	0.0075	361	c.575 others(382): Show c.5751+20405_5751+20406insTTTCCTTCCTTTCTTCCTTCCTTC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC CTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCT TCCTTCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCTTCCTTCCTTCCC TCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKP3_chr11_389209_409908	401785	G G	GCCCGCTC others(354): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACAC CCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCG GCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACC CGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCT CACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACAC CCGGCCCCGCTC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0159 a0001c0003t0001g0159	1	216	0.0046	361	c.173 others(380): Show c.1737+1080_1737+1081insCCCGCTCACACCCGCCCCGCTCACCC CCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCG CCCCGCTCACACCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCC GCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTC ACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACA CCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCG GCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCC GCTCACACCCGCCCCGCTCACACCCGGCCCCGCTC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PKP3_chr11_389209_409908	402469	C C	CCCCCGGC others(354): Show CCCCCGGCCCCCGCTCACCCCCGACCCACTCACACCCGGCCCCGCTCACC CCCGCCCCGCTCACCCCCGACCCGCTCACACCCGGCCCCGCTCACCCCGG CCCCGCTCACACCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCC GCTCACCCCGGCCCCGCTCACCCCAGCCCCGCTCACACCCGCCCCGCTCA CCCGGGACCCCGCTCACACCCGCCCCGCTCACCCCGGACCCCGCTCACCC CCGGCCCCGCTCACCCCGACCCCGCTCACCCCGGACCCCCGGCCCCGCTC ACCCCCGACCCCCGACCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCC GCTGACCCCCGA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0145 a0001c0002t0001g0145	1	216	0.0046	361	c.173 others(378): Show c.1738-606_1738-605insCGGCCCCCGCTCACCCCCGACCCACTCA CACCCGGCCCCGCTCACCCCCGCCCCGCTCACCCCCGACCCGCTCACACC CGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCGGAC CCCGCTCACCCCCGACCCGCTCACCCCGGCCCCGCTCACCCCAGCCCCGC TCACACCCGCCCCGCTCACCCGGGACCCCGCTCACACCCGCCCCGCTCAC CCCGGACCCCGCTCACCCCCGGCCCCGCTCACCCCGACCCCGCTCACCCC GGACCCCCGGCCCCGCTCACCCCCGACCCCCGACCCCGCTCACACCCGCC CCGCTCACCCCCGGCCCCGCTGACCCCCGACCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(354): Show TTCAGTAAAGTTTTTTGTTTTTTTTTGTTTTTTTTTTTTGTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCG GGACTGAGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACC GCGCCCGGCCAC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	294	0.0034	361	c.550 others(378): Show c.550-7422_550-7421insGTGGCCGGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAA AAAAAAACAAAAAAAAACAAAAAACTTTACTGA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5			chr5	TogoVar
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(354): Show TTCAGTAAAGTTTTTTGTTTTTTTTTGTTTTTTTTTTTTTTTTTGTTTGT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCG GGACTGAGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACC GCGCCCGGCCAC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	294	0.0034	361	c.550 others(378): Show c.550-7422_550-7421insGTGGCCGGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAACAAACAAAAAAAAAA AAAAAAACAAAAAAAAACAAAAAACTTTACTGA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5			chr5	TogoVar
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(354): Show TTCAGTAAAGTTTTTTGTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCG GGACTGAGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACC GCGCCCGGCCAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG03491.hp1 NA18941.hp2 HG00423.hp2 HG03491.hp1 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0150 a0001c0001t0001g0167 a0001c0001t0001g0171	3	294	0.0102	361	c.550 others(378): Show c.550-7422_550-7421insGTGGCCGGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAACAAAAAAAAACAAAAAACTTTACTGA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5			chr5	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGAC others(354): Show GGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGGG AGGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGAG GAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGGG AGCGGCGGGCGGGGCGGGGAGGAGGGGGAGGGAGGGGGAGGGGAGGAGGG GGGGAGGGGAGGGGAGGAAGGGGGGGACGGCAGCGGCGGGCAGGGGAGCA GCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCGGGGAGGGGAGGAGG GAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGGGGGAGGGGAGGAGG AGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	354	0.0028	361	c.-27 others(370): Show c.-277_-276insTCCCCTCCCCCTCCTCCTCCCCTCCCCCCTCTCCCC TCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCTAAC CCTCCCCTCCTCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCGT CCCCCCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCCCTCCCCCTCCCTCC CCCTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCC CCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCTCCCCGCCCCTCC CCTCCTCCCCTCTCCCCTGCTGCCCTCCCCTCCCCGCCCCGCCCGCCGCT CCCCTGCCCGCCGCTGCCGTCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(354): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGA GGAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGG GAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGGGGAGGGGAGGAGGG GGGGAGGGGAGGGGAGGAAGGGGGGGACGGCAGCGGCGGGCAGGGGAGCA GCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCGGGGAGGGGAGGAGG GAGGGGGAGGGGAGGAGGGGCGGGAGGGGAGAGGGGGGAGGGGAGGAGGG AGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	354	0.0028	361	c.-27 others(370): Show c.-277_-276insTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCTCCC CTCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCTAAC CCTCCCCTCCTCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCGT CCCCCCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCCCTCCCCCTCCCTCC CCTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCC CTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCTCCCCGCCCCTCCC CTCCTCCCCTCTCCCCTGCTGCCCTCCCCTCCCCGCCCCGCCCGCCGCTC CCCTGCCCGCCGCTGCCGTCCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(354): Show TTTATATATAATATATAATATATATTTATATAAAAATATATAATATATAT TTATATAAAAATATATTATATATAATATAATTTATATAATATATTATATA TAATATATATAATATATTATATATATTATATATAATATATTATATATAAT ATATATAATATATTATATATAATATATATAATATATTATATATAATATAT TATATATATTATATTATATATATTATATATAATATATTATATATATTATA TTATATATAATATATTATATATATTATATTATATATAATATATTATATAT ATTATATTATATATAATATATTATATATATTATATTATATATAATATATT ATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	286	0.0035	361	c.-50 others(372): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATAATATAATATATATAATATATTATATATAA TATAATATATATAATATATTATATATAATATAATATATATAATATATTAT ATATAATATATATAATATAATATATATAATATATTATATATAATATATTA TATATATTATATATAATATATTATATATATTATATATAATATATTATATA TAATATATATAATATATTATATATATTATATATAATATATTATATAAATT ATATTATATATAATATATTTTTATATAAATATATATTATATATTTTTATA TAAATATATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PRPF31_chr19_54110754_54136713	54133769	C C	CTCTTCCT others(354): Show CTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTC CCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCC CTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTC CACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTT CCTCCCTCTCCACCTTCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTC TCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTG TCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCT CCCCTCTCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	227	0.0044	361	c.23 others(372): Show c.2337_*2338insTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCC CTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGT CTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCT GTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACC TCCCCTCTCTCTCTTCCTCCCTCTCCACCTTCCCTCTCTCTCTCCCTCCC TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCA CCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCC TCCCTCTCTCCACCTCCCCTCTCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2057		chr19	TogoVar
PTPRT_chr20_42067756_43194906	42993453	T T	TACACACA others(354): Show TACACACATATATATATGTGTATATATATATACATACACATATATATGTG TATGTATATATATATACACATATATGTGTGTGTGTATATATATATACACA TATATATGTGTGTGTATATATATATACACATATATATAGTGTGTGTATAT ATATACATATATTTGTGTATATATATACATATATGTGTGTGTATATATAT ACATATATGTGTGTGTGTATATATACATATGTGTGTGTATATATACATAT ATATGTGTGTGTATATATACACATATATGTGTGTGTATATATACATATAT GTGTATATATATACACATATATGTATATATACACACACATATATGTGTAT ATATACACACAC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0025 a0002c0001t0025	a0002c0001t0025g0002 a0002c0001t0025g0002	1	62	0.0161	361	c.89- others(380): Show c.89-107522_89-107521insGTGTGTGTATATATACACATATATGT GTGTGTATATATACATATATGTGTATATATATACACATATATGTATATAT ACACACACATATATGTGTATATATACACACACATATATATGTATATATAC ACACACATATGTATATATACACACACACATATATGTATATATATACACAC ACATATATGTATATATATACACAAATATATGTATATATATACACACACTA TATATATGTGTATATATATATACACACACATATATATGTGTATATATATA TACACACACACATATATGTGTATATATATATACATACACATATATATGTG TATGTATATATATATACACATATATATATGTGTGT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
RAB11FIP3_chr16_420649_528011	468230	G G	GGGAGGAG others(354): Show GGGAGGAGATGCTGGGACGTCAGGGAGGAGGTCCTTGGGCGTCAGGGAGG AGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGC TGGGGCGTCAGGGAGGAGGTGCTGGGGCATCAGGGAGGAGGTGCTGGGGC GTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTC AGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAG GAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAG GTGCTGGGGCATCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAG GGGCGTCAGGGA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0141 a0001c0002t0002g0141	1	295	0.0034	361	c.809 others(378): Show c.809-3058_809-3057insATGCTGGGACGTCAGGGAGGAGGTCCTT GGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGT CAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCATCAGGGA GGAGGTGCTGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGA GGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCA GGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGG GCGTCAGGGAGGAGGTGCTGGGGCATCAGGGAGGAGGTGCTGGGGCGTCA GGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	468230	G G	GGGAGGAG others(354): Show GGGAGGAGATGCTGGGACGTCAGGGAGGAGGTCCTTGGGCGTCAGGGAGG AGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGC TGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGC GTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTC AGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAG GAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAG GTGCTGGGGCATCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAG GGGCGTCAGGGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00423.hp2 others(38): Show HG00140.hp2 HG00408.hp1 HG00423.hp2 HG01109.hp1 HG01167.hp2 HG01175.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01496.hp2 HG01891.hp2 HG01978.hp2 HG01981.hp2 HG02055.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02895.hp2 HG02896.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03927.hp1 NA18949.hp1 NA18981.hp1 NA19077.hp1 NA19079.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0019 others(2): Show a0001c0001 a0001c0002 a0001c0019 a0003c0005 a0007c0016	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(15): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0024 a0001c0001t0033 a0001c0001t0041 a0001c0001t0056 a0001c0001t0060 a0001c0002t0002 a0001c0002t0016 a0001c0002t0030 a0001c0019t0002 a0003c0005t0014 a0007c0016t0002	a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0008 others(38): Show a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0005g0007 a0001c0001t0006g0151 a0001c0001t0010g0004 a0001c0001t0014g0143 a0001c0001t0014g0177 a0001c0001t0015g0122 a0001c0001t0015g0123 a0001c0001t0015g0127 a0001c0001t0015g0184 a0001c0001t0016g0003 a0001c0001t0016g0011 a0001c0001t0024g0129 a0001c0001t0024g0185 a0001c0001t0033g0128 a0001c0001t0041g0126 a0001c0001t0056g0124 a0001c0001t0060g0108 a0001c0002t0002g0149 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0167 a0001c0002t0002g0171 a0001c0002t0002g0173 a0001c0002t0002g0250 a0001c0002t0002g0255 a0001c0002t0016g0156 a0001c0002t0030g0147 a0001c0019t0002g0012 a0003c0005t0014g0022 a0003c0005t0014g0023 a0003c0005t0014g0024 a0007c0016t0002g0114	41	295	0.1390	361	c.809 others(378): Show c.809-3058_809-3057insATGCTGGGACGTCAGGGAGGAGGTCCTT GGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGT CAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGA GGAGGTGCTGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGA GGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCA GGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGG GCGTCAGGGAGGAGGTGCTGGGGCATCAGGGAGGAGGTGCTGGGGCGTCA GGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	468240	G G	GCTGGGAC others(354): Show GCTGGGACGTCAGGGAGGAGGTCCTTGGGCGTCAGGGAGGAGGTGCTGGG GCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCA GGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGG AGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGG TGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCC TGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGC GTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGAGGTC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0146 a0001c0002t0002g0152 a0001c0002t0002g0146 a0001c0002t0002g0152	2	295	0.0068	361	c.809 others(378): Show c.809-3050_809-3049insACGTCAGGGAGGAGGTCCTTGGGCGTCA GGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGG AGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGC TGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGG GGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTC AGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGG GAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAG GTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TAATATGT others(354): Show TAATATGTAATACACAATATATTATATAATAATATGTAATACACAATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATAATATGTAATACACAATACATTATATAATAATA TGTAATACACAATATATTATATAATAATATGTAATACATTATACATTATT ATATAAGTATATGTAATACATTATACATTATTATATAAGTATATGTAATA TATATTATACATTATTATATAAGTATATGTAATATATATTATACATTATT ATATAAGCATATAATATATAATACATAATACATTATATATAAGCATATAA CAATACATAATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00408.hp1 others(15): Show HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00735.hp1 HG01071.hp2 HG01106.hp2 HG01123.hp2 HG01192.hp1 HG01516.hp1 HG02074.hp1 HG03209.hp1 HG03669.hp1 HG03710.hp2 NA18968.hp2 NA18984.hp2 NA18999.hp1 NA19058.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0030 a0001c0001t0039 a0001c0001t0055 a0001c0001t0057 a0001c0001t0069 a0001c0001t0077	a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0002g0206 others(15): Show a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0002g0206 a0001c0001t0003g0204 a0001c0001t0003g0207 a0001c0001t0004g0205 a0001c0001t0005g0189 a0001c0001t0012g0014 a0001c0001t0012g0203 a0001c0001t0013g0200 a0001c0001t0018g0196 a0001c0001t0018g0208 a0001c0001t0030g0213 a0001c0001t0039g0202 a0001c0001t0055g0194 a0001c0001t0057g0195 a0001c0001t0069g0197 a0001c0001t0077g0215	18	220	0.0818	361	c.24+ others(378): Show c.24+14101_24+14102insAATATGTAATACACAATATATTATATAA TAATATGTAATACACAATATATTATATAATAATATGTAATACACAATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATACATTATATAATAATATGTAATACACAATATATTATATAATAATA TGTAATACATTATACATTATTATATAAGTATATGTAATACATTATACATT ATTATATAAGTATATGTAATATATATTATACATTATTATATAAGTATATG TAATATATATTATACATTATTATATAAGCATATAATATATAATACATAAT ACATTATATATAAGCATATAACAATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(354): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGAGGAGGGGAGGGGG GAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGG GGGAGAGGGGAGGAGGGAGGGGGGAGGAGGGGAGGAGGAGGGGAGGGGGA GGAGGGAAGGGGGGAGGGGGAGGAGGGGAGAGGGGAGGGGGAGGGGAAGG GGAGGGGGAGGGGGGAAGGGGAGGGGAGGGGGAGGAGGGAGGAGGGGAGG CGGGGAGGAGGGGACGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	318	0.0031	361	c.36 others(372): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGG GAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGG GGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGAGGGGGGAGGAGGGGAGG AGGAGGGGAGGGGGAGGAGGGAAGGGGGGAGGGGGAGGAGGGGAGAGGGG AGGGGGAGGGGAAGGGGAGGGGGAGGGGGGAAGGGGAGGGGAGGGGGAGG AGGGAGGAGGGGAGGCGGGGAGGAGGGGACGGGGAGGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(354): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGG GGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAG GGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGG AGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGG AAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGAGGAGGGGAGG GCGGGGAGGAGGGGACGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGG GAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	318	0.0031	361	c.36 others(372): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGG GGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAG GAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGG GAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGG AGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGAGGAGGG GAGGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar

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