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
RPH3AL_chr17_207389_357807	221216	C C	CACAACAG others(623): Show CACAACAGCTCTGAGGCCTCCACTCGGTGAGACAATAGACCCAAGCACAT CAGCTCTGAGGGCTCCACTCACTGAGACAATAGACCCAAGCACAACAGCT CTGAGGGCTCCACTCACTGAGACAATAGACCCAAGTGCATCAGCTCTGAG GGCTCCACTCACTGAGACAATAGACCCAAGAACAACAGCTCTGAGGCCTC CACTCACTGAGACAATAGACCCAAGCACAACAGCTCTGAGGCCTCCACTC ACTGAGACAATAGACCCAAGCACATCAGCTCTGAGGCCTCCACTCGGTGA GACAATAGACCCAAGCACATCAGCTCTCAGGCCTCCACTCGGTGAGACAA TAGACCCAAGCACATCAGCTCTCAGGCCTCCACTCACTGAGACAATAGAC CCAAGAACAACAGCTCTGAGGCCTCCACTCACTGAGACAATAGGCCCAAG CACAACAGCTCTGAGGCCTCCACTCACTGAGACAACAGACCCAAGAAAAA CAGCTCTGAGGCCTCCACTCACTGAGACAATAGGCCCAAGCACAACAGCT CTGAGGCCTCCACTCACTGAGACAACAGACCCAAGAACAACAGCTCTGAG GCCTCCACTCACTGAGACAATAGGCCCAAGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG01255.hp2 others(17): Show HG00280.hp1 HG00323.hp1 HG01255.hp2 HG01361.hp1 HG01496.hp1 HG02080.hp1 HG02080.hp2 HG02135.hp2 HG02698.hp1 HG04184.hp1 NA18947.hp1 NA18983.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp2 NA19005.hp1 NA19056.hp1 NA19056.hp2 NA20805.hp1 NA20805.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0024 a0001c0001t0025 a0001c0001t0035 a0001c0002t0001 a0001c0004t0001 a0006c0007t0007	a0001c0001t0001g0115 a0001c0001t0002g0078 a0001c0001t0003g0052 others(17): Show a0001c0001t0001g0115 a0001c0001t0002g0078 a0001c0001t0003g0052 a0001c0001t0004g0021 a0001c0001t0004g0092 a0001c0001t0009g0066 a0001c0001t0014g0023 a0001c0001t0015g0037 a0001c0001t0015g0041 a0001c0001t0019g0011 a0001c0001t0019g0012 a0001c0001t0024g0082 a0001c0001t0025g0076 a0001c0001t0035g0074 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0057 a0001c0004t0001g0046 a0001c0004t0001g0062 a0006c0007t0007g0117	20	118	0.1695	630	c.614 others(647): Show c.614-1481_614-1480insTCTTGGGCCTATTGTCTCAGTGAGTGGA GGCCTCAGAGCTGTTGTTCTTGGGTCTGTTGTCTCAGTGAGTGGAGGCCT CAGAGCTGTTGTGCTTGGGCCTATTGTCTCAGTGAGTGGAGGCCTCAGAG CTGTTTTTCTTGGGTCTGTTGTCTCAGTGAGTGGAGGCCTCAGAGCTGTT GTGCTTGGGCCTATTGTCTCAGTGAGTGGAGGCCTCAGAGCTGTTGTTCT TGGGTCTATTGTCTCAGTGAGTGGAGGCCTGAGAGCTGATGTGCTTGGGT CTATTGTCTCACCGAGTGGAGGCCTGAGAGCTGATGTGCTTGGGTCTATT GTCTCACCGAGTGGAGGCCTCAGAGCTGATGTGCTTGGGTCTATTGTCTC AGTGAGTGGAGGCCTCAGAGCTGTTGTGCTTGGGTCTATTGTCTCAGTGA GTGGAGGCCTCAGAGCTGTTGTTCTTGGGTCTATTGTCTCAGTGAGTGGA GCCCTCAGAGCTGATGCACTTGGGTCTATTGTCTCAGTGAGTGGAGCCCT CAGAGCTGTTGTGCTTGGGTCTATTGTCTCAGTGAGTGGAGCCCTCAGAG CTGATGTGCTTGGGTCTATTGTCTCACCGAGTGGAGGCCTCAGAGCTGTT GT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743919	A A	ACTAGCAC others(623): Show ACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCT GGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAG CCCTGGTTGCTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCTACTAGC ACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTAC TAGTACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCAC TGTCCTGGTTGCTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTA GCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTT ACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCT GGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAG CCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACTGTCCTGGTTACTAGCACTGTCCTGGTTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0071 a0001c0071	a0001c0071t0088 a0001c0071t0088	a0001c0071t0088g0035 a0001c0071t0088g0035	1	184	0.0054	630	c.655 others(649): Show c.655-10085_655-10084insCTATCCTGGCTACTAGCACAGCCCTG GTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGT CCTGGCTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCA GAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACT AGCACTATCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGT TACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCC TGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACT GTCCTGGTTACTAGCACTGTCCTGGTTGCTAGCACAGCCCTGGTTACTAG CACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTA CTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTG GCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGT CCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCA CAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGTTGCT AGCA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743965	C C	CCCTGGTT others(623): Show CCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGG TTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACGAGCAC TGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTA GCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAG CCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGTTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0072 a0001c0072	a0001c0072t0005 a0001c0072t0005	a0001c0072t0005g0076 a0001c0072t0005g0076	1	176	0.0057	630	c.655 others(649): Show c.655-10040_655-10039insTTACTAGCACAGCCCTGGCTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTAC TAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGG TTACGAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC AGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTA GCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCT ACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTG TCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG CTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACTGTC CTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744127	C C	CCCTGGTT others(623): Show CCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGC ACTGTCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG TTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTA GCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTAC TAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG TTACTAGCACAGCCCTGGTTACGAGCACTGT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0085 a0001c0085	a0001c0085t0003 a0001c0085t0003	a0001c0085t0003g0162 a0001c0085t0003g0162	1	173	0.0058	630	c.655 others(647): Show c.655-9878_655-9877insTTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGTTACGAGCACTGTCCTGGTTACTAGCACTGTCCTGGTTACTA GCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCT GGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGC ACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTAC TAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG TTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTA GCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCT GG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744523	C C	CCCTGGTT others(623): Show CCCTGGTTACTAGCACTATCCTGGCTACTAGTACAGCCCTGGTTGCTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG TTGCTAGCACTGTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTA GCACTGTCCTGGCTACTAGTACAGCCCTGGTTACTAGCACTATCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTG TCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTATCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTAC TAGCACTGTCCTGGTTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGTTACTAGCACTAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03041.hp1 HG02486.hp2 HG03041.hp1	a0001 a0001	a0001c0009 a0001c0066 a0001c0009 a0001c0066	a0001c0009t0001 a0001c0066t0058 a0001c0009t0001 a0001c0066t0058	a0001c0009t0001g0125 a0001c0066t0058g0126 a0001c0009t0001g0125 a0001c0066t0058g0126	2	160	0.0125	630	c.655 others(647): Show c.655-9482_655-9481insTTACTAGCACTATCCTGGCTACTAGTAC AGCCCTGGTTGCTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTA GCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCAGAGCCCT GGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTA TCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGC ACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGTACAGCCCTGGTTAC TAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC TATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTA GCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGTACAGCCCTGGCT ACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTATCCT GG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744523	C C	CCCTGGTT others(623): Show CCCTGGTTGCTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG TTACTAGCACTGTCCTGGTTGCTAGCACAGCCCTGGTTACTAGCACAGCC CTGGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC AGCCCTGGTTGCTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTA GCACAGCCCTGGTTGCTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACAGCCCTGGTTGCTAGCACAGCCCTGGTTACTAGCACAGCCCT GGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTG TCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGT ACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTGC TAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGG TTGCTAGCACAGCCCTGGTTACTAGCACTGT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0097 a0001c0097	a0001c0097t0001 a0001c0097t0001	a0001c0097t0001g0155 a0001c0097t0001g0155	1	159	0.0063	630	c.655 others(647): Show c.655-9482_655-9481insTTGCTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTA GCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTGCTAGCACAGCCCT GGTTACTAGCACAGCCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTG TCCTGGCTACTAGCACAGCCCTGGTTGCTAGCACAGCCCTGGTTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGTTGCTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTGCTAGCACAGCCCTGG TTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCC CTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGCTACTA GCACAGCCCTGGTTGCTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTT ACGAGCACAGCCCTGGTTGCTAGCACAGCCCTGGTTACTAGCACTGTCCT GG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744785	T T	TAGCACTG others(623): Show TAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGTTACTAGCAC TGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTA GCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCT GGTTACGAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAG CCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGC AGAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTATGAGCACAGCCCTGG CTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACTGTCCTGGTTACG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0033 a0001c0014t0002g0033	1	137	0.0073	630	c.655 others(647): Show c.655-9220_655-9219insTGTCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCT GGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTG TCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGC ACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTAC TAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGCACTGTC CTGGTTACGAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC AGCCCTGGCTACTAGCAGAGCCCTGGTTACTAGCACAGCCCTGGTTACTA GCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTT ATGAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAG CCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACGAGC AC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACACATCC others(623): Show ACACATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCAT CCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCT ATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCC ATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCC ATCCATCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0200 a0002c0001t0001g0200	1	8	0.1250	630	c.937 others(647): Show c.937-1253_937-1252insCATCCATCCATCCATCCATCCATCCATC CATCCACTCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCA TCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCATCCATC CACCCATCCACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCG TCCGTCCATCCATCCACCCATCCACCCATCCACCCATCCATCCATCCGTC CATCCATCCACCCATCCACCCATCCACCCATCCACCCACCCACCTACCCA CCCACACACCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATC CATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCGTCCATCCA CCCACCCACACACACACCTATCCATCCATCCACCCATCAACCCATCCACC CATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCATTCATCCA TCCATCCATCCATCTACCCATCCACCCACCCACCCACACACCTATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCA CCCACCCACCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATC CA	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEL1L2_chr20_13844247_13995614	13934322	G G	GTATTCCA others(623): Show GTATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATATTCCATATATATATATATTCCATATATATATATATATTC CATATATATATATATTCCATATATATATATATATTCCATATATATATATA TTCCATATATATATATTCCATATATATATATATTCCATATATATATATTC CATATATATATATATTCCATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATTCCATATATATATATATTCCA TATATATATATATTCCATATATATATATTCCATATATATATATTCCATAT ATATATATTCCATATATATATATTCCATATATATATATTCCATATATATA TATTCCATATATATATATATTCCATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	283	0.0035	630	c.115 others(647): Show c.115-2552_115-2551insTATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATGGAATATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATATGGAATATA TATATATGGAATATATATATATGGAATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATGGAATATATATATAT ATGGAATATATATATATGGAATATATATATATATGGAATATATATATATG GAATATATATATATATGGAATATATATATATATATGGAATATATATATAT ATGGAATATATATATATATATGGAATATATATATATATGGAATATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934322	G G	GTATTCCA others(623): Show GTATTCCATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATATTCCATATATATATATATTCCATATATATATATATATTC CATATATATATATTCCATATATATATATATTCCATATATATATATTCCAT ATATATATATATTCCATATATATATATTCCATATATATATATATTCCATA TATATATATTCCATATATATATATATTCCATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATTCCATATATATATATTCCATATATATA TATATTCCATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATTCCATATATATA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	283	0.0035	630	c.115 others(647): Show c.115-2552_115-2551insTATATATATGGAATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATGGAAT ATATATATATATGGAATATATATATATGGAATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATGGAATATATATATATATGGAATATAT ATATATGGAATATATATATATATGGAATATATATATATGGAATATATATA TATATGGAATATATATATATGGAATATATATATATATGGAATATATATAT ATGGAATATATATATATATATGGAATATATATATATATGGAATATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATGGAA TA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(623): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATATTCCATATATAT ATATATTCCATATATATATATATATTCCATATATATATATATTCCATATA TATATATATATTCCATATATATATATTCCATATATATATATATTCCATAT ATATATATTCCATATATATATATATTCCATATATATATATTCCATATATA TATATATTCCATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATTCCATATATATAT ATTCCATATATATATATTCCATATATATATATTCCATATATATATATTCC ATATATATATATTCCATATATATATATATTCCATATATATATATTCCATA TATATATATATTCCATATATATATATATTCC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	230	0.0043	630	c.115 others(647): Show c.115-2573_115-2572insGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATGGAATATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATGGAATAT ATATATATATGGAATATATATATATGGAATATATATATATATGGAATATA TATATATGGAATATATATATATATGGAATATATATATATGGAATATATAT ATATATATGGAATATATATATATATGGAATATATATATATATATGGAATA TATATATATATGGAATATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT AT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SERINC2_chr1_31408213_31439678	31432164	A A	ACAGGGTG others(623): Show ACAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGACAGGGTGGACAGG GTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGA TAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGG TGGACAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAC AGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGT GGACAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGTGAGGGTGGACA GGGTGGAGAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGACAGGGTG GAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAG GGTGGTTAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGTTAGGGTGG ACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGG GTGGTTAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGA CAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGAGAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGATGGT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0184 a0001c0004t0003g0184	1	325	0.0031	630	c.101 others(647): Show c.1014-803_1014-802insCAGGGTGGAGAGGGTGGAGAGGGTGGAT AGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGT GGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACA GGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTG GATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAG GGTGGACAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGG ATAGGGTGGTGAGGGTGGACAGGGTGGAGAGGGTGGACAGGGTGGAGAGG GTGGAGAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGA GAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGAGAGGGTGGAGAGGG TGGAGAGGGTGGTTAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGACAGGGT GGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTTA GGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATG GT	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9			chr1	TogoVar
SERPINF2_chr17_1737871_1760265	1739952	C C	CAGGGAGT others(623): Show CAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGG AGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGA GGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGC CGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGA GGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTG GGAAGGAGCCTGATGCAGGGAGTGAGGAGCTGGACAGTGAGGATGGGAAG GAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCC CGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATG CAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGGGGCCTGATGCAGGG AGTGAGGAGCCGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGA GGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGC CGGACAGTGAGGGTGGGAAGGAGCCTGATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0024 a0002c0002t0001g0024	1	434	0.0023	630	c.-29 others(641): Show c.-2961_-2960insAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAG GAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCC TGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATG CAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGG AGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGA GGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGC CGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCTGGAC AGTGAGGATGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGA GGGTGGGAAGTGGCCCGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTG GGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGG GGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAGGCGGCC TGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATG CAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGT	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		2918		chr17	TogoVar
SLC24A3_chr20_19207642_19727926	19663441	T T	TCCACCTC others(623): Show TCCACCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCACCTCCTCCTC CTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCT CCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCC TCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCAC CTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCT CCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTC CTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCT CCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCC TCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTC CTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCT CCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCC ACCTCCACCTCCTCCTCCACCTCCACCTCCA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0108 a0002c0006t0001g0108	1	147	0.0068	630	c.688 others(647): Show c.688-2422_688-2421insCACCTCCTCCTCTACCTCCTGCACCTCC TCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTC CTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCT CCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC ACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCAC CTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCT CCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCC TCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTC CTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCT CCTCCTCCACCTCCTCCTCCACCTCCACCTCCTCCTCCACCTCCACCTCC AC	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC24A3_chr20_19207642_19727926	19663441	T T	TCCACCTC others(623): Show TCCACCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCACCTCCTCCTC CTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCT CCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCAC CTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCT CCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTC CTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCT CCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCC TCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTC CTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCT CCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCC ACCTCCACCTCCTCCTCCACCTCCACCTCCA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0087 a0002c0006t0001g0087	1	147	0.0068	630	c.688 others(647): Show c.688-2422_688-2421insCACCTCCTCCTCTACCTCCTGCACCTCC TCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTC CTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC ACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCAC CTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCT CCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCC TCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTC CTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCT CCTCCTCCACCTCCTCCTCCACCTCCACCTCCTCCTCCACCTCCACCTCC AC	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC44A5_chr1_75197129_75616114	75280139	T T	TATATATT others(623): Show TATATATTGTATATCTAATATATATTATATATATTTTATATTGTATATAT AATATATATAGTATATATTATATATTGTATATAATATATATAGTATATAT TATATATTGTATATAATATATATAGTATATATTATATATTGTATATATTA TATATTGTATATATAATATATATATTGTATATATTATATATTGTATATAT AATATATATATTGTATATATTATATATTGTATATATAATATATATATTGT ATATATTATATATTGTATATATAATATATATATTGTATATATTATATATT GTATATATAATATATATATTGTATATATTATATATTGTATATATAATATA TATATTGTATATATTATATATTGTATATATAATATATATATTGTATATAT TATATATTGTATATATAATATATATTGTATATATTATATATTGTATATAT AATATATATATTGTATATATTATATATTGTATATATAATATATATATTGT ATATATTATATATTGTATATATAATATATATATTGTATATATTATATATT GTATATATAATATATATATTGTATATATTATATATTGTATATATAATATA TATATTGTATATATTATATATTGTATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	123	0.0081	630	c.176 others(647): Show c.176-5098_176-5097insTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAT ATTATATATACAATATATAATATATACAATATATATTATATATACAATAT ATAATATATACAATATATATATTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAT ATTATATATACAATATATAATATATACAATATATATATTATATATACAAT ATATAATATATACAATATATAATATATACTATATATATTATATACAATAT ATAATATATACTATATATATTATATACAATATATAATATATACTATATAT ATTATATATACAATATAAAATATATATAATATATATTAGATATACAATAT AT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLX9_chr21_44935029_44981973	44981738	A A	AGGGGACA others(623): Show AGGGGACAGCGGGGCCTGGACGGGCCCTGCACACAGAGCCTGCGTGTGGT GTTCAGGGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGC GTGTGGTGTTCAGAGGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACA GAGCCTGCGTGTGGTGTTCAGGGGGGACAGCGGGGCCTGGACGGGGCCCT GCACACAGAGCCTGCGTGTGGTGTTCAGGGGGGACAGCGGGGCCTGGACG GGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGACAGCGGGGC CTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGGAC AGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAG GGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGG TGTTCAGAGGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCT GCGTGTGGTGTTCAGGGGGGACAGCGGGGCCTGGACGGGGCCCTGCACAC AGAGCCTGCGTGTGGTGTTCAGAGGGGACAGCGGGGCCTGGACGGGGCCC TGCACACAGAGCCTGCGTGTGGTGTTCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	189	0.0053	630	c.49 others(641): Show c.4935_*4936insGGGGACAGCGGGGCCTGGACGGGCCCTGCACACA GAGCCTGCGTGTGGTGTTCAGGGGGGACAGCGGGGCCTGGACGGGGCCCT GCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGGACAGCGGGGCCTGGAC GGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGGGGGGACAGCGGGG CCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGGGGGGAC AGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAG AGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGG TGTTCAGAGGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCT GCGTGTGGTGTTCAGGGGGGACAGCGGGGCCTGGACGGGGCCCTGCACAC AGAGCCTGCGTGTGGTGTTCAGAGGGGGACAGCGGGGCCTGGACGGGGCC CTGCACACAGAGCCTGCGTGTGGTGTTCAGGGGGGACAGCGGGGCCTGGA CGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGACAGCGGG GCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAG	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		4766		chr21	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(623): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGA AGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAG GGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGA GGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGG GAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAGGGGAG GGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAG GGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGGAGGGGGGAA GGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGGGGAGAGGG GAGAGGAGGGGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	135	0.0074	630	c.12 others(641): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTT CCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTC CCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTCCCC CCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCC TCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTC CCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCC CTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCC CCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCC TCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACC TCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTC CCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(623): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGG AGGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAG GAGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGC AGAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGG GGAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAA GGGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGG AGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGGGGGA GGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGA GGAGGGGGGGAGGAGGGAGGGGGAGGGGAGGGGAGGGGAAGGGGGGAAGG GGAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGG GAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGGAGGGGGGAAGGG GGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGGGGAGAGGGGAG AGGAGGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	3	0.3333	630	c.12 others(641): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCC TCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCT TCCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCC CCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCC CCCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCC CTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTC CCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCT CTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCC CTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTC CCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCC TTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SMYD3_chr1_245744347_246512279	246243972	G G	GGCTGAAG others(623): Show GGCTGAAGCAGGAGGATCACCTGAGGCTAGGAGTTTGAAGCCACGGTCTG CTATGATCATACCACAGTATTCTAAAGCCCAGGCAACACAGTGAAACCCC ACTGCTTACCCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGG TCTCAGTGGCTCATGCCTGTAATCCTTGCATATCTTGGGATGGCAAGGAG GGAGCATCACTTGAGCCCAGGAGTTCAAAACCAGCCTGGGCAACACACTG AGATTCCATCTCTCATTAAAATATTAGCTGGGTGCGATGGTGCATGCCTG CAGTCCCAGCTACTCCAGAGTCTGAGGTGGCAGGATTGCTTGAGCCCAGG AAGTCAAGGCTACAGTGAGCTGTGTTATTGCCACTGCACTCCAGCCAAGG TGACCACAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAAGGCCAACCAA TTTCCCAATCTAATGTGAAATATAAACTGAAGTGTAGCCTGTCATTTTTA AAAACTTCATACTCTATACATGCATACTTTTTGGTAATCAAATTTATAAC GTGTGTCTAGGCAACCACACATTCAACAGACTACCACGACAGATTTTGCC TAGCACTGTGGTTTAAGAGAAGGATAACTAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp1 HG02056.hp2 others(4): Show HG00140.hp2 HG00735.hp1 HG02056.hp2 HG02965.hp2 HG03831.hp1 HG04115.hp2 NA19000.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0005c0013t0002	a0001c0001t0001g0054 a0001c0001t0002g0021 a0001c0001t0002g0051 others(4): Show a0001c0001t0001g0054 a0001c0001t0002g0021 a0001c0001t0002g0051 a0001c0002t0001g0017 a0001c0002t0002g0061 a0001c0006t0001g0081 a0005c0013t0002g0050	7	104	0.0673	630	c.531 others(649): Show c.531+83228_531+83229insATAGTTATCCTTCTCTTAAACCACAG TGCTAGGCAAAATCTGTCGTGGTAGTCTGTTGAATGTGTGGTTGCCTAGA CACACGTTATAAATTTGATTACCAAAAAGTATGCATGTATAGAGTATGAA GTTTTTAAAAATGACAGGCTACACTTCAGTTTATATTTCACATTAGATTG GGAAATTGGTTGGCCTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTGT GGTCACCTTGGCTGGAGTGCAGTGGCAATAACACAGCTCACTGTAGCCTT GACTTCCTGGGCTCAAGCAATCCTGCCACCTCAGACTCTGGAGTAGCTGG GACTGCAGGCATGCACCATCGCACCCAGCTAATATTTTAATGAGAGATGG AATCTCAGTGTGTTGCCCAGGCTGGTTTTGAACTCCTGGGCTCAAGTGAT GCTCCCTCCTTGCCATCCCAAGATATGCAAGGATTACAGGCATGAGCCAC TGAGACCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGTAA GCAGTGGGGTTTCACTGTGTTGCCTGGGCTTTAGAATACTGTGGTATGAT CATAGCAGACCGTGGCTTCAAACTCCTAGCCTCAGGTGATCCTCCTGCTT CAGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(623): Show GATTATAAAATATAATTATATATAATATATGATTATAAAATATAATTATA TATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAA TATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATA ATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTA TATATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAA TTATATATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0192 a0001c0001t0009g0192	1	9	0.1111	630	c.75 others(641): Show c.7501_*7502insATTATAAAATATAATTATATATAATATATGATTA TAAAATATAATTATATATTATATATGATTATAAAATATAATTATATATTA TATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATA TGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGAT TATAAAATATAATTATATATGATTATAAAATATAATTATATATTATATAT GATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT ATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(623): Show ACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCC ACCCACCATCCACCATCCTATCCACCCCCACATCCATCCTATCTACTCAC CCCCATACCCATCCTATCCACCCACCCACCATCCCCCATCGTATCCACCC ACCCACCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTATCC ACCCCCCATCATCCACCATCCTATCCACCCCCCCACCATCCCCCATCCTA TCCACCCACCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCAT CCTATCCACCCCCCCCACATCCATCCTATCCACCCACCAACCCACCATCT GCCATCCTATCCACCCACCCACCCACCATCCACCATCCTATCCACCCACC CATCATCCACTATCCATCCACCACCCCCACACCCATCCTATCCACCCACC CATCATCCACCATCCACTCACCCTCCATCCACTATCCATCCACCCACCCG CCATCCACCCACCATCCCCCATCCACCTACTCACCCACCCGTTCTATACA TCTACCTACCCATTCTGTCTGTCCACCCACCCATCATATCCATCCACCCA CCTACCCATCCATCCTATCCATCCACCCATC	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0122 a0001c0001t0003g0122	1	28	0.0357	630	c.113 others(649): Show c.113-25872_113-25871insCATCCCCCATCCTATCCACCCACCCA CCATCCCCCATCCTATCCACCCACCCACCATCCACCATCCTATCCACCCC CACATCCATCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCCA CCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCCC CCCACCATCCCCCATCCTATCCACCCCCCATCATCCACCATCCTATCCAC CCCCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTAT CCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCCATCCTA TCCACCCACCAACCCACCATCTGCCATCCTATCCACCCACCCACCCACCA TCCACCATCCTATCCACCCACCCATCATCCACTATCCATCCACCACCCCC ACACCCATCCTATCCACCCACCCATCATCCACCATCCACTCACCCTCCAT CCACTATCCATCCACCCACCCGCCATCCACCCACCATCCCCCATCCACCT ACTCACCCACCCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACCC ACCCATCATATCCATCCACCCACCTACCCATCCATCCTATCCATCCACCC ATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF25_chr16_89868592_89916379	89884843	C C	CCTCTCCC others(623): Show CCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCCTCTCCC TCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGAC GCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCC TCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGAC GCCCTCTCCCTCTGCCTGACGCCCCCTCTCCCTCTGCCTGACGCCCCTCT CCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCT GACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCTC TCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCTCTCCGTCTGC CTGACGCCCTCTCCGTCTGCCTGACGCCCTCTCCGTCTGCCTGACGCCCT CTCCGTCTGCCTGACGCCCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCT GACGCCCTCTCCCTCTGCCTGACCCCCTCTCCCTCTGCCTGACGCCCCTC TCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTG CCTGACGCCCTCTCCCTCTGCCTGACGCCCT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	203	0.0049	630	c.429 others(645): Show c.429+190_429+191insTCCCTCTGCCTGACGCCCCTCTCCCTCTGC CTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCC TCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTG CCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCC TCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCCTCTCCCTC TGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACG CCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCT CTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGAC GCCCCTCTCCGTCTGCCTGACGCCCTCTCCGTCTGCCTGACGCCCTCTCC GTCTGCCTGACGCCCTCTCCGTCTGCCTGACGCCCTCCCTCTGCCTGACG CCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACCCCCTCTCCCT CTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGA CGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF25_chr16_89868592_89916379	89884843	C C	CCTCTCCC others(623): Show CCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCCTCTCCC TCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGAC GCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCC TCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGAC GCCCTCTCCCTCTGCCTGACGCCCCCTCTCCCTCTGCCTGACGCCCCTCT CCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCT GACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCTC TCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCTCTCCGTCTGC CTGACGCCCTCTCCGTCTGCCTGACGCCCTCTCCGTCTGCCTGACGCCCT CTCCGTCTGCCTGACGCCCTCCGTCTGCCTGACGCCCTCTCCCTCTGCCT GACGCCCTCTCCCTCTGCCTGACCCCCTCTCCCTCTGCCTGACGCCCCTC TCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTG CCTGACGCCCTCTCCCTCTGCCTGACGCCCT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0266 a0001c0005t0001g0266	1	203	0.0049	630	c.429 others(645): Show c.429+190_429+191insTCCCTCTGCCTGACGCCCCTCTCCCTCTGC CTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCC TCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTG CCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCC TCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCCTCTCCCTC TGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACG CCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCT CTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGAC GCCCCTCTCCGTCTGCCTGACGCCCTCTCCGTCTGCCTGACGCCCTCTCC GTCTGCCTGACGCCCTCTCCGTCTGCCTGACGCCCTCCGTCTGCCTGACG CCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACCCCCTCTCCCT CTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGA CGCCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF25_chr16_89868592_89916379	89908674	T T	TCCTCCCA others(623): Show TCCTCCCACCTCCCAGTTCCCGCCTCCCACCTCTCACCTCCCACCTCCCT CCTCCCAGTTCCCAGCTCCCAGCTCCCACCTCCCAGCTCCAACCTTCCAG CTCCCAGCTCCCGGCTCCCGGCTCCCACCTCCCTCCTCCCACCTCCCACC TCCCAGCTCCCGCCTCCCTCCTCCCACCTCCCTCCTCCCAGTTCCTACCT CCTATCTCCCAGCTCCCAGCTGCCACCTCCCAGCTTCTGCCTCCCTCCTC CCAGTTCCCACCTCCCAGCTCCCACCTCCCAGCTCCCGCCTCCCTCATCC TAGTTCCCACCTCCCAGCTCCCAGCTCCCTCCTCCCACCTCCCAGCTCCC ACCTCCCTCCTTTCACCTCCCACCTGCCACCTCCCGCCTCCCACCTTCCA GCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCTCCTCCCAGTTCCCAC CTCCCAGCTCCCACCTCCCACCTCCCAACTCCCTCCTCCCACCTCCCAAC TCCCTCCTCCCACCCCCCACCTCCCTCCTCCCAGTTTCCACCTCCCCGTT CCCACCTCCCACCTCCCTCCTCCCACCTCCCAACTCTCTCCTCCCACCTT CCAGTTCCCACCTCCTTCCTCGCAGTTCCCA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03669.hp2 HG03704.hp1 others(3): Show HG03239.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp2 NA18951.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0005t0004 a0001c0001t0001 a0001c0005t0001 a0001c0005t0004	a0001c0001t0001g0262 a0001c0001t0001g0267 a0001c0005t0001g0263 others(3): Show a0001c0001t0001g0262 a0001c0001t0001g0267 a0001c0005t0001g0263 a0001c0005t0001g0264 a0001c0005t0001g0265 a0001c0005t0004g0268	6	242	0.0248	630	c.179 others(649): Show c.1799+1359_1799+1360insCCTCCCAGTTCCCGCCTCCCACCTCT CACCTCCCACCTCCCTCCTCCCAGTTCCCAGCTCCCAGCTCCCACCTCCC AGCTCCAACCTTCCAGCTCCCAGCTCCCGGCTCCCGGCTCCCACCTCCCT CCTCCCACCTCCCACCTCCCAGCTCCCGCCTCCCTCCTCCCACCTCCCTC CTCCCAGTTCCTACCTCCTATCTCCCAGCTCCCAGCTGCCACCTCCCAGC TTCTGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCCCACCTCCCAGCT CCCGCCTCCCTCATCCTAGTTCCCACCTCCCAGCTCCCAGCTCCCTCCTC CCACCTCCCAGCTCCCACCTCCCTCCTTTCACCTCCCACCTGCCACCTCC CGCCTCCCACCTTCCAGCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCC TCCTCCCAGTTCCCACCTCCCAGCTCCCACCTCCCACCTCCCAACTCCCT CCTCCCACCTCCCAACTCCCTCCTCCCACCCCCCACCTCCCTCCTCCCAG TTTCCACCTCCCCGTTCCCACCTCCCACCTCCCTCCTCCCACCTCCCAAC TCTCTCCTCCCACCTTCCAGTTCCCACCTCCTTCCTCGCAGTTCCCACCT CCCA	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF25_chr16_89868592_89916379	89908696	C C	CCTCCCAC others(623): Show CCTCCCACCTCCCAGTTCCCGCCTCCCACCTCTCACCTCCCACCTCCCTC CTCCCAGTTCCCAGCTCCCAGCTCCCACCTCCCAGCTCCAACCTTCCAGC TCCCAGCTCCCACCTAGCAGCTCCCGGCTCCTGGCTCCCACCTCCCTCCT CCCACCTCCCACCTCCCAGCTCCCGCCTCCCACCTCCCACCTCCCACCTC CCTCCTCCCAGTTCCTACCTCCCATCTCCCAGCTCCCAGCTGCCACCTCC CAGCTTCTGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCCCACCTCCC AGCTCCCGCCTCCCTCATCCTAGTTCCCACCTCCCAGCTCCCAGCTCCCT CCTCCCACCTCCCTCCTTTCACCTCCCACCTGCCACCTCCCGCCTCCCAC CTTCCAGCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCTCCTCCCAGT TCCCACCTCCCAGCTCCCACCTCCCAACTCCCTCCTCCCACCCCCCACCT CCCTCCTCCCAGTTTCCACCTCCCCGTTCCCACCTCCCACCTCCCTCCTC CCACCTCCCAACTCTCTCCTCCCACCTTCCAGTTCCCACCTCCTTCCTCG CAGTTCCCACCTCCCAGTTCCCACCTTCCAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02257.hp1 HG02647.hp1 others(11): Show HG00639.hp1 HG02257.hp1 HG02647.hp1 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG03225.hp1 HG03688.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 NA19030.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0097 a0001c0001t0001g0269 a0002c0003t0001g0190 others(11): Show a0001c0001t0001g0097 a0001c0001t0001g0269 a0002c0003t0001g0190 a0002c0003t0001g0271 a0002c0003t0001g0272 a0002c0003t0001g0274 a0002c0003t0001g0279 a0002c0003t0001g0280 a0002c0003t0001g0282 a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0285 a0002c0003t0001g0286 a0002c0003t0001g0287	14	290	0.0483	630	c.179 others(649): Show c.1799+1380_1799+1381insCCTCCCAGTTCCCGCCTCCCACCTCT CACCTCCCACCTCCCTCCTCCCAGTTCCCAGCTCCCAGCTCCCACCTCCC AGCTCCAACCTTCCAGCTCCCAGCTCCCACCTAGCAGCTCCCGGCTCCTG GCTCCCACCTCCCTCCTCCCACCTCCCACCTCCCAGCTCCCGCCTCCCAC CTCCCACCTCCCACCTCCCTCCTCCCAGTTCCTACCTCCCATCTCCCAGC TCCCAGCTGCCACCTCCCAGCTTCTGCCTCCCTCCTCCCAGTTCCCACCT CCCAGCTCCCACCTCCCAGCTCCCGCCTCCCTCATCCTAGTTCCCACCTC CCAGCTCCCAGCTCCCTCCTCCCACCTCCCTCCTTTCACCTCCCACCTGC CACCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCACCTTCCAGCTCCC GCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCCCACCTCCCAACTCCCT CCTCCCACCCCCCACCTCCCTCCTCCCAGTTTCCACCTCCCCGTTCCCAC CTCCCACCTCCCTCCTCCCACCTCCCAACTCTCTCCTCCCACCTTCCAGT TCCCACCTCCTTCCTCGCAGTTCCCACCTCCCAGTTCCCACCTTCCAGCT CCCA	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TENM4_chr11_78647829_79446030	79139595	A A	ATATATAA others(623): Show ATATATAAAATATATATTATATTTCTATAAATATATAAAACATATATTAT ATTTCTATAAATATATAAAACATATATTATATTTCTATAAATATATAAAA CATATATTATATTTCTATAAATATATAAAATATATATTATATTTCTATAA ATATATAAAATATATATTATATTTCTATAAATATATAAAATATATATTAT ATTTCTATAAATATATAAAATATATATTATATTTCTATAAATATATAAAA TATATATTATATTTCTAGAAATATATAAAATATATATTATATTTCTAGAA ATATATAAAATATATATTATATTTCTAGAAATATATAAAATATATATTAT ATTTATAGAAATATATAAAATATATATTATATTTATAGAAATATATAAAA TATATATTATATTTATAGAAATATATAAAATATATATTATATTTATAGAA ATATATAAAATATATATTATATTTATAGAAATATATAAAATATATATTAT ATTTATAGAAATATATAAAATATATATTATATTTATAGAAATATATAAAA TATATATTATATTTATATAAGTATATAAAATATATATTATATTTATATAA GTATATAAAATATATATTATATTTATATAAG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0011 a0001c0001t0026g0011	1	68	0.0147	630	c.-66 others(647): Show c.-66+9114_-66+9115insCTTATATAAATATAATATATATTTTATA TACTTATATAAATATAATATATATTTTATATACTTATATAAATATAATAT ATATTTTATATATTTCTATAAATATAATATATATTTTATATATTTCTATA AATATAATATATATTTTATATATTTCTATAAATATAATATATATTTTATA TATTTCTATAAATATAATATATATTTTATATATTTCTATAAATATAATAT ATATTTTATATATTTCTATAAATATAATATATATTTTATATATTTCTATA AATATAATATATATTTTATATATTTCTAGAAATATAATATATATTTTATA TATTTCTAGAAATATAATATATATTTTATATATTTCTAGAAATATAATAT ATATTTTATATATTTATAGAAATATAATATATATTTTATATATTTATAGA AATATAATATATATTTTATATATTTATAGAAATATAATATATATTTTATA TATTTATAGAAATATAATATATATTTTATATATTTATAGAAATATAATAT ATGTTTTATATATTTATAGAAATATAATATATGTTTTATATATTTATAGA AATATAATATATGTTTTATATATTTATAGAAATATAATATATATTTTATA TA	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TERT_chr5_1248167_1300068	1290319	A A	ACACGTGA others(623): Show ACACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGGGA CAGGGACACCCGGGGGCCGCGCCTCACTCACCCTACACGTGACAGGGACA CCCGGGGGCCGTGCCTCACTCACCCTGCACGGGACAGGGACACCCGGGGG CCGTGCCTCACTCACCCTGAACGTGACAGGGACACCCGGGGACCGCGCCT CACTCACCCTGCACGTGACAGGGACACCCGGGGCCCGCGCCTCACTCACC CTACACGTGACAGGGACACCCGGGGGCCGTGCCTCACTCACCCTGCACGT GACAGGGACACCCGGGGGCCGTGCCTCACTCACCCTGCACGTGACAGGGA CACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGAGACACCCGGG GACGGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACAGTGC CTCACTCACCCTACACGTGACAGGGACACCCGGGGACCGCGCCTCACTCA CCCTGAACGTGACAGGGACACCCGGGGACAGTGCCTCACTCACCCTGAAC GTGACAGGGACACCCGGGGGCCGCGCCTCACTCACCCTACACGTGACAGG GACACCCGGGGGCCGCGCCTCACTCACCCTG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	304	0.0033	630	c.157 others(649): Show c.1573+2993_1573+2994insCAGGGTGAGTGAGGCGCGGCCCCCGG GTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCGGCCCCCGGGTGTCCCT GTCACGTTCAGGGTGAGTGAGGCACTGTCCCCGGGTGTCCCTGTCACGTT CAGGGTGAGTGAGGCGCGGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGA GTGAGGCACTGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCG CCGTCCCCGGGTGTCTCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCC GGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCACGGCCCCCGGGTGTCC CTGTCACGTGCAGGGTGAGTGAGGCACGGCCCCCGGGTGTCCCTGTCACG TGTAGGGTGAGTGAGGCGCGGGCCCCGGGTGTCCCTGTCACGTGCAGGGT GAGTGAGGCGCGGTCCCCGGGTGTCCCTGTCACGTTCAGGGTGAGTGAGG CACGGCCCCCGGGTGTCCCTGTCCCGTGCAGGGTGAGTGAGGCACGGCCC CCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCGGCCCCCGGGTGT CCCTGTCCCGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCA CGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1290682	T T	TGCCTCAC others(623): Show TGCCTCACTCACCCTACACGGGACAGGGACACCCGGGGACCGTGCCTCAC TCACCCTGCACGTGACAGGGACACCCGGGGACCGCGCCTCACTCACCCTG CACGTGACAGGGACACCCGGGGGCCTCGCGTCAATCACCCTGCACGTGAC AGGGACACCCGGGGACGGCGCCTCACTCACCCTACACGTGACAGGGACAC CCGGGGACGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGAC GGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCACCTC ACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCC TGCACGTGACAGGGACACGCGGGGACGGCGCCTCACTCACCCTGCACGTG ACAGGGACACCCGGGGGCCTCGCGTCAATCACCCTGCACGTGACAGGGAC ACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGG ACAGTGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGACCGCGCC TCACTCACCCTGAACGTGACAGGGACACCCGGGGACAGTGCCTCACTCAC CCTACACGGGACAGGGACACCCGGGGACCGC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	273	0.0037	630	c.157 others(649): Show c.1573+2630_1573+2631insGCGGTCCCCGGGTGTCCCTGTCCCGT GTAGGGTGAGTGAGGCACTGTCCCCGGGTGTCCCTGTCACGTTCAGGGTG AGTGAGGCGCGGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGC ACTGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCC CGGGTGTCCCTGTCACGTGCAGGGTGATTGACGCGAGGCCCCCGGGTGTC CCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGCGTGTCCCTGTCAC GTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGTAGGG TGAGTGAGGTGCCGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAG GCGCCGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCCGTC CCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTG TCCCTGTCACGTGCAGGGTGATTGACGCGAGGCCCCCGGGTGTCCCTGTC ACGTGCAGGGTGAGTGAGGCGCGGTCCCCGGGTGTCCCTGTCACGTGCAG GGTGAGTGAGGCACGGTCCCCGGGTGTCCCTGTCCCGTGTAGGGTGAGTG AGGC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1290736	C C	CCTATACC others(623): Show CCTATACCTGGGAGGGACACCCGGGGACGGTGCCTCACTCACCCTACACG TGACAGGGACACCCTGGGGCCGCGCCTCACTCACCCTACACCTGAGAGGG ACACCCGGGGACAGCGCCTCACTCACCCTGCACGGGACAGGGACACCCGG GGACCGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACAGTG CCTCACTCACCCTGCACGTGACAGAGAAACCCGGGGGCCACGCCTCACTC ACCCTGCACGGGACAGGGACACCCGGGGATGGCGCCTCACTCACCCTGCA CGGGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTACACCTGAGAG GGACACCCGGGGACAGTGCCTCACTCACCCTACACGTGACAGGGACACCC GGGGACCGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACAG TGCCTCACTCACCCTGCACGTGACAGAGAAACCCGGGGGCCACGCCTCAC TCACCCTGCACGGGACAGGGACACCCGGGGATGGCGCCTCACTCACCCTG CACGGGACAGGGACACCCGGGGATGGCGCCTCACTCACCCTACACGTGAC AGGGACACCCGGGGGCCACACCTCAATCACG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0189 a0001c0008t0002g0189	1	390	0.0026	630	c.157 others(649): Show c.1573+2576_1573+2577insCGTGATTGAGGTGTGGCCCCCGGGTG TCCCTGTCACGTGTAGGGTGAGTGAGGCGCCATCCCCGGGTGTCCCTGTC CCGTGCAGGGTGAGTGAGGCGCCATCCCCGGGTGTCCCTGTCCCGTGCAG GGTGAGTGAGGCGTGGCCCCCGGGTTTCTCTGTCACGTGCAGGGTGAGTG AGGCACTGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGG TCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCACTGTCCCCGGG TGTCCCTCTCAGGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTG TCCCGTGCAGGGTGAGTGAGGCGCCATCCCCGGGTGTCCCTGTCCCGTGC AGGGTGAGTGAGGCGTGGCCCCCGGGTTTCTCTGTCACGTGCAGGGTGAG TGAGGCACTGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGC GGTCCCCGGGTGTCCCTGTCCCGTGCAGGGTGAGTGAGGCGCTGTCCCCG GGTGTCCCTCTCAGGTGTAGGGTGAGTGAGGCGCGGCCCCAGGGTGTCCC TGTCACGTGTAGGGTGAGTGAGGCACCGTCCCCGGGTGTCCCTCCCAGGT ATAG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1291309	G G	GGCACCTC others(623): Show GGCACCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGCCTC ACTCACCCTACACGTGACAGGGACACCCGGGGACGGCACCTCACTCACCC TGCACGTGACAGGGACACGCGGGGACGGCGCCTCACTCACCCTGCACGTG ACAGGGACACCCGGGGGCCTCGCGTCAATCACCCTGCACGTGACAGGGAC ACCCGGGGACGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGG ACGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGCC TCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCACCTCACTCAC CCTACACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACG TGACAGGGACACGCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGG ACACCCGGGGGCCTCGCGTCAATCACCCTGCACGTGACAGGGACACCCGG GGACGGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACAGTG CCTCACTCACCCTACACGTGACAGGGACACCCGGGGACCGCGCCTCACTC ACCCTGAACGTGACAGGGACACCCGGGGACA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA19004.hp1 NA18947.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0062 a0001c0002t0001g0063	2	64	0.0313	630	c.157 others(649): Show c.1573+2003_1573+2004insTGTCCCCGGGTGTCCCTGTCACGTTC AGGGTGAGTGAGGCGCGGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAG TGAGGCACTGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGC CGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGATTGACGCGAGGCCCCCG GGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGCGTGTCCC TGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGT GTAGGGTGAGTGAGGTGCCGTCCCCGGGTGTCCCTGTCACGTGTAGGGTG AGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGC GCCGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCC CGGGTGTCCCTGTCACGTGCAGGGTGATTGACGCGAGGCCCCCGGGTGTC CCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGCGTGTCCCTGTCAC GTGCAGGGTGAGTGAGGTGCCGTCCCCGGGTGTCCCTGTCACGTGTAGGG TGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAG GTGC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
THEG_chr19_356747_381026	377261	T T	TCTGTGCC others(623): Show TCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCT CTCCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCA GCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCA GCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACC CAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCC ACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCC CCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCCCTG TGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCC TCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	347	0.0029	630	c.-12 others(641): Show c.-1292_-1291insGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGA GAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAG GGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGG GCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGT GGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGG GTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGG GTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGGAGAGG CTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAG GCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGA GAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1236		chr19	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(623): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCT CTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCT GTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGT CTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCT CTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCT CTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCT CTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTT CTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCT GTCTCTTTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCT CTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCT CTGTCTCTCTCTCTGTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0212 a0001c0001t0003g0212	1	111	0.0090	630	c.924 others(647): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGA GACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAGA GAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGA GAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGA GAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGACAGA GAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGA GAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGA GAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGA GA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(623): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCT CTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCT GTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTGTCT CTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCT CTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCT CTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCT CTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTT CTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCT GTCTCTTTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCT CTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCT CTGTCTCTCTCTCTGTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0247 a0001c0001t0018g0247	1	111	0.0090	630	c.924 others(647): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGA GACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAGA GAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGA GAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGA GAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGACA GAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGA GAGAGACAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGA GAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGA GA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(623): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCT CTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCT CTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGT CTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCT CTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCT CTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCT CTGTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCT CTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTGTCTCTTTCTCT CTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCT CTGTCTCTCTCTCTCTGTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0030 a0006c0013t0030	a0006c0013t0030g0194 a0006c0013t0030g0194	1	158	0.0063	630	c.924 others(647): Show c.924-2424_924-2423insGACAGAGAGAGAGACAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGA GAGAGAGAAAGAGACAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGA CAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAAAGAGACAGAGAGAGA GAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGA CAGAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGA GAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGA GAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGACA GAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(623): Show GTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCT CTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCT GTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTGTCT CTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGT CTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTTTCTCTCT CTCTCTGTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCT CTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTGTCTCTTTCTCT CTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCT CTGTCTCTCTCTCTCTGTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	158	0.0063	630	c.924 others(647): Show c.924-2424_924-2423insGACAGAGAGAGAGACAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGA GAGAGAGAAAGAGACAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGA GAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGA GAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGACAGAGAGA GAGAGACAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGA GACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGA GAGACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGACAGAGAGAGA GAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGA GAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGA GA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(623): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0351 a0003c0003t0001g0351	1	188	0.0053	630	c.227 others(649): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCC CACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(623): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0331	1	188	0.0053	630	c.227 others(649): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(623): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0391 a0003c0003t0003g0391	1	188	0.0053	630	c.227 others(649): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMEM120B_chr12_121707752_121787068	121747351	G G	GCTGGGGT others(623): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	299	0.0033	630	c.189 others(645): Show c.189-962_189-961insTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGC ACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747613	G G	GCTGGGGT others(623): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCG GGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0304 a0002c0002t0022g0304	1	268	0.0037	630	c.189 others(645): Show c.189-700_189-699insTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129303136	C C	CAGCCTCC others(623): Show CAGCCTCCACCATCATCACTCACCAGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCC TCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACT CGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCA GAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCC TCCACCATCATCACTCGCCGGGACTCTGCAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01167.hp2 HG01978.hp2 HG00741.hp1 HG01167.hp2 HG01978.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0022 a0003c0005t0023 a0001c0001t0001 a0001c0001t0022 a0003c0005t0023	a0001c0001t0001g0079 a0001c0001t0022g0086 a0003c0005t0023g0088 a0001c0001t0001g0079 a0001c0001t0022g0086 a0003c0005t0023g0088	3	12	0.2500	630	c.129 others(651): Show c.1299+34497_1299+34498insCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGG CGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTG GAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGT CCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGG CGAGTGATGATGGTGGAGGCTCTGCAGAGTCCTGGTGAGTGATGATGGTG GAGGCT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129303136	C C	CAGCCTCC others(623): Show CAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCC TCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACT CGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCA GAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCC TCCACCATCATCACTCGCCGGGACTCTGCAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp2 HG01884.hp2 HG02145.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0009 a0001c0001t0003 a0002c0003t0009	a0001c0001t0003g0046 a0002c0003t0009g0054 a0001c0001t0003g0046 a0002c0003t0009g0054	2	11	0.1818	630	c.129 others(651): Show c.1299+34497_1299+34498insCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGG CGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTG GAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGT CCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGG CGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTG GAGGCT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMPRSS2_chr21_41459305_41513158	41474574	A A	AGTGAGGG others(623): Show AGTGAGGGGGTGGGTGAGGGGTGGGTGAGGTGGTGAGTGAGGGGGTGAGG GGTGAGTAAGGAGGTGAGGGGGTGAGTGAGGGGGTGGGTGAGGGGTGGGT GAGGGGATGAGGGAGTGATTCAGAGGGTGAAGGGGTGAGTGAGGGAGTGA AGGCATGATTGAGGGGGTGAAGGGGTGAGTGAGGGGGTGACTGAGGGGTG AAGGGGGGAGTGAGGAGGAGAGTGAGGGGGTGAAGGCATGAGTGAGGGGG TGAATGGGTGAGAGACGGGGTGAGTGAGGGGTGAAGGGATGAATGAGGGG GTAAGTAAGGGGTTGAGGGGGTGAGGGGGTGAGTGAGGAGGTGAAGGGTG AGTGAGGGCGTGAGGGGGTGAGGGAGTGAGGGATTAGTGAGGGGGTGAGG GGTTGAGTGAGGAGGTGAGCAGGTGGGTGAGTGGATGAAGGGGTGAGTGA GGGGGTGAGGGGTGAATGAGGGGTTGAGTAGGGGGTGAGTGAGGAGGTGA GGTGGTGAGTGAGGGGGTGAAGGGTGAGTGAGGGGGTGAGGAGGTGAGTG AGGGGGTGACGGGGTGGGGTGAGGGAGGGATGAGGGGGAGAGTGAGGAGG TGAGGAGGTGAGTGAGGGTTGAGGGAGTGAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0075 a0001c0002t0009g0075	1	300	0.0033	630	c.728 others(647): Show c.728-1079_728-1078insCTCACTCCCTCAACCCTCACTCACCTCC TCACCTCCTCACTCTCCCCCTCATCCCTCCCTCACCCCACCCCGTCACCC CCTCACTCACCTCCTCACCCCCTCACTCACCCTTCACCCCCTCACTCACC ACCTCACCTCCTCACTCACCCCCTACTCAACCCCTCATTCACCCCTCACC CCCTCACTCACCCCTTCATCCACTCACCCACCTGCTCACCTCCTCACTCA ACCCCTCACCCCCTCACTAATCCCTCACTCCCTCACCCCCTCACGCCCTC ACTCACCCTTCACCTCCTCACTCACCCCCTCACCCCCTCAACCCCTTACT TACCCCCTCATTCATCCCTTCACCCCTCACTCACCCCGTCTCTCACCCAT TCACCCCCTCACTCATGCCTTCACCCCCTCACTCTCCTCCTCACTCCCCC CTTCACCCCTCAGTCACCCCCTCACTCACCCCTTCACCCCCTCAATCATG CCTTCACTCCCTCACTCACCCCTTCACCCTCTGAATCACTCCCTCATCCC CTCACCCACCCCTCACCCACCCCCTCACTCACCCCCTCACCTCCTTACTC ACCCCTCACCCCCTCACTCACCACCTCACCCACCCCTCACCCACCCCCTC AC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TP53AIP1_chr11_128930370_128947871	128930739	G G	GCTGGGGT others(623): Show GCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTG GGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGG TTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGG GAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAG GCCGGGGTTAGAGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCA GGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGG TTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGGAGGCCGGGGTTAGG GAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCAGGGGTTAGGGA GGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCC GGGGTTAGGGAGGCCGGGGTTAGGGAGGCAGGGATTATGGAGGCAGGGAT TAGGGAGGCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGG AGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGC TGGGGTTAGGGAGACCAAGGGTCAGGGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0065 a0002c0002t0011g0065	1	455	0.0022	630	c.48 others(641): Show c.4851_*4852insGCCTCCCTGACCCTTGGTCTCCCTAACCCCAGCC TCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCC TAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGCCTCCCTAATC CCTGCCTCCATAATCCCTGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCC CTAACCCCTGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCT AACCCCGGCCTCCCTAACCCCCAGCCTCCCTACCCTGGCCTCCCTAACCC CTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGG CCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCTCTAACCCCGGCCTC CCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCT AACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCC CGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCAG CCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAG	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4630		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(623): Show TTATATATATATTATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATAAAAATTATATATAT TATATATATAAAAATTATATATATATTATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATTATATATATATAAAAATTATATATAT ATTATATATATAAAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATTATATATATATAAAAA TTATATATATTATATATATATAAAAATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG02056.hp2 HG02109.hp2 others(3): Show HG00558.hp1 HG02056.hp2 HG02109.hp2 HG03491.hp2 HG03492.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	6	149	0.0403	630	c.28 others(641): Show c.2888_*2889insTATATATATATTATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT AAAAATTATATATATTATATATATAAAAATTATATATATATTATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATTATATATATAT AAAAATTATATATATATTATATATATAAAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATT ATATATATATAAAAATTATATATATTATATATATATAAAAATTATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2210		chr11	TogoVar
TRPC4AP_chr20_34997404_35097807	35097516	T T	TGTGTGTG others(623): Show TGTGTGTGTATATACATATACACGCGTGTGTATATACATATACACGCGTG TGTATATACATATACACGCGTGTGTATATACATATACACGCGTGTGTATA TACATATACACGCGTGTGTATATACATATACACGCGTGTGTATATACATA TACACGCGTGTGTATATACATATACACGCGTGTGTATATACATATACACG CGTGTGTATATACATATACACGCGTGTGTATATACACATATACACGCGTG TGTATATACACATATACACGCGTGTGTATATACACATATACACGCGTGTG TATATACACATATACACGCGTGTGTATATACACATATACACGCGTGTGTA TATACACATATACACGCGTGTGTATATACACATATACACGCGTGTGTATA TACACATATACACGCGTGTGTATATACACATATACACGCGTGTGTATATA CACATATACACGCGTGTGTATATACACATATACACGCGTGTGTATATACA CATATACACGCGTGTGTATATACACATATACACGCGTGTGTATATACACA TATACACGCGTGTGTATATACACATATACACGCGTGTGTATATACACATA TACACGCGTGTGTATATACACATATACACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0224 a0001c0001t0003g0224	1	326	0.0031	630	c.-47 others(641): Show c.-4736_-4735insGCGTGTATATGTGTATATACACACGCGTGTATAT GTGTATATACACACGCGTGTATATGTGTATATACACACGCGTGTATATGT GTATATACACACGCGTGTATATGTGTATATACACACGCGTGTATATGTGT ATATACACACGCGTGTATATGTGTATATACACACGCGTGTATATGTGTAT ATACACACGCGTGTATATGTGTATATACACACGCGTGTATATGTGTATAT ACACACGCGTGTATATGTGTATATACACACGCGTGTATATGTGTATATAC ACACGCGTGTATATGTGTATATACACACGCGTGTATATGTGTATATACAC ACGCGTGTATATGTGTATATACACACGCGTGTATATGTGTATATACACAC GCGTGTATATGTGTATATACACACGCGTGTATATGTATATACACACGCGT GTATATGTATATACACACGCGTGTATATGTATATACACACGCGTGTATAT GTATATACACACGCGTGTATATGTATATACACACGCGTGTATATGTATAT ACACACGCGTGTATATGTATATACACACGCGTGTATATGTATATACACAC GCGTGTATATGTATATACACACGCGTGTATATGTATATACACACAC	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4710		chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53204105	T T	TATTATAT others(623): Show TATTATATCATCATATGATGATATACTATTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATA TGATACTATATCATCATATGATGATATGATACTATATCATCATATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATATACTATATCATCATATGATATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0082 a0001c0001t0008g0082	1	125	0.0080	630	c.41- others(647): Show c.41-49392_41-49391insTATATCATCATATGATGATATACTATTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATATACTATATCATCATATGATATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG AT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53204105	T T	TATTATAT others(623): Show TATTATATCATCATATGATGATATACTATTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATATACTATATCATCATATGATATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0155 a0001c0001t0076g0155	1	125	0.0080	630	c.41- others(647): Show c.41-49392_41-49391insTATATCATCATATGATGATATACTATTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATATAC TATATCATCATATGATATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG AT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53204105	T T	TATTATAT others(623): Show TATTATATCATCATATGATGATATACTATTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATATACTATATCATCATATGATATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0060 a0001c0001t0007g0060	1	125	0.0080	630	c.41- others(647): Show c.41-49392_41-49391insTATATCATCATATGATGATATACTATTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATATACTATATCATCATATGATATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG AT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar

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