Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MPG_chr16_73225_90846	81837	G G	GCCTCCTG others(164): Show GCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTC CAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACC CTATCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCC CACCACCCTACCTCCAGGAAGC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	442	0.0023	171	c.301 others(188): Show c.301-1199_301-1198insCGCGCTGACCCCTTCTTCCCACCACCCT ACCTCCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCA CCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTT CTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	81861	A A	ACCCCTTC others(164): Show ACCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCC CGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGCCCTCCTGAA TGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCC TCCTGAATGCTCCCCACGCTGG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02976.hp2 HG03540.hp2 HG02630.hp1 HG02976.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	3	442	0.0068	171	c.301 others(188): Show c.301-1165_301-1164insAGGAAGCCCTCCTGAATGCTCCCCGCGC TGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGCCCTCCTGAATGCTC CCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTG AATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	81918	A A	ACCCCTTC others(164): Show ACCCCTTCTTCCCACCACCCTATCTCCGGGAAGCCCTCCTGAATGCTCCC CACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCC TCCTGAATGCTCCCCACGCTGG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01257.hp2 HG01258.hp2 others(1): Show HG01192.hp1 HG01257.hp2 HG01258.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0209 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0209	4	442	0.0091	171	c.301 others(188): Show c.301-1113_301-1112insTCTCCGGGAAGCCCTCCTGAATGCTCCC CACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCC TCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTA	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	81940	C C	CCTCCGGG others(164): Show CCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCAC CACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGGCCCCTTC TTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGA CCCCTTCTTCCCACCACCCTAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0272 a0001c0002t0001g0272	1	442	0.0023	171	c.301 others(188): Show c.301-1108_301-1107insGGGAAGGCCTCCTGAATGCTCCCCGCGC TGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTC CCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTG AATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	81971	G G	GCTGGCCC others(164): Show GCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGC TCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCC TGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAA GGCCTCCTGAATGCTCCCCACA	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA20905.hp1 HG03017.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0058 a0001c0002t0001g0061 a0001c0002t0001g0058 a0001c0002t0001g0061	2	442	0.0045	171	c.301 others(188): Show c.301-1078_301-1077insGCCCCTTCTTCCCACCACCCTACCTCCG GGAAGGCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCT ACCTCCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCA CCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTG	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	82168	T T	TCTCCGGG others(164): Show TCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCAC CACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTC TTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGA CCCCTTCTTCCCACCACCCTAC	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18998.hp2 NA19059.hp2 NA18974.hp1 NA18998.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	3	442	0.0068	171	c.301 others(186): Show c.301-874_301-873insGCCTCCTGAATGCTCCCCACACTGACCCCT TCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCGCGCT GACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCC CCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAG	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	82168	T T	TCTCCGGG others(164): Show TCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCAC CACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGA CCCCTTCTTCCCACCACCCTAC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	442	0.0023	171	c.301 others(186): Show c.301-874_301-873insGCCTCCTGAATGCTCCCCACACTGACCCCT TCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACACT GACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCC CCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAG	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	82179	C C	CCCTCCTG others(164): Show CCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTC CAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACC CTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCC CACCACCCTACCTCCGGGAAGG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	442	0.0023	171	c.301 others(186): Show c.301-856_301-855insACGCTGGCCCCTTCTTCCCACCACCCTACC TCCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCA CCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTT CCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	82179	C C	CCCTCCTG others(164): Show CCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTC CGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACC CTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCC CACCACCCTACCTCCGGGAAGG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	442	0.0023	171	c.301 others(186): Show c.301-856_301-855insACGCTGGCCCCTTCTTCCCACCACCCTACC TCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCA CCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTT CCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	82203	A A	ACCCCTTC others(164): Show ACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCC CGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAA TGCTCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCC TCCTGAATGCTCCCCGCGCTGG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03471.hp1 HG03195.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0077 a0001c0001t0001g0081	2	442	0.0045	171	c.301 others(186): Show c.301-828_301-827insCCTCCGGGAAGGCCTCCTGAATGCTCCCCG CGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATG CTCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTC CTGAATGCTCCCCGCGCTGGCCCCTTCTTCCCACCACCCTA	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	82247	G G	GCTCCCCA others(164): Show GCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCT CCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGG AAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAC CTCCGGGAAGGCCTCCTGAATA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA21309.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0200 a0001c0001t0001g0043 a0001c0001t0001g0200	2	442	0.0045	171	c.301 others(186): Show c.301-799_301-798insACACTGACCCCTTCTTCCCACCACCCTACC TCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCA CCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTT CCCACCACCCTACCTCCGGGAAGGCCTCCTGAATACTCCCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	82247	G G	GCTCCCCA others(164): Show GCTCCCCACACTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGCCCT CCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGG AAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTAC CTCCGGGAAGGCCTCCTGAATA	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	442	0.0023	171	c.301 others(186): Show c.301-799_301-798insACACTGACCCCTTCTTCCCACCACCCTATC TCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCA CCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTT CCCACCACCCTACCTCCGGGAAGGCCTCCTGAATACTCCCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPPED1_chr22_43407014_43512848	43500145	G G	GTGGGGGT others(164): Show GTGGGGGTGATGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGT GATGGTGATGGAGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGGGGTGG TGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTG GTGGTGGTGATGGAGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA20805.hp1 HG01346.hp1 NA20805.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0010 a0001c0008t0010	a0001c0008t0010g0064 a0001c0008t0010g0237 a0001c0008t0010g0064 a0001c0008t0010g0237	2	250	0.0080	171	c.748 others(188): Show c.748+1803_748+1804insATGGTGGTGATGGTGATGGAGGTGGCAG TGATGATGGTGGTGATGGTGATGGAGGTGGTGGTGGTGATGGTGGTGGTG GTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGT GGAGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500278	C C	CGGTGGTG others(164): Show CGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATG GAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGT GGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGG TGGTGATGGTGATGGTGATGGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0206 a0001c0007t0002g0206	1	250	0.0040	171	c.748 others(188): Show c.748+1939_748+1940insTGGTGGTGGTGATGGGGGTGGTGGTGGT GATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGG TGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGCA GTGATGATGGTGGTGATGGTGATGGTGATGGAGGTGGTGATGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MSLN_chr16_755734_773862	767581	C C	CGCGTGGA others(164): Show CGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGG GCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCAT GGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGAGGGGCGC GTGGAGGGGGCCGTGTGGGGGG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	388	0.0026	171	c.159 others(188): Show c.1596+120_1596+121insGGGGAGCGTGGGGGGCGTGGAGGAGGGG CGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGA GGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTG GAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTERF3_chr8_96234402_96266610	96250667	A A	AGAAGAAG others(164): Show AGAAGAAGAAGAAGAGGAGGAAGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAAGAGGAAGAGGAGGAAGA AGAGGAAGAAGAGGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	294	0.0034	171	c.677 others(186): Show c.677+238_677+239insCTCTTCTTCCTCTTCTTCCTCTTCTTCCTC CTCTTCCTCTTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCTTCCTCCTCTTCTTCTTCTTC	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MTHFD2_chr2_74193615_74222565	74203906	G G	GTTTAGTT others(164): Show GTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTA GTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTA GTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTA GTTTAGTTTAGTTTAGTTTAGT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0217 a0001c0001t0003g0217	1	414	0.0024	171	c.102 others(188): Show c.102-1797_102-1796insTAGTTTAGTTTAGTTTAGTTTAGTTTAG TTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAG TTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAG TTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTT	MTHFD2	ENSG00000065911.13	transcript	ENST00000394053.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
MUSK_chr9_110663791_110811558	110689674	T T	TATAATAT others(164): Show TATAATATATAACTATATATAGTTATATATTTATATATAACTATATATAG TTATATATAAATATATAACTATATATAGTTATATATAAATATATAACTAT ATATAGTTATATATAAATATATAACTATATATAGTTATATATTTATATAT AACTATATATAGTTATATATAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0013 a0001c0001t0009g0013	1	326	0.0031	171	c.358 others(188): Show c.358+2409_358+2410insATATATAACTATATATAGTTATATATTT ATATATAACTATATATAGTTATATATAAATATATAACTATATATAGTTAT ATATAAATATATAACTATATATAGTTATATATAAATATATAACTATATAT AGTTATATATTTATATATAACTATATATAGTTATATATAAATA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYNN_chr3_169768396_169794716	169769250	G G	GCCCCACC others(164): Show GCCCCACCCCCCCACAACACCCCCAGCCCCGCCGCCCCCAGCCACCCCAG CCCCACCCCTCCAACCTCCGCAGTCCCACGCCCCGCCAACCTCCCCAGCC CCACCCCACCCCACCCCCACCCCATCCCCACCCCACCCCCACCCCATCCC CACCCCACCCTCCCCACCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	350	0.0029	171	c.-42 others(182): Show c.-4244_-4243insCCCCACCCCCCCACAACACCCCCAGCCCCGCCGC CCCCAGCCACCCCAGCCCCACCCCTCCAACCTCCGCAGTCCCACGCCCCG CCAACCTCCCCAGCCCCACCCCACCCCACCCCCACCCCATCCCCACCCCA CCCCCACCCCATCCCCACCCCACCCTCCCCACCCCCA	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		4145		chr3	TogoVar
MYO1F_chr19_8515778_8582442	8543786	C C	CTGGTGGT others(164): Show CTGGTGGTGCTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGCTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTG GTGGTGCTGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0210 a0001c0008t0005g0210	1	342	0.0029	171	c.152 others(188): Show c.1524+510_1524+511insCCACCACCACCACCAGCACCACCACCAC CACCACCAGCACCACCAGCACCACCACCACCACCACCACCACCACCACCA CCAGCACCACCAGCACCACCACCACCACCACCACCACCACCACCACCACC AGCACCACCACCACCACCACCAGCACCACCACCAGCACCACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
NCAM2_chr21_20993409_21548329	21331568	C C	CATATATA others(164): Show CATATATATACTCTATATATATACTCTATATATATATATATACTCTATAT ATATATATATATATATACTCTCTCTCTCTCCATATATATATATATATACT CTATATATATATATATATACTCTCTCTCTCTCCATATATATATATATATA TACTCTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA19090.hp2 HG02572.hp2 NA19090.hp2	a0001 a0001	a0001c0004 a0001c0014 a0001c0004 a0001c0014	a0001c0004t0008 a0001c0014t0001 a0001c0004t0008 a0001c0014t0001	a0001c0004t0008g0122 a0001c0014t0001g0041 a0001c0004t0008g0122 a0001c0014t0001g0041	2	132	0.0152	171	c.738 others(188): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TATACTCTATATATATATATATATATATACTCTCTCTCTCTCCATATATA TATATATATACTCTATATATATATATATATACTCTCTCTCTCTCCATATA TATATATATATATACTCTATATATATATATATATATATATATA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331576	T T	TACTCTAT others(164): Show TACTCTATATATATACTCTATATATATATATACACTCTATATATATATAT ATATATATACTCTCTCTCTCTCCATATATATATATATATACTCTATATAT ATATATATATACTCTCTCTCTCTCCATATATATATATATATATACTCTAT ATATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	132	0.0076	171	c.738 others(188): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TACACTCTATATATATATATATATATATACTCTCTCTCTCTCCATATATA TATATATATACTCTATATATATATATATATACTCTCTCTCTCTCCATATA TATATATATATATACTCTATATATATATATATATATATAGAGA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331576	T T	TACTCTAT others(164): Show TACTCTATATATATACTCTATATATATATATACTCTATATATATATATAT ATATACTCTCTCTCTCTCCATATATATATATATATACTCTATATATATAT ATATATACTCTCTCTCTCTCCATATATATATATATATATACTCTATATAT ATATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0108 a0001c0001t0039g0108	1	132	0.0076	171	c.738 others(188): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TACTCTATATATATATATATATATACTCTCTCTCTCTCCATATATATATA TATATACTCTATATATATATATATATACTCTCTCTCTCTCCATATATATA TATATATATACTCTATATATATATATATATATATATATAGAGA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331576	T T	TACTCTAT others(164): Show TACTCTATATATATACTCTATATATATATATATACTCTATATATATATAT ATATACTCTCTCTCTCTCCATATATATATATATATACTCTATATATATAT ATATATATACTCTCTCTCTCTCCATATATATATATATATATACTCTATAT ATATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	132	0.0076	171	c.738 others(188): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TATACTCTATATATATATATATATACTCTCTCTCTCTCCATATATATATA TATATACTCTATATATATATATATATATACTCTCTCTCTCTCCATATATA TATATATATATACTCTATATATATATATATATATATATAGAGA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331576	T T	TACTCTAT others(164): Show TACTCTATATATATACTCTATATATATATATATACTCTATATATATATAT ATATATATACTCTCTCTCTCTCCATATATATATATATATACTCTATATAT ATATATATATACTCTCTCTCTCTCCATATATATATATATATACTCTATAT ATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0090 a0001c0001t0004g0090	1	132	0.0076	171	c.738 others(188): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TATACTCTATATATATATATATATATATACTCTCTCTCTCTCCATATATA TATATATATACTCTATATATATATATATATACTCTCTCTCTCTCCATATA TATATATATATACTCTATATATATATATATATATATAGAGAGA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331576	T T	TACTCTAT others(164): Show TACTCTATATATATACTCTATATATATATATATACTCTATATATATATAT ATATATATACTCTCTCTCTCTCCATATATATATATATATACTCTATATAT ATATATATATACTCTCTCTCTCTCCATATATATATATATATACTCTATAT ATATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA19240.hp1 HG02451.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0004 a0001c0001t0009g0001 a0001c0001t0002g0004 a0001c0001t0009g0001	2	132	0.0152	171	c.738 others(188): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TATACTCTATATATATATATATATATATACTCTCTCTCTCTCCATATATA TATATATATACTCTATATATATATATATATACTCTCTCTCTCTCCATATA TATATATATATACTCTATATATATATATATATATATATAGAGA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331576	T T	TACTCTAT others(164): Show TACTCTATATATATACTCTATATATATATATATACTCTATATATATATAT ATATATATACTCTCTCTCTCTCCATATATATATATATATACTCTATATAT ATATATATATACTCTCTCTCTCTCCATATATATATATATATATACTCTAT ATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA20905.hp1 HG03834.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0020 a0001c0001t0016 a0001c0001t0020	a0001c0001t0016g0103 a0001c0001t0020g0131 a0001c0001t0016g0103 a0001c0001t0020g0131	2	132	0.0152	171	c.738 others(188): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TATACTCTATATATATATATATATATATACTCTCTCTCTCTCCATATATA TATATATATACTCTATATATATATATATATACTCTCTCTCTCTCCATATA TATATATATATATACTCTATATATATATATATATATAGAGAGA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331576	T T	TACTCTAT others(164): Show TACTCTATATATATACTCTATATATATATATATACTCTATATATATATAT ATATATATACTCTCTCTCTCTCCATATATATATATATATACTCTATATAT ATATATATATACTCTCTCTCTCTCCATATATATATATATATATACTCTAT ATATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19062.hp1 HG02723.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0083 a0001c0004t0002g0096 a0001c0001t0001g0083 a0001c0004t0002g0096	2	132	0.0152	171	c.738 others(188): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TATACTCTATATATATATATATATATATACTCTCTCTCTCTCCATATATA TATATATATACTCTATATATATATATATATACTCTCTCTCTCTCCATATA TATATATATATATACTCTATATATATATATATATATATAGAGA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331576	T T	TACTCTAT others(164): Show TACTCTATATATATACTCTATATATATATATATACTCTATATATATATAT ATATATATACTCTCTCTCTCTCCATATATATATATATATACTCTATATAT ATATATATATACTCTCTCTCTCTCCATATATATATATATATATACTCTAT ATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18955.hp1 HG02027.hp2 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0001 a0001c0001t0028	a0001c0001t0001g0097 a0001c0001t0028g0093 a0001c0001t0001g0097 a0001c0001t0028g0093	2	132	0.0152	171	c.738 others(188): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TATACTCTATATATATATATATATATATACTCTCTCTCTCTCCATATATA TATATATATACTCTATATATATATATATATACTCTCTCTCTCTCCATATA TATATATATATATACTCTATATATATATATATATATATATAGA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331576	T T	TACTCTAT others(164): Show TACTCTATATATATACTCTATATATATATATATATACTCTATATATATAT ATATATATATACTCTCTCTCTCTCCATATATATATATATATACTCTATAT ATATATATATATACTCTCTCTCTCTCCATATATATATATATATACTCTAT ATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0058 a0001c0004t0002g0058	1	132	0.0076	171	c.738 others(188): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TATATACTCTATATATATATATATATATATACTCTCTCTCTCTCCATATA TATATATATATACTCTATATATATATATATATACTCTCTCTCTCTCCATA TATATATATATATACTCTATATATATATATATATATATATAGA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAPG2_chr7_158626169_158709804	158667840	C C	CCTTACCC others(164): Show CCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCC TCCGCCCTCCTTACCCACTACTGGGTCCCTCCGTCCTCCTTACCCACTAC TGGGTCCCTCCGCCCTCCTTACCTACCCTCTGGCCCTCCACCCTCTTACC CACTACTGGGTCCCTCCGCCCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0015 a0015	a0015c0013 a0015c0013	a0015c0013t0002 a0015c0013t0002	a0015c0013t0002g0016 a0015c0013t0002g0016	1	378	0.0027	171	c.148 others(190): Show c.1480-3091_1480-3090insAGGGCGGAGGGACCCAGTAGTGGGTA AGAGGGTGGAGGGCCAGAGGGTAGGTAAGGAGGGCGGAGGGACCCAGTAG TGGGTAAGGAGGACGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGA CCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158667934	C C	CCACTACT others(164): Show CCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCA CGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGT CCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCAC TACTGGGTCCCTCCGCCCGCCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	378	0.0027	171	c.148 others(190): Show c.1480-3185_1480-3184insAGGCGGGCGGAGGGACCCAGTAGTGG GTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCC AGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGTGCG GAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NEU4_chr2_241804193_241822413	241805963	T T	TCTGCAGG others(164): Show TCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA CCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGGACCTCGGCAGGCCACCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	319	0.0031	171	c.-33 others(182): Show c.-3315_-3314insCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACGTCTGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCGGCAGGCCACCCTC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3229		chr2	TogoVar
NEU4_chr2_241804193_241822413	241819297	C C	CGTGTGTC others(164): Show CGTGTGTCCTGCCTCGTGGTGTGTGTGTAGGTTGTGTTCTGGGTGCATCC TCTCATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTAGCTCGCGTGCTGGG TGCATCCTCTCATGTGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGCG TGCTGGGTGCATCCTCTCATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG02818.hp2 HG03098.hp1 HG01099.hp2 HG02818.hp2 HG03098.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0106 a0002c0003t0003g0107 a0002c0003t0003g0111 a0002c0003t0003g0106 a0002c0003t0003g0107 a0002c0003t0003g0111	3	319	0.0094	171	c.22 others(182): Show c.2249_*2250insGTGTGTCCTGCCTCGTGGTGTGTGTGTAGGTTGT GTTCTGGGTGCATCCTCTCATGCGTGTGTCCTGGCTCGTGGCCCGTGTGT AGCTCGCGTGCTGGGTGCATCCTCTCATGTGTGTGTCCTGGCTCGTGGCC CGTGTGTAGGTCGCGTGCTGGGTGCATCCTCTCATGT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1885		chr2	TogoVar
NEU4_chr2_241804193_241822413	241820036	C C	CGTGTGTC others(164): Show CGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGTGTGCTGGGTGCATCC TGTCATGCGTGTGTCCTGGCTCATGGCCCGTGTGCTGGGTGTGTGCTGGG TGCATCCTGTCATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGTG TGCTGGGTGCATCCTCTCATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0125 a0001c0001t0004g0125	1	319	0.0031	171	c.29 others(182): Show c.2988_*2989insGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGT GTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGGCTCATGGCCCGTGTGC TGGGTGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGGCTCGTGGCC CGTGTGTAGGTCGTGTGCTGGGTGCATCCTCTCATGT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2624		chr2	TogoVar
NFATC1_chr18_79390930_79534323	79400824	A A	ACCCCTCC others(164): Show ACCCCTCCCCCGACCTCCCCCCCGCGCCCCGACCTCCTCCCTGTTCCCTC CCCCGACCTCCCCCTTCCCCCCCGACCTACACCCCGCCCCCCTACCTCCC CCCTCCCCGTGACCTGCCCCCCAGAACTCCTCCCCATCCCGCCCCCCTAC CTCCCCCCTCCCCGTGACCTGC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0194 a0002c0003t0001g0194	1	322	0.0031	171	c.127 others(188): Show c.127+4477_127+4478insTCCCCCGACCTCCCCCCCGCGCCCCGAC CTCCTCCCTGTTCCCTCCCCCGACCTCCCCCTTCCCCCCCGACCTACACC CCGCCCCCCTACCTCCCCCCTCCCCGTGACCTGCCCCCCAGAACTCCTCC CCATCCCGCCCCCCTACCTCCCCCCTCCCCGTGACCTGCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79400833	C C	CCCCTCCC others(164): Show CCCCTCCCCCGACCTCCCCCCCGCGCCCCGACCTCCTCCCTGTTCCCTCC CCCGACCTCCCCCTTCCCCCCCGACCTACACCCCGCCCCCCTACCTCCCC CCTCCCCGTGACCTGCCCCCCAGAACTCCTCCCCATCCCGCCCCCCGACC TCCCCCCGCCCCCCTCCCCCGG	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18962.hp1 HG03516.hp1 NA18962.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0003 a0001c0005 a0002c0003	a0001c0005t0005 a0002c0003t0001 a0001c0005t0005 a0002c0003t0001	a0001c0005t0005g0111 a0002c0003t0001g0234 a0001c0005t0005g0111 a0002c0003t0001g0234	2	322	0.0062	171	c.127 others(188): Show c.127+4485_127+4486insTCCCCCGACCTCCCCCCCGCGCCCCGAC CTCCTCCCTGTTCCCTCCCCCGACCTCCCCCTTCCCCCCCGACCTACACC CCGCCCCCCTACCTCCCCCCTCCCCGTGACCTGCCCCCCAGAACTCCTCC CCATCCCGCCCCCCGACCTCCCCCCGCCCCCCTCCCCCGGCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79400833	C C	CCCCTCCC others(164): Show CCCCTCCCCCGACCTCCCCCCCGCGCCCCGACCTCCTCCCTGTTCCCTCC CCCGACCTCCCCCTTCCTCCCCGACCTACACCCCGCCCCCCTACCTCCCC CCTCCCCGTGACCTGCCCCCCAGAACTCCTCCCCATCCCGCCCCCCGACC TCCCCCCGCCCCCCTCCCCCGG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0032 a0001c0014t0032	a0001c0014t0032g0199 a0001c0014t0032g0199	1	322	0.0031	171	c.127 others(188): Show c.127+4485_127+4486insTCCCCCGACCTCCCCCCCGCGCCCCGAC CTCCTCCCTGTTCCCTCCCCCGACCTCCCCCTTCCTCCCCGACCTACACC CCGCCCCCCTACCTCCCCCCTCCCCGTGACCTGCCCCCCAGAACTCCTCC CCATCCCGCCCCCCGACCTCCCCCCGCCCCCCTCCCCCGGCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79400834	C C	CCCTCCCC others(164): Show CCCTCCCCCGACCTCCCCCCCGCGCCCCGACCTCCTCCCTGTTCCCTCCC CCGACCTCCCCCTTCCCCCCCGACCTACACCCCGCCCCCCTACCTCCCCC CTCCCCGTGACCTGCCCCCCAGAACTCCTCCCCATCCCGCCCCCCGACCT CCGCCCGCCCCCCTCCCCCTGG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0006 a0006	a0006c0030 a0006c0030	a0006c0030t0005 a0006c0030t0005	a0006c0030t0005g0117 a0006c0030t0005g0117	1	322	0.0031	171	c.127 others(188): Show c.127+4485_127+4486insTCCCCCGACCTCCCCCCCGCGCCCCGAC CTCCTCCCTGTTCCCTCCCCCGACCTCCCCCTTCCCCCCCGACCTACACC CCGCCCCCCTACCTCCCCCCTCCCCGTGACCTGCCCCCCAGAACTCCTCC CCATCCCGCCCCCCGACCTCCGCCCGCCCCCCTCCCCCTGGCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79400834	C C	CCCTCCCC others(164): Show CCCTCCCCCGACCTCCCCCCCGCGCCCCGACCTCCTCCCTGTTCCCTCCC CCGACCTCCCCCTTCCCCCCCGACCTACACCCCGCCCCCCTACCTCCCCC CTCCCCGTGACCTGCCCCCCCGAACTCCTCCCCATCCCGCCCCCCGACCT CCCCCCGCCCCCCTCCCCCTGG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp1 HG03195.hp2 HG02109.hp1 HG02615.hp1 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0001c0025 a0002c0002 a0001c0009 a0001c0025 a0002c0002	a0001c0009t0007 a0001c0025t0002 a0002c0002t0038 a0001c0009t0007 a0001c0025t0002 a0002c0002t0038	a0001c0009t0007g0305 a0001c0025t0002g0304 a0002c0002t0038g0122 a0001c0009t0007g0305 a0001c0025t0002g0304 a0002c0002t0038g0122	3	322	0.0093	171	c.127 others(188): Show c.127+4485_127+4486insTCCCCCGACCTCCCCCCCGCGCCCCGAC CTCCTCCCTGTTCCCTCCCCCGACCTCCCCCTTCCCCCCCGACCTACACC CCGCCCCCCTACCTCCCCCCTCCCCGTGACCTGCCCCCCCGAACTCCTCC CCATCCCGCCCCCCGACCTCCCCCCGCCCCCCTCCCCCTGGCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79400834	C C	CCCTCCCC others(164): Show CCCTCCCCCGACCTCCCCCCCGCGCCCCGACCTCCTCCCTGTTCCCTCCC CCGACCTCCCCCTTCCCCCCCGACCTACACCCCGCCCCCCTACCTCCCCC CTCCCCGTGACCTGCTCCCCCGAACTCCTCCCCATCCCGCCCCCCGACCT CCCCCCGCCCCCCTCCCCCTGG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01106.hp1 others(9): Show HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01257.hp2 HG01258.hp2 HG02280.hp2 HG02486.hp2 HG06807.hp2 NA20129.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0024 a0001c0027 others(4): Show a0001c0001 a0001c0024 a0001c0027 a0002c0022 a0003c0007 a0003c0016 a0003c0032	a0001c0001t0030 a0001c0024t0002 a0001c0027t0008 others(5): Show a0001c0001t0030 a0001c0024t0002 a0001c0027t0008 a0002c0022t0007 a0003c0007t0002 a0003c0007t0008 a0003c0016t0002 a0003c0032t0007	a0001c0001t0030g0033 a0001c0001t0030g0034 a0001c0024t0002g0023 others(9): Show a0001c0001t0030g0033 a0001c0001t0030g0034 a0001c0024t0002g0023 a0001c0027t0008g0030 a0002c0022t0007g0022 a0003c0007t0002g0021 a0003c0007t0002g0025 a0003c0007t0008g0029 a0003c0016t0002g0026 a0003c0016t0002g0027 a0003c0016t0002g0028 a0003c0032t0007g0024	12	322	0.0373	171	c.127 others(188): Show c.127+4485_127+4486insTCCCCCGACCTCCCCCCCGCGCCCCGAC CTCCTCCCTGTTCCCTCCCCCGACCTCCCCCTTCCCCCCCGACCTACACC CCGCCCCCCTACCTCCCCCCTCCCCGTGACCTGCTCCCCCGAACTCCTCC CCATCCCGCCCCCCGACCTCCCCCCGCCCCCCTCCCCCTGGCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79504772	C C	CGTGGGAG others(164): Show CGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAG ACTGCTGCGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAG GCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAG GGAAGAGGCAGGAGACTGCTGT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0023 a0002c0003t0023	a0002c0003t0023g0123 a0002c0003t0023g0124 a0002c0003t0023g0123 a0002c0003t0023g0124	2	322	0.0062	171	c.278 others(192): Show c.2782+17891_2782+17892insCGTGGGAGGAGGTGGTGCTGGAGG CCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGGTG CTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGA GGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79504807	G G	GGGAAGAG others(164): Show GGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGGAGGCCCT TGGGTGAGGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGG AGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTG ATGCTGGAGGCCCTTGGGTGAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG02027.hp2 others(16): Show HG00423.hp2 HG00609.hp1 HG02027.hp2 HG02040.hp1 NA18747.hp2 NA18943.hp2 NA18946.hp1 NA18966.hp1 NA18970.hp1 NA18980.hp2 NA18983.hp2 NA18990.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19011.hp1 NA19012.hp2 NA19063.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0006 a0002c0002 a0001c0004 a0001c0006 a0002c0002	a0001c0004t0052 a0001c0006t0003 a0002c0002t0001 others(4): Show a0001c0004t0052 a0001c0006t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0010 a0002c0002t0015	a0001c0004t0052g0088 a0001c0006t0003g0153 a0002c0002t0001g0118 others(16): Show a0001c0004t0052g0088 a0001c0006t0003g0153 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0217 a0002c0002t0001g0232 a0002c0002t0001g0235 a0002c0002t0001g0248 a0002c0002t0001g0261 a0002c0002t0001g0269 a0002c0002t0002g0073 a0002c0002t0003g0141 a0002c0002t0003g0142 a0002c0002t0003g0150 a0002c0002t0010g0265 a0002c0002t0015g0243 a0002c0002t0015g0249	19	322	0.0590	171	c.278 others(192): Show c.2782+17891_2782+17892insCGTGGGAGGAGGTGGTGCTGGAGG CCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGGTG CTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGA GGTGATGCTGGAGGCCCTTGGGTGATGGAAGAGGCAGGAGACTGCTG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79505263	T T	TGGAAGAG others(164): Show TGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGGAGGCCCT TGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGGATG AGACCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTG GTGCTGGAGGCCCTTGGGTGAG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01123.hp2 HG06807.hp2 HG01106.hp1 HG01123.hp2 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0045 a0003c0016 a0003c0032 a0001c0045 a0003c0016 a0003c0032	a0001c0045t0001 a0003c0016t0002 a0003c0032t0007 a0001c0045t0001 a0003c0016t0002 a0003c0032t0007	a0001c0045t0001g0214 a0003c0016t0002g0028 a0003c0032t0007g0024 a0001c0045t0001g0214 a0003c0016t0002g0028 a0003c0032t0007g0024	3	322	0.0093	171	c.278 others(192): Show c.2782+18404_2782+18405insTGTGGGAGGAGGTGGTGGATGAGA CCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTG CTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGCGTGGGAGGA GGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79505662	T T	TGGAAGAG others(164): Show TGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGCTGGAGGCCCT TGGGTGAGGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGG AGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTG GTGGATGAGACCCTTGGGTGAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(117): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02155.hp2 HG02257.hp1 HG02280.hp2 HG02300.hp1 HG02602.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG03017.hp2 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp2 NA18747.hp2 NA18939.hp1 NA18943.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18970.hp1 NA18971.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18990.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19057.hp1 NA19063.hp1 NA19063.hp2 NA19067.hp1 NA19079.hp2 NA19081.hp2 NA19088.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0011	a0001c0001 a0001c0004 a0001c0006 others(20): Show a0001c0001 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0001c0015 a0001c0024 a0001c0045 a0002c0002 a0002c0003 a0002c0011 a0002c0012 a0002c0022 a0002c0023 a0002c0026 a0002c0039 a0002c0057 a0002c0058 a0003c0007 a0003c0016 a0003c0032 a0006c0030 a0011c0049	a0001c0001t0001 a0001c0001t0004 a0001c0004t0002 others(56): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0002 a0001c0004t0052 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0008t0002 a0001c0008t0003 a0001c0008t0004 a0001c0009t0010 a0001c0015t0002 a0001c0015t0010 a0001c0015t0021 a0001c0024t0001 a0001c0024t0002 a0001c0045t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 a0002c0002t0010 a0002c0002t0013 a0002c0002t0015 a0002c0002t0017 a0002c0002t0038 a0002c0002t0044 a0002c0002t0058 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0006 a0002c0003t0007 a0002c0003t0010 a0002c0003t0013 a0002c0003t0022 a0002c0003t0023 a0002c0003t0057 a0002c0011t0001 a0002c0011t0002 a0002c0012t0002 a0002c0012t0006 a0002c0012t0027 a0002c0012t0043 a0002c0022t0001 a0002c0022t0007 a0002c0023t0019 a0002c0026t0001 a0002c0026t0005 a0002c0039t0001 a0002c0057t0002 a0002c0058t0001 a0003c0007t0001 a0003c0007t0002 a0003c0016t0002 a0003c0032t0007 a0006c0030t0005 a0011c0049t0002	a0001c0001t0001g0006 a0001c0001t0001g0257 a0001c0001t0004g0092 others(116): Show a0001c0001t0001g0006 a0001c0001t0001g0257 a0001c0001t0004g0092 a0001c0004t0002g0001 a0001c0004t0052g0088 a0001c0006t0001g0244 a0001c0006t0001g0254 a0001c0006t0002g0076 a0001c0006t0003g0153 a0001c0006t0003g0155 a0001c0006t0003g0163 a0001c0006t0003g0167 a0001c0006t0003g0183 a0001c0008t0002g0060 a0001c0008t0002g0062 a0001c0008t0002g0077 a0001c0008t0003g0151 a0001c0008t0004g0085 a0001c0009t0010g0225 a0001c0015t0002g0067 a0001c0015t0010g0271 a0001c0015t0021g0238 a0001c0024t0001g0266 a0001c0024t0002g0023 a0001c0045t0001g0214 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0215 a0002c0002t0001g0217 a0002c0002t0001g0220 a0002c0002t0001g0227 a0002c0002t0001g0232 a0002c0002t0001g0235 a0002c0002t0001g0248 a0002c0002t0001g0261 a0002c0002t0001g0269 a0002c0002t0002g0087 a0002c0002t0003g0141 a0002c0002t0003g0150 a0002c0002t0003g0174 a0002c0002t0003g0175 a0002c0002t0003g0187 a0002c0002t0009g0169 a0002c0002t0010g0265 a0002c0002t0010g0278 a0002c0002t0013g0159 a0002c0002t0013g0191 a0002c0002t0015g0243 a0002c0002t0015g0249 a0002c0002t0015g0263 a0002c0002t0015g0273 a0002c0002t0017g0158 a0002c0002t0017g0164 a0002c0002t0017g0166 a0002c0002t0038g0122 a0002c0002t0044g0107 a0002c0002t0058g0245 a0002c0003t0001g0194 a0002c0003t0001g0209 a0002c0003t0001g0210 a0002c0003t0001g0211 a0002c0003t0001g0212 a0002c0003t0001g0213 a0002c0003t0001g0216 a0002c0003t0001g0222 a0002c0003t0001g0223 a0002c0003t0001g0231 a0002c0003t0001g0234 a0002c0003t0001g0241 a0002c0003t0001g0252 a0002c0003t0001g0253 a0002c0003t0001g0255 a0002c0003t0001g0258 a0002c0003t0002g0064 a0002c0003t0003g0182 a0002c0003t0004g0193 a0002c0003t0004g0260 a0002c0003t0006g0039 a0002c0003t0007g0036 a0002c0003t0010g0270 a0002c0003t0013g0130 a0002c0003t0013g0165 a0002c0003t0022g0205 a0002c0003t0023g0123 a0002c0003t0023g0124 a0002c0003t0057g0246 a0002c0011t0001g0228 a0002c0011t0002g0293 a0002c0011t0002g0294 a0002c0011t0002g0302 a0002c0012t0002g0086 a0002c0012t0002g0292 a0002c0012t0002g0295 a0002c0012t0002g0299 a0002c0012t0006g0045 a0002c0012t0027g0038 a0002c0012t0027g0040 a0002c0012t0043g0044 a0002c0022t0001g0196 a0002c0022t0001g0230 a0002c0022t0007g0022 a0002c0023t0019g0317 a0002c0023t0019g0318 a0002c0023t0019g0319 a0002c0026t0001g0239 a0002c0026t0005g0066 a0002c0039t0001g0226 a0002c0057t0002g0069 a0002c0058t0001g0256 a0003c0007t0001g0206 a0003c0007t0002g0025 a0003c0016t0002g0026 a0003c0016t0002g0027 a0003c0016t0002g0028 a0003c0032t0007g0024 a0006c0030t0005g0117 a0011c0049t0002g0306	120	322	0.3727	171	c.278 others(192): Show c.2782+18803_2782+18804insCGTGGGAGGAGGTGGTGCTGGAGG CCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTG GATGAGACCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGA GGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79505662	T T	TGGAAGAG others(164): Show TGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGCTGGAGGCCCT TGGGTGATGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGG AGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTG GTGGATGAGACCCTTGGGTGAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0143	1	322	0.0031	171	c.278 others(192): Show c.2782+18781_2782+18782insTGGAAGAGGCAGGAGACTGCTGCG TGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGAC TGCTGTGTGGGAGGAGGTGGTGGATGAGACCCTTGGGTGAGGGAAGAGGC AGGAGACTGCTGTGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGA	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79505684	T T	TGTGGGAG others(164): Show TGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAG ACTGCTGTGTGGGAGGAGGTGGTGGATGAGACCCTTGGGTGAGGGAAGAG GCAGGAGACTGCTGTGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAG GGAAGAGGCAGGAGACTGCTGC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0100 a0001c0001t0006g0100	1	322	0.0031	171	c.278 others(192): Show c.2782+18778_2782+18948dupGTGAGGGAAGAGGCAGGAGACTGC TGTGTGGGAGGAGGTGGTGGATGAGACCCTTGGGTGAGGGAAGAGGCAGG AGACTGCTGTGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAG AGGCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGGAGGCCCTTGG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79505776	G G	GGGAAGAG others(164): Show GGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGCTGGAGGCCCT TGGGTGAGGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGG AGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTG GTGGATGAGACCCTTGGGTGAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0190 a0001c0001t0012g0190	1	322	0.0031	171	c.278 others(192): Show c.2782+18948_2782+18949insGTGAGGGAAGAGGCAGGAGACTGC TGTGTGGGAGGAGGTGGTGGATGAGACCCTTGGGTGATGGAAGAGGCAGG AGACTGCTGTGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAG AGGCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGGAGGCCCTTGG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NLRP13_chr19_55890945_55937336	55931710	A A	AAAGAAAG others(164): Show AAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGACAG AAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAA AGAAAGACAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA19064.hp2 NA18950.hp1 NA19064.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0047 a0002c0003t0001g0048 a0002c0003t0001g0047 a0002c0003t0001g0048	2	440	0.0046	171	c.319 others(186): Show c.319+282_319+283insCTTTCTTTCTTTCTGTCTTTCTTTCTGTCT TTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTGTCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTT	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP13_chr19_55890945_55937336	55931710	A A	AAAGAAAG others(164): Show AAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGACAGAAAG AAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAA AGACAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18747.hp1 NA18973.hp2 others(1): Show HG02129.hp1 NA18747.hp1 NA18973.hp2 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0020 a0002c0003 a0001c0020 a0002c0003	a0001c0020t0001 a0002c0003t0001 a0001c0020t0001 a0002c0003t0001	a0001c0020t0001g0064 a0002c0003t0001g0065 a0002c0003t0001g0066 others(1): Show a0001c0020t0001g0064 a0002c0003t0001g0065 a0002c0003t0001g0066 a0002c0003t0001g0067	4	440	0.0091	171	c.319 others(186): Show c.319+282_319+283insCTTTCTTTCTTTCTTTCTGTCTTTCTTTCT GTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTGTCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTT	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar

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