Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(548): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGTTT TAAACTAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTAAAACT ATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTAAAACTAT AGTTTATATAGTTTAAAACTATATAGTTTAGTTTTAAACTATATAGTTTA AACTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTAGTTTAT ATATAGTTTTAAACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTA TATAGTTTATGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATA TAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTT TTAAACTATATAGTTCATGTAGTTTTAAACTATATAGTTTAAAACTATAT AGTTTATGTAGTTTTAAACTAGTTTATATTTTTTTATATAGTTTAAACTA TATAGT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0184 a0002c0004t0001g0184	1	244	0.0041	555	c.342 others(574): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAA ACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAACTACATAAAC TATATAGTTTAAACTAGTTTAAAACTATATATAAACTAGTTTAAAACTAT ATAGTTTATATAGTTTAAAACTATATAGTTTAAACTATATAGTTTAAAAC TAAACTATATAGTTTTAAACTATATAAACTATAGTTTTAAACTATATAAA CTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACT ATATAGTTTTAAACTATATAAACTAGTTTAAAACTATATATAAACTATAT AGTTTAAAACTATAAACTATATAGTTTAAAACTATATATAAACTATATAG TTTAAAACTATAAACTATATAGTTTAAAA		NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30						chr1	TogoVar
PANK4_chr1_2503537_2531596	2522791	C C	CTATAGTG others(548): Show CTATAGTGACTTAACGGAGGGCACTGTGTATGCTATAGTGACTTAACGGA GGGCACCGTGTGTGTTATAGTGACTTAACGGAGAGCACCGTATGGTGCTA TAGTGACTTAACGGAGGGCACTGTGTGTGTTACAGTGACTTAACGGAGGG CACCGTGTGTGTTATAGTGACTTAACGGAGGGCACCGTATGGTGCTATAG TGACTTAACGGAGGGCACCGTATGGTGCTATAGTGACTTAACGGAGGGGA CCGTGTGGTGCTATAGTGACTTAACGGAGGGCATTGTGTGTGCTATAGTG ACTTAACGGAGGGCACCGTACGGTGCTATAGTGACTTAACGGAGGGCACT GTGTGTGCTAAAGTGACTTAACGGAGGGGACCGTGTGGTGTTATAGTGAC TTAACGGAGGGCACCGGATGGTGCTATAGTGACTTAACGGAAGGGACCGT GTGGTGTTATAGTGACTTAACGGAGGGCACTGGATGGTGCTATAGTGACT TAACGGAGGGGACCGTGTGGTGTTATAGTGACTTAACGGAGGGCACCGTG TGGTGT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18971.hp2 NA18939.hp2 NA18971.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0039 a0003c0002t0001g0039	2	399	0.0050	555	c.125 others(570): Show c.125-992_125-991insACACCACACGGTGCCCTCCGTTAAGTCACT ATAACACCACACGGTCCCCTCCGTTAAGTCACTATAGCACCATCCAGTGC CCTCCGTTAAGTCACTATAACACCACACGGTCCCTTCCGTTAAGTCACTA TAGCACCATCCGGTGCCCTCCGTTAAGTCACTATAACACCACACGGTCCC CTCCGTTAAGTCACTTTAGCACACACAGTGCCCTCCGTTAAGTCACTATA GCACCGTACGGTGCCCTCCGTTAAGTCACTATAGCACACACAATGCCCTC CGTTAAGTCACTATAGCACCACACGGTCCCCTCCGTTAAGTCACTATAGC ACCATACGGTGCCCTCCGTTAAGTCACTATAGCACCATACGGTGCCCTCC GTTAAGTCACTATAACACACACGGTGCCCTCCGTTAAGTCACTGTAACAC ACACAGTGCCCTCCGTTAAGTCACTATAGCACCATACGGTGCTCTCCGTT AAGTCACTATAACACACACGGTGCCCTCCGTTAAGTCACTATAGCATACA CAGTGCCCTCCGTTAAGTCACTATA		PANK4	ENSG00000157881.16	transcript	ENST00000378466.9	protein_coding	1/18						chr1	TogoVar
PANK4_chr1_2503537_2531596	2522791	C C	CTATAGTG others(548): Show CTATAGTGACTTAACGGAGGGCACTGTGTATGCTATAGTGACTTAACGGA GGGCACCGTGTGTGTTATAGTGACTTAACGGAGAGCACCGTATGGTGCTA TAGTGACTTAACGGAGGGCACTGTGTGTGTTATAGTGACTTAACGGAGGG CACCGTGTGTGTTATAGTGACTTAACGGAGGGCACCGTATGGTGCTATAG TGACTTAACGGAGGGCACCGTATGGTGCTATAGTGACTTAACGGAGGGGA CCGTGTGGTGCTATAGTGACTTAACGGAGGGCATTGTGTGTGCTATAGTG ACTTAACGGAGGGCACCGTACGGTGCTATAGTGACTTAACGGAGGGCACT GTGTGTGCTAAAGTGACTTAACGGAGGGGACCGTGTGGTGTTATAGTGAC TTAACGGAGGGCACCGGATGGTGCTATAGTGACTTAACGGAAGGGACCGT GTGGTGTTATAGTGACTTAACGGAGGGCACTGGATGGTGCTATAGTGACT TAACGGAGGGGACCGTGTGGTGTTATAGTGACTTAACGGAGGGCACCGTG TGGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(118): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01169.hp1 HG01192.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01978.hp1 HG02004.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02300.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03239.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18951.hp1 NA18952.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18964.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18990.hp1 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19054.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19078.hp1 NA19080.hp1 NA19081.hp2 NA19085.hp1 NA19087.hp1 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0009 a0002 a0003 a0009	a0002c0003 a0003c0002 a0003c0012 others(3): Show a0002c0003 a0003c0002 a0003c0012 a0003c0022 a0003c0023 a0009c0020	a0002c0003t0001 a0003c0002t0001 a0003c0012t0001 others(3): Show a0002c0003t0001 a0003c0002t0001 a0003c0012t0001 a0003c0022t0001 a0003c0023t0001 a0009c0020t0001	a0002c0003t0001g0005 a0002c0003t0001g0017 a0002c0003t0001g0034 others(36): Show a0002c0003t0001g0005 a0002c0003t0001g0017 a0002c0003t0001g0034 a0002c0003t0001g0124 a0002c0003t0001g0126 a0002c0003t0001g0131 a0002c0003t0001g0136 a0002c0003t0001g0142 a0003c0002t0001g0001 a0003c0002t0001g0003 a0003c0002t0001g0011 a0003c0002t0001g0018 a0003c0002t0001g0038 a0003c0002t0001g0040 a0003c0002t0001g0042 a0003c0002t0001g0114 a0003c0002t0001g0125 a0003c0002t0001g0127 a0003c0002t0001g0128 a0003c0002t0001g0129 a0003c0002t0001g0130 a0003c0002t0001g0132 a0003c0002t0001g0133 a0003c0002t0001g0134 a0003c0002t0001g0135 a0003c0002t0001g0139 a0003c0002t0001g0158 a0003c0002t0001g0159 a0003c0002t0001g0162 a0003c0002t0001g0163 a0003c0002t0001g0164 a0003c0002t0001g0165 a0003c0002t0001g0166 a0003c0002t0001g0168 a0003c0002t0001g0180 a0003c0012t0001g0044 a0003c0022t0001g0137 a0003c0023t0001g0181 a0009c0020t0001g0169	121	399	0.3033	555	c.125 others(570): Show c.125-992_125-991insACACCACACGGTGCCCTCCGTTAAGTCACT ATAACACCACACGGTCCCCTCCGTTAAGTCACTATAGCACCATCCAGTGC CCTCCGTTAAGTCACTATAACACCACACGGTCCCTTCCGTTAAGTCACTA TAGCACCATCCGGTGCCCTCCGTTAAGTCACTATAACACCACACGGTCCC CTCCGTTAAGTCACTTTAGCACACACAGTGCCCTCCGTTAAGTCACTATA GCACCGTACGGTGCCCTCCGTTAAGTCACTATAGCACACACAATGCCCTC CGTTAAGTCACTATAGCACCACACGGTCCCCTCCGTTAAGTCACTATAGC ACCATACGGTGCCCTCCGTTAAGTCACTATAGCACCATACGGTGCCCTCC GTTAAGTCACTATAACACACACGGTGCCCTCCGTTAAGTCACTATAACAC ACACAGTGCCCTCCGTTAAGTCACTATAGCACCATACGGTGCTCTCCGTT AAGTCACTATAACACACACGGTGCCCTCCGTTAAGTCACTATAGCATACA CAGTGCCCTCCGTTAAGTCACTATA		PANK4	ENSG00000157881.16	transcript	ENST00000378466.9	protein_coding	1/18						chr1	TogoVar
PANK4_chr1_2503537_2531596	2522791	C C	CTATAGTG others(548): Show CTATAGTGACTTAACGGAGGGCACTGTGTATGCTATAGTGACTTAACGGA GGGCACCGTGTGTGTTATAGTGACTTAACGGAGAGCACCGTATGGTGCTA TAGTGACTTAACGGAGGGCACTGTGTGTGTTATAGTGACTTAACGGAGGG CACCGTGTGTGTTATAGTGACTTAACGGAGGGCACCGTATGGTGCTATAG TGACTTAACGGAGGGCACCGTATGGTGCTATAGTGACTTAACGGAGGGGA CCGTGTGGTGCTATAGTGACTTAACGGAGGGCATTGTGTGTGCTATAGTG ACTTAACGGAGGGCACCGTACGGTGCTATAGTGACTTAATGGAGGGCACT GTGTGTGCTAAAGTGACTTAACGGAGGGGACCGTGTGGTGTTATAGTGAC TTAACGGAGGGCACCGGATGGTGCTATAGTGACTTAACGGAAGGGACCGT GTGGTGTTATAGTGACTTAACGGAGGGCACTGGATGGTGCTATAGTGACT TAACGGAGGGGACCGTGTGGTGTTATAGTGACTTAACGGAGGGCACCGTG TGGTGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG01167.hp2 others(9): Show HG00423.hp1 HG00544.hp1 HG01167.hp2 HG01169.hp2 HG02129.hp1 NA18948.hp1 NA18950.hp1 NA18955.hp1 NA18969.hp1 NA18980.hp2 NA18991.hp2 NA18995.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0004c0010 a0002c0003 a0004c0010	a0002c0003t0001 a0004c0010t0001 a0002c0003t0001 a0004c0010t0001	a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0117 others(6): Show a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0117 a0002c0003t0001g0118 a0002c0003t0001g0119 a0002c0003t0001g0120 a0002c0003t0001g0121 a0002c0003t0001g0122 a0004c0010t0001g0033	12	399	0.0301	555	c.125 others(570): Show c.125-992_125-991insACACCACACGGTGCCCTCCGTTAAGTCACT ATAACACCACACGGTCCCCTCCGTTAAGTCACTATAGCACCATCCAGTGC CCTCCGTTAAGTCACTATAACACCACACGGTCCCTTCCGTTAAGTCACTA TAGCACCATCCGGTGCCCTCCGTTAAGTCACTATAACACCACACGGTCCC CTCCGTTAAGTCACTTTAGCACACACAGTGCCCTCCATTAAGTCACTATA GCACCGTACGGTGCCCTCCGTTAAGTCACTATAGCACACACAATGCCCTC CGTTAAGTCACTATAGCACCACACGGTCCCCTCCGTTAAGTCACTATAGC ACCATACGGTGCCCTCCGTTAAGTCACTATAGCACCATACGGTGCCCTCC GTTAAGTCACTATAACACACACGGTGCCCTCCGTTAAGTCACTATAACAC ACACAGTGCCCTCCGTTAAGTCACTATAGCACCATACGGTGCTCTCCGTT AAGTCACTATAACACACACGGTGCCCTCCGTTAAGTCACTATAGCATACA CAGTGCCCTCCGTTAAGTCACTATA		PANK4	ENSG00000157881.16	transcript	ENST00000378466.9	protein_coding	1/18						chr1	TogoVar
PANK4_chr1_2503537_2531596	2522791	C C	CTATAGTG others(548): Show CTATAGTGACTTAACGGAGGGCACTGTGTATGCTATAGTGACTTAACGGA GGGCACCGTGTGTGTTATAGTGACTTAACGGAGAGCACCGTATGGTGCTA TAGTGACTTAACGGAGGGCACTGTGTGTGTTATAGTGACTTAACGGAGGG CACCGTGTGTGTTATAGTGACTTAACGGAGGGCACCGTATGGTGCTATAG TGACTTAACGGAGGGCACCGTATGGTGCTATAGTGACTTAACGGAGGGGA CCGTGTGGTGCTATAGTGACTTAACGGAGGGCATTGTGTGTGCTATAGTG ACTTAATGGAGGGCACCGTACGGTGCTATAGTGACTTAACGGAGGGCACT GTGTGTGCTAAAGTGACTTAACGGAGGGGACCGTGTGGTGTTATAGTGAC TTAACGGAGGGCACCGGATGGTGCTATAGTGACTTAACGGAAGGGACCGT GTGGTGTTATAGTGACTTAACGGAGGGCACTGGATGGTGCTATAGTGACT TAACGGAGGGGACCGTGTGGTGTTATAGTGACTTAACGGAGGGCACCGTG TGGTGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG00621.hp1 others(27): Show HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp2 HG01258.hp2 HG01433.hp2 HG01952.hp1 HG01993.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02155.hp2 HG02273.hp2 HG03834.hp1 NA18946.hp2 NA18950.hp2 NA18957.hp2 NA18973.hp1 NA18981.hp1 NA18985.hp1 NA18994.hp1 NA19002.hp2 NA19007.hp1 NA19010.hp2 NA19065.hp1 NA19067.hp1 NA19085.hp2 NA19091.hp1	a0002 a0010 a0002 a0010	a0002c0003 a0010c0016 a0002c0003 a0010c0016	a0002c0003t0001 a0010c0016t0001 a0002c0003t0001 a0010c0016t0001	a0002c0003t0001g0006 a0002c0003t0001g0007 a0002c0003t0001g0022 others(5): Show a0002c0003t0001g0006 a0002c0003t0001g0007 a0002c0003t0001g0022 a0002c0003t0001g0050 a0002c0003t0001g0052 a0002c0003t0001g0053 a0002c0003t0001g0054 a0010c0016t0001g0051	30	399	0.0752	555	c.125 others(570): Show c.125-992_125-991insACACCACACGGTGCCCTCCGTTAAGTCACT ATAACACCACACGGTCCCCTCCGTTAAGTCACTATAGCACCATCCAGTGC CCTCCGTTAAGTCACTATAACACCACACGGTCCCTTCCGTTAAGTCACTA TAGCACCATCCGGTGCCCTCCGTTAAGTCACTATAACACCACACGGTCCC CTCCGTTAAGTCACTTTAGCACACACAGTGCCCTCCGTTAAGTCACTATA GCACCGTACGGTGCCCTCCATTAAGTCACTATAGCACACACAATGCCCTC CGTTAAGTCACTATAGCACCACACGGTCCCCTCCGTTAAGTCACTATAGC ACCATACGGTGCCCTCCGTTAAGTCACTATAGCACCATACGGTGCCCTCC GTTAAGTCACTATAACACACACGGTGCCCTCCGTTAAGTCACTATAACAC ACACAGTGCCCTCCGTTAAGTCACTATAGCACCATACGGTGCTCTCCGTT AAGTCACTATAACACACACGGTGCCCTCCGTTAAGTCACTATAGCATACA CAGTGCCCTCCGTTAAGTCACTATA		PANK4	ENSG00000157881.16	transcript	ENST00000378466.9	protein_coding	1/18						chr1	TogoVar
PANK4_chr1_2503537_2531596	2522791	C C	CTATAGTG others(548): Show CTATAGTGACTTAACGGAGGGCACTGTGTATGCTATAGTGACTTAACGGA GGGCACCGTGTGTGTTATAGTGACTTAACGGAGAGTACCGTATGGTGCTA TAGTGACTTAACGGAGGGCACTGTGTGTGTTATAGTGACTTAACGGAGGG CACCGTGTGTGTTATAGTGACTTAACGGAGGGCACCGTATGGTGCTATAG TGACTTAACGGAGGGCACCGTATGGTGCTATAGTGACTTAACGGAGGGGA CCGTGTGGTGCTATAGTGACTTAACGGAGGGCATTGTGTGTGCTATAGTG ACTTAACGGAGGGCACCGTACGGTGCTATAGTGACTTAACGGAGGGCACT GTGTGTGCTAAAGTGACTTAACGGAGGGGACCGTGTGGTGTTATAGTGAC TTAACGGAGGGCACCGGATGGTGCTATAGTGACTTAACGGAAGGGACCGT GTGGTGTTATAGTGACTTAACGGAGGGCACTGGATGGTGCTATAGTGACT TAACGGAGGGGACCGTGTGGTGTTATAGTGACTTAACGGAGGGCACCGTG TGGTGT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0123 a0003c0002t0001g0123	1	399	0.0025	555	c.125 others(570): Show c.125-992_125-991insACACCACACGGTGCCCTCCGTTAAGTCACT ATAACACCACACGGTCCCCTCCGTTAAGTCACTATAGCACCATCCAGTGC CCTCCGTTAAGTCACTATAACACCACACGGTCCCTTCCGTTAAGTCACTA TAGCACCATCCGGTGCCCTCCGTTAAGTCACTATAACACCACACGGTCCC CTCCGTTAAGTCACTTTAGCACACACAGTGCCCTCCGTTAAGTCACTATA GCACCGTACGGTGCCCTCCGTTAAGTCACTATAGCACACACAATGCCCTC CGTTAAGTCACTATAGCACCACACGGTCCCCTCCGTTAAGTCACTATAGC ACCATACGGTGCCCTCCGTTAAGTCACTATAGCACCATACGGTGCCCTCC GTTAAGTCACTATAACACACACGGTGCCCTCCGTTAAGTCACTATAACAC ACACAGTGCCCTCCGTTAAGTCACTATAGCACCATACGGTACTCTCCGTT AAGTCACTATAACACACACGGTGCCCTCCGTTAAGTCACTATAGCATACA CAGTGCCCTCCGTTAAGTCACTATA		PANK4	ENSG00000157881.16	transcript	ENST00000378466.9	protein_coding	1/18						chr1	TogoVar
PANK4_chr1_2503537_2531596	2522791	C C	CTATAGTG others(548): Show CTATAGTGACTTAACGGAGGGCACTGTGTATGCTATAGTGACTTAACGGA GGGCACCGTGTGTGTTATAGTGACTTAACGGAGGGCACCGTATGGTGCTA TAGTGACTTAACGGAGGGCACTGTGTGTGTTATAGTGACTTAACGGAGGG CACCGTGTGTGTTATAGTGACTTAACGGAGGGCACCGTATGGTGCTATAG TGACTTAACGGAGGGCACCGTATGGTGCTATAGTGACTTAACGGAGGGGA CCGTGTGGTGCTATAGTGACTTAACGGAGGGCATTGTGTGTGCTATAGTG ACTTAACGGAGGGCACCGTACGGTGCTATAGTGACTTAACGGAGGGCACT GTGTGTGCTAAAGTGACTTAACGGAGGGGAACGTGTGGTGTTATAGTGAC TTAACGGAGGGCACCGGATGGTGCTATAGTGACTTAACGGAAGGGACCGT GTGGTGTTATAGTGACTTAACGGAGGGCACTGGATGGTGCTATAGTGACT TAACGGAGGGGACCGTGTGGTGTTATAGTGACTTAACGGAGGGCACCGTG TGGTGT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0063 a0002c0013t0001g0063	1	399	0.0025	555	c.125 others(570): Show c.125-992_125-991insACACCACACGGTGCCCTCCGTTAAGTCACT ATAACACCACACGGTCCCCTCCGTTAAGTCACTATAGCACCATCCAGTGC CCTCCGTTAAGTCACTATAACACCACACGGTCCCTTCCGTTAAGTCACTA TAGCACCATCCGGTGCCCTCCGTTAAGTCACTATAACACCACACGTTCCC CTCCGTTAAGTCACTTTAGCACACACAGTGCCCTCCGTTAAGTCACTATA GCACCGTACGGTGCCCTCCGTTAAGTCACTATAGCACACACAATGCCCTC CGTTAAGTCACTATAGCACCACACGGTCCCCTCCGTTAAGTCACTATAGC ACCATACGGTGCCCTCCGTTAAGTCACTATAGCACCATACGGTGCCCTCC GTTAAGTCACTATAACACACACGGTGCCCTCCGTTAAGTCACTATAACAC ACACAGTGCCCTCCGTTAAGTCACTATAGCACCATACGGTGCCCTCCGTT AAGTCACTATAACACACACGGTGCCCTCCGTTAAGTCACTATAGCATACA CAGTGCCCTCCGTTAAGTCACTATA		PANK4	ENSG00000157881.16	transcript	ENST00000378466.9	protein_coding	1/18						chr1	TogoVar
PANK4_chr1_2503537_2531596	2522791	C C	CTATAGTG others(548): Show CTATAGTGACTTAACGGAGGGCACTGTGTATGCTATAGTGACTTAACGGA GGGCACCGTGTGTGTTATAGTGACTTAACGGAGGGCACCGTATGGTGCTA TAGTGACTTAACGGAGGGCACTGTGTGTGTTATAGTGACTTAACGGAGGG CACCGTGTGTGTTATAGTGACTTAACGGAGGGCACCGTATGGTGCTATAG TGACTTAACGGAGGGCACCGTATGGTGCTATAGTGACTTAACGGAGGGGA CCGTGTGGTGCTATAGTGACTTAACGGAGGGCATTGTGTGTGCTATAGTG ACTTAACGGAGGGCACCGTACGGTGCTATAGTGACTTAACGGAGGGCACT GTGTGTGCTAAAGTGACTTAACGGAGGGGACCGTGTGGTGTTATAGTGAC TTAACGGAGGGCACCGGATGGTGCTATAGTGACTTAACGGAAGGGACCGT GTGGTGTTATAGTGACTTAACGGAGGGCACTGGATGGTGCTATAGTGACT TAACGGAGGGGACCGTGTGGTGTTATAGTGACTTAACGGAGGGCACCGTG TGGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00544.hp2 others(49): Show HG00140.hp1 HG00280.hp1 HG00544.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01106.hp1 HG01123.hp1 HG01243.hp1 HG01255.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01884.hp2 HG01978.hp2 HG02015.hp1 HG02109.hp1 HG02109.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02630.hp1 HG02683.hp2 HG02809.hp2 HG02965.hp1 HG02970.hp1 HG03130.hp1 HG03195.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG03704.hp1 HG03710.hp1 HG03942.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18956.hp2 NA18973.hp2 NA19030.hp1 NA19056.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0002 a0005 a0002 a0005	a0002c0003 a0002c0004 a0002c0009 others(1): Show a0002c0003 a0002c0004 a0002c0009 a0005c0011	a0002c0003t0001 a0002c0004t0001 a0002c0009t0001 others(1): Show a0002c0003t0001 a0002c0004t0001 a0002c0009t0001 a0005c0011t0001	a0002c0003t0001g0030 a0002c0003t0001g0111 a0002c0003t0001g0112 others(30): Show a0002c0003t0001g0030 a0002c0003t0001g0111 a0002c0003t0001g0112 a0002c0003t0001g0113 a0002c0004t0001g0010 a0002c0004t0001g0014 a0002c0004t0001g0019 a0002c0004t0001g0035 a0002c0004t0001g0036 a0002c0004t0001g0037 a0002c0004t0001g0048 a0002c0004t0001g0062 a0002c0004t0001g0066 a0002c0004t0001g0143 a0002c0004t0001g0144 a0002c0004t0001g0145 a0002c0004t0001g0146 a0002c0004t0001g0147 a0002c0004t0001g0148 a0002c0004t0001g0149 a0002c0004t0001g0150 a0002c0004t0001g0151 a0002c0004t0001g0152 a0002c0004t0001g0153 a0002c0004t0001g0154 a0002c0004t0001g0155 a0002c0004t0001g0156 a0002c0004t0001g0173 a0002c0004t0001g0174 a0002c0004t0001g0175 a0002c0004t0001g0177 a0002c0009t0001g0021 a0005c0011t0001g0043	52	399	0.1303	555	c.125 others(570): Show c.125-992_125-991insACACCACACGGTGCCCTCCGTTAAGTCACT ATAACACCACACGGTCCCCTCCGTTAAGTCACTATAGCACCATCCAGTGC CCTCCGTTAAGTCACTATAACACCACACGGTCCCTTCCGTTAAGTCACTA TAGCACCATCCGGTGCCCTCCGTTAAGTCACTATAACACCACACGGTCCC CTCCGTTAAGTCACTTTAGCACACACAGTGCCCTCCGTTAAGTCACTATA GCACCGTACGGTGCCCTCCGTTAAGTCACTATAGCACACACAATGCCCTC CGTTAAGTCACTATAGCACCACACGGTCCCCTCCGTTAAGTCACTATAGC ACCATACGGTGCCCTCCGTTAAGTCACTATAGCACCATACGGTGCCCTCC GTTAAGTCACTATAACACACACGGTGCCCTCCGTTAAGTCACTATAACAC ACACAGTGCCCTCCGTTAAGTCACTATAGCACCATACGGTGCCCTCCGTT AAGTCACTATAACACACACGGTGCCCTCCGTTAAGTCACTATAGCATACA CAGTGCCCTCCGTTAAGTCACTATA		PANK4	ENSG00000157881.16	transcript	ENST00000378466.9	protein_coding	1/18						chr1	TogoVar
PANK4_chr1_2503537_2531596	2522791	C C	CTATAGTG others(548): Show CTATAGTGACTTAACGGAGGGCACTGTGTGTGCTATAGTGACTTAACGGA GGGCACCGTGTGTGTTATAGTGACTTAACGGAGGGCACCGTATGGTGCTA TAGTGACTTAACGGAGGGCACCGTGTGTGTTATAGTGACTTAACGGAGGG CACCGTGTGTGTTATAGTGACTTAACGGAGGGCACCGTATGGTGCTATAG TGACTTAACGGAGGGCACCGTATGGTGCTATAGTGACTTAACGGAGGGGA CCGTGTGGTGCTATAGTGACTTAACGGAGGGCATTGTGTGTGCTATAGTG ACTTAACGGAGGGCACCGTACGGTGCTATAGTGACTTAACGGAGGGCACT GTGTGTGCTAAAGTGACTTAACGGAGGGGACCGTGTGGTGTTATAGTGAC TTAACGGAGGGCACCGGATGGTGCTATAGTGACTTAACGGAAGGGACCGT GTGGTGTTATAGTGACTTAACGGAGGGCACTGGATGGTGCTATAGTGACT TAACGGAGGGGACCGTGTGGTGTTATAGTGACTTAACGGAGGGCACCGTG TGGTGT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0109 a0001c0001t0003g0109	1	399	0.0025	555	c.125 others(570): Show c.125-992_125-991insACACCACACGGTGCCCTCCGTTAAGTCACT ATAACACCACACGGTCCCCTCCGTTAAGTCACTATAGCACCATCCAGTGC CCTCCGTTAAGTCACTATAACACCACACGGTCCCTTCCGTTAAGTCACTA TAGCACCATCCGGTGCCCTCCGTTAAGTCACTATAACACCACACGGTCCC CTCCGTTAAGTCACTTTAGCACACACAGTGCCCTCCGTTAAGTCACTATA GCACCGTACGGTGCCCTCCGTTAAGTCACTATAGCACACACAATGCCCTC CGTTAAGTCACTATAGCACCACACGGTCCCCTCCGTTAAGTCACTATAGC ACCATACGGTGCCCTCCGTTAAGTCACTATAGCACCATACGGTGCCCTCC GTTAAGTCACTATAACACACACGGTGCCCTCCGTTAAGTCACTATAACAC ACACGGTGCCCTCCGTTAAGTCACTATAGCACCATACGGTGCCCTCCGTT AAGTCACTATAACACACACGGTGCCCTCCGTTAAGTCACTATAGCACACA CAGTGCCCTCCGTTAAGTCACTATA		PANK4	ENSG00000157881.16	transcript	ENST00000378466.9	protein_coding	1/18						chr1	TogoVar
PANK4_chr1_2503537_2531596	2522791	C C	CTATAGTG others(548): Show CTATAGTGACTTAACGGAGGGCACTGTGTGTGCTATAGTGACTTAACGGA GGGCACCGTGTGTGTTATAGTGACTTAACGGAGGGCACCGTATGGTGCTA TAGTGACTTAACGGAGGGCACTGTGTGTGTTATAGTGACTTAACGGAGAG CACCGTGTGTGTTATAGTGACTTAACGGAGGGCACCGTATGGTGCTATAG TGACTTAACGGAGGGCACCGTATGGTGCTATAGTGACTTAACGGAGGGGA CCGTGTGGTGCTATAGTGACTTAACGGAGGGCATTGTGTGTGCTATAGTG ACTTAACGGAGGGCACCGTACGGTGCTATAGTGACTTAACGGAGGGCACT GTGTGTGCTAAAGTGACTTAACGGAGGGGACCGTGTGGTGTTATAGTGAC TTAACGGAGGGCACCGGATGGTGCTATAGTGACTTAACGGAAGGGACCGT GTGGTGTTATAGTGACTTAACGGAGGGCACTGGATGGTGCTATAGTGACT TAACGGAGGGGACCGTGTGGTGTTATAGTGACTTAACGGAGGGCACCGTG TGGTGT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	399	0.0025	555	c.125 others(570): Show c.125-992_125-991insACACCACACGGTGCCCTCCGTTAAGTCACT ATAACACCACACGGTCCCCTCCGTTAAGTCACTATAGCACCATCCAGTGC CCTCCGTTAAGTCACTATAACACCACACGGTCCCTTCCGTTAAGTCACTA TAGCACCATCCGGTGCCCTCCGTTAAGTCACTATAACACCACACGGTCCC CTCCGTTAAGTCACTTTAGCACACACAGTGCCCTCCGTTAAGTCACTATA GCACCGTACGGTGCCCTCCGTTAAGTCACTATAGCACACACAATGCCCTC CGTTAAGTCACTATAGCACCACACGGTCCCCTCCGTTAAGTCACTATAGC ACCATACGGTGCCCTCCGTTAAGTCACTATAGCACCATACGGTGCCCTCC GTTAAGTCACTATAACACACACGGTGCTCTCCGTTAAGTCACTATAACAC ACACAGTGCCCTCCGTTAAGTCACTATAGCACCATACGGTGCCCTCCGTT AAGTCACTATAACACACACGGTGCCCTCCGTTAAGTCACTATAGCACACA CAGTGCCCTCCGTTAAGTCACTATA		PANK4	ENSG00000157881.16	transcript	ENST00000378466.9	protein_coding	1/18						chr1	TogoVar
PANK4_chr1_2503537_2531596	2522791	C C	CTATAGTG others(548): Show CTATAGTGACTTAACGGAGGGCACTGTGTGTGCTATAGTGACTTAACGGA GGGCACCGTGTGTGTTATAGTGACTTAACGGAGGGCACCGTATGGTGCTA TAGTGACTTAACGGAGGGCACTGTGTGTGTTATAGTGACTTAACGGAGGG CACCGTGTGTGTTATAGTGACTTAACGGAGGGCACCGTATGGTGCCATAG TGACTTAACGGAGGGCACCGTATGGTGCTATAGTGACTTAACGGAGGGGA CCGTGTGGTGCTATAGTGACTTAACGGAGGGCGTTGTGTGTGCTATAGTG ACTTAACGGAGGGCACCGTACGGTGCTATAGTGACTTAACGGAGGGCACT GTGTGTGCTAAAGTGACTTAACGGAGGGGACCGTGTGGTGTTATAGTGAC TTAACGGAGGGCACCGGATGGTGCTATAGTGACTTAACGGAGGGGACCGT GTGGTGTTATAGTGACTTAACGGAGGGCACTGGATGGTGCTATAGTGACT TAACGGAGGGGACCGTGTGGTGTTATAGTGACTTAACGGAGGGCACCGTG TGGTGT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03139.hp1 NA20300.hp2 HG02723.hp2 HG03139.hp1 NA20300.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0020 a0001c0008t0001g0020	3	399	0.0075	555	c.125 others(570): Show c.125-992_125-991insACACCACACGGTGCCCTCCGTTAAGTCACT ATAACACCACACGGTCCCCTCCGTTAAGTCACTATAGCACCATCCAGTGC CCTCCGTTAAGTCACTATAACACCACACGGTCCCCTCCGTTAAGTCACTA TAGCACCATCCGGTGCCCTCCGTTAAGTCACTATAACACCACACGGTCCC CTCCGTTAAGTCACTTTAGCACACACAGTGCCCTCCGTTAAGTCACTATA GCACCGTACGGTGCCCTCCGTTAAGTCACTATAGCACACACAACGCCCTC CGTTAAGTCACTATAGCACCACACGGTCCCCTCCGTTAAGTCACTATAGC ACCATACGGTGCCCTCCGTTAAGTCACTATGGCACCATACGGTGCCCTCC GTTAAGTCACTATAACACACACGGTGCCCTCCGTTAAGTCACTATAACAC ACACAGTGCCCTCCGTTAAGTCACTATAGCACCATACGGTGCCCTCCGTT AAGTCACTATAACACACACGGTGCCCTCCGTTAAGTCACTATAGCACACA CAGTGCCCTCCGTTAAGTCACTATA		PANK4	ENSG00000157881.16	transcript	ENST00000378466.9	protein_coding	1/18						chr1	TogoVar
PANK4_chr1_2503537_2531596	2522791	C C	CTATAGTG others(548): Show CTATAGTGACTTAACGGAGGGCACTGTGTGTGCTATAGTGACTTAACGGA GGGCACCGTGTGTGTTATAGTGACTTAACGGAGGGCACCGTATGGTGCTA TAGTGACTTAACGGAGGGCACTGTGTGTGTTATAGTGACTTAACGGAGGG CACCGTGTGTGTTATAGTGACTTAACGGAGGGCACCGTATGGTGCTATAG TGACTTAACGGAGGGCACCGTATGGTGCTATAGTGACTTAACGGAGGGGA CCGTGTGGTGCTATAGTGACTTAACGGAGGGCATTGTGTGTGCTATAGTG ACTTAACGGAGGGCACCGTACGGTGCTATAGTGACTTAACGGAGGGCACT GTGTGTGCTAAAGTGACTTAACGGAGGGGACCGTGTGGTGTTATAGTGAC TTAACGGAGGGCACCGGATGGTGCTATAGTGACTTAACGGAAGGGACCGT GTGGTGTTATAGTGACTTAACGGAGGGCACTGGATGGTGCTATAGTGACT TAACGGAGGGGACCGTGTGGTGTTATAGTGACTTAACGGAGGGCACCGTG TGGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00423.hp2 others(150): Show HG00099.hp1 HG00323.hp2 HG00423.hp2 HG00558.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04184.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18990.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19058.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19074.hp2 NA19078.hp2 NA19080.hp2 NA19081.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0005 a0001c0017 others(4): Show a0001c0001 a0001c0005 a0001c0017 a0001c0018 a0001c0021 a0002c0003 a0008c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0005t0002 a0001c0017t0002 a0001c0018t0003 a0001c0021t0002 a0002c0003t0001 a0008c0019t0003	a0001c0001t0001g0023 a0001c0001t0001g0060 a0001c0001t0001g0061 others(66): Show a0001c0001t0001g0023 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0091 a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0003g0004 a0001c0001t0003g0012 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0046 a0001c0001t0003g0068 a0001c0001t0003g0070 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0087 a0001c0001t0003g0092 a0001c0001t0003g0102 a0001c0001t0003g0107 a0001c0001t0004g0105 a0001c0005t0002g0008 a0001c0005t0002g0056 a0001c0005t0002g0104 a0001c0005t0002g0176 a0001c0017t0002g0084 a0001c0018t0003g0157 a0001c0021t0002g0097 a0002c0003t0001g0064 a0002c0003t0001g0069 a0002c0003t0001g0079 a0008c0019t0003g0071	153	399	0.3835	555	c.125 others(570): Show c.125-992_125-991insACACCACACGGTGCCCTCCGTTAAGTCACT ATAACACCACACGGTCCCCTCCGTTAAGTCACTATAGCACCATCCAGTGC CCTCCGTTAAGTCACTATAACACCACACGGTCCCTTCCGTTAAGTCACTA TAGCACCATCCGGTGCCCTCCGTTAAGTCACTATAACACCACACGGTCCC CTCCGTTAAGTCACTTTAGCACACACAGTGCCCTCCGTTAAGTCACTATA GCACCGTACGGTGCCCTCCGTTAAGTCACTATAGCACACACAATGCCCTC CGTTAAGTCACTATAGCACCACACGGTCCCCTCCGTTAAGTCACTATAGC ACCATACGGTGCCCTCCGTTAAGTCACTATAGCACCATACGGTGCCCTCC GTTAAGTCACTATAACACACACGGTGCCCTCCGTTAAGTCACTATAACAC ACACAGTGCCCTCCGTTAAGTCACTATAGCACCATACGGTGCCCTCCGTT AAGTCACTATAACACACACGGTGCCCTCCGTTAAGTCACTATAGCACACA CAGTGCCCTCCGTTAAGTCACTATA		PANK4	ENSG00000157881.16	transcript	ENST00000378466.9	protein_coding	1/18						chr1	TogoVar
PDE1C_chr7_31746179_32075407	31886826	T T	TTTCAGAA others(548): Show TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCGGATCTTTTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTTTTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTGTTCAGAATAGATCT ATTCGGATCTGTTCAGAATAGATCTATTCGGATCTGTTCAGAATAGATCT ATTCAGAATAGATCTATTCGGATCTGTTCAGAATAGATCTATTCAGAATA GATCTATTCGGATCTGTTCAGAATAGATCTATTCAGAATAGATCTATTCG GATCTGTTCAGAATAGATCTATTCGGATCTGTTCAGAATAGATCTATTCG GATCTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA18522.hp2 NA18906.hp2 HG02630.hp2 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0007 a0001c0001t0001 a0001c0005t0007	a0001c0001t0001g0115 a0001c0005t0007g0001 a0001c0005t0007g0004 a0001c0001t0001g0115 a0001c0005t0007g0001 a0001c0005t0007g0004	3	262	0.0115	555	c.129 others(572): Show c.129-5967_129-5966insCAGATCCGAATAGATCTATTCTGAACAG ATCCGAATAGATCTATTCTGAACAGATCCGAATAGATCTATTCTGAATAG ATCTATTCTGAACAGATCCGAATAGATCTATTCTGAATAGATCTATTCTG AACAGATCCGAATAGATCTATTCTGAATAGATCTATTCTGAACAGATCCG AATAGATCTATTCTGAACAGATCCGAATAGATCTATTCTGAACAGATCCG AATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAGATCCG AATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAGATCCG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAA		PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17						chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886826	T T	TTTCAGAA others(548): Show TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCGGATCTTTTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTTTTCAGAATAGATCT ATTCGGATCTGTTCAGAATAGATCTATTCGGATCTGTTCAGAATAGATCT ATTCGGATCTGTTCAGAATAGATCTATTCGGATCTGTTCAGAATAGATCT ATTCAGAATAGATCTATTCGGATCTGTTCAGAATAGATCTATTCAGAATA GATCTATTCGGATCTGTTCAGAATAGATCTATTCAGAATAGATCTATTCG GATCTGTTCAGAATAGATCTATTCGGATCTGTTCAGAATAGATCTATTCG GATCTG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0085 a0001c0005t0003g0085	1	262	0.0038	555	c.129 others(572): Show c.129-5967_129-5966insCAGATCCGAATAGATCTATTCTGAACAG ATCCGAATAGATCTATTCTGAACAGATCCGAATAGATCTATTCTGAATAG ATCTATTCTGAACAGATCCGAATAGATCTATTCTGAATAGATCTATTCTG AACAGATCCGAATAGATCTATTCTGAATAGATCTATTCTGAACAGATCCG AATAGATCTATTCTGAACAGATCCGAATAGATCTATTCTGAACAGATCCG AATAGATCTATTCTGAACAGATCCGAATAGATCTATTCTGAAAAGATCCG AATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAGATCCG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAA		PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17						chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(548): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGAATA GATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCT ATTCGGAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCA GAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	262	0.0038	555	c.129 others(572): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTG AATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCTA TTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCTATTCCGAATAG ATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCTA TTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAA		PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17						chr7	TogoVar
PNPLA7_chr9_137454952_137555402	137503786	G G	GAAAAAAG others(548): Show GAAAAAAGAAGAGAGAAGAAGAAAGAAATAGAAAGAAGAAGGAAGAAGGA AGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCAGAAAGAAGAA GAAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAA GAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAAAGAAGAAGAA GGAAGAAGAAGAAAGAAGAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAA GAAGGAAGAAGGAAGGAGAAGGAAGAAGGAAGAAAGAAGAAGAAGGAAGA AGGAAGAAGGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAAAAGAAGG AAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAAGAAG AAAGAAAGAAGAAAGAAGAAGAAAGAAGAAAGGAAGAAGAAAAAAGGAAG AGGAAGAAAAGAAGAAGGAAGAAGAAAGAAGGAAGAAGAAGAAGGAAGAA GGAAGAAGAAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAAGAAGGAAGAA GGAAGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	188	0.0053	555	c.147 others(574): Show c.1473+1827_1473+1828insTCTTCCTTCTTCCTTCTTCTTCTTCC TTCTTCCTTCTTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCTTCC TTCTTTCTTCTTCCTTCTTCTTTTCTTCCTCTTCCTTTTTTCTTCTTCCT TTCTTCTTTCTTCTTCTTTCTTCTTTCTTTCTTCTTCTTCCTTCTTCTTT CTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCTTTTTCTTCCTTCTT GTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCTTCCTTCTTCTTCTTTCT TCCTTCTTCCTTCTCCTTCCTTCTTCCTTCTTCTTCCTTCTTCTTTCTTC TTCCTTCTTCCTCTTCTTTCTTCTTCTTCCTTCTTCTTCTTTCTTCCTTC TTTTTCTTCCTTCTTTTTCCTTCTTCCTTCTTCTTCTTCCTTCTTCCTTC TTCTTCCTTCTTCCTCCTTCTTCCTTCTTCTTCTTCTTTCTGCTTCTTCT TCCTTCTTCTTCCTTCTTCTTCTTTCTTCTTCCTTCTTCCTTCTTCTTTC TATTTCTTTCTTCTTCTCTCTTCTTTTTT		PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34						chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137503786	G G	GAAAAAAG others(548): Show GAAAAAAGAAGAGAGAAGAAGAAAGAAATAGAAAGAAGAAGGGAGAAGGA AGAAGGAAGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCAGAA AGAAGAAGAAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAAGGA AGAAGAAGAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAAAGA AGAAGAATGAAGAAGAAGAAAGAAGAGGAAGAAGGAAGAAGAAAGAAGAA GGAAGAAGAAGGAAGAAGGAAGGAGAAGGAAGAAGGAAGAAAGAAGAAGA AGGAAGAAGGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAAAAGAAGG AAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAAGAAG AAAGAAAGAAGAAAGAAGAAGAAAGAAGAAAGGAAGAAGAAAAAAGGAAG AGGAAGAAAAGAAGAAGGAAGAAGAAAGAAGGAAGAAGAAGAAGGAAGAA GGAAGAAGAAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAAGAAGGAAGAA GAAGGA	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18944.hp1 HG02155.hp1 NA18944.hp1	a0003 a0003	a0003c0008 a0003c0022 a0003c0008 a0003c0022	a0003c0008t0001 a0003c0022t0001 a0003c0008t0001 a0003c0022t0001	a0003c0008t0001g0087 a0003c0022t0001g0088 a0003c0008t0001g0087 a0003c0022t0001g0088	2	188	0.0106	555	c.147 others(574): Show c.1473+1827_1473+1828insTCCTTCTTCTTCCTTCTTCTTCTTCC TTCTTCCTTCTTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCTTCC TTCTTTCTTCTTCCTTCTTCTTTTCTTCCTCTTCCTTTTTTCTTCTTCCT TTCTTCTTTCTTCTTCTTTCTTCTTTCTTTCTTCTTCTTCCTTCTTCTTT CTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCTTTTTCTTCCTTCTT GTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCTTCTTCTTTCTTCCTTCT TCCTTCTCCTTCCTTCTTCCTTCTTCTTCCTTCTTCTTTCTTCTTCCTTC TTCCTCTTCTTTCTTCTTCTTCATTCTTCTTCTTTCTTCCTTCTTTTTCT TCCTTCTTTTTCCTTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCC TTCTTCCTCCTTCTTCCTTCTTCTTCTTCTTTCTGCTTCTTCTTCCTTCT TCTTCCTTCTTCTTCTTTCTTCTTCCTTCTTCCTTCTCCCTTCTTCTTTC TATTTCTTTCTTCTTCTCTCTTCTTTTTT		PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34						chr9	TogoVar
PRB2_chr12_11386540_11400567	11393020	C C	CCTCCTTG others(548): Show CCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTG AGGTTTGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAG GTGGGGGACCTTGGGGCTGGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGC TTTCCTGGAGGAGATCGGGCACTTTGGGACTTGTTGTCTCCTTGTGGGGG TGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTTTGTTGCCTC CTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGG GGCTGGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGA TCGAGAACTTCGGGACTTGTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCT TTCCTGGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGT CCTTGTGGCTTTCCTGGAGGAGGTGGAGGACCTTGAGGCTGGTTGCCTCC TTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTCGGG ACTTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01123.hp1 HG02738.hp2 HG01123.hp1 HG02738.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0030 a0010c0014t0001g0030	2	410	0.0049	555	c.105 others(564): Show c.1057_1058insACAAGTCCCGAAGTCCCCGATCTCCTCCAGGAAAGC CACAAGGACCACCCCCACAAGGAGGCAACCAGCCTCAAGGTCCTCCACCT CCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGCAACAAACCTCA AGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACA ACAAGTCCCGAAGTTCTCGATCTCCTCCAGGAAAGCCACAAGGACCACCC CCACAAGGAGGCAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCC ACAAGGACCACCCCCACAAGGAGGCAACAAACCTCAAGGTCCCCCACCTC CAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAACAAGTCCCAAAGT GCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGCAA CCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCC CACAAGGAGGCAACAAACCTCAAGGTCCCCCACCTCCAGGAAAGCCACAA GGACCACCCCCACAAGGAG	p.Gly others(568): Show p.Gly352_Gly353insAspLysSerArgSerProArgSerProProGl yLysProGlnGlyProProProGlnGlyGlyAsnGlnProGlnGlyProP roProProProGlyLysProGlnGlyProProProGlnGlyGlyAsnLys ProGlnGlyProProProProGlyLysProGlnGlyProProProGlnGl yAspAsnLysSerArgSerSerArgSerProProGlyLysProGlnGlyP roProProGlnGlyGlyAsnGlnProGlnGlyProProProProProGly LysProGlnGlyProProProGlnGlyGlyAsnLysProGlnGlyProPr oProProGlyLysProGlnGlyProProProGlnGlyAspAsnLysSerG lnSerAlaArgSerProProGlyLysProGlnGlyProProProGlnGly GlyAsnGlnProGlnGlyProProProProProGlyLysProGlnGlyPr oProProGlnGlyGlyAsnLysProGlnGlyProProProProGlyLysP roGlnGlyProProProGlnGly	PRB2	ENSG00000121335.12	transcript	ENST00000389362.6	protein_coding	3/4	1095/1431	1057/1251	353/416			chr12	TogoVar
PRB2_chr12_11386540_11400567	11393319	G G	GGGCTGGT others(548): Show GGGCTGGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAG ATCGGGCACTTCGGGACTTGTTGTCTCCTTGTGGGGGTGGTCCTTGTGGC TTTCCTGGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGG TCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTGCCTC CTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGAGAACTTCGG GACTTGTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGG GGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTC CTGGAGGAGGTGGAGGACCTTGAGGCTGGTTGCCTCCTTGTGGGGGTGGT CCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTCGGGACTTGTCTCCTTG TGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTTTGT TGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGA CCTTGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00673.hp2 HG01346.hp1 others(31): Show HG00099.hp1 HG00673.hp2 HG01346.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02257.hp1 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG03209.hp2 HG03540.hp1 HG03579.hp1 HG03710.hp1 HG04204.hp2 HG06807.hp1 NA18906.hp2 NA18959.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA19005.hp2 NA19054.hp1 NA19086.hp1 NA20905.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0002 a0003c0004t0001 a0003c0004t0002	a0003c0004t0001g0011 a0003c0004t0001g0012 a0003c0004t0001g0039 others(4): Show a0003c0004t0001g0011 a0003c0004t0001g0012 a0003c0004t0001g0039 a0003c0004t0002g0007 a0003c0004t0002g0010 a0003c0004t0002g0017 a0003c0004t0002g0038	34	410	0.0829	555	c.758 others(562): Show c.758_759insTCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGAC CACCCCCACAAGGAGGCAACAAACCTCAAGGTCCCCCACCTCCAGGAAAG CCACAAGGACCACCCCCACAAGGAGACAAGTCCCGAAGTCCCCGATCTCC TCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGCAACCAGCCTCAAG GTCCTCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGC AACAAACCTCAAGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCC ACAAGGAGACAACAAGTCCCGAAGTTCTCGATCTCCTCCAGGAAAGCCAC AAGGACCACCCCCACAAGGAGGCAACCAGCCCCAAGGTCCCCCACCTCCT CCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGCAACAAACCTCAAGG TCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAACA AGTCCCGAAGTGCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCA CAAGGAGGCAACCAGCC	p.Pro others(568): Show p.Pro253_Gln254insGlnGlyProProProProProGlyLysProGl nGlyProProProGlnGlyGlyAsnLysProGlnGlyProProProProG lyLysProGlnGlyProProProGlnGlyAspLysSerArgSerProArg SerProProGlyLysProGlnGlyProProProGlnGlyGlyAsnGlnPr oGlnGlyProProProProProGlyLysProGlnGlyProProProGlnG lyGlyAsnLysProGlnGlyProProProProGlyLysProGlnGlyPro ProProGlnGlyAspAsnLysSerArgSerSerArgSerProProGlyLy sProGlnGlyProProProGlnGlyGlyAsnGlnProGlnGlyProProP roProProGlyLysProGlnGlyProProProGlnGlyGlyAsnLysPro GlnGlyProProProProGlyLysProGlnGlyProProProGlnGlyAs pAsnLysSerArgSerAlaArgSerProProGlyLysProGlnGlyProP roProGlnGlyGlyAsnGlnPro	PRB2	ENSG00000121335.12	transcript	ENST00000389362.6	protein_coding	3/4	796/1431	758/1251	253/416			chr12	TogoVar
PRB2_chr12_11386540_11400567	11393371	C C	CGGGCACT others(548): Show CGGGCACTTCGGGACTTGTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTT TCCTGGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGTC CTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTGCCTCCT TGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGAGAACTTCGGGA CTTGTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGG GACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCT GGAGGAGGTGGAGGACCTTGAGGCTGGTTGCCTCCTTGTGGGGGTGGTCC TTGTGGCTTTCCTGGAGGAGATCGGGGACTTCGGGACTTGTCTCCTTGTG GGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTTTGTTG CCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACC TTGAGGCTGGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAG GAGATT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03225.hp1 HG03225.hp1	a0025 a0025	a0025c0017 a0025c0017	a0025c0017t0002 a0025c0017t0002	a0025c0017t0002g0036 a0025c0017t0002g0036	1	410	0.0024	555	c.706 others(562): Show c.706_707insAATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAA GGAGGCAACCAGCCTCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGG ACCACCCCCACAAGGAGGCAACAAACCTCAAGGTCCCCCACCTCCAGGAA AGCCACAAGGACCACCCCCACAAGGAGACAAGTCCCGAAGTCCCCGATCT CCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGCAACCAGCCTCA AGGTCCTCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAG GCAACAAACCTCAAGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCC CCACAAGGAGACAACAAGTCCCGAAGTTCTCGATCTCCTCCAGGAAAGCC ACAAGGACCACCCCCACAAGGAGGCAACCAGCCCCAAGGTCCCCCACCTC CTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGCAACAAACCTCAA GGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAA CAAGTCCCGAAGTGCCC	p.Ala others(568): Show p.Ala235_Arg236insGlnSerProProGlyLysProGlnGlyProPr oProGlnGlyGlyAsnGlnProGlnGlyProProProProProGlyLysP roGlnGlyProProProGlnGlyGlyAsnLysProGlnGlyProProPro ProGlyLysProGlnGlyProProProGlnGlyAspLysSerArgSerPr oArgSerProProGlyLysProGlnGlyProProProGlnGlyGlyAsnG lnProGlnGlyProProProProProGlyLysProGlnGlyProProPro GlnGlyGlyAsnLysProGlnGlyProProProProGlyLysProGlnGl yProProProGlnGlyAspAsnLysSerArgSerSerArgSerProProG lyLysProGlnGlyProProProGlnGlyGlyAsnGlnProGlnGlyPro ProProProProGlyLysProGlnGlyProProProGlnGlyGlyAsnLy sProGlnGlyProProProProGlyLysProGlnGlyProProProGlnG lyAspAsnLysSerArgSerAla	PRB2	ENSG00000121335.12	transcript	ENST00000389362.6	protein_coding	3/4	744/1431	706/1251	236/416			chr12	TogoVar
PRKCZ_chr1_2045411_2190395	2123455	G G	GTCACGGC others(548): Show GTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGG TAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGT CGTGGTGGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGG TCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTAGGGTCATGGTGGT AGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGG TGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGT CACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTA GGGTCA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0058 a0001c0001t0012g0058	1	286	0.0035	555	c.335 others(574): Show c.335-11806_335-11805insCACGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACG GCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCAT CATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTA GGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTAGTT AGGATCACGGCTGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGT AGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGG CTATAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGT CACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTA GGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTA GTTAGGATCATGGCTGTAGTTAGGGTCAT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124353	C C	CTATAGTT others(548): Show CTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTA GGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCA CGGCGATAGTTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGG ATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGT TAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTG TAGTTAGGGTCATGGTGGTAGTTGGGGTCACGGCTATAGTTGGGGTCATG GTGGTAGTTAGGGTCACGGCTGTAGTTAGCGTCATGGTGGTAGTTAGGGT CATGGT	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA19005.hp1 HG01978.hp1 NA19005.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0062 a0001c0003t0003g0184 a0001c0003t0001g0062 a0001c0003t0003g0184	2	286	0.0070	555	c.335 others(574): Show c.335-10909_335-10908insTATAGTTGGGGTCATGGTGGTAGTTA GGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGT AGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATC ATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGG GGTCATGGTGGTAGTTAGGGTCACGGCGATAGTTAGCATCATGGTGGTAG TTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTG GTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCAT GGTGGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGTAGTTGGGG TCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTT AGCGTCATGGTGGTAGTTAGGGTCATGGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17						chr1	TogoVar
PWWP2B_chr10_132392200_132422859	132392560	A A	AATGGTGA others(548): Show AATGGTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGA TGGTGATGGTGGTGGTAATGGTGATGATGGTGATGGTGATGATGATGGTG GTGGTGGTGATAACGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGT GATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGG TGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATG GTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGAT GATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTAATGGTGA TGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTG ATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGAT GGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTAATGGTGATGG TGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATG ATGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01981.hp2 HG01978.hp2 HG01981.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0054 a0003c0004t0001g0236 a0003c0004t0001g0054 a0003c0004t0001g0236	2	374	0.0054	555	c.-46 others(566): Show c.-4667_-4666insATGGTGATGATGGTGATGGTGATGATGGTGGTGG TGGTGATAATGGTGATGGTGATGGTGGTGGTAATGGTGATGATGGTGATG GTGATGATGATGGTGGTGGTGGTGATAACGGTGATGGTGATGGTGGTGGT GGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGA TGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATG GTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGAT GATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGATGG TGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTG ATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGAT GGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGG TGGTAATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGG GTGGTGGTAATGATGATGGTG		PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding					4639		chr10	TogoVar
RAB11FIP3_chr16_420649_528011	492388	A A	AGCCCTCC others(548): Show AGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCC GAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGC CCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	295	0.0034	555	c.126 others(574): Show c.1265+3424_1265+3425insTCCCGGGAGACCCGAGGCCGCCCAGA GCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCT		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492394	C C	CCCGGGAG others(548): Show CCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCG CCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGA GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCG AGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCC CAGAGCCCTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGTCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGG GAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCAGG GCCCTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	295	0.0034	555	c.126 others(574): Show c.1265+3396_1265+3397insGGGAGACCCGAGGCCGTCCAGGGCCC TTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGC CGTCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCC GAGGCCGTCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTT CCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGT CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGTCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCG GGAGACCCGAGGCCGTCCAGGGCCCTTCC		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RNF213_chr17_80255852_80403794	80274587	T T	TGGGGGGT others(548): Show TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGG GTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGG GGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGTGGGGGGTGAGTGGGGTGAGTGGGGTGAGTGGGGTGAATGTGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGAG TGTGGGGGGTGAGCGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGG GAGTGAGTGGGGTGAGTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGG GGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTGAG TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGTGTGGGGTGA GTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGG TGAGTG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0087 a0087	a0087c0098 a0087c0098	a0087c0098t0001 a0087c0098t0001	a0087c0098t0001g0285 a0087c0098t0001g0285	1	292	0.0034	555	c.261 others(572): Show c.261+1222_261+1223insAGTGTGGGGGGTGAGTGGGGTGAGTGTG GGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGG TGAGTGGGGTGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAGTGTGGGGG GTGAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGG TGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTG TGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGGTGTCTG TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGT GAGTGGGGTGTCTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTG AGTGTGGGGGGTGAGTGGGGTGTGTGGGGTGAGTGGGGTGTCTGTGGGGG GTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGGTGAGTG GGGTGAGTGTGGGGGGTGAGTGGGGTG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPA3_chr7_7631518_7723607	7679372	T T	TACATGTT others(548): Show TACATGTTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATA TATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTA TAGATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	308	0.0033	555	c.-75 others(574): Show c.-758+6457_-758+6458insTATCTATAAATTAAATATATAAATAT ATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAA ATATATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTA TCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATATA AATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAA ATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATAT ATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAAT ATATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATC TATAAATTAAATATATAAATATATATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAC TAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATATAT TTATCTATAAACTAAATATATAAACATGT		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(548): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCT CCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCACCCCTTCCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCC CCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCACCC CCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTC CCCCTCCCCCTCCCCTCCACCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTT TCCCTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0134 a0001c0001t0028g0134	1	150	0.0067	555	c.77- others(572): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCACCCCTTCCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCC CCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCC CCACCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCTCCACCCTCCCCCTCCCCTCCCCCCTCCC CTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTTTCCCTTCCCCTCCCCTCCCCC		SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
SHROOM3_chr4_76430229_76788253	76608743	T T	TAGCATAG others(548): Show TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCAC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0180 a0002c0002t0001g0180	1	218	0.0046	555	c.323 others(574): Show c.323+52984_323+52985insTAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCACAGCA		SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC45A4_chr8_141202174_141313288	141203481	A A	AGGGAGAG others(548): Show AGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGAGAGAGGGAGAGGGAG AGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGAGAGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGAGGGAGAGAGGG AGAGAGGGAGAGAGGGAGAGAGAGAGAGAGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGG AGAGAGGGAGAGGGAGAGGGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGG AGAGAGAGAGAGAGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAG AGGGAGAGGGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGAGAG AGGGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGAG AGAGAGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGAGGAGAGGGA GAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0079 a0001c0004t0006g0079	1	188	0.0053	555	c.80 others(566): Show c.8090_*8091insCCTCTCTCCCTCTCCTCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCTCTCTCTCTCTCTCCCTCTCTCCCTCTCTCCCT CTCTCCCTCTCTCCCTCTCCCTCTCTCTCTCTCCCTCTCTCCCTCTCTCC CTCTCTCCCTCTCCCTCTCCCTCTCCCTCTCTCCCTCTCTCCCTCTCTCC CTCTCTCCCTCTCTCCCTCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCTCTCTCTCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCT CTCCCTCTCCCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCT CTCTCCCTCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCTCTCTCT CTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCTCTCTCTCTCCCTCTCTCCCTCTCT CCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCCCTCTCTCTCTCTCCCTCT CTCCCTCTCTCCCTCTCTCCC		SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding					3692		chr8	TogoVar
SLC66A2_chr18_79897420_79956653	79952594	G G	GTGTGAGG others(548): Show GTGTGAGGGGCGCGCTGGTGAGGGGTGAGGGGCGCGCTGGTGAGGGGTGA GGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCTGGTGAGGGGTGAGGGGTG AGGGGCGCGCGGGTGAAGAGTGAGGGGCGCGCTGGTGAGGGGTGAGGGGC GCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGTGAGGGG CGCGCGGGTGAAGAGTGAGGGGCGCGCTGGTGAGGGGTGAGGGGCGCGCG GGTGAAGAGTGAGGGGAGCGTGGGTGAGGGGTGAGGCGTGAGTGATGCGC GAGTGAAGGGTGAGGGGCGCCTGGGTGAGGGGTGAGGGGTGAGGGGCGCG CCGGTGAAGGGTGAGGGGAGCGTGGGTGAGGGGTGAGGGGTGAGTGATGC GCCGGTGAAGGGTGAGGGGCGCCTGGGTGAGGGGTGAGGGGTGAGGGGCG CGCCGGTGAAGGGTGAGGGGAGCGTGGGTGAGGGGTGAGGGGTGAGTGAT GCGCGAGTGAAGGGTGAGGGGCGCCTGGGTGAGGGGTGAGGGGTGAGGGG CGCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0277 a0001c0001t0015g0277	1	352	0.0028	555	c.-11 others(566): Show c.-1114_-1113insGGCGCGCCCCTCACCCCTCACCCCTCACCCAGGC GCCCCTCACCCTTCACTCGCGCATCACTCACCCCTCACCCCTCACCCACG CTCCCCTCACCCTTCACCGGCGCGCCCCTCACCCCTCACCCCTCACCCAG GCGCCCCTCACCCTTCACCGGCGCATCACTCACCCCTCACCCCTCACCCA CGCTCCCCTCACCCTTCACCGGCGCGCCCCTCACCCCTCACCCCTCACCC AGGCGCCCCTCACCCTTCACTCGCGCATCACTCACGCCTCACCCCTCACC CACGCTCCCCTCACTCTTCACCCGCGCGCCCCTCACCCCTCACCAGCGCG CCCCTCACTCTTCACCCGCGCGCCCCTCACCCCTCACCCCTCACCCGCGC GCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCAGCGCGCCCCT CACTCTTCACCCGCGCGCCCCTCACCCCTCACCCCTCACCAGCGCGCCCC TCACCCCTCACCCGCGCGCCCCTCACCCCTCACCAGCGCGCCCCTCACCC CTCACCAGCGCGCCCCTCACA		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding					942		chr18	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATTATA others(548): Show ATATTATATTTTATATTATAATATATAATATAATATATATTATATTTTAT GATATATAATATACATTATATTTTATGATATATAATATACATTATATTTT ATGATATATAATATACATTATATTTTATGATATATAATATACATTATATT TTATGATATATAATATACATTATATTTTATGATATATAATATACATTATA TTTTATGATATATAATATACATTATATTTTATGATATATAATATACATTA TATTTTATGATATATAATATACATTATATTTTATGATATATAATATACAT TATATTTTATGATATATAATATACATTATATTTTATGATATATAATATAC ATTATATTTTATGATATATAATATACATTATATTTTATGATATATAATAT ACATTATATTTTATGATATATAATATATATTATATTTTATGATATATAAT ATATATTATATTTTATGATATATAATATATATTATATTTTATGATATATA TTATATATTATATTTTATGATATATAATATATATTATATTTTATGATATA TAATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	340	0.0029	555	c.17 others(574): Show c.174+9791_*174+9792insATATTATATATCATAAAATATAATAT ATATTATATATCATAAAATATAATATATAATATATATCATAAAATATAAT ATATATTATATATCATAAAATATAATATATATTATATATCATAAAATATA ATATATATTATATATCATAAAATATAATGTATATTATATATCATAAAATA TAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAA TATAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAA AATATAATGTATATTATATATCATAAAATATAATGTATATTATATATCAT AAAATATAATGTATATTATATATCATAAAATATAATGTATATTATATATC ATAAAATATAATGTATATTATATATCATAAAATATAATGTATATTATATA TCATAAAATATAATGTATATTATATATCATAAAATATAATGTATATTATA TATCATAAAATATAATGTATATTATATATCATAAAATATAATATATATTA TATTATATATTATAATATAAAATATAATA		SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4						chr17	TogoVar
SMOC2_chr6_168436184_168672992	168594370	G G	GAGTATCT others(548): Show GAGTATCTTTCTAGAGGATCGCTGAGCTCCTCCTCCTTCCTGAGGCCTCA CGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTCACG GGCATCTTTCTAGAGGATCGCTGAGCTCCTCCTCCTTCCTAAGGCCTCAC GGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTAAGGCCTCA CGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGGCCTC ACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTCAC AAGGGGCATCTTTCTAGAGGATCTCTGAGCTCCTCCTCCTTCCTGAGGCC TCATGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTAAGGC CTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCT CACAAGGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTAAG GCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGC CTCACA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0162 a0001c0005t0001g0162	1	180	0.0056	555	c.638 others(572): Show c.638-4446_638-4445insTATCTTTCTAGAGGATCGCTGAGCTCCT CCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCC TCCTTCCTAAGGCCTCACGGGCATCTTTCTAGAGGATCGCTGAGCTCCTC CTCCTTCCTAAGGCCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCT CCTCCTTCCTAAGGCCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCC TCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCTC CTCCTTCCTAAGGCCTCACAAGGGGCATCTTTCTAGAGGATCTCTGAGCT CCTCCTCCTTCCTGAGGCCTCATGGGCATCTTTCTAGAGGATCGCCGAGC TCCTCCTCCTTCCTAAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAG CTCCTCCTTCCTAAGGCCTCACAAGGGGCATCTTTCTAGAGGATCGCCGA GCTCCTCCTCCTTCCTAAGGCCTCACGGGCATCTTTCTAGAGGATGGCCG AGCTCCTCCTTCCTAAGGCCTCACAAG		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG2_chr2_945849_1372613	1222464	G G	GGTGCTGG others(548): Show GGTGCTGGATCGCTGTAGAGGAAAGCGGCGCAGTGATGGAGGGCGTCTCC CTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTG CAGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGAT CGCTGTAGAGGAAGGCGGTGCAGTGATGGAGGGTGTCTCCCTGTCCTGCC TGCTGGTGGAGGTGCTGGACCGCTGTAGAGGAAAGTGGTGCAGTGATGGA GGGCGTCTCCCTGTCCTGCTGTGGAGGTGCTGAATCGCTGTAGAGGAAAG TGGTGCAGTGATGGAGGGCGCCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAACTGGTGCAGTG ATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGACCGCTG TAGAGGAAAGTGGCGCAGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTG CTGGAA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0134 a0004c0004t0001g0134	1	190	0.0053	555	c.719 others(574): Show c.719+13258_719+13259insCGGCGCAGTGATGGAGGGCGTCTCCC TGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGC AGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATC GCTGTAGAGGAAGGCGGTGCAGTGATGGAGGGTGTCTCCCTGTCCTGCCT GCTGGTGGAGGTGCTGGACCGCTGTAGAGGAAAGTGGTGCAGTGATGGAG GGCGTCTCCCTGTCCTGCTGTGGAGGTGCTGAATCGCTGTAGAGGAAAGT GGTGCAGTGATGGAGGGCGCCTCCCTGTCCTGCCTGCTGCTGGAGGTGCT GGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCC TGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAACTGGTGCAGTGA TGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGACCGCTGT AGAGGAAAGTGGCGCAGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTGC TGGAAGTGCTGGATCGCTGTAGAGGAAAG		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SRXN1_chr20_641615_658200	642352	G G	GGGGGGGG others(548): Show GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTG CCTGGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGG GGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGC CCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGC CTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGAGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGA GTTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0012 a0002c0004t0012	a0002c0004t0012g0046 a0002c0004t0012g0046	1	422	0.0024	555	c.63 others(566): Show c.6361_*6362insGGCAACTCCACCCCCGCTGGGCCCCCCACCACAG GCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGG GCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCAGGCAACTCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCG CTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCC CCGCTGGGCCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC AGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCCCCCCC		SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding					4262		chr20	TogoVar
SRXN1_chr20_641615_658200	642352	G G	GGGGGGGG others(548): Show GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTG CCTGGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGC CCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGAGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGA GTTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0012 a0002c0004t0012	a0002c0004t0012g0046 a0002c0004t0012g0046	1	422	0.0024	555	c.63 others(566): Show c.6361_*6362insGGCAACTCCACCCCCGCTGGGCCCCCCACCACAG GCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGG GCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCAGGCAACTCC ACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGC TGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCC CCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCC CCGCTGGGCCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC AGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCCCCCCC		SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding					4262		chr20	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(548): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGA GGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAGG GAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGA GGAAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGG GGGGGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0250 a0001c0001t0070g0250	1	322	0.0031	555	c.597 others(572): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCCCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCT TCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTC CTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCT TTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTT CCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCC TCCTCCCTCCCTCCTTCCTTTCCTCTC		STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10						chr13	TogoVar
TAOK2_chr16_29968868_29993393	29969559	G G	GTCCCAGC others(548): Show GTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCCTTTGATCCCAGGAG TTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAGCCTGGTTG CCAGAGTGAGACCCTGTCTCAAGAAGGAAAAAAAAAGAAAGTGTTCAGCC TTTGGGAGCACTCCATGTTGAGAGGCTTAGGAAGGAGAAAAGGCAAGAGA GACCACAGGGATTTGATGGAGAGGCTCTGTGAATGCAGGATAGAGGGCTA TGACCTGATGCTGAAGGCCGTGGGGGCCACTGAGGAGTTTTAAGGAGGAG AGAGATGTGCTTCCCTGGTGCTGGGTGGAGAATGGCTGAGTGGAGGAGGG CCATCAGTCAGGAGGCTGCTGCACACTCCACTCTCACATTTGAAAATACC CCATGAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCA AGGCCGGTGGATCACTTGAGGTCAGGACCAGCCTGGCCAACATGGTGAAA CCCCATCTCTACTAAAAATTTAAAAATTAGCTGGATGTTGTGGCGGGCGT CTGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0004 a0002c0004t0001g0004	1	346	0.0029	555	c.-51 others(566): Show c.-5125_-5124insTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATC CTTTGATCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGC ACTCCAGCCTGGTTGCCAGAGTGAGACCCTGTCTCAAGAAGGAAAAAAAA AGAAAGTGTTCAGCCTTTGGGAGCACTCCATGTTGAGAGGCTTAGGAAGG AGAAAAGGCAAGAGAGACCACAGGGATTTGATGGAGAGGCTCTGTGAATG CAGGATAGAGGGCTATGACCTGATGCTGAAGGCCGTGGGGGCCACTGAGG AGTTTTAAGGAGGAGAGAGATGTGCTTCCCTGGTGCTGGGTGGAGAATGG CTGAGTGGAGGAGGGCCATCAGTCAGGAGGCTGCTGCACACTCCACTCTC ACATTTGAAAATACCCCATGAGGCACGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCAAGGCCGGTGGATCACTTGAGGTCAGGACCAGCCTG GCCAACATGGTGAAACCCCATCTCTACTAAAAATTTAAAAATTAGCTGGA TGTTGTGGCGGGCGTCTGTGA		TAOK2	ENSG00000149930.18	transcript	ENST00000308893.9	protein_coding					4308		chr16	TogoVar
TERT_chr5_1248167_1300068	1273190	A A	ACATCAGA others(548): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC AACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGT CACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCT ACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCA CAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGA CCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATC CACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACAT CAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACC GCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCA CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATC CACAGT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0109 a0001c0014t0001g0109	1	392	0.0026	555	c.228 others(572): Show c.2287-911_2287-910insACTGTGGATGGCGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGG GGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGC GGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATG GCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGG TCTGATGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGTGGTGAC TGTGGATGGCGGTCGTGGGGTCTGATG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TMEM178B_chr7_141069064_141485380	141337026	T T	TCACCACC others(548): Show TCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCAC CATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCACCACCAGCATCACC ACCATCACCACCACCACCATCACCACCAGCATCACCACCATCACCACCAC CATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCAGCA TCACCACCATCACCACCATCACCACCACCACCACCATCACTACCACCACC ATCACCACCACCACCATCATCACCACCACCACCACCACCACCACCACCAC CACCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCA CCACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACC ACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCAC CACCAC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	80	0.0125	555	c.497 others(576): Show c.497-100568_497-100567insTCACCACCACCACCACCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCATC ACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCAGCATCACCACCATCACCACCACCACCATCACCACCAGCATCACCACC ATCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCAC CACCACCAGCATCACCACCATCACCACCATCACCACCACCACCACCATCA CTACCACCACCATCACCACCACCACCATCATCACCACCACCACCACCACC ACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCAC CACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA CCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCACCA		TMEM178B	ENSG00000261115.7	transcript	ENST00000565468.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
TMEM219_chr16_29957079_29978048	29969559	G G	GTCCCAGC others(548): Show GTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCCTTTGATCCCAGGAG TTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAGCCTGGTTG CCAGAGTGAGACCCTGTCTCAAGAAGGAAAAAAAAAGAAAGTGTTCAGCC TTTGGGAGCACTCCATGTTGAGAGGCTTAGGAAGGAGAAAAGGCAAGAGA GACCACAGGGATTTGATGGAGAGGCTCTGTGAATGCAGGATAGAGGGCTA TGACCTGATGCTGAAGGCCGTGGGGGCCACTGAGGAGTTTTAAGGAGGAG AGAGATGTGCTTCCCTGGTGCTGGGTGGAGAATGGCTGAGTGGAGGAGGG CCATCAGTCAGGAGGCTGCTGCACACTCCACTCTCACATTTGAAAATACC CCATGAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCA AGGCCGGTGGATCACTTGAGGTCAGGACCAGCCTGGCCAACATGGTGAAA CCCCATCTCTACTAAAAATTTAAAAATTAGCTGGATGTTGTGGCGGGCGT CTGTGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	368	0.0027	555	c.585 others(572): Show c.585+1330_586-1270dupTGGGAGGATCCTTTGATCCCAGGAGTTT GAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAGCCTGGTTGCCA GAGTGAGACCCTGTCTCAAGAAGGAAAAAAAAAGAAAGTGTTCAGCCTTT GGGAGCACTCCATGTTGAGAGGCTTAGGAAGGAGAAAAGGCAAGAGAGAC CACAGGGATTTGATGGAGAGGCTCTGTGAATGCAGGATAGAGGGCTATGA CCTGATGCTGAAGGCCGTGGGGGCCACTGAGGAGTTTTAAGGAGGAGAGA GATGTGCTTCCCTGGTGCTGGGTGGAGAATGGCTGAGTGGAGGAGGGCCA TCAGTCAGGAGGCTGCTGCACACTCCACTCTCACATTTGAAAATACCCCA TGAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGG CCGGTGGATCACTTGAGGTCAGGACCAGCCTGGCCAACATGGTGAAACCC CATCTCTACTAAAAATTTAAAAATTAGCTGGATGTTGTGGCGGGCGTCTG TGATCCCAGCTACTCAGGAGGCTGAGG		TMEM219	ENSG00000149932.17	transcript	ENST00000279396.11	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr16	TogoVar
TOP1MT_chr8_143304324_143339880	143321874	C C	CAGGCACG others(548): Show CAGGCACGCCACACGCACGCCACACACGCATGCCACACACACGCACGCCA CACACGCATGCCACACACAGCCACGCCACACACACACGCCACACACACAC AGGCACGCCACACACGCACGCCACACACACGCATGCCACACACACGCCAC ACACACAGGCACGCCACACACAGGCACGCCACACACGCACGCCACACACG CACGCCACACACGCACGCCACACACGCACGCCACACACAGGCACGCCACA CACGCACGCCACACACACGCACGCCACACACACACGCACGCCACACACAC GCACGCCACAAACGCACGCCACACACGCACGCCACACACGCACGCCAGCC ACACACGAACGCCACACACGAACGCCACACAAACGCCACACACACGAATG CCACACGCACACCACACACGCACGCCACACACGCACGCCACACACGCACG CCACACACAGGCATGCCACACACATGCACGCCACACACAGGCACGCCACA CACGCACGCCACACACAGGCATGCCAAACACGCACGCCACACATGCATGC CACACA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	430	0.0023	555	c.961 others(570): Show c.961-489_961-488insTGTGTGGCATGCATGTGTGGCGTGCGTGTT TGGCATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGGCGTG CATGTGTGTGGCATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGT GGCGTGCGTGTGTGGTGTGCGTGTGGCATTCGTGTGTGTGGCGTTTGTGT GGCGTTCGTGTGTGGCGTTCGTGTGTGGCTGGCGTGCGTGTGTGGCGTGC GTGTGTGGCGTGCGTTTGTGGCGTGCGTGTGTGTGGCGTGCGTGTGTGTG TGGCGTGCGTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGGCGTG CGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCG TGCCTGTGTGTGGCGTGCCTGTGTGTGTGGCGTGTGTGTGGCATGCGTGT GTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGTGTGGCGTGTGTGTGTG GCGTGGCTGTGTGTGGCATGCGTGTGTGGCGTGCGTGTGTGTGGCATGCG TGTGTGGCGTGCGTGTGGCGTGCCT		TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13						chr8	TogoVar
TOP1MT_chr8_143304324_143339880	143321874	C C	CAGGCACG others(548): Show CAGGCACGCCACACGCACGCCACACACGCATGCCACACACACGCACGCCA CACACGCATGCCACACACAGCCACGCCACACACACACGCCACACACACAC AGGCACGCCACACACGCACGCCACACACACGCATGCCACACACACGCCAC ACACACAGGCACGCCACACACAGGCACGCCACACACGCACGCCACACACG CACGCCACACACGCACGCCACACACGCACGCCACACACAGGCACGCCACA CACGCACGCCACACACACGCACGCCACACACACACGCACGCCACACACAC GCACGCCACAAACGCACGCCACACACGCACGCCACACACGCACGCCAGCC ACACACGCACGCCACACACGAACGCCACACAAACGCCACACACACGAATG CCACACGCACACCACACACGCACGCCACACACGCACGCCACACACGCACG CCACACACAGGCATGCCACACACATGCACGCCACACACAGGCACGCCACA CAAGCACGCCACACACAGGCATGCCAAACACGCACGCCACACATGCATGC CACACA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18971.hp1 NA19054.hp1 NA18940.hp2 NA18971.hp1 NA19054.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0014c0030 a0001c0001 a0014c0030	a0001c0001t0001 a0014c0030t0001 a0001c0001t0001 a0014c0030t0001	a0001c0001t0001g0246 a0001c0001t0001g0257 a0014c0030t0001g0247 a0001c0001t0001g0246 a0001c0001t0001g0257 a0014c0030t0001g0247	3	430	0.0070	555	c.961 others(570): Show c.961-489_961-488insTGTGTGGCATGCATGTGTGGCGTGCGTGTT TGGCATGCCTGTGTGTGGCGTGCTTGTGTGGCGTGCCTGTGTGTGGCGTG CATGTGTGTGGCATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGT GGCGTGCGTGTGTGGTGTGCGTGTGGCATTCGTGTGTGTGGCGTTTGTGT GGCGTTCGTGTGTGGCGTGCGTGTGTGGCTGGCGTGCGTGTGTGGCGTGC GTGTGTGGCGTGCGTTTGTGGCGTGCGTGTGTGTGGCGTGCGTGTGTGTG TGGCGTGCGTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGGCGTG CGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCG TGCCTGTGTGTGGCGTGCCTGTGTGTGTGGCGTGTGTGTGGCATGCGTGT GTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGTGTGGCGTGTGTGTGTG GCGTGGCTGTGTGTGGCATGCGTGTGTGGCGTGCGTGTGTGTGGCATGCG TGTGTGGCGTGCGTGTGGCGTGCCT		TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13						chr8	TogoVar
TOP1MT_chr8_143304324_143339880	143321874	C C	CAGGCACG others(548): Show CAGGCACGCCACACGCACGCCACACACGCATGCCACACACACGCACGCCA CACACGCATGCCACACACAGCCACGCCACACACACACGCCACACACACAC AGGCACGCCACACACGCACGCCACACACACGCATGCCACACACACGCCAC ACACACAGGCACGCCACACACAGGCACGCCACACACGCACGCCACACACG CACGCCACACACGCACGCCACACACGCACGCCACACACAGGCACGCCACA CACGCACGCCACACACACGCACGCCACACACACACGCACGCCACACACAC GCACGCCACAAACGCACGCCACACACGCACGCCACACACGCACGCCAGCC ACACACGCACGCCACACACGAACGCCACACAAACGCCACACACACGAATG CCACACGCACACCACACACGCACGCCACACACGCACGCCACACACGCACG CCACACACAGGCATGCCACACACATGCACGCCACACACAGGCACGCCACA CACGCACGCCACACACAGGCATGCCAAACACGCACGCCACACATGCATGC CACACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp2 others(69): Show HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01167.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01943.hp1 HG01952.hp1 HG01981.hp2 HG02015.hp2 HG02056.hp2 HG02148.hp2 HG02155.hp1 HG02273.hp2 HG02300.hp1 HG02738.hp1 HG03710.hp2 HG04115.hp1 NA18612.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18954.hp1 NA18956.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18971.hp2 NA18977.hp1 NA18979.hp2 NA18983.hp2 NA18984.hp2 NA18988.hp2 NA18992.hp1 NA18994.hp1 NA18997.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19054.hp2 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp2 NA19088.hp2 NA19091.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp2	a0001 a0008 a0015 others(1): Show a0001 a0008 a0015 a0020	a0001c0001 a0001c0008 a0001c0026 others(4): Show a0001c0001 a0001c0008 a0001c0026 a0001c0027 a0008c0011 a0015c0022 a0020c0019	a0001c0001t0001 a0001c0008t0001 a0001c0026t0001 others(4): Show a0001c0001t0001 a0001c0008t0001 a0001c0026t0001 a0001c0027t0001 a0008c0011t0001 a0015c0022t0001 a0020c0019t0001	a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0023 others(61): Show a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0125 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0195 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0008t0001g0054 a0001c0026t0001g0162 a0001c0027t0001g0226 a0008c0011t0001g0351 a0008c0011t0001g0352 a0015c0022t0001g0152 a0020c0019t0001g0229	72	430	0.1674	555	c.961 others(570): Show c.961-489_961-488insTGTGTGGCATGCATGTGTGGCGTGCGTGTT TGGCATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGGCGTG CATGTGTGTGGCATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGT GGCGTGCGTGTGTGGTGTGCGTGTGGCATTCGTGTGTGTGGCGTTTGTGT GGCGTTCGTGTGTGGCGTGCGTGTGTGGCTGGCGTGCGTGTGTGGCGTGC GTGTGTGGCGTGCGTTTGTGGCGTGCGTGTGTGTGGCGTGCGTGTGTGTG TGGCGTGCGTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGGCGTG CGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCG TGCCTGTGTGTGGCGTGCCTGTGTGTGTGGCGTGTGTGTGGCATGCGTGT GTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGTGTGGCGTGTGTGTGTG GCGTGGCTGTGTGTGGCATGCGTGTGTGGCGTGCGTGTGTGTGGCATGCG TGTGTGGCGTGCGTGTGGCGTGCCT		TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13						chr8	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(548): Show ATATTATATATACATTATATATATATATATTATATATACATTATATATAT ATTATATATACATTATATATATATATTATATATACATTATATATATATTA TATATACATTATATATATATATTATATATACATTATATATATATTATATA TACATTATATATATATTATATATACATTATATATATATTATATATACATT ATATATATATTATATATACATTATATATATATTATATATTATATATACAT TATATATATTATATATTATATATACATTATATATATTATATATTATATAT ACATTATATATATTATATATTATATATACATTATATATATTATATATTAT ATATACATTATATATATTATATATTATATATACATTATATATATTATATA TTATATATACATTATATATATTATATATTATATATACATTATATATATTA TATATTATATATACATTATATATATTATATATTATATATACATTATATAT ATTATATATTATATATACATTATATATATTATATATTATATATACATTAT ATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0058 a0001c0001t0007g0058	1	224	0.0045	555	c.102 others(574): Show c.102+26610_102+26611insATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATAATATATATAATGTATATATAAT ATATAATATATATAATGTATATATAATATATAATATATATAATGTATATA TAATATATAATATATATAATGTATATATAATATATAATATATATAATGTA TATATAATATATAATATATATAATGTATATATAATATATAATATATATAA TGTATATATAATATATAATATATATAATGTATATATAATATATAATATAT ATAATGTATATATAATATATAATATATATAATGTATATATAATATATAAT ATATATATAATGTATATATAATATATATATAATGTATATATAATATATAT ATAATGTATATATAATATATATATAATGTATATATAATATATATATAATG TATATATAATATATATATATAATGTATATATAATATATATATAATGTATA TATAATATATATATATAATGTATATATAATATATATATAATGTATATATA ATATATATATATATAATGTATATATAATA		TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8						chr8	TogoVar
TP53AIP1_chr11_128930370_128947871	128930685	G G	GGTTAGGG others(548): Show GGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTA GGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACC AAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGG GTTAGGGAGGCCGGGGTTAGAGAGGCCGGGGTTAGGGAGACCAAGGGTCA GGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGA GGCCGGGGTTAGAGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCC AGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGG GTTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGAAGGCCGGGGTTAG GGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGA GGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGCC AGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	466	0.0022	555	c.49 others(566): Show c.4905_*4906insACCCCTGGCCTCCCTAACCCCTGGCCTCTCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTG GCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTTCCTAACCCCCAGCC TCCCTACCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCGGCCTCCCT AACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAAC CCCGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGG CCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCT CTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTA ATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACC CCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGG CCTCCCTGACCCTTGGTCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTC CCTAACCCCAGCCTCCCTAAC		TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding					4684		chr11	TogoVar
TWIST2_chr2_238843085_238915534	238870185	C C	CCACACAC others(548): Show CCACACACCCCACACACACCACACCCCACACACACCACACAAACCACACA CCCTACACACCCCACACACACCACACACCACACACACCCCACACACACCA CACCCCACACACACCACACACCCCCCACACACACCACACCCCATACACAC CACACCCCACACACACCACACCCCATACACACCACACACCCCACACACAC CACACACCCCACACACACCACACCCCATACACACCACACCCCCCACACAC CACACACCCCACACACACCACACCCCATACACACCACACCCCACACACAC CACACACCCCACACACACCACACCCCATACACACCACACACCCCACACAC CACACCCCACACACACCACACCCCACACACACCACACCCCATACACACCA CACACCCCACACACACGACACACCCCACACACACCACACCCCATACACAC CACACCCCACACACACCACACACCCCACACACACCACACCCCATACACAC CACACACCCCACACACCACACACACACATCACATACCACACACACATCAC ATACCA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0325 a0001c0001t0004g0325	1	338	0.0030	555	c.35 others(574): Show c.35+21452_*35+21453insCACACACCCCACACACACCACACCCC ACACACACCACACAAACCACACACCCTACACACCCCACACACACCACACA CCACACACACCCCACACACACCACACCCCACACACACCACACACCCCCCA CACACACCACACCCCATACACACCACACCCCACACACACCACACCCCATA CACACCACACACCCCACACACACCACACACCCCACACACACCACACCCCA TACACACCACACCCCCCACACACCACACACCCCACACACACCACACCCCA TACACACCACACCCCACACACACCACACACCCCACACACACCACACCCCA TACACACCACACACCCCACACACCACACCCCACACACACCACACCCCACA CACACCACACCCCATACACACCACACACCCCACACACACGACACACCCCA CACACACCACACCCCATACACACCACACCCCACACACACCACACACCCCA CACACACCACACCCCATACACACCACACACCCCACACACCACACACACAC ATCACATACCACACACACATCACATACCA		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1						chr2	TogoVar
ULK1_chr12_131889622_131928150	131917125	C C	CGGGTTCG others(548): Show CGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGAC GGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTC GGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAG GCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTG TGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTG GGGCTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0092 a0001c0002t0005g0092	1	344	0.0029	555	c.218 others(570): Show c.2182+65_2182+66insGTTCGGCTCGGAGGCTGTGGGACGGGGGTC GGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCT GTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGT TCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGG GATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGG CTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCG GAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGG TCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGG CTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGG GTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGT GGGACGGGGGTCGGGTGGGGCTTGG		ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27					INFO_REALIGN_3_PRIME	chr12	TogoVar
UMAD1_chr7_7635752_7884223	7679372	T T	TACATGTT others(548): Show TACATGTTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATA TATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTA TAGATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0051 a0001c0001t0069g0051	1	250	0.0040	555	c.82+ others(570): Show c.82+5920_82+5921insCATGTTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAGATAAATATATATTTATATATTTAATTTATAGA TAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATAT TTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATAT ATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTT ATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA AATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTT AATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATAT ATTTATATATTTAATTTATAGATAA		UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(548): Show TCCTCTCCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCTCCC CTCCCCCTCCCCTCCCCTCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTC CCTCCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCT CCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCCTCTCC CCTCCCCCTCTCCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTC CCCCTCTCCCCTCCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCCTCCCCCTCT CCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCC CCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCCTC CCCCTCCCCTCCCCCTCTCCCCCTCCCCCCTCCCCTTTCCCCCCTCCTTC CCCCTC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0225 a0005c0005t0003g0225	1	246	0.0041	555	c.53- others(568): Show c.53-446_53-445insTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCC CCTCCCTCCCCTCCCCCTCCCCTCCCCTCTCCCCCTCCCCTCCCCCTCCC CCTCCCCCTCCCTCCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCT CCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTC CCCCCTCTCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCTCCCCCTGTCC CCCTCCTCTCCCCCTCTCCCCTCCCCCCTCTCCTCTCCCCCTCCTCTCCC CCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCTCCCCCTCTCCCC CTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTC TCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCT CTCCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCCTCCCCTTTCC CCCCTCCTTCCCCCTCCCTCTCC		VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr10	TogoVar

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Search Results (Total: 10000 hits)